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
FCGR2A	2212	broad.mit.edu	37	1	161479826	161479826	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:161479826C>A	ENST00000271450.6	+	4	619	c.581C>A	c.(580-582)aCg>aAg	p.T194K	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T193K	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	194	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATAGGCTACACGCTGTTCTCA	0.517000													25	39					2.98393e-07	3.41095e-07	0.002780	1	0
UNC79	57578	broad.mit.edu	37	14	94149022	94149022	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94149022G>A	ENST00000553484.1	+	44	7138	c.6984G>A	c.(6982-6984)atG>atA	p.M2328I	UNC79_ENST00000393151.2_Missense_Mutation_p.M2306I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2267I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2129I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2306						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						GCAAGCAGATGATAGCCTCTG	0.348000													9	16					0	0	0.000978	0	0
CDH10	1008	broad.mit.edu	37	5	24491847	24491847	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:24491847C>A	ENST00000264463.4	-	11	2221	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	572	Cadherin 5.				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)		ATTGGGTAATCATTGTCTGAT	0.433000										HNSCC(23;0.051)			23	41					7.41877e-09	8.8092e-09	0.001882	1	0
AVPR1A	552	broad.mit.edu	37	12	63544072	63544072	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63544072C>T	ENST00000299178.2	-	1	650	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	182					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCGGCGTGCTCAGCACGAA	0.652000													57	6					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137665	40137665	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:40137665C>A	ENST00000278198.2	-	2	2141	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.V60L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V60L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V60L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	60	LRRNT.				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)				ACACAAATCACCTTGCTGAAC	0.542000													16	21					2.23348e-06	2.47815e-06	0.004007	1	0
LRBA	987	broad.mit.edu	37	4	151604712	151604712	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:151604712G>A	ENST00000535741.1	-	37	6385	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	LRBA_ENST00000507224.1_Missense_Mutation_p.S1971F|LRBA_ENST00000510413.1_Missense_Mutation_p.S1971F|LRBA_ENST00000357115.3_Missense_Mutation_p.S1971F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1971						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)					CCTCACTGCAGAATTTCCCCA	0.403000													9	71					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179435287	179435287	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179435287C>A	ENST00000589042.1	-	326	75796	c.75572G>T	c.(75571-75573)gGa>gTa	p.G25191V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16126V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16318V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16251V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22623V|TTN_ENST00000591111.1_Missense_Mutation_p.G23550V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23550	Fibronectin type-III 83.						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)			TGATCTTTCTCCTGCAACATT	0.433000													8	15					0.00307968	0.00317668	0.003080	1	0
GRIK4	2900	broad.mit.edu	37	11	120827558	120827558	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120827558G>T	ENST00000527524.2	+	16	2057	c.1770G>T	c.(1768-1770)caG>caT	p.Q590H	GRIK4_ENST00000438375.2_Missense_Mutation_p.Q590H			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	590					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGGTGAACCAGTACTCCCTGG	0.622000													63	59					2.82337e-50	5.23883e-50	0.003610	1	0
SSTR4	6754	broad.mit.edu	37	20	23016580	23016580	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23016580G>A	ENST00000255008.3	+	1	524	c.460G>A	c.(460-462)Gcg>Acg	p.A154T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	154					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCTCTGCGCGCGGCGACCTA	0.662000													9	65					0	0	0.004482	0	0
R3HDM1	23518	broad.mit.edu	37	2	136467772	136467772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:136467772G>T	ENST00000264160.4	+	22	2972	c.2602G>T	c.(2602-2604)Gaa>Taa	p.E868*	R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.E739*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.E740*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.E813*|R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.E869*	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	868							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAAGTGTGTAGAATTTAGCAG	0.383000											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	42					4.3838e-07	4.97067e-07	0.001855	1	0
SOX8	30812	broad.mit.edu	37	16	1035161	1035161	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:1035161C>A	ENST00000293894.3	+	3	1231	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	372					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				cggccgcccccgccggccccT	0.726000													8	18					0.00307968	0.00317668	0.003080	1	0
COL6A5	256076	broad.mit.edu	37	3	130188172	130188172	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:130188172G>T	ENST00000265379.6	+	38	7818	c.7324G>T	c.(7324-7326)Gtg>Ttg	p.V2442L	COL6A5_ENST00000432398.2_Missense_Mutation_p.V2442L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2442	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCCATATTTGTGTTTTCCTT	0.438000													16	32					6.72482e-11	8.35289e-11	0.003163	1	0
USP51	158880	broad.mit.edu	37	X	55513961	55513961	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:55513961C>A	ENST00000500968.3	-	2	1494	c.1412G>T	c.(1411-1413)gGg>gTg	p.G471V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	471					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGCCTCCTGCCCACCACTATC	0.468000													41	14					2.40228e-13	3.12201e-13	0.003214	1	0
MCF2L2	23101	broad.mit.edu	37	3	183014772	183014772	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183014772C>T	ENST00000328913.3	-	12	1786	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	MCF2L2_ENST00000447025.2_Missense_Mutation_p.D497N|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D497N|B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D497N	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	497					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTTTGCATCGAGGGTGAGC	0.512000													11	48					0	0	0.000978	0	0
ASB2	51676	broad.mit.edu	37	14	94401024	94401024	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94401024A>T	ENST00000555019.1	-	10	2316	c.1886T>A	c.(1885-1887)cTg>cAg	p.L629Q	ASB2_ENST00000315988.4_Missense_Mutation_p.L581Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	581					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTCGTATTTCAGGTATCTAAT	0.537000													23	33					0	0	0.002780	0	0
SMC2	10592	broad.mit.edu	37	9	106889718	106889718	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:106889718A>T	ENST00000286398.7	+	20	3035	c.2747A>T	c.(2746-2748)aAc>aTc	p.N916I	SMC2_ENST00000303219.8_Missense_Mutation_p.N916I|SMC2_ENST00000374793.3_Missense_Mutation_p.N916I|SMC2_ENST00000374787.3_Missense_Mutation_p.N916I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	916				N -> H (in Ref. 1; AAC72360).	cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTAGACCACAACATCAGCAAA	0.363000													28	5					0	0	0.009535	0	0
DNAH17	8632	broad.mit.edu	37	17	76571115	76571115	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:76571115G>T	ENST00000389840.5	-	2	149	c.25C>A	c.(25-27)Cta>Ata	p.L9I	DNAH17_ENST00000585328.1_Missense_Mutation_p.L9I					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)			AGATACTCTAGTCTGACGTCC	0.532000													15	19					1.5739e-10	1.94266e-10	0.004007	1	0
LPXN	9404	broad.mit.edu	37	11	58317280	58317280	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58317280C>T	ENST00000528954.1	-	7	855	c.736G>A	c.(736-738)Gga>Aga	p.G246R	LPXN_ENST00000395074.2_Missense_Mutation_p.G241R|LPXN_ENST00000528489.1_Missense_Mutation_p.G221R	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	241	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AACACCTCTCCGCAGTGAGAG	0.498000													13	18					0	0	0.003163	0	0
CCDC88C	440193	broad.mit.edu	37	14	91810001	91810001	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:91810001C>A	ENST00000389857.6	-	5	427	c.340_splice	c.e5-1	p.G114_splice		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	114					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATGCTCTTCCCTAGATCAAG	0.478000													8	12					1.11149e-13	1.45315e-13	0.008291	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262281	140262281	+	Missense_Mutation	SNP	C	C	A	rs140980938		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140262281C>A	ENST00000289272.2	+	1	428	c.428C>A	c.(427-429)gCa>gAa	p.A143E	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A143E|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATCATTGCAGAATCTAGA	0.493000													58	15					5.39261e-20	8.05204e-20	0.003610	1	0
OR52R1	119695	broad.mit.edu	37	11	4825714	4825714	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4825714A>G	ENST00000380382.1	-	1	133	c.134T>C	c.(133-135)aTa>aCa	p.I45T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					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)		GGATGGGACTATTGGATACCA	0.323000													31	6					0	0	0.007291	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103405971	103405971	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:103405971C>A	ENST00000361246.2	-	34	5091	c.4803G>T	c.(4801-4803)atG>atT	p.M1601I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1601					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGCACCTGCATGCCGTCGC	0.617000													30	16					3.65163e-15	4.952e-15	0.006320	1	0
MYLK3	91807	broad.mit.edu	37	16	46755035	46755035	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:46755035C>A	ENST00000394809.4	-	9	2100	c.1985_splice	c.e9+1	p.R662_splice	MYLK3_ENST00000536476.1_Splice_Site_p.R321_splice	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	662	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCCCTTACCTTCTGGCCAG	0.448000													33	14					1.26612e-14	1.69361e-14	0.003271	1	0
NR2C1	7181	broad.mit.edu	37	12	95451334	95451334	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:95451334C>G	ENST00000333003.5	-	7	1108	c.778G>C	c.(778-780)Gat>Cat	p.D260H	NR2C1_ENST00000393101.3_Missense_Mutation_p.D260H|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.D260H	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	260					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CACACCTTATCTGATGTCATC	0.328000													23	5					0	0	0.001882	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519525	137519525	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:137519525C>G	ENST00000367739.4	-	7	1234	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L	IFNGR1_ENST00000543628.1_Silent_p.L343L	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	371					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTATTGGAGTCAGATGGCTGC	0.428000													31	73					0	0	0.002445	0	0
EPHA8	2046	broad.mit.edu	37	1	22903330	22903330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:22903330C>A	ENST00000166244.3	+	3	852	c.780C>A	c.(778-780)tgC>tgA	p.C260*	EPHA8_ENST00000374644.4_Nonsense_Mutation_p.C260*|EPHA8_ENST00000538803.1_Nonsense_Mutation_p.C260*	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	260	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGGCAAATGCGTGTGCAGTG	0.682000													25	14					2.41591e-17	3.42763e-17	0.004656	1	0
MROH2B	133558	broad.mit.edu	37	5	41045901	41045901	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41045901T>A	ENST00000399564.4	-	18	2233	c.1783A>T	c.(1783-1785)Act>Tct	p.T595S	MROH2B_ENST00000506092.2_Missense_Mutation_p.T150S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAATCCTGAGTCAGCTGAATG	0.428000													181	110					0	0	0.003610	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662418	24662418	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24662418C>T	ENST00000530611.1	-	7	1063	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	TM9SF1_ENST00000396854.4_Missense_Mutation_p.D135N|TM9SF1_ENST00000261789.4_Missense_Mutation_p.D135N|TM9SF1_ENST00000556387.1_Missense_Mutation_p.D344N|TM9SF1_ENST00000524835.1_Missense_Mutation_p.D48N|TM9SF1_ENST00000528669.1_Missense_Mutation_p.D135N			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	135					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATTGGCAAGTCATCTACCACA	0.507000													51	45					0	0	0.003610	0	0
FOXO3	2309	broad.mit.edu	37	6	108984932	108984932	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:108984932G>T	ENST00000406360.1	+	2	1239	c.896G>T	c.(895-897)aGc>aTc	p.S299I	FOXO3_ENST00000540898.1_Missense_Mutation_p.S79I|FOXO3_ENST00000343882.6_Missense_Mutation_p.S299I	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	299				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ACGTCACGCAGCAGTGATGAG	0.627000													22	4					1.22574e-08	1.45008e-08	0.002299	1	0
INHBA	3624	broad.mit.edu	37	7	41730103	41730103	+	Missense_Mutation	SNP	C	C	A	rs151132792		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:41730103C>A	ENST00000242208.4	-	3	672	c.426G>T	c.(424-426)aaG>aaT	p.K142N	INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	142					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTGCCTTCCTTGGAAATCT	0.502000										TSP Lung(11;0.080)			17	31					3.41278e-10	4.17827e-10	0.004990	1	0
BBS12	166379	broad.mit.edu	37	4	123663745	123663745	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:123663745A>T	ENST00000542236.1	+	3	1079	c.698A>T	c.(697-699)cAc>cTc	p.H233L	BBS12_ENST00000314218.3_Missense_Mutation_p.H233L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	233					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATACTAATCCACAGTAGGCAT	0.388000									Bardet-Biedl syndrome				18	29					0	0	0.004990	0	0
COBL	23242	broad.mit.edu	37	7	51094361	51094361	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:51094361G>A	ENST00000395542.2	-	13	3816	c.3630_splice	c.e13-1	p.T1211_splice	COBL_ENST00000265136.7_Splice_Site_p.T1129_splice			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1129	Poly-Pro.							p.T1129M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTTCTGCCGTCTAGAATAT	0.557000													14	242					0	0	0.004990	0	0
ZNF445	353274	broad.mit.edu	37	3	44488673	44488673	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:44488673C>A	ENST00000425708.2	-	7	2831	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D	ZNF445_ENST00000396077.2_Missense_Mutation_p.E830D			P59923	ZN445_HUMAN	zinc finger protein 445	830					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGATTTTTGGCTCCACATTTG	0.403000													85	18					1.52804e-57	2.8733e-57	0.003610	1	0
TRIM72	493829	broad.mit.edu	37	16	31230804	31230804	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31230804G>T	ENST00000322122.3	+	4	965	c.681G>T	c.(679-681)gaG>gaT	p.E227D		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	227					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						AGGTCCTGGAGGAGGTGGCGG	0.667000													15	23					0.000219431	0.000232318	0.002450	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110397854	110397854	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110397854T>A	ENST00000378402.5	+	6	668	c.564T>A	c.(562-564)atT>atA	p.I188I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	188	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTTAGGATTTTGAGGTAAT	0.294000										HNSCC(38;0.096)			9	15					0	0	0.008291	0	0
TRANK1	9881	broad.mit.edu	37	3	36897470	36897470	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:36897470T>A	ENST00000429976.2	-	12	3858	c.3611A>T	c.(3610-3612)cAg>cTg	p.Q1204L	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q654L|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q654L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1204					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						AAGAAGCAGCTGCTTGGAAGT	0.468000													164	19					0	0	0.003610	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647478	33647478	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:33647478C>A	ENST00000558425.1	-	2	121	c.122G>T	c.(121-123)tGt>tTt	p.C41F																								AGAGTCTGGACAGGACAGTCT	0.567000													68	96					3.94896e-32	6.7889e-32	0.003610	1	0
KCTD1	284252	broad.mit.edu	37	18	24039845	24039845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:24039845C>A	ENST00000417602.1	-	4	2177	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	KCTD1_ENST00000579973.1_Missense_Mutation_p.Q118H|KCTD1_ENST00000317932.7_Missense_Mutation_p.Q118H|KCTD1_ENST00000408011.3_Missense_Mutation_p.Q118H|KCTD1_ENST00000580059.1_Missense_Mutation_p.Q118H	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	118					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAACATGGGCTGAAGCTGAA	0.438000													72	19					1.14856e-27	1.90137e-27	0.003610	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	80					0	0	0.009096	0	0
ZNF431	170959	broad.mit.edu	37	19	21365467	21365467	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:21365467G>T	ENST00000311048.7	+	5	505	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZNF431_ENST00000600692.1_Missense_Mutation_p.R128I|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGAGCAAGACATAAAAGA	0.323000													22	3					8.04996e-18	1.15545e-17	0.001882	1	0
TRANK1	9881	broad.mit.edu	37	3	36897117	36897117	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:36897117C>A	ENST00000429976.2	-	12	4211	c.3964G>T	c.(3964-3966)Ggg>Tgg	p.G1322W	TRANK1_ENST00000428977.2_Missense_Mutation_p.G772W|TRANK1_ENST00000301807.6_Missense_Mutation_p.G772W			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1322					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						GTGAGTCTCCCATGGGGACAG	0.448000													107	15					2.01602e-52	3.76567e-52	0.003610	1	0
CAPZB	832	broad.mit.edu	37	1	19775401	19775401	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:19775401C>T	ENST00000264203.3	-	2	501	c.8G>A	c.(7-9)aGg>aAg	p.R3K	CAPZB_ENST00000433834.1_Intron|CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000375142.1_Intron|CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000401084.2_Intron			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTGGAACTGCCTGGGCATTGG	0.562000													8	34					0	0	0.003080	0	0
RFC1	5981	broad.mit.edu	37	4	39343997	39343997	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:39343997C>G	ENST00000381897.1	-	4	432	c.299G>C	c.(298-300)cGg>cCg	p.R100P	RFC1_ENST00000349703.2_Missense_Mutation_p.R100P|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	100					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGATCCTGCCGTGAAATTTT	0.398000													19	38					0	0	0.006122	0	0
OR11H6	122748	broad.mit.edu	37	14	20692206	20692206	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20692206C>A	ENST00000315519.2	+	1	416	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTTCTCTGGTTGCTTC	0.413000													74	10					1.356e-25	2.19666e-25	0.003610	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388873	119388873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:119388873G>T	ENST00000326624.2	+	2	1831	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.E535*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	535	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCTTGCAGAATATCGCAC	0.423000													42	9					1.23103e-26	2.01581e-26	0.003214	1	0
SPAG16	79582	broad.mit.edu	37	2	214174813	214174813	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:214174813G>T	ENST00000413312.1	+	3	463	c.217G>T	c.(217-219)Gca>Tca	p.A73S	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000447990.1_Missense_Mutation_p.A104S|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000432529.2_Missense_Mutation_p.A104S|SPAG16_ENST00000331683.5_Missense_Mutation_p.A104S|SPAG16_ENST00000272898.7_Missense_Mutation_p.A104S			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	104					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)		TTCAAAGCATGCAGTACCTGA	0.323000													14	22					1.3612e-06	1.52495e-06	0.003163	1	0
NCOR1	9611	broad.mit.edu	37	17	15971414	15971414	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:15971414G>C	ENST00000268712.3	-	32	4792	c.4535C>G	c.(4534-4536)tCt>tGt	p.S1512C	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1528C|NCOR1_ENST00000395857.3_Missense_Mutation_p.S96C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1512	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGATTGGTAGACTTGTTAGA	0.438000													10	10					0	0	0.006214	0	0
EVI5	7813	broad.mit.edu	37	1	93257926	93257926	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:93257926G>T	ENST00000370331.1	-	1	35	c.26C>A	c.(25-27)gCc>gAc	p.A9D	EVI5_ENST00000543509.1_Missense_Mutation_p.A9D|EVI5_ENST00000540033.1_Missense_Mutation_p.A9D	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	9	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTTCTAAAGGCAGCAGTCAT	0.333000													11	28					0.00136819	0.00142249	0.001368	1	0
CEP170B	283638	broad.mit.edu	37	14	105353375	105353375	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353375G>T	ENST00000453495.1	+	12	3030	c.2802G>T	c.(2800-2802)gtG>gtT	p.V934V	CEP170B_ENST00000414716.3_Silent_p.V933V|CEP170B_ENST00000556508.1_Silent_p.V863V|CEP170B_ENST00000418279.1_Silent_p.V863V					centrosomal protein 170B																		CTAATTCTGTGGATGCCGAGT	0.672000													7	13					3.51602e-12	4.48635e-12	0.008871	1	0
TBC1D19	55296	broad.mit.edu	37	4	26668003	26668003	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:26668003G>T	ENST00000264866.4	+	9	918	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	TBC1D19_ENST00000511789.1_Missense_Mutation_p.D149Y	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	214						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTGGGTATAGATGATTCTAC	0.343000													15	67					4.75885e-15	6.43575e-15	0.004990	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735354	55735354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55735354C>A	ENST00000312345.2	-	1	636	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	196					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)					GTGATAAACACCACCGCTACT	0.383000													17	19					3.45872e-05	3.74663e-05	0.004007	1	0
FBXO34	55030	broad.mit.edu	37	14	55818810	55818810	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55818810C>G	ENST00000313833.4	+	2	1947	c.1702C>G	c.(1702-1704)Ctt>Gtt	p.L568V	FBXO34_ENST00000440021.1_Missense_Mutation_p.L568V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	568										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AATCCAGCAGCTTTTGGAGCC	0.468000													37	69					0	0	0.004289	0	0
KNG1	3827	broad.mit.edu	37	3	186457126	186457126	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:186457126G>A	ENST00000265023.4	+	9	1260	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	KNG1_ENST00000447445.1_Missense_Mutation_p.D314N|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.D350N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	350	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCAAAGCCTAGATTGCAACGC	0.383000													14	34					0	0	0.003163	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333059	42333059	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:42333059G>T	ENST00000262418.6	-	14	1937	c.1782C>A	c.(1780-1782)agC>agA	p.S594R		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	594	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAAATAGGAGCTGTTCTTGA	0.592000													50	9					2.43468e-25	3.93433e-25	0.003610	1	0
PINX1	54984	broad.mit.edu	37	8	10623340	10623340	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:10623340C>A	ENST00000314787.3	-	7	677	c.558G>T	c.(556-558)atG>atT	p.M186I	SOX7_ENST00000554914.1_Intron|PINX1_ENST00000519088.1_Missense_Mutation_p.G161C|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_Missense_Mutation_p.G159C	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCAGTGCTGCCATCCGCTTGG	0.542000													76	36					1.38705e-31	2.37418e-31	0.003610	1	0
COL4A4	1286	broad.mit.edu	37	2	227915763	227915763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:227915763C>T	ENST00000396625.3	-	33	3287	c.3080G>A	c.(3079-3081)gGa>gAa	p.G1027E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1027E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1027	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)		GCCTGGGGGTCCAGGAGGCCC	0.587000													32	78					0	0	0.009535	0	0
ZNF165	7718	broad.mit.edu	37	6	28053315	28053315	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28053315T>A	ENST00000377325.1	+	2	613	c.57T>A	c.(55-57)ctT>ctA	p.L19L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	19					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAAGGACTTCTGATAGTGA	0.438000													188	83					0	0	0.003610	0	0
ERCC5	2073	broad.mit.edu	37	13	103514619	103514619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:103514619G>T	ENST00000355739.4	+	8	2543	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R799L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5									p.A374T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGGAGGAACGCACCTGCTGC	0.522000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				45	30					5.78141e-17	8.11463e-17	0.003214	1	0
ZNF595	152687	broad.mit.edu	37	4	59446	59446	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:59446C>A	ENST00000509152.2	+	2	312	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	ZNF595_ENST00000526473.2_Missense_Mutation_p.L43M|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CCTGGTCTCCCTGGGTGAGGA	0.428000													77	208					1.58458e-29	2.675e-29	0.003610	1	0
SSPN	8082	broad.mit.edu	37	12	26383870	26383870	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:26383870A>T	ENST00000242729.2	+	3	770	c.593A>T	c.(592-594)cAg>cTg	p.Q198L	SSPN_ENST00000422622.2_Missense_Mutation_p.Q95L|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000540266.1_Missense_Mutation_p.Q95L|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	198					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTACTCATCCAGATGATTCTT	0.502000													38	95					0	0	0.007835	0	0
COL20A1	57642	broad.mit.edu	37	20	61941839	61941839	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61941839G>C	ENST00000422202.1	+	10	1459	c.1391G>C	c.(1390-1392)gGc>gCc	p.G464A	COL20A1_ENST00000326996.6_Missense_Mutation_p.G457A|COL20A1_ENST00000358894.6_Missense_Mutation_p.G457A|COL20A1_ENST00000435874.1_Missense_Mutation_p.G464A			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	457	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTTGGCGAAGGCCTGCGGGGC	0.692000													8	17					0	0	0.003080	0	0
SCFD2	152579	broad.mit.edu	37	4	54231379	54231379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:54231379G>A	ENST00000401642.3	-	1	863	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.Q244*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	244					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGATGACCTGACTTAAGGAA	0.517000													39	47					0	0	0.009718	0	0
GRIK4	2900	broad.mit.edu	37	11	120833380	120833380	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120833380C>A	ENST00000527524.2	+	18	2543	c.2256C>A	c.(2254-2256)ggC>ggA	p.G752G	GRIK4_ENST00000438375.2_Silent_p.G752G			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	752					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGGGATTGGCATGCCAGTCG	0.537000													46	50					0.000147903	0.000157438	0.003610	1	0
OR4K2	390431	broad.mit.edu	37	14	20344691	20344691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20344691C>A	ENST00000298642.2	+	1	301	c.265C>A	c.(265-267)Cac>Aac	p.H89N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTAACAGGTCACAAAACCAT	0.408000													191	181					7.25519e-74	1.38547e-73	0.003610	1	0
OR52K1	390036	broad.mit.edu	37	11	4510930	4510930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4510930C>T	ENST00000307632.3	+	1	822	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACCGTGTAGCCCGCCATGCT	0.512000													61	99					0	0	0.003610	0	0
KCNF1	3754	broad.mit.edu	37	2	11052723	11052723	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:11052723T>A	ENST00000295082.1	+	1	661	c.171T>A	c.(169-171)gcT>gcA	p.A57A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	57						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACTGCTTGGCTGGGGGCTACG	0.622000													7	31					0	0	0.001984	0	0
FSHR	2492	broad.mit.edu	37	2	49381474	49381474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:49381474C>A	ENST00000406846.2	-	1	202	c.83G>T	c.(82-84)aGg>aTg	p.R28M	FSHR_ENST00000304421.4_Missense_Mutation_p.R28M|FSHR_ENST00000346173.3_Missense_Mutation_p.R28M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	28	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGAAAAACCCTGTTAGAGCA	0.512000									Gonadal Dysgenesis, 46 XX				19	24					1.33834e-09	1.61142e-09	0.007413	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13919735	13919735	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13919735G>A	ENST00000254323.2	+	4	987	c.798G>A	c.(796-798)aaG>aaA	p.K266K	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	266							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGCAGGTGAAGCAGCTACTGT	0.697000													4	10					0	0	0.009096	0	0
VCAN	1462	broad.mit.edu	37	5	82837494	82837494	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:82837494C>G	ENST00000265077.3	+	8	9237	c.8672C>G	c.(8671-8673)tCt>tGt	p.S2891C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S1904C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2891	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)		GAGCCTCCCTCTTTATCTCCT	0.383000													44	10					0	0	0.003214	0	0
FAM47A	158724	broad.mit.edu	37	X	34149284	34149284	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34149284C>A	ENST00000346193.3	-	1	1163	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	371										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						ACTGGACCCCCGACGAGTCTT	0.642000													25	6					1.36565e-18	1.9863e-18	0.002780	1	0
CEP170B	283638	broad.mit.edu	37	14	105353377	105353377	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353377A>C	ENST00000453495.1	+	12	3032	c.2804A>C	c.(2803-2805)gAt>gCt	p.D935A	CEP170B_ENST00000414716.3_Missense_Mutation_p.D934A|CEP170B_ENST00000556508.1_Missense_Mutation_p.D864A|CEP170B_ENST00000418279.1_Missense_Mutation_p.D864A					centrosomal protein 170B																		AATTCTGTGGATGCCGAGTGT	0.672000													9	13					0	0	0.001882	0	0
FBXW4	6468	broad.mit.edu	37	10	103372211	103372211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:103372211C>A	ENST00000331272.7	-	7	1478	c.860G>T	c.(859-861)gGc>gTc	p.G287V	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	287					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAAGTCACTGCCCAAGTGTGT	0.562000													51	11					8.99859e-20	1.33552e-19	0.003610	1	0
PCDH10	57575	broad.mit.edu	37	4	134073585	134073585	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:134073585G>T	ENST00000264360.4	+	1	3116	c.2290G>T	c.(2290-2292)Ggt>Tgt	p.G764C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	764	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCTGCTGCGGTGGCGGAGG	0.587000													7	20					2.7689e-08	3.24635e-08	0.001984	1	0
MPPED2	744	broad.mit.edu	37	11	30601890	30601890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:30601890C>A	ENST00000448418.2	-	2	391	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	MPPED2_ENST00000358117.5_Missense_Mutation_p.V11F	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	11					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTTATGGTAACTTTGCCTTGA	0.478000													42	8					4.44401e-20	6.64573e-20	0.002522	1	0
SPEM1	374768	broad.mit.edu	37	17	7323846	7323846	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7323846T>A	ENST00000323675.3	+	1	168	c.144_splice	c.e1+1	p.L48_splice	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	48					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATAGTGACCCTGGTCAGGGTG	0.597000													21	55					0	0	0.008871	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36841088	36841088	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:36841088T>C	ENST00000557188.1	+	0	719																											ACCAAGCCACTTCAGCCATAA	0.378000													71	277					0	0	0.003610	0	0
HBE1	3046	broad.mit.edu	37	11	5289756	5289756	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5289756A>T	ENST00000380237.1	-	5	731	c.387T>A	c.(385-387)gcT>gcA	p.A129A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A129A|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	129					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCCAGGCAGCCTGCACTT	0.517000													72	21					0	0	0.003610	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104063301	104063301	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:104063301A>G	ENST00000395862.3	+	5	469	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R29G|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R29G|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R104G	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	104					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTATATAACAAGGTTCCAGTG	0.318000													28	22					0	0	0.009535	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20810184	20810184	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:20810184G>T	ENST00000375078.3	-	2	1035	c.195C>A	c.(193-195)gaC>gaA	p.D65E	CAMK2N1_ENST00000489020.1_5'UTR	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	65	Inhibitory domain (By similarity).					cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		TTTTCAGCACGTCATCAATCC	0.478000													9	50					1.58986e-06	1.77505e-06	0.008291	1	0
KIAA1841	84542	broad.mit.edu	37	2	61333783	61333783	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:61333783G>T	ENST00000402291.1	+	14	1838	c.1597G>T	c.(1597-1599)Ggg>Tgg	p.G533W	KIAA1841_ENST00000356719.2_Missense_Mutation_p.G533W|KIAA1841_ENST00000295031.5_Missense_Mutation_p.G533W|KIAA1841_ENST00000453873.1_Missense_Mutation_p.G533W	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	533										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TCCCAAAACTGGGGAGCTCAA	0.358000													37	50					9.45814e-24	1.49881e-23	0.004878	1	0
C3orf70	285382	broad.mit.edu	37	3	184801010	184801010	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:184801010G>T	ENST00000335012.2	-	2	728	c.538C>A	c.(538-540)Cac>Aac	p.H180N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	180										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAAGAGCAGTGATCTATTTTT	0.498000													35	33					2.20474e-14	2.92131e-14	0.003755	1	0
RSU1P2	100133308	broad.mit.edu	37	10	45602158	45602158	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:45602158G>T	ENST00000423875.1	-	0	1278																											GTGAGATCAGGTCTTTATCCC	0.453000													7	24					5.18039e-06	5.70598e-06	0.003080	1	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	8					6.97489e-18	1.00188e-17	0.004878	1	0
SWAP70	23075	broad.mit.edu	37	11	9749606	9749606	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:9749606A>G	ENST00000318950.6	+	5	752	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	SWAP70_ENST00000447399.2_Missense_Mutation_p.M159V	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	217	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAGGGTTACATGATGAAAAA	0.338000													27	1					0	0	0.004656	0	0
DCT	1638	broad.mit.edu	37	13	95120999	95120999	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:95120999C>A	ENST00000377028.5	-	2	1009		c.e2+1		DCT_ENST00000446125.1_Splice_Site	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAAAAACCCACCTAATAATGT	0.408000													72	51					3.41413e-29	5.73399e-29	0.003610	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52777283	52777283	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:52777283G>T	ENST00000334635.5	+	9	843	c.663G>T	c.(661-663)ttG>ttT	p.L221F	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L161F|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L265F|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	221	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGTGCATGTTGGGACTGTTAT	0.393000													20	44					1.37657e-19	2.03993e-19	0.001882	1	0
ATP12A	479	broad.mit.edu	37	13	25274899	25274899	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25274899T>C	ENST00000218548.6	+	13	2071	c.1738T>C	c.(1738-1740)Tac>Cac	p.Y580H	ATP12A_ENST00000381946.3_Missense_Mutation_p.Y574H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	574					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGTCATCTCTACCTGCCAGC	0.408000													12	7					0	0	0.001368	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378639	114378639	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:114378639G>T	ENST00000312719.5	-	5	2011	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.L275M|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	275					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTTGGAGGCAGATTTAGGAAC	0.428000													30	11					8.88839e-20	1.32116e-19	0.002096	1	0
FAM46B	115572	broad.mit.edu	37	1	27338968	27338968	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:27338968C>T	ENST00000289166.5	-	1	359	c.194G>A	c.(193-195)aGc>aAc	p.S65N		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	65										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AATCGGCTCGCTCAGAAGAGC	0.701000													16	10					0	0	0.003163	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266233	44266233	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:44266233C>A	ENST00000315087.7	-	5	1133	c.473G>T	c.(472-474)cGg>cTg	p.R158L	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R194L|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R127L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	158					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AAACTGGGACCGGTAGTAGGG	0.602000													16	5					0.000422831	0.000445265	0.004007	1	0
SEMA5A	9037	broad.mit.edu	37	5	9066620	9066620	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:9066620C>A	ENST00000382496.5	-	17	2877	c.2212G>T	c.(2212-2214)Gct>Tct	p.A738S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTCGGATCAGCCAGGCGGGCT	0.542000													83	116					1.68737e-39	3.03356e-39	0.003610	1	0
CDH10	1008	broad.mit.edu	37	5	24487969	24487969	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:24487969C>A	ENST00000264463.4	-	12	2677	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	724					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)		GCGGTGGGGTCAAGATCATGC	0.448000										HNSCC(23;0.051)			41	76					7.63091e-17	1.068e-16	0.007835	1	0
C6	729	broad.mit.edu	37	5	41154084	41154084	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41154084C>T	ENST00000263413.3	-	15	2382	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	C6_ENST00000337836.5_Silent_p.K706K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	706	C5b-binding domain.|Sushi 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)				GCACAACTGGCTTGATGCACT	0.413000													14	76					0	0	0.002450	0	0
NID1	4811	broad.mit.edu	37	1	236201413	236201413	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:236201413C>A	ENST00000264187.6	-	5	1358	c.1276G>T	c.(1276-1278)Gtt>Ttt	p.V426F	NID1_ENST00000366595.3_Missense_Mutation_p.V426F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	426	EGF-like 1.				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)	CCTTCTGCAACACATTGCCTG	0.522000													51	19					7.34454e-26	1.1947e-25	0.003610	1	0
OR9A2	135924	broad.mit.edu	37	7	142723979	142723979	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142723979G>T	ENST00000350513.2	-	1	303	c.241C>A	c.(241-243)Ctt>Att	p.L81I		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AATCCCCAAAGCATCATGGGG	0.478000													24	40					6.21321e-17	8.70825e-17	0.002780	1	0
NPAP1	23742	broad.mit.edu	37	15	24921679	24921679	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24921679G>T	ENST00000329468.2	+	1	1139	c.665G>T	c.(664-666)aGt>aTt	p.S222I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AACAGCATGAGTGAGAAGGCC	0.617000													18	13					2.35188e-11	2.95678e-11	0.006122	1	0
ABCC2	1244	broad.mit.edu	37	10	101610458	101610458	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:101610458A>G	ENST00000370449.4	+	31	4526	c.4413A>G	c.(4411-4413)acA>acG	p.T1471T		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1471	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATCTAGAGACAGACAACCTCA	0.572000													50	22					0	0	0.003610	0	0
PSMD11	5717	broad.mit.edu	37	17	30774031	30774031	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:30774031G>A	ENST00000261712.3	+	2	423	c.160G>A	c.(160-162)Gga>Aga	p.G54R	PSMD11_ENST00000457654.2_Missense_Mutation_p.G54R	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	54					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|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	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CCTGGAACTGGGATCTCTCCT	0.453000													23	53					0	0	0.004656	0	0
CRIP2	1397	broad.mit.edu	37	14	105945464	105945464	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105945464G>A	ENST00000329146.4	+	6	1122	c.409G>A	c.(409-411)Gag>Aag	p.E137K	CRIP2_ENST00000483017.3_Missense_Mutation_p.E211K|CRIP2_ENST00000548989.1_3'UTR	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	137	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		CTTTCCAGCTGAGAAGGTGAC	0.736000													17	5					0	0	0.007413	0	0
ITGA1	3672	broad.mit.edu	37	5	52216286	52216286	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:52216286C>T	ENST00000282588.6	+	17	2738	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	760					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTAAGCACTCCTTCTACATGT	0.348000													15	44					0	0	0.002450	0	0
PROS1	5627	broad.mit.edu	37	3	93603583	93603583	+	Missense_Mutation	SNP	T	T	G	rs5017713		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:93603583T>G	ENST00000394236.3	-	12	1797	c.1481A>C	c.(1480-1482)cAc>cCc	p.H494P	PROS1_ENST00000407433.1_Missense_Mutation_p.H363P	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	494	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATAATCTATGTGAAATTGAGC	0.289000													7	24					0	0	0.004482	0	0
SLC25A44	9673	broad.mit.edu	37	1	156169978	156169978	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156169978G>T	ENST00000359511.4	+	2	512	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.V114L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	114					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAAATCACTGGTGGCTGGTGG	0.527000													24	24					2.44723e-14	3.23608e-14	0.004656	1	0
UNC13C	440279	broad.mit.edu	37	15	54306850	54306850	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:54306850C>A	ENST00000545554.1	+	1	1750	c.1750C>A	c.(1750-1752)Cgg>Agg	p.R584R	UNC13C_ENST00000260323.11_Silent_p.R584R|UNC13C_ENST00000537900.1_Silent_p.R584R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	584					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)		ATCTTCGGACCGGGAGCTATG	0.453000													18	7					5.01169e-05	5.41693e-05	0.004990	1	0
STC2	8614	broad.mit.edu	37	5	172752989	172752989	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:172752989T>A	ENST00000265087.4	-	2	1485	c.176A>T	c.(175-177)aAc>aTc	p.N59I		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	59					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCGCCAGCGTTGACCAAACA	0.443000													112	25					0	0	0.003610	0	0
TRPM7	54822	broad.mit.edu	37	15	50905990	50905990	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:50905990G>A	ENST00000313478.7	-	15	1965	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H562Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	562					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAAGATTCATGACTCTTTCGC	0.383000													7	18					0	0	0.004482	0	0
TIAM2	26230	broad.mit.edu	37	6	155498024	155498024	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:155498024T>C	ENST00000461783.3	+	12	3709	c.2436T>C	c.(2434-2436)acT>acC	p.T812T	TIAM2_ENST00000456144.1_Silent_p.T812T|TIAM2_ENST00000318981.5_Silent_p.T812T|TIAM2_ENST00000367174.2_Silent_p.T188T|TIAM2_ENST00000456877.2_Silent_p.T124T|TIAM2_ENST00000529824.2_Silent_p.T812T|TIAM2_ENST00000360366.4_Silent_p.T836T|TIAM2_ENST00000528391.2_Silent_p.T148T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	812	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAATCCAGACTTATGTCCACT	0.428000													23	17					0	0	0.002780	0	0
MON1B	22879	broad.mit.edu	37	16	77227493	77227493	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:77227493G>A	ENST00000248248.3	+	3	644	c.294G>A	c.(292-294)ggG>ggA	p.G98G	MON1B_ENST00000320859.6_Silent_p.G98G|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000439557.2_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	98							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCAGGGCGGGGACCCCAGTG	0.617000													19	15					0	0	0.007413	0	0
MAP7	9053	broad.mit.edu	37	6	136687148	136687148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:136687148G>A	ENST00000354570.3	-	10	1408	c.998C>T	c.(997-999)tCc>tTc	p.S333F	MAP7_ENST00000454590.1_Missense_Mutation_p.S355F|MAP7_ENST00000438100.2_Missense_Mutation_p.S318F|MAP7_ENST00000432797.2_Missense_Mutation_p.S187F|MAP7_ENST00000544465.1_Missense_Mutation_p.S318F	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	333	Pro-rich.				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)		AAGAGACTTGGACGGAAGCCT	0.572000													21	7					0	0	0.008871	0	0
CCDC117	150275	broad.mit.edu	37	22	29182289	29182289	+	Missense_Mutation	SNP	G	G	T	rs9613680		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:29182289G>T	ENST00000249064.4	+	5	991	c.815G>T	c.(814-816)aGc>aTc	p.S272I	CCDC117_ENST00000448492.2_Missense_Mutation_p.S254I|CCDC117_ENST00000443309.2_Missense_Mutation_p.S140I|CCDC117_ENST00000421503.2_Missense_Mutation_p.S197I	NM_173510.2	NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	272			S -> N (in dbSNP:rs9613680).							breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						ACAGCTACTAGCACAGAAGAA	0.418000													62	9					1.1362e-29	1.92137e-29	0.003610	1	0
C10orf137	26098	broad.mit.edu	37	10	127426992	127426992	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:127426992G>T	ENST00000337623.3	+	14	1962	c.1857G>T	c.(1855-1857)caG>caT	p.Q619H	C10orf137_ENST00000356792.4_Missense_Mutation_p.Q653H	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TAGAGAAGCAGATGGCCTTGT	0.428000													30	9					2.61193e-14	3.45154e-14	0.009535	1	0
ATG14	22863	broad.mit.edu	37	14	55848823	55848823	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55848823T>G	ENST00000247178.5	-	6	769	c.734A>C	c.(733-735)tAc>tCc	p.Y245S		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	245					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCCTGAGAGGTAAGTTGTCCT	0.537000													21	106					0	0	0.010504	0	0
GRIK2	2898	broad.mit.edu	37	6	102069914	102069914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:102069914C>A	ENST00000369138.1	+	2	696	c.206C>A	c.(205-207)aCa>aAa	p.T69K	GRIK2_ENST00000369137.3_Missense_Mutation_p.T69K|GRIK2_ENST00000421544.1_Missense_Mutation_p.T69K|GRIK2_ENST00000369134.4_Missense_Mutation_p.T20K|GRIK2_ENST00000358361.3_Missense_Mutation_p.T69K|GRIK2_ENST00000413795.1_Missense_Mutation_p.T69K|GRIK2_ENST00000318991.6_Missense_Mutation_p.T69K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	69					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGAAACAGAACATTGCTACCC	0.368000													31	11					4.74835e-14	6.24951e-14	0.002096	1	0
CLEC17A	388512	broad.mit.edu	37	19	14710863	14710863	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:14710863C>A	ENST00000547437.1	+	12	840	c.763C>A	c.(763-765)Cct>Act	p.P255T	CLEC17A_ENST00000417570.1_Missense_Mutation_p.P255T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P238T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	255						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AATTACCTGTCCTGAAGGCTG	0.537000													33	12					4.34311e-12	5.50949e-12	0.003271	1	0
RPL13A	23521	broad.mit.edu	37	19	49993753	49993753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:49993753G>T	ENST00000391857.4	+	4	252	c.176G>T	c.(175-177)cGc>cTc	p.R59L	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GCTTTCCTCCGCAAGCGGATG	0.627000													42	9					6.31075e-24	1.00248e-23	0.003610	1	0
SLC15A2	6565	broad.mit.edu	37	3	121643199	121643199	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121643199G>C	ENST00000489711.1	+	12	1392	c.1002_splice	c.e12-1	p.G335_splice	SLC15A2_ENST00000295605.2_Splice_Site_p.G304_splice	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATGTTTCAGGGGTTTTTTGTG	0.368000													37	109					0	0	0.007835	0	0
PTPRT	11122	broad.mit.edu	37	20	40979280	40979280	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:40979280C>T	ENST00000373198.3	-	11	2088	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PTPRT_ENST00000356100.2_Missense_Mutation_p.G618E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G618E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G618E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G618E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G618E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G618E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	618	Fibronectin type-III 4.				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)				GACAGGAGCTCCCCGGGACTG	0.537000													72	16					0	0	0.003610	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310583	57310583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:57310583C>A	ENST00000457912.1	+	2	522	c.522C>A	c.(520-522)gaC>gaA	p.D174E	SMTNL1_ENST00000399154.2_Missense_Mutation_p.D156E|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D156E			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	156										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						ATGCCAATGACAGAGACAAGC	0.552000													12	12					7.03913e-09	8.38296e-09	0.001368	1	0
PLXDC2	84898	broad.mit.edu	37	10	20335798	20335798	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:20335798G>C	ENST00000377252.3	+	3	1166	c.324_splice	c.e3-1	p.E109_splice	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	109						integral to membrane		p.E109*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATTATTGCAGGAGGATACAGA	0.313000													86	10					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3238188	3238188	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:3238188G>T	ENST00000217939.6	-	5	5692	c.5538C>A	c.(5536-5538)ttC>ttA	p.F1846L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1846						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAGAGACCAGAATTTGGATG	0.507000													25	7					3.28513e-13	4.25249e-13	0.003954	1	0
SLC24A4	123041	broad.mit.edu	37	14	92792257	92792257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:92792257G>T	ENST00000532405.1	+	2	402	c.176G>T	c.(175-177)tGg>tTg	p.W59L	SLC24A4_ENST00000351924.5_Missense_Mutation_p.W42L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.W42L|SLC24A4_ENST00000393265.2_5'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.W59L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	59						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCAGACACGTGGAGAAATAGA	0.463000													6	4					5.9392e-07	6.69566e-07	0.001168	1	0
ATG14	22863	broad.mit.edu	37	14	55848839	55848839	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55848839C>A	ENST00000247178.5	-	6	753	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	240					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTCCTCCGGGCTTCAGCAAGC	0.522000													60	50					8.52622e-23	1.32863e-22	0.003610	1	0
MYOZ3	91977	broad.mit.edu	37	5	150056314	150056314	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:150056314C>A	ENST00000520112.1	+	2	492	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Silent_p.P211P|MYOZ3_ENST00000297130.4_Silent_p.P211P			Q8TDC0	MYOZ3_HUMAN	myozenin 3	127						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACTTTTCCCAGGCCAGGCA	0.637000													87	18					5.00163e-47	9.19383e-47	0.003610	1	0
OR4C15	81309	broad.mit.edu	37	11	55322684	55322684	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55322684T>G	ENST00000314644.2	+	1	902	c.902T>G	c.(901-903)aTt>aGt	p.I301S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGTTGTGATTTTGTTCTTT	0.428000										HNSCC(20;0.049)			42	112					0	0	0.008740	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195869	132195869	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:132195869G>A	ENST00000261674.4	+	1	236	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R32Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	32					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGGGGCAGCCGAGTGGAGCTC	0.697000													17	35					0	0	0.004990	0	0
AP2M1	1173	broad.mit.edu	37	3	183899836	183899836	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183899836G>A	ENST00000382456.3	+	8	1271		c.e8+1		EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Splice_Site|AP2M1_ENST00000292807.5_Splice_Site|AP2M1_ENST00000461733.1_Splice_Site|AP2M1_ENST00000439647.1_Splice_Site	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGATCGAGGTGAGGACAGG	0.532000													5	23					0	0	0.000602	0	0
NEK10	152110	broad.mit.edu	37	3	27233735	27233735	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:27233735T>A	ENST00000429845.2	-	27	2654		c.e27-2		NEK10_ENST00000295720.6_Splice_Site|NEK10_ENST00000383770.3_Splice_Site|NEK10_ENST00000383771.4_Splice_Site|NEK10_ENST00000498182.1_Splice_Site|NEK10_ENST00000357467.2_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTGAGGCACCTAAGATAACAT	0.413000													10	19					0	0	0.008291	0	0
SAMD9	54809	broad.mit.edu	37	7	92730661	92730661	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92730661A>T	ENST00000379958.2	-	3	5019	c.4750T>A	c.(4750-4752)Tat>Aat	p.Y1584N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1584						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAATGTCATAAGCAAGTGGG	0.388000													85	20					0	0	0.003610	0	0
COLCA1	399948	broad.mit.edu	37	11	111166978	111166978	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:111166978T>A	ENST00000532918.1	-	2	2631	c.226A>T	c.(226-228)Agc>Tgc	p.S76C	C11orf92_ENST00000355430.4_Missense_Mutation_p.S76C|C11orf92_ENST00000540738.1_Missense_Mutation_p.S76C																endometrium(1)|large_intestine(1)|lung(1)	3						CCATAAAGGCTGCTGGAGGTT	0.537000													17	50					0	0	0.006122	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702221	187702221	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:187702221A>T	ENST00000295131.2	-	5	594	c.555T>A	c.(553-555)agT>agA	p.S185R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	185					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTTTGATGTACTCTGATAAT	0.343000													16	21					0	0	0.003163	0	0
MYT1	4661	broad.mit.edu	37	20	62848565	62848565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62848565C>T	ENST00000536311.1	+	11	2141	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q593*|MYT1_ENST00000360149.4_Nonsense_Mutation_p.Q295*			Q01538	MYT1_HUMAN	myelin transcription factor 1	593					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCGATGCTCAGGTTTTTGG	0.522000													58	99					0	0	0.003610	0	0
MYRF	745	broad.mit.edu	37	11	61553285	61553285	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:61553285G>A	ENST00000278836.5	+	26	3410	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	MYRF_ENST00000265460.5_Missense_Mutation_p.R1065Q|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.R491Q	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		ACCTCTCACCGGTGGCCAATA	0.617000													26	60					0	0	0.006320	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667871	117667871	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117667871C>G	ENST00000321322.6	-	1	105	c.104G>C	c.(103-105)cGc>cCc	p.R35P		NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGCTCAGCGCGCTCCCAGCC	0.721000													6	20					0	0	0.001168	0	0
PAIP2	51247	broad.mit.edu	37	5	138704432	138704432	+	Missense_Mutation	SNP	A	A	T	rs151272131		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:138704432A>T	ENST00000394795.2	+	4	1320	c.329A>T	c.(328-330)aAt>aTt	p.N110I	PAIP2_ENST00000510080.1_Missense_Mutation_p.N110I|SLC23A1_ENST00000353963.3_Intron|SLC23A1_ENST00000348729.3_Intron|PAIP2_ENST00000511706.1_Missense_Mutation_p.N50I|PAIP2_ENST00000503553.2_Intron|PAIP2_ENST00000265192.4_Missense_Mutation_p.N110I			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	110	PABPC1-interacting motif-2 (PAM2).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCAAGAGCAATCTGAATCCA	0.388000													38	11					0	0	0.002522	0	0
KCNH5	27133	broad.mit.edu	37	14	63175062	63175062	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:63175062G>T	ENST00000322893.7	-	11	2399	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	711	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGAACTTCTGGAAGAGCTTT	0.547000													42	89					1.22674e-20	1.85427e-20	0.008740	1	0
DAB1	1600	broad.mit.edu	37	1	57538066	57538066	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:57538066C>A	ENST00000371236.2	-	5	591	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	DAB1_ENST00000371230.1_Missense_Mutation_p.V110F|DAB1_ENST00000420954.2_Missense_Mutation_p.V110F|DAB1_ENST00000414851.2_Missense_Mutation_p.V110F|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.V110F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.V110F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	110	PID.				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						ATTTCATGAACAGCATGATGA	0.408000													43	29					6.1244e-12	7.76416e-12	0.007835	1	0
GIMAP4	55303	broad.mit.edu	37	7	150266999	150266999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150266999C>T	ENST00000255945.2	+	2	185	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	GIMAP4_ENST00000461940.1_Nonsense_Mutation_p.Q4*|GIMAP4_ENST00000494750.1_Intron	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	4							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)		AATGGCAGCCCAATACGGCAG	0.512000													31	7					0	0	0.004878	0	0
SETD1A	9739	broad.mit.edu	37	16	30977498	30977498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30977498G>T	ENST00000262519.8	+	8	2982	c.2296G>T	c.(2296-2298)Gga>Tga	p.G766*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	766					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						CTCAGTCTCGGGAGAGGAGGC	0.677000													16	13					6.72482e-11	8.35289e-11	0.003163	1	0
ACOT12	134526	broad.mit.edu	37	5	80641822	80641822	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:80641822G>T	ENST00000307624.3	-	7	683	c.653_splice	c.e7-1	p.R219_splice		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	219	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAACACAGGCGGCTGGGGAGA	0.443000													23	6					7.4402e-23	1.16124e-22	0.003954	1	0
UBBP4	23666	broad.mit.edu	37	17	21731600	21731600	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:21731600G>A	ENST00000578713.1	+	2	679	c.675G>A	c.(673-675)ctG>ctA	p.L225L	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCCTGCGCCTGAGGGGTGGCT	0.498000													11	12					0	0	0.001368	0	0
USP5	8078	broad.mit.edu	37	12	6965198	6965198	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6965198G>T	ENST00000229268.8	+	4	374	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	USP5_ENST00000389231.5_Missense_Mutation_p.D108Y	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	108					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGGCGGATTTGACCTTAGCGA	0.522000													118	29					1.14919e-56	2.1568e-56	0.003610	1	0
SACS	26278	broad.mit.edu	37	13	23905743	23905743	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:23905743G>C	ENST00000382298.3	-	10	12860	c.12272C>G	c.(12271-12273)tCa>tGa	p.S4091*	SACS_ENST00000382292.3_Nonsense_Mutation_p.S4091*|SACS_ENST00000402364.1_Nonsense_Mutation_p.S3341*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4091					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)		TTTACTGTCTGAATGTTGAAT	0.343000													22	3					0	0	0.001882	0	0
SAMD9	54809	broad.mit.edu	37	7	92734566	92734566	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92734566T>A	ENST00000379958.2	-	3	1114	c.845A>T	c.(844-846)aAg>aTg	p.K282M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	282						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGAATGCACTTCTTTGCTTG	0.378000													47	5					0	0	0.003214	0	0
HERC2	8924	broad.mit.edu	37	15	28413635	28413635	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28413635C>A	ENST00000261609.7	-	67	10439	c.10331G>T	c.(10330-10332)aGt>aTt	p.S3444I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3444					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCATGGGACTAGCCATCGC	0.562000													78	134					9.35349e-44	1.70656e-43	0.003610	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	G	rs112430320		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:43771274C>G	ENST00000389420.3	-	32	4888	c.4889G>C	c.(4888-4890)cGg>cCg	p.R1630P		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14.					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)		AACTATAGGCCGAAGTCGATG	0.413000													19	9					0	0	0.010504	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620698	144620698	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144620698C>A	ENST00000262577.5	-	2	870	c.839G>T	c.(838-840)gGg>gTg	p.G280V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	280					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGCGGGGCCCCCCACTGAGCC	0.612000													47	63					2.27781e-18	3.29838e-18	0.003610	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038193	62038193	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62038193G>T	ENST00000354587.3	-	17	2623	c.2447C>A	c.(2446-2448)tCc>tAc	p.S816Y	KCNQ2_ENST00000344462.3_Missense_Mutation_p.S804Y|KCNQ2_ENST00000370226.1_Missense_Mutation_p.S778Y|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S790Y|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S816Y|KCNQ2_ENST00000359125.2_Missense_Mutation_p.S808Y|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S780Y|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S808Y|KCNQ2_ENST00000430658.1_Missense_Mutation_p.S777Y			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	808					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTTGGACTGGGAGATGCTGAA	0.637000													17	26					3.41278e-10	4.17827e-10	0.004990	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251623	24251623	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:24251623C>T	ENST00000538205.1	+	5	636	c.89C>T	c.(88-90)cCc>cTc	p.P30L	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P30L|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P109L	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	109					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)		TTGTACTCACCCAGAGGAGAG	0.463000													7	4					0	0	0.004482	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695896	64695896	+	Splice_Site	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64695896C>T	ENST00000164133.2	+	6	1343	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CATCTTCCTCCGGTGAGTGGC	0.607000													63	43					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477432	25477432	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25477432G>T	ENST00000453082.2	+	0	1654					NR_003343.1																						CCGATGCGCTGAAGCTCAAGC	0.617000													15	46					1.49906e-05	1.63647e-05	0.002450	1	0
POTEA	340441	broad.mit.edu	37	8	43197396	43197396	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:43197396G>A	ENST00000522175.2	+	0	1149							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATAGCGTCAGAGGATTATGA	0.358000													22	58					0	0	0.010504	0	0
MATN2	4147	broad.mit.edu	37	8	98900453	98900453	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:98900453C>A	ENST00000254898.5	+	2	356	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	MATN2_ENST00000521689.1_Missense_Mutation_p.P42Q|MATN2_ENST00000520016.1_Missense_Mutation_p.P42Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.P42Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	42						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)			CGGACCCACCCGCAGACGGCC	0.642000													4	6					0.00024832	0.000262197	0.009096	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30547109	30547109	+	Missense_Mutation	SNP	G	G	C	rs149210929		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:30547109G>C	ENST00000399935.2	+	10	992	c.325G>C	c.(325-327)Gct>Cct	p.A109P	MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.A103P|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.A209P|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.A209P					MAP3K7 C-terminal like																		GGAATTCGAGGCTCTGACGGA	0.522000													57	9					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2832080	2832080	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:2832080C>A	ENST00000602557.1	-	57	9191	c.8636G>T	c.(8635-8637)gGc>gTc	p.G2879V	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2820V|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2879V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2821V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2878V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2821V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2879	Sushi 21.					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)		CACGACGGCGCCATAGGTAAA	0.562000													7	0					8.12818e-05	8.68982e-05	0.001984	1	0
SLC30A10	55532	broad.mit.edu	37	1	220101623	220101623	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:220101623C>G	ENST00000366926.3	-	1	321	c.160G>C	c.(160-162)Ggc>Cgc	p.G54R	SLC30A10_ENST00000536992.1_Missense_Mutation_p.G54R|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	54					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCGCTCAGGCCCACGCACAGC	0.697000													11	2					0	0	0.008291	0	0
ID4	3400	broad.mit.edu	37	6	19838366	19838366	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:19838366G>T	ENST00000378700.3	+	1	750	c.381G>T	c.(379-381)ccG>ccT	p.P127P	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	127							transcription corepressor activity			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CACACCACCCGGCCGGGACCT	0.761000													14	20					3.27435e-08	3.823e-08	0.002450	1	0
KPRP	448834	broad.mit.edu	37	1	152733137	152733137	+	Missense_Mutation	SNP	G	G	C	rs150376386	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152733137G>C	ENST00000368773.1	+	2	1131	c.1073G>C	c.(1072-1074)gGc>gCc	p.G358A	KPRP_ENST00000606109.1_Missense_Mutation_p.G358A	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	358	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGCTGTGGCCCGCAGCCC	0.647000													27	36					0	0	0.004656	0	0
FLRT3	23767	broad.mit.edu	37	20	14307564	14307564	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:14307564C>A	ENST00000378053.3	-	2	845	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FLRT3_ENST00000341420.4_Missense_Mutation_p.G197C|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	197					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G197C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTAGTGAGACCTTGAAGAGAT	0.408000													59	24					7.47603e-22	1.154e-21	0.003610	1	0
RGS6	9628	broad.mit.edu	37	14	72431520	72431520	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72431520A>T	ENST00000553530.1	+	2	219	c.12A>T	c.(10-12)ggA>ggT	p.G4G	RGS6_ENST00000407322.4_Silent_p.G4G|RGS6_ENST00000553525.1_Silent_p.G4G|RGS6_ENST00000355512.6_Silent_p.G4G|RGS6_ENST00000343854.6_Silent_p.G4G|RGS6_ENST00000404301.2_Silent_p.G4G|RGS6_ENST00000402788.2_Silent_p.G4G|RGS6_ENST00000406236.4_Silent_p.G4G|RGS6_ENST00000556437.1_Silent_p.G4G|RGS6_ENST00000555571.1_Silent_p.G4G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	4					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGGCTCAAGGATCCGGGGATC	0.458000													39	35					0	0	0.008740	0	0
TTC14	151613	broad.mit.edu	37	3	180324138	180324138	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:180324138G>A	ENST00000412756.2	+	8	1096	c.1027G>A	c.(1027-1029)Gct>Act	p.A343T	TTC14_ENST00000296015.4_Missense_Mutation_p.A343T|TTC14_ENST00000382584.4_Missense_Mutation_p.A343T	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	343							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	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)			AAACGTGGAAGCTTTGGTAGC	0.368000													19	48					0	0	0.007413	0	0
NXF4	55999	broad.mit.edu	37	X	101818239	101818239	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101818239G>T	ENST00000360035.2	+	0	829					NR_002216.1															endometrium(2)|lung(8)	10						GGGCAAGTAGGGGCAGAGCAG	0.542000													62	17					6.20943e-19	9.09205e-19	0.003610	1	0
MAGEB10	139422	broad.mit.edu	37	X	27839475	27839475	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:27839475G>T	ENST00000356790.2	+	3	297	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	18								p.A18S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ACGCCGTCAGGCCCGAGGAGG	0.522000													13	6					3.27435e-08	3.823e-08	0.002450	1	0
POTEC	388468	broad.mit.edu	37	18	14542844	14542844	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:14542844C>A	ENST00000358970.5	-	1	301	c.302G>T	c.(301-303)tGg>tTg	p.W101L	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	101										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTGACAGCACCACTTGCCCAT	0.617000													156	87					1.48473e-56	2.78387e-56	0.003610	1	0
CEP170B	283638	broad.mit.edu	37	14	105353376	105353376	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353376G>A	ENST00000453495.1	+	12	3031	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	CEP170B_ENST00000414716.3_Missense_Mutation_p.D934N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D864N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D864N					centrosomal protein 170B																		TAATTCTGTGGATGCCGAGTG	0.672000													7	13					0	0	0.008871	0	0
RYR1	6261	broad.mit.edu	37	19	38939429	38939429	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:38939429G>A	ENST00000355481.4	+	11	1229	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	RYR1_ENST00000359596.3_Silent_p.L366L|RYR1_ENST00000360985.3_Silent_p.L366L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	366	MIR 5.				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)	CCAAGGCCCTGCGGCTCGGCG	0.607000													32	5					0	0	0.002445	0	0
GBP2	2634	broad.mit.edu	37	1	89575510	89575510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:89575510C>A	ENST00000370466.3	-	10	1777	c.1509G>T	c.(1507-1509)atG>atT	p.M503I		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	503					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTCCTCCAACATTTTCTTTG	0.373000													7	35					8.12818e-05	8.68982e-05	0.001984	1	0
GLRA4	441509	broad.mit.edu	37	X	102979467	102979467	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:102979467A>T	ENST00000372617.4	-	3	691		c.e3+1			NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4							cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGATCCCTTACCATTGTGGT	0.542000													4	0					0	0	0.000602	0	0
OR2T3	343173	broad.mit.edu	37	1	248636956	248636956	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:248636956G>T	ENST00000359594.2	+	1	330	c.305G>T	c.(304-306)tGt>tTt	p.C102F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CCGTCAGGCTGTGGGATCCAG	0.557000													37	8					1.48734e-19	2.20242e-19	0.003214	1	0
SLC25A13	10165	broad.mit.edu	37	7	95906644	95906644	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:95906644T>C	ENST00000416240.2	-	3	266	c.76A>G	c.(76-78)Agc>Ggc	p.S26G	SLC25A13_ENST00000542654.1_5'UTR|SLC25A13_ENST00000265631.5_Missense_Mutation_p.S26G	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	26					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTCAATGCTTGCATACTGT	0.313000													12	0					0	0	0.001368	0	0
ZNF182	7569	broad.mit.edu	37	X	47836120	47836120	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:47836120T>A	ENST00000396965.1	-	7	1716	c.1366A>T	c.(1366-1368)Aaa>Taa	p.K456*	ZNF182_ENST00000376943.3_Nonsense_Mutation_p.K437*|ZNF182_ENST00000305127.6_Nonsense_Mutation_p.K456*	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCAAAGGGTTTCTCTCCTGAA	0.428000													16	4					0	0	0.003163	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062088	66062088	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:66062088C>A	ENST00000327259.4	+	2	515	c.371C>A	c.(370-372)tCc>tAc	p.S124Y		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	124						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CACGTGCGGTCCTGCCAGGCG	0.687000													9	23					0.000442599	0.000465084	0.006214	1	0
OR4P4	81300	broad.mit.edu	37	11	55406660	55406660	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55406660T>C	ENST00000314612.2	+	1	827	c.827T>C	c.(826-828)aTt>aCt	p.I276T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATACCATCATTGCTCCCATG	0.398000													11	66					0	0	0.000978	0	0
EGFR	1956	broad.mit.edu	37	7	55225444	55225444	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55225444A>T	ENST00000275493.2	+	11	1473	c.1296A>T	c.(1294-1296)caA>caT	p.Q432H	EGFR_ENST00000344576.2_Missense_Mutation_p.Q432H|EGFR_ENST00000342916.3_Missense_Mutation_p.Q432H|EGFR_ENST00000455089.1_Missense_Mutation_p.Q387H|EGFR_ENST00000454757.2_Missense_Mutation_p.Q379H|EGFR_ENST00000442591.1_Missense_Mutation_p.Q432H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	432					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGACCAAGCAACAGTAAGTTG	0.473000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			35	71					0	0	0.004878	0	0
GPR112	139378	broad.mit.edu	37	X	135427303	135427303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:135427303G>T	ENST00000394143.1	+	6	1729	c.1438G>T	c.(1438-1440)Gta>Tta	p.V480L	GPR112_ENST00000394141.1_Missense_Mutation_p.V275L|GPR112_ENST00000370652.1_Missense_Mutation_p.V480L|GPR112_ENST00000412101.1_Missense_Mutation_p.V275L|GPR112_ENST00000287534.4_Missense_Mutation_p.V417L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	480					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)					AGCTGCTCCAGTAGATTCTGT	0.443000													35	4					3.66082e-28	6.10136e-28	0.005524	1	0
MUC16	94025	broad.mit.edu	37	19	9067730	9067730	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9067730C>T	ENST00000397910.4	-	3	19919	c.19716G>A	c.(19714-19716)aaG>aaA	p.K6572K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6574	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						TAGTCGGTATCTTATGTGAGG	0.453000													56	14					0	0	0.003610	0	0
NIM1K	167359	broad.mit.edu	37	5	43245913	43245913	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:43245913G>T	ENST00000512796.1	+	2	1535	c.36G>T	c.(34-36)gtG>gtT	p.V12V	NIM1_ENST00000326035.2_Silent_p.V12V			Q8IY84	NIM1_HUMAN		12							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GTGGCCTGGTGAACCCCCACT	0.607000													86	227					5.56898e-48	1.02655e-47	0.003610	1	0
TLL2	7093	broad.mit.edu	37	10	98157013	98157013	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98157013G>A	ENST00000357947.3	-	11	1539	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	438	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAGCCGGCTGTCCGTGGAGA	0.577000													26	8					0	0	0.003330	0	0
OR52N1	79473	broad.mit.edu	37	11	5809569	5809569	+	Missense_Mutation	SNP	G	G	T	rs149811568		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5809569G>T	ENST00000317078.1	-	1	477	c.478C>A	c.(478-480)Cct>Act	p.P160T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAGTGGAAGGGATAACAAGC	0.498000													35	3					1.99505e-19	2.94536e-19	0.002445	1	0
FAM47A	158724	broad.mit.edu	37	X	34150015	34150015	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34150015G>T	ENST00000346193.3	-	1	432	c.381C>A	c.(379-381)gcC>gcA	p.A127A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	127										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						AGGGATGCTTGGCCATTAGCT	0.542000													32	6					1.22384e-17	1.75152e-17	0.002836	1	0
MYH8	4626	broad.mit.edu	37	17	10303742	10303742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10303742G>T	ENST00000403437.2	-	27	3794	c.3700C>A	c.(3700-3702)Ctc>Atc	p.L1234I	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	1234					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						TTACTGCTGAGGTCATCAGTC	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				51	140					5.39261e-20	8.05204e-20	0.003610	1	0
MYO3B	140469	broad.mit.edu	37	2	171225814	171225814	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:171225814G>T	ENST00000334231.6	+	9	925	c.925G>T	c.(925-927)Gtt>Ttt	p.V309F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V300F|MYO3B_ENST00000408978.4_Missense_Mutation_p.V300F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	300			K -> E (in dbSNP:rs4668246).		response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATGGAAAAGTTCTGTTTCT	0.418000													20	23					5.03518e-11	6.278e-11	0.007413	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291177	5291177	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:5291177G>A	ENST00000357006.4	-	4	1368	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R344C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		TCTGGGGCACGGATAAATGAT	0.448000													107	14					0	0	0.003610	0	0
RFFL	117584	broad.mit.edu	37	17	33348594	33348594	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33348594C>G	ENST00000315249.7	-	3	609	c.387G>C	c.(385-387)ctG>ctC	p.L129L	RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Silent_p.L129L|RFFL_ENST00000378516.2_Silent_p.L129L|RFFL_ENST00000394597.2_Silent_p.L129L|RFFL_ENST00000415395.2_Silent_p.L129L|RFFL_ENST00000447669.2_Silent_p.L129L|RFFL_ENST00000413582.2_Silent_p.L129L|RFFL_ENST00000584655.1_Silent_p.L129L			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	129					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAAGAGCACCAGCTCTTCTT	0.552000													17	30					0	0	0.006122	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629419	1629419	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:1629419A>T	ENST00000399685.1	-	1	274	c.197T>A	c.(196-198)gTc>gAc	p.V66D		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	66	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGAGCCACAGACCCCCTTGGA	0.672000													83	98					0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692873	26692873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26692873C>A	ENST00000529632.2	+	4	1185	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S330Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S330Y|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S103Y|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S330Y|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S103Y|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S330Y	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	330	CUB 1.					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						GTGAACCTGTCCGATGGGGAA	0.577000													40	4					8.16277e-20	1.21606e-19	0.006999	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156323	70156323	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:70156323C>G	ENST00000335568.5	+	5	1106	c.1104C>G	c.(1102-1104)acC>acG	p.T368T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	368					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTCCAAAAACCAGAGCTTTTA	0.383000													25	44					0	0	0.008361	0	0
SAGE1	55511	broad.mit.edu	37	X	134990679	134990679	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:134990679T>C	ENST00000535938.1	+	12	1511	c.1344T>C	c.(1342-1344)aaT>aaC	p.N448N	SAGE1_ENST00000324447.3_Silent_p.N448N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.N448N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	448										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)					GGATGGAAAATGGCCAACGAA	0.433000													34	7					0	0	0.002836	0	0
ECM1	1893	broad.mit.edu	37	1	150483557	150483557	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:150483557G>A	ENST00000369047.4	+	6	716	c.591G>A	c.(589-591)caG>caA	p.Q197Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.Q197Q|ECM1_ENST00000369049.4_Silent_p.Q224Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	197	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACCTACCACAGTCCAGCTACT	0.572000													88	102					0	0	0.003610	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963186	88963186	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:88963186C>A	ENST00000333190.4	+	4	1499	c.890C>A	c.(889-891)tCc>tAc	p.S297Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	297						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATACCATCTCCATAAACTCT	0.353000										HNSCC(36;0.09)			23	9					4.26978e-12	5.41997e-12	0.003330	1	0
CHRM2	1129	broad.mit.edu	37	7	136700959	136700959	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:136700959G>A	ENST00000445907.2	+	3	1875	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.K449K|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.K449K|CHRM2_ENST00000402486.3_Silent_p.K449K|CHRM2_ENST00000397608.3_Silent_p.K449K|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Silent_p.K449K|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	449					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)	CCTTCAAGAAGACCTTTAAAC	0.433000													71	15					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21426388	21426388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:21426388G>T	ENST00000313654.9	+	31	4088	c.3847G>T	c.(3847-3849)Ggg>Tgg	p.G1283W	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1283W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1283	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGAGGGTGGGCAGTGCCC	0.657000													96	18					1.3009e-50	2.41842e-50	0.003610	1	0
TNKS	8658	broad.mit.edu	37	8	9634226	9634226	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:9634226G>C	ENST00000310430.6	+	27	3990	c.3964G>C	c.(3964-3966)Gcc>Ccc	p.A1322P	TNKS_ENST00000518281.1_Missense_Mutation_p.A1085P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1322					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GACCGCAACAGCCGCAGAGCA	0.468000													16	7					0	0	0.004990	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517310	65517310	+	Nonsense_Mutation	SNP	G	G	A	rs72554620		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:65517310G>A	ENST00000310193.3	-	5	1335	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCTCCCTTTCGCACACAGTAG	0.453000													53	40					0	0	0.003610	0	0
TAC1	6863	broad.mit.edu	37	7	97361940	97361940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:97361940G>T	ENST00000319273.5	+	2	313	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	TAC1_ENST00000350485.4_Missense_Mutation_p.A6S|TAC1_ENST00000346867.4_Missense_Mutation_p.A6S	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	6					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	AATCCTCGTGGCCTTGGCAGT	0.443000													106	16					2.68928e-46	4.9295e-46	0.003610	1	0
SSTR4	6754	broad.mit.edu	37	20	23017029	23017029	+	Missense_Mutation	SNP	C	C	G	rs4988475		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23017029C>G	ENST00000255008.3	+	1	973	c.909C>G	c.(907-909)aaC>aaG	p.N303K	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	303					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTATGCCAACAGCTGCGCCA	0.577000													104	55					0	0	0.003610	0	0
C3orf35	339883	broad.mit.edu	37	3	37458927	37458927	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:37458927G>T	ENST00000328376.5	+	5	1149	c.170G>T	c.(169-171)gGc>gTc	p.G57V	C3orf35_ENST00000452017.2_Missense_Mutation_p.G57V|C3orf35_ENST00000425564.2_Missense_Mutation_p.G57V|C3orf35_ENST00000426078.1_Missense_Mutation_p.G57V|C3orf35_ENST00000425932.1_Missense_Mutation_p.G57V|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	57						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GAGCAGATGGGCCTGCAGGGC	0.453000													50	8					3.39706e-21	5.18665e-21	0.003610	1	0
SYNE3	161176	broad.mit.edu	37	14	95942072	95942072	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95942072G>T	ENST00000334258.5	-	1	101	c.87C>A	c.(85-87)gtC>gtA	p.V29V	SYNE3_ENST00000557275.1_Silent_p.V29V|SYNE3_ENST00000553340.1_Silent_p.V29V	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TGTTGTCATTGACCTGCAGCT	0.657000													4	15					0.00024832	0.000262197	0.009096	1	0
SH3TC1	54436	broad.mit.edu	37	4	8229720	8229720	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:8229720C>T	ENST00000539824.1	+	12	2445	c.2071C>T	c.(2071-2073)Cac>Tac	p.H691Y	SH3TC1_ENST00000245105.3_Missense_Mutation_p.H767Y			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	767							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						CCAAACTTCCCACTACCTCAG	0.692000													24	12					0	0	0.002780	0	0
FZD8	8325	broad.mit.edu	37	10	35929082	35929082	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:35929082C>A	ENST00000374694.1	-	1	1280	c.1276G>T	c.(1276-1278)Ggt>Tgt	p.G426C		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	426					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CACTTCATACCGGCCGCCAGG	0.632000													9	43					1.12685e-05	1.23289e-05	0.004482	1	0
AQR	9716	broad.mit.edu	37	15	35224619	35224619	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:35224619C>A	ENST00000156471.5	-	11	1025	c.800G>T	c.(799-801)aGg>aTg	p.R267M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	267						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)		AAACCAGCGCCTTGTGGGTAG	0.428000													18	26					2.94398e-08	3.44546e-08	0.007413	1	0
OR8B12	219858	broad.mit.edu	37	11	124413487	124413487	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124413487G>T	ENST00000306842.2	-	1	88	c.64C>A	c.(64-66)Ctg>Atg	p.L22M		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGGATCCGCAGTCCCGGCTGG	0.542000													43	38					1.15183e-24	1.84763e-24	0.009718	1	0
SLIT3	6586	broad.mit.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168114084C>T	ENST00000519560.1	-	30	3633	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4.				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)			TTGTCTGTCTCACAGAGCTTC	0.597000													13	5					0	0	0.001368	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866252	208866252	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208866252C>G	ENST00000457206.1	-	2	539	c.112G>C	c.(112-114)Ggg>Cgg	p.G38R	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.G38R|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.G38R			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	38					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGGATCCCATAAACCTCT	0.483000													49	69					0	0	0.003610	0	0
CD19	930	broad.mit.edu	37	16	28948976	28948976	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28948976G>T	ENST00000538922.1	+	11	1466	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L	CD19_ENST00000567541.1_Silent_p.L468L|CD19_ENST00000324662.3_Silent_p.L468L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	468					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGAAGAGCTGACCCAGCCGG	0.572000													13	26					0.000219431	0.000232318	0.002450	1	0
CSF2RB	1439	broad.mit.edu	37	22	37334022	37334022	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:37334022G>T	ENST00000262825.5	+	14	2407	c.2190G>T	c.(2188-2190)ggG>ggT	p.G730G	CSF2RB_ENST00000403662.3_Silent_p.G724G|CSF2RB_ENST00000406230.1_Silent_p.G730G|CSF2RB_ENST00000536485.1_Silent_p.G671G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	724					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)	CAAACTCAGGGGCCTCGTCTG	0.632000													83	18					5.01286e-43	9.11218e-43	0.003610	1	0
OR5R1	219479	broad.mit.edu	37	11	56185423	56185423	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56185423C>G	ENST00000312253.1	-	1	285	c.286G>C	c.(286-288)Gct>Cct	p.A96P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTTGCACAAGCATGGAAAGGA	0.478000													9	34					0	0	0.006214	0	0
MRPL3	11222	broad.mit.edu	37	3	131181700	131181700	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:131181700G>A	ENST00000264995.3	-	10	1061	c.914C>T	c.(913-915)cCt>cTt	p.P305L	MRPL3_ENST00000425847.2_Missense_Mutation_p.P332L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	305					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTATATGCAGGCAGTTTAGA	0.348000													28	21					0	0	0.002445	0	0
NTRK2	4915	broad.mit.edu	37	9	87636305	87636305	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:87636305C>A	ENST00000376214.1	+	21	3408	c.2470C>A	c.(2470-2472)Cag>Aag	p.Q824K	NTRK2_ENST00000323115.4_Missense_Mutation_p.Q808K|NTRK2_ENST00000376213.1_Missense_Mutation_p.Q808K|NTRK2_ENST00000277120.3_Missense_Mutation_p.Q824K	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	808					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TACCCTCCTTCAGAACTTGGC	0.592000										TSP Lung(25;0.17)			63	3					1.8515e-17	2.63638e-17	0.003610	1	0
OR4K5	79317	broad.mit.edu	37	14	20388871	20388871	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20388871A>G	ENST00000315915.4	+	1	131	c.106A>G	c.(106-108)Aca>Gca	p.T36A		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	36					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)		TGTGTTGTATACAGTCATTGT	0.403000													61	274					0	0	0.003610	0	0
TRIM69	140691	broad.mit.edu	37	15	45028906	45028906	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:45028906G>C	ENST00000559390.1	+	2	932	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	TRIM69_ENST00000558329.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.E2Q|TRIM69_ENST00000560442.1_5'UTR|TRIM69_ENST00000561043.1_Missense_Mutation_p.E2Q|TRIM69_ENST00000338264.4_Missense_Mutation_p.E2Q			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	2	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGCTTCATGGAGGTGAGTGA	0.483000													15	4					0	0	0.003163	0	0
LTB	4050	broad.mit.edu	37	6	31548635	31548635	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:31548635C>A	ENST00000429299.2	-	4	593	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	196					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GGCCCGTACCCTTGTCTCCTG	0.692000													9	36					3.09899e-07	3.53425e-07	0.004482	1	0
SERPINB4	6318	broad.mit.edu	37	18	61306936	61306936	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61306936A>T	ENST00000341074.5	-	6	659	c.544T>A	c.(544-546)Ttc>Atc	p.F182I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F182I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCCCTTTGAAATAGATTGCG	0.313000													23	3					0	0	0.003954	0	0
STRN3	29966	broad.mit.edu	37	14	31371816	31371816	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31371816A>C	ENST00000355683.5	-	14	2026	c.1811T>G	c.(1810-1812)gTa>gGa	p.V604G	STRN3_ENST00000357479.5_Missense_Mutation_p.V688G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	688					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GGGATGACTTACTACTCTGTT	0.299000													24	33					0	0	0.005443	0	0
OBSCN	84033	broad.mit.edu	37	1	228479742	228479742	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:228479742A>G	ENST00000570156.2	+	44	11844	c.11770A>G	c.(11770-11772)Atc>Gtc	p.I3924V	OBSCN_ENST00000422127.1_Missense_Mutation_p.I3495V|OBSCN_ENST00000284548.11_Missense_Mutation_p.I3495V|OBSCN_ENST00000359599.6_Missense_Mutation_p.I2342V|OBSCN_ENST00000366709.4_Missense_Mutation_p.I614V|OBSCN_ENST00000366707.4_Missense_Mutation_p.I614V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2962	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACAGATACATCCTGAGGCA	0.632000													71	12					0	0	0.003610	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473048	22473048	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:22473048C>A	ENST00000557788.2	-	0	222																											TTGGGGCTCCCACTATGATAG	0.572000													49	88					8.48111e-28	1.40993e-27	0.003610	1	0
LPPR4	9890	broad.mit.edu	37	1	99771894	99771894	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:99771894T>A	ENST00000370185.3	+	7	2117	c.1620T>A	c.(1618-1620)acT>acA	p.T540T	LPPR4_ENST00000457765.1_Silent_p.T482T|LPPR4_ENST00000370184.1_Silent_p.T382T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		540							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAGGAGACTCAGGAAAACA	0.557000													90	62					0	0	0.003610	0	0
SIX3	6496	broad.mit.edu	37	2	45169558	45169558	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:45169558C>G	ENST00000260653.3	+	1	657	c.315C>G	c.(313-315)atC>atG	p.I105M		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	105			I -> V (in HPE2).		visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGGCGACATCGAGCGGCTGG	0.697000													24	8					0	0	0.003330	0	0
ATP4A	495	broad.mit.edu	37	19	36051513	36051513	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36051513G>A	ENST00000262623.3	-	6	567	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	180					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GATGACAGTGGCTTGCTGCGG	0.622000													21	5					0	0	0.002299	0	0
SCN5A	6331	broad.mit.edu	37	3	38592067	38592067	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38592067C>A	ENST00000413689.1	-	28	5989	c.5796G>T	c.(5794-5796)gcG>gcT	p.A1932A	SCN5A_ENST00000449557.2_Silent_p.A1878A|SCN5A_ENST00000450102.2_Silent_p.A1878A|SCN5A_ENST00000455624.2_Silent_p.A1899A|SCN5A_ENST00000443581.1_Silent_p.A1931A|SCN5A_ENST00000333535.4_Silent_p.A1932A|SCN5A_ENST00000451551.2_Silent_p.A1878A|SCN5A_ENST00000425664.1_Silent_p.A1914A|SCN5A_ENST00000414099.2_Silent_p.A1914A|SCN5A_ENST00000423572.2_Silent_p.A1931A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					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)	GGCCGCTGCCCGCCTGCTGAC	0.622000													48	12					1.00953e-15	1.38432e-15	0.003214	1	0
LTBP4	8425	broad.mit.edu	37	19	41135376	41135376	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41135376C>G	ENST00000308370.7	+	34	4793	c.4793C>G	c.(4792-4794)tCc>tGc	p.S1598C	LTBP4_ENST00000204005.9_Missense_Mutation_p.S1561C|LTBP4_ENST00000396819.3_Missense_Mutation_p.S1531C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1599	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGATGGCTCCTTCCGCTGC	0.701000													21	23					0	0	0.010504	0	0
POLA2	23649	broad.mit.edu	37	11	65055292	65055292	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65055292G>T	ENST00000265465.3	+	11	1643	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	POLA2_ENST00000541089.1_Missense_Mutation_p.R163L	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	371					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AACCATGACCGGCCAGATGTC	0.493000													29	18					1.99505e-19	2.94536e-19	0.002445	1	0
GABRA4	2557	broad.mit.edu	37	4	46930643	46930643	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46930643T>C	ENST00000264318.3	-	9	2246	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	422					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGTGCCTTTAGAAGATTCT	0.448000													25	76					0	0	0.004656	0	0
PEG3	5178	broad.mit.edu	37	19	57325401	57325401	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57325401C>G	ENST00000326441.9	-	10	4772	c.4409G>C	c.(4408-4410)gGa>gCa	p.G1470A	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1346A|PEG3_ENST00000593695.1_Missense_Mutation_p.G1344A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1470A|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1470	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCAGCTTTTCCCTCTGGCTC	0.527000													54	134					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190129960	190129960	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:190129960A>G	ENST00000367462.3	-	7	1253	c.1022T>C	c.(1021-1023)aTa>aCa	p.I341T	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.I239T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		341						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)					CAAATGCATTATAGTAGATGT	0.323000													14	93					0	0	0.006122	0	0
CYLC2	1539	broad.mit.edu	37	9	105767812	105767812	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:105767812C>G	ENST00000374798.3	+	5	969	c.899C>G	c.(898-900)gCc>gGc	p.A300G	CYLC2_ENST00000487798.1_Missense_Mutation_p.A300G	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	300	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				acgaaagatgccaagaaagtt	0.383000													12	3					0	0	0.000978	0	0
BRWD3	254065	broad.mit.edu	37	X	79947450	79947450	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:79947450C>G	ENST00000373275.4	-	30	3569	c.3353G>C	c.(3352-3354)gGt>gCt	p.G1118A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1118										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						GACAGGAACACCAGCACCAAC	0.383000													6	3					0	0	0.001168	0	0
NLRP5	126206	broad.mit.edu	37	19	56544100	56544100	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56544100C>A	ENST00000390649.3	+	8	2400	c.2400C>A	c.(2398-2400)acC>acA	p.T800T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	800						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)		CCATGAAGACCCTGTGTGCCA	0.607000													48	58					3.16986e-14	4.18601e-14	0.003610	1	0
GAD2	2572	broad.mit.edu	37	10	26507994	26507994	+	Silent	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:26507994A>C	ENST00000376261.3	+	4	812	c.309A>C	c.(307-309)ggA>ggC	p.G103G	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Silent_p.G103G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	103					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CGTGTGATGGAGAAAGGCCCA	0.363000													47	30					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38891824	38891824	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38891824T>A	ENST00000359357.3	+	71	10451	c.10197T>A	c.(10195-10197)aaT>aaA	p.N3399K	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.N3363K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3616K					dynein, axonemal, heavy chain 8									p.N3399K(2)		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						GTCCTTTCAATCAGATATTTA	0.418000													23	94					0	0	0.003330	0	0
EPHA5	2044	broad.mit.edu	37	4	66467728	66467728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:66467728C>A	ENST00000273854.3	-	3	1141	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E181*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E181*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E181*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	181					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTAAAGCTTTCATCGGCAGCA	0.363000										TSP Lung(17;0.13)			17	46					5.01169e-05	5.41693e-05	0.004990	1	0
OPRK1	4986	broad.mit.edu	37	8	54147573	54147573	+	Missense_Mutation	SNP	T	T	A	rs148980561	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:54147573T>A	ENST00000265572.3	-	3	653	c.356A>T	c.(355-357)tAc>tTc	p.Y119F	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.Y30F|OPRK1_ENST00000520287.1_Missense_Mutation_p.Y119F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	119					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATTCATCAAGTAGACCGTACT	0.408000													45	36					0	0	0.003214	0	0
CYP4F2	8529	broad.mit.edu	37	19	15996831	15996831	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15996831C>G	ENST00000221700.5	-	9	1113	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	CYP4F2_ENST00000011989.7_Silent_p.G168G|CYP4F2_ENST00000592328.1_Missense_Mutation_p.V340L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	340					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTACAGGACCCAGGAGAGA	0.597000													13	66					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41005676	41005676	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41005676G>T	ENST00000399564.4	-	35	4271	c.3821C>A	c.(3820-3822)tCc>tAc	p.S1274Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.S829Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTCTCCGAGGAGGAGGTAAG	0.512000													9	14					0.000673444	0.000704267	0.008291	1	0
CHD5	26038	broad.mit.edu	37	1	6181567	6181567	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:6181567G>T	ENST00000262450.3	-	32	4865	c.4766C>A	c.(4765-4767)cCc>cAc	p.P1589H	CHD5_ENST00000378021.1_Missense_Mutation_p.P446H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1589					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)		GACTTCCAGGGGCTGCCTTGG	0.592000													7	27					8.12818e-05	8.68982e-05	0.001984	1	0
GLB1L	79411	broad.mit.edu	37	2	220104998	220104998	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220104998G>T	ENST00000295759.7	-	6	774	c.461C>A	c.(460-462)gCc>gAc	p.A154D	GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.A154D|GLB1L_ENST00000356283.3_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	154					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCACTGCGGCAAGGAAGTC	0.463000													25	35					4.4004e-07	4.97514e-07	0.003330	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508261	106508261	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:106508261G>C	ENST00000359195.3	+	2	565	c.255G>C	c.(253-255)gcG>gcC	p.A85A	PIK3CG_ENST00000496166.1_Silent_p.A85A|PIK3CG_ENST00000440650.2_Silent_p.A85A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	85					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						GCGTGGCGGCGGACTTCTACC	0.637000													29	10					0	0	0.009535	0	0
PKP2	5318	broad.mit.edu	37	12	33003763	33003763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:33003763C>T	ENST00000340811.4	-	5	1423	c.1315G>A	c.(1315-1317)Gta>Ata	p.V439I	PKP2_ENST00000070846.6_Missense_Mutation_p.V439I	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	439					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCCGAGGTACCCCATTTAGT	0.433000													63	39					0	0	0.003610	0	0
CD1C	911	broad.mit.edu	37	1	158262139	158262139	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158262139G>T	ENST00000368170.3	+	3	873	c.594G>T	c.(592-594)atG>atT	p.M198I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	198					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M198I(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGGGAAGATGTATGTACACA	0.453000													85	154					6.31949e-53	1.18152e-52	0.003610	1	0
JAK1	3716	broad.mit.edu	37	1	65325846	65325846	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:65325846C>A	ENST00000342505.4	-	9	1524	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	426					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGGGCCACGTCGGTGCAGAGG	0.542000			Mis		ALL								13	52					7.93312e-07	8.91285e-07	0.002450	1	0
DNAH11	8701	broad.mit.edu	37	7	21827194	21827194	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21827194T>A	ENST00000328843.6	+	61	9969	c.9938T>A	c.(9937-9939)tTc>tAc	p.F3313Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.F3306Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3313	Stalk (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						ATCATTAAATTCTATGAGGTA	0.388000									Kartagener syndrome				15	11					0	0	0.003163	0	0
SSX1	6756	broad.mit.edu	37	X	48121245	48121245	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48121245C>A	ENST00000376919.3	+	5	461	c.325C>A	c.(325-327)Ccg>Acg	p.P109T		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CAGAATCATCCCGAAGGTGAG	0.408000			T	SS18	synovial sarcoma								28	3					2.85442e-18	4.12421e-18	0.002096	1	0
GOLIM4	27333	broad.mit.edu	37	3	167747580	167747580	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:167747580T>A	ENST00000470487.1	-	10	2110	c.1421A>T	c.(1420-1422)cAg>cTg	p.Q474L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q446L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	474	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCTGCTCCTGGTGCTGCGG	0.557000													28	37					0	0	0.009535	0	0
CCL2	6347	broad.mit.edu	37	17	32583819	32583819	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:32583819C>A	ENST00000225831.4	+	3	338	c.273C>A	c.(271-273)gaC>gaA	p.D91E	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	91					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	ACCACCTGGACAAGCAAACCC	0.507000													14	46					2.31682e-05	2.51801e-05	0.003163	1	0
TNN	63923	broad.mit.edu	37	1	175046647	175046647	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175046647C>T	ENST00000239462.4	+	2	206	c.93C>T	c.(91-93)ccC>ccT	p.P31P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P31P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGAGCCTCCCGGCTGCAGCA	0.602000													14	31					0	0	0.004990	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382354	48382354	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:48382354C>T	ENST00000222002.3	-	4	645	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GGGCATCCAGCCATGAATGTG	0.438000													50	72					0	0	0.003610	0	0
TST	7263	broad.mit.edu	37	22	37407135	37407135	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:37407135C>A	ENST00000403892.3	-	2	1561	c.827G>T	c.(826-828)tGg>tTg	p.W276L	TST_ENST00000249042.3_Missense_Mutation_p.W276L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	276	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CCACTCGGACCAGGAGCCATC	0.642000													22	37					0.000295444	0.000311619	0.002299	1	0
TPTE	7179	broad.mit.edu	37	21	11021212	11021212	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:11021212C>G	ENST00000415664.2	-	3	239		c.e3-1		BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						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)		CAGTAGACACCTATAAAAAGC	0.299000													7	54					0	0	0.004482	0	0
INSM1	3642	broad.mit.edu	37	20	20350430	20350430	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:20350430C>G	ENST00000310227.1	+	1	1666	c.1519C>G	c.(1519-1521)Cgc>Ggc	p.R507G		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	507					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGTGCCCGTGCGCCCGGCCTG	0.667000													4	26					0	0	0.000602	0	0
FAM111A	63901	broad.mit.edu	37	11	58919341	58919341	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58919341C>T	ENST00000528737.1	+	5	3018	c.200C>T	c.(199-201)cCa>cTa	p.P67L	FAM111A_ENST00000361723.3_Missense_Mutation_p.P67L|FAM111A_ENST00000420244.1_Missense_Mutation_p.P67L|FAM111A_ENST00000531147.1_Missense_Mutation_p.P67L|FAM111A_ENST00000533703.1_Missense_Mutation_p.P67L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	67					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAGAAAAATCCAGAAGACCAG	0.408000													35	94					0	0	0.004878	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094885	139094885	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:139094885T>A	ENST00000332797.6	+	1	229	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	25										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCATGGAGGCTGTACCTCTTA	0.622000													109	36					0	0	0.003610	0	0
ELAVL4	1996	broad.mit.edu	37	1	50572025	50572025	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:50572025G>T	ENST00000357083.4	+	1	62	c.20G>T	c.(19-21)aGg>aTg	p.R7M	ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron	NM_001144775.1	NP_001138247.1	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	0					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTTCTTTTAAGGGAAATTGTC	0.478000													17	17					6.94344e-10	8.41694e-10	0.006122	1	0
NUP133	55746	broad.mit.edu	37	1	229622276	229622276	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:229622276C>A	ENST00000261396.3	-	11	1434		c.e11-1		NUP133_ENST00000537506.1_Splice_Site|NUP133_ENST00000366679.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACTATCTCCTAAAAGAAAG	0.353000													18	5					5.01169e-05	5.41693e-05	0.004990	1	0
LPHN3	23284	broad.mit.edu	37	4	62812687	62812687	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62812687G>C	ENST00000512091.1	+	15	3018	c.2271G>C	c.(2269-2271)acG>acC	p.T757T	LPHN3_ENST00000506700.1_Silent_p.T757T|LPHN3_ENST00000508946.1_Silent_p.T757T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.T825T|LPHN3_ENST00000511324.1_Silent_p.T825T|LPHN3_ENST00000504896.1_Silent_p.T757T|LPHN3_ENST00000509896.1_Silent_p.T825T|LPHN3_ENST00000506746.1_Silent_p.T825T|LPHN3_ENST00000514157.1_Silent_p.T757T|LPHN3_ENST00000507164.1_Silent_p.T825T|LPHN3_ENST00000545650.1_Silent_p.T757T|LPHN3_ENST00000514996.1_Silent_p.T757T|LPHN3_ENST00000507625.1_Silent_p.T825T|LPHN3_ENST00000514591.1_Silent_p.T757T|LPHN3_ENST00000508693.1_Silent_p.T825T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	744					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T757T(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTTATCCACGGAGAATGCCA	0.393000													52	103					0	0	0.003610	0	0
PDZRN3	23024	broad.mit.edu	37	3	73657747	73657747	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:73657747A>G	ENST00000263666.4	-	2	925		c.e2+1		PDZRN3_ENST00000308537.4_Splice_Site	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3								ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TAATTAACATACCACACTCGG	0.478000													5	3					0	0	0.001168	0	0
CHD6	84181	broad.mit.edu	37	20	40049492	40049492	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:40049492C>A	ENST00000373233.3	-	31	5960	c.5783G>T	c.(5782-5784)aGg>aTg	p.R1928M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1928					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)				GGGGAAAGCCCTCTGTAGCCC	0.507000													114	9					4.07178e-41	7.34714e-41	0.003610	1	0
OR2J2	26707	broad.mit.edu	37	6	29141996	29141996	+	Missense_Mutation	SNP	C	C	A	rs149241559	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:29141996C>A	ENST00000377167.2	+	1	686	c.584C>A	c.(583-585)gCa>gAa	p.A195E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GACACCCATGCAAATGAGCTG	0.478000													129	72					4.94232e-47	9.09331e-47	0.003610	1	0
C15orf41	84529	broad.mit.edu	37	15	37001480	37001480	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:37001480G>T	ENST00000566621.1	+	9	851	c.601G>T	c.(601-603)Gta>Tta	p.V201L	C15orf41_ENST00000562877.1_Missense_Mutation_p.V103L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562489.1_Missense_Mutation_p.V25L|C15orf41_ENST00000569302.1_Missense_Mutation_p.V201L|C15orf41_ENST00000437989.2_Missense_Mutation_p.V201L|C15orf41_ENST00000567389.1_Missense_Mutation_p.V103L|C15orf41_ENST00000338183.4_Missense_Mutation_p.V103L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	201							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CATTTTACAAGTACCAGTTGG	0.279000													8	2					4.68919e-08	5.46192e-08	0.008291	1	0
SORCS1	114815	broad.mit.edu	37	10	108521397	108521397	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:108521397C>A	ENST00000263054.6	-	5	915	c.908G>T	c.(907-909)gGg>gTg	p.G303V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G303V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	303						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCATCTTCTCCCAAATTCAGC	0.373000													18	2					1.50039e-11	1.8887e-11	0.001882	1	0
ASPM	259266	broad.mit.edu	37	1	197073924	197073924	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:197073924T>C	ENST00000367409.4	-	18	4713	c.4457A>G	c.(4456-4458)tAt>tGt	p.Y1486C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1486					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCTAATATAAATATATTT	0.294000													30	15					0	0	0.008361	0	0
VWA8	23078	broad.mit.edu	37	13	42393467	42393467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:42393467C>A	ENST00000379310.3	-	15	1824	c.1756G>T	c.(1756-1758)Gtt>Ttt	p.V586F	VWA8_ENST00000281496.6_Missense_Mutation_p.V586F	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTTCCAATAACAGGGGGTTCT	0.373000													15	8					2.23348e-06	2.47815e-06	0.004007	1	0
ZNF275	10838	broad.mit.edu	37	X	152612393	152612393	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:152612393G>C	ENST00000421401.3	+	4	427	c.250G>C	c.(250-252)Gac>Cac	p.D84H	ZNF275_ENST00000370251.2_Missense_Mutation_p.D84H|ZNF275_ENST00000440091.1_Missense_Mutation_p.D114H|ZNF275_ENST00000370249.2_Missense_Mutation_p.D31H	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	84						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCACGGGGACTCTGACGG	0.552000													16	2					0	0	0.004007	0	0
TRIM48	79097	broad.mit.edu	37	11	55032418	55032418	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55032418C>G	ENST00000417545.2	+	2	173	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	13						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGAGGGAACTCACCTGCCCCA	0.488000													79	224					0	0	0.003610	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015594	53015594	+	RNA	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:53015594G>C	ENST00000599143.1	-	0	1																											AGGGAAACTTGACTAATGTAA	0.393000													10	49					0	0	0.008291	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876982	117876982	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:117876982T>A	ENST00000357099.4	+	6	945		c.e6+2		ANKRD7_ENST00000477532.1_Splice_Site|ANKRD7_ENST00000417525.1_Splice_Site|ANKRD7_ENST00000265224.4_Splice_Site|ANKRD7_ENST00000433239.1_Splice_Site			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTTTACTGCGTAAGTGATACT	0.398000													94	17					0	0	0.003610	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475166	140475166	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140475166C>A	ENST00000194155.4	+	1	940	c.792C>A	c.(790-792)gcC>gcA	p.A264A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		264	Cadherin 3.				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)			CCCAGGTTGCCATCGTCTCTG	0.468000													35	7					1.84765e-07	2.12566e-07	0.003755	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839000	128839000	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:128839000C>A	ENST00000310343.9	-	22	6065	c.6066G>T	c.(6064-6066)caG>caT	p.Q2022H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2022	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTTATCATACTGGGACACAA	0.577000													31	57					1.08312e-15	1.48316e-15	0.009535	1	0
OR1A2	26189	broad.mit.edu	37	17	3101025	3101025	+	Missense_Mutation	SNP	C	C	G	rs141816732		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3101025C>G	ENST00000381951.1	+	1	213	c.213C>G	c.(211-213)atC>atG	p.I71M		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGTTGACATCATCTTCTCAT	0.483000													35	205					0	0	0.004878	0	0
NFX1	4799	broad.mit.edu	37	9	33318727	33318727	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:33318727A>G	ENST00000379540.3	+	8	1650		c.e8-1		NFX1_ENST00000379521.4_Splice_Site|NFX1_ENST00000318524.6_Splice_Site	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1						inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTTCTCTTCAAGTATGCTATT	0.388000													55	60					0	0	0.003610	0	0
ITGA8	8516	broad.mit.edu	37	10	15658514	15658514	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:15658514T>A	ENST00000378076.3	-	14	1797	c.1445_splice	c.e14+1	p.R482_splice		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	482					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCACATACCTGTAAACAGCG	0.343000													33	1					0	0	0.003271	0	0
PMEL	6490	broad.mit.edu	37	12	56348026	56348026	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:56348026C>T	ENST00000548747.1	-	11	2620	c.1958G>A	c.(1957-1959)aGc>aAc	p.S653N	PMEL_ENST00000550447.1_Missense_Mutation_p.S282N|PMEL_ENST00000539511.1_Missense_Mutation_p.S567N|PMEL_ENST00000536427.1_Missense_Mutation_p.S618N|PMEL_ENST00000552882.1_Missense_Mutation_p.S653N|PMEL_ENST00000550464.1_Missense_Mutation_p.S567N|PMEL_ENST00000360714.4_Missense_Mutation_p.S660N|PMEL_ENST00000548493.1_Missense_Mutation_p.S653N|PMEL_ENST00000449260.2_Missense_Mutation_p.S660N			P40967	PMEL_HUMAN	premelanosome protein	653					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGAGGGGGCTGTTCTCACC	0.527000													38	6					0	0	0.004878	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528879	77528879	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:77528879C>A	ENST00000373304.3	-	3	657	c.365G>T	c.(364-366)tGc>tTc	p.C122F		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	122					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AATTGCAATGCACCGGAAAAA	0.408000													9	3					7.48243e-07	8.42095e-07	0.006214	1	0
C19orf47	126526	broad.mit.edu	37	19	40832386	40832386	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:40832386C>G	ENST00000582783.1	-	7	570	c.558G>C	c.(556-558)ctG>ctC	p.L186L	C19orf47_ENST00000392035.2_Silent_p.L119L	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	186										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCCGGCGGGCCAGGGCTGCTG	0.597000													7	15					0	0	0.001984	0	0
SCAND3	114821	broad.mit.edu	37	6	28541454	28541454	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28541454C>T	ENST00000452236.2	-	4	2829	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	738					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						tatgaaggatcatatttccga	0.333000													11	38					0	0	0.000978	0	0
POSTN	10631	broad.mit.edu	37	13	38161012	38161012	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:38161012A>T	ENST00000379747.4	-	6	777	c.660T>A	c.(658-660)aaT>aaA	p.N220K	POSTN_ENST00000379749.4_Missense_Mutation_p.N220K|POSTN_ENST00000541179.1_Missense_Mutation_p.N220K|POSTN_ENST00000379742.4_Missense_Mutation_p.N220K|POSTN_ENST00000379743.4_Missense_Mutation_p.N220K|POSTN_ENST00000541481.1_Missense_Mutation_p.N220K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	220	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGACAACACCATTTGTTGCAA	0.383000													16	7					0	0	0.004007	0	0
RAE1	8480	broad.mit.edu	37	20	55929849	55929849	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:55929849A>T	ENST00000395841.2	+	3	592	c.172A>T	c.(172-174)Att>Ttt	p.I58F	RAE1_ENST00000527947.1_Missense_Mutation_p.I58F|RAE1_ENST00000371242.2_Missense_Mutation_p.I58F|RAE1_ENST00000395840.2_Missense_Mutation_p.I58F	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	58					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GAACTTTCTTATTGCAGGATC	0.418000													19	63					0	0	0.002299	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199133	44199133	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:44199133G>C	ENST00000393841.1	+	10	1290	c.799G>C	c.(799-801)Gga>Cga	p.G267R	SLC29A1_ENST00000371731.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000393844.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.G346R|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.G267R|SLC29A1_ENST00000371724.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.G267R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.G267R	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	267					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGAGGAATCTGGAGTTTCAGT	0.478000													5	4					0	0	0.001168	0	0
MYEOV	26579	broad.mit.edu	37	11	69063426	69063426	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:69063426G>T	ENST00000535407.1	+	2	978	c.335G>T	c.(334-336)aGa>aTa	p.R112I	MYEOV_ENST00000441339.2_Missense_Mutation_p.R170I|MYEOV_ENST00000308946.3_Missense_Mutation_p.R170I			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	170										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)		GAAGCCTTTAGAGTGGGCGTT	0.582000													69	184					5.22007e-41	9.41049e-41	0.003610	1	0
TRERF1	55809	broad.mit.edu	37	6	42225904	42225904	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:42225904C>A	ENST00000541110.1	-	10	2933	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	TRERF1_ENST00000354325.2_Missense_Mutation_p.G686W|TRERF1_ENST00000372917.4_Missense_Mutation_p.G686W|TRERF1_ENST00000340840.2_Missense_Mutation_p.G686W|TRERF1_ENST00000372922.4_Missense_Mutation_p.G769W			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	769	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCAGGCCCTGGGGTGACC	0.423000													13	33					2.23348e-06	2.47815e-06	0.004007	1	0
MYH2	4620	broad.mit.edu	37	17	10432523	10432523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10432523G>A	ENST00000245503.5	-	26	3694	c.3310C>T	c.(3310-3312)Cag>Tag	p.Q1104*	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q1104*|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1104					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						CCAAGTGCCTGTTCATCTTCA	0.373000													12	46					0	0	0.001368	0	0
ASH1L	55870	broad.mit.edu	37	1	155448036	155448036	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:155448036T>G	ENST00000368346.3	-	3	5264	c.4625A>C	c.(4624-4626)cAt>cCt	p.H1542P	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1542P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1542					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGAGAGATGAGGGCAGGA	0.458000													34	59					0	0	0.005524	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203652	19203652	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:19203652C>A	ENST00000263200.10	-	19	3106	c.3034G>T	c.(3034-3036)Gtt>Ttt	p.V1012F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1012F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1012F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1012	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTATCCAGAACTATCTTCTCC	0.473000			T	?	ALCL								52	3					1.17673e-23	1.86023e-23	0.003610	1	0
CACNA1S	779	broad.mit.edu	37	1	201013584	201013584	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:201013584C>A	ENST00000362061.3	-	39	4895	c.4668_splice	c.e39-1	p.A1557_splice	CACNA1S_ENST00000367338.3_Splice_Site_p.A1538_splice	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1557					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)	CGCAGCCCTGCCTGGGGATGA	0.577000													29	37					3.1745e-13	4.1147e-13	0.008361	1	0
C2orf43	60526	broad.mit.edu	37	2	20990127	20990127	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20990127T>G	ENST00000237822.3	-	3	265	c.186A>C	c.(184-186)ccA>ccC	p.P62P	C2orf43_ENST00000440866.2_Silent_p.P62P|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000381090.3_Silent_p.P62P|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000419825.2_Silent_p.P62P	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	62										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTTGCAAATGGCACATAAA	0.408000													16	79					0	0	0.004990	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829583	146829583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:146829583C>A	ENST00000361727.3	+	8	1846	c.1330C>A	c.(1330-1332)Caa>Aaa	p.Q444K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	444	Laminin G-like 2.				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)			CAAGATGAGCCAAATCGATAT	0.408000										HNSCC(39;0.1)			29	7					6.38683e-12	8.09163e-12	0.008361	1	0
OR5M9	390162	broad.mit.edu	37	11	56230457	56230457	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56230457G>T	ENST00000279791.1	-	1	420	c.421C>A	c.(421-423)Cgg>Agg	p.R141R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGATGAGCCGAACACACACA	0.458000													35	26					1.836e-18	2.66254e-18	0.003755	1	0
NEUROD1	4760	broad.mit.edu	37	2	182543242	182543242	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:182543242C>G	ENST00000295108.3	-	2	803	c.346G>C	c.(346-348)Gga>Cga	p.G116R	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	116	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGTTCAGTCCGTGCATGCGG	0.552000													17	32					0	0	0.007413	0	0
DIS3L2	129563	broad.mit.edu	37	2	233201200	233201200	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:233201200G>C	ENST00000325385.7	+	21	2794	c.2518G>C	c.(2518-2520)Gtg>Ctg	p.V840L	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.V840L	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	840							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTTCAGCCTGGTGGAGGTGGT	0.652000													16	14					0	0	0.003163	0	0
OR52M1	119772	broad.mit.edu	37	11	4566571	4566571	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4566571G>T	ENST00000360213.1	+	1	151	c.151G>T	c.(151-153)Gta>Tta	p.V51L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGGCTGTGGTAAAGATAGA	0.537000													55	15					2.01807e-28	3.37203e-28	0.003610	1	0
OVCH2	341277	broad.mit.edu	37	11	7712603	7712603	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:7712603G>T	ENST00000454689.1	-	0	1535				OVCH2_ENST00000534193.1_RNA|OVCH2_ENST00000533663.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCAGCACAGGGGTGGGGACAT	0.537000													20	8					2.21704e-12	2.8344e-12	0.002780	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574112	140574112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140574112G>T	ENST00000239446.4	+	1	2171	c.1987G>T	c.(1987-1989)Gtg>Ttg	p.V663L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		663	Cadherin 6.				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)			CTTGCTCCTGGTGGACGGCTT	0.697000													89	19					5.56898e-48	1.02655e-47	0.003610	1	0
FCRL1	115350	broad.mit.edu	37	1	157772447	157772447	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:157772447A>G	ENST00000358292.3	-	4	378	c.327T>C	c.(325-327)ccT>ccC	p.P109P	FCRL1_ENST00000491942.1_Silent_p.P109P|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.P109P	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	109	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCAGCGACAGGGACCCCTG	0.537000													5	9					0	0	0.001168	0	0
FLNC	2318	broad.mit.edu	37	7	128478681	128478681	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128478681T>C	ENST00000325888.8	+	8	1496	c.1235T>C	c.(1234-1236)gTg>gCg	p.V412A	FLNC_ENST00000346177.6_Missense_Mutation_p.V412A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	412					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						GATGTTGCTGTGGTGATCGTG	0.652000													57	118					0	0	0.003610	0	0
CDX4	1046	broad.mit.edu	37	X	72667208	72667208	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:72667208C>G	ENST00000373514.2	+	1	119	c.119C>G	c.(118-120)cCa>cGa	p.P40R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGTCCGATGCCAGCCTCCAAT	0.632000													12	2					0	0	0.000978	0	0
REG3A	5068	broad.mit.edu	37	2	79384420	79384420	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79384420C>A	ENST00000393878.1	-	5	715		c.e5-1		REG3A_ENST00000409839.3_Splice_Site|REG3A_ENST00000305165.2_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTCAGAAATGCTGGAGAGACA	0.468000													20	18					1.01871e-10	1.26056e-10	0.008871	1	0
PRR23B	389151	broad.mit.edu	37	3	138738889	138738889	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:138738889A>G	ENST00000329447.5	-	1	879	c.615T>C	c.(613-615)agT>agC	p.S205S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	205	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCTCTCTGAACTGGGGTTGG	0.627000													20	47					0	0	0.010504	0	0
CSF1R	1436	broad.mit.edu	37	5	149435882	149435882	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:149435882G>C	ENST00000286301.3	-	18	2633	c.2342C>G	c.(2341-2343)gCg>gGg	p.A781G		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	781	Protein kinase.				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)	CACGTTACGCGCTGCCACGTC	0.572000													18	30					0	0	0.006122	0	0
POLR2A	5430	broad.mit.edu	37	17	7411605	7411605	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7411605G>T	ENST00000322644.6	+	20	3675	c.3276G>T	c.(3274-3276)gcG>gcT	p.A1092A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1092					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTCTGGCTGCGCAGTCCCTTG	0.542000													13	10					0.00010058	0.000107122	0.001368	1	0
WDR78	79819	broad.mit.edu	37	1	67288201	67288201	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:67288201C>G	ENST00000371026.3	-	16	2395		c.e16-1		WDR78_ENST00000431318.1_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78											NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGGTCCAAACTGTAATGAAA	0.294000													6	21					0	0	0.001168	0	0
CNGB3	54714	broad.mit.edu	37	8	87738759	87738759	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87738759C>A	ENST00000320005.5	-	3	385	c.338_splice	c.e3+1	p.S113_splice	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	113					signal transduction|visual perception	integral to membrane	cGMP binding	p.S113N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAATGCTCACCTGTTTGGACC	0.458000													71	103					4.83677e-39	8.65597e-39	0.003610	1	0
FAM65B	9750	broad.mit.edu	37	6	24865573	24865573	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:24865573C>G	ENST00000259698.4	-	7	695	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	FAM65B_ENST00000510784.2_Missense_Mutation_p.E208Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E174Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E203Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E174Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	174					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTCAGACTCTCCCGGGCAGCT	0.512000													40	75					0	0	0.007835	0	0
GCSAM	257144	broad.mit.edu	37	3	111845856	111845856	+	Missense_Mutation	SNP	C	C	A	rs150928109		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:111845856C>A	ENST00000308910.4	-	4	352	c.168G>T	c.(166-168)aaG>aaT	p.K56N	GCSAM_ENST00000484193.1_Missense_Mutation_p.K58N|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		AATCTTGCCTCTTTTCAAAAA	0.303000													12	23					1.49906e-05	1.63647e-05	0.002450	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37170591	37170591	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:37170591T>A	ENST00000421307.1	-	4	562	c.140A>T	c.(139-141)gAt>gTt	p.D47V	LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D47V|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D47V|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D47V|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D47V|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D47V	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	47	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CATGCGTATATCTCTTGCTTC	0.413000													100	20					0	0	0.003610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377399	138377399	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:138377399A>T	ENST00000356818.2	+	4	1592	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	PPP1R26_ENST00000605660.1_Missense_Mutation_p.K348M|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K348M|PPP1R26_ENST00000604351.1_Missense_Mutation_p.K348M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K348M	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	348						nucleolus	protein binding										AGGAGGGGAAAGCGAGTCATG	0.617000													58	15					0	0	0.003610	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612613	79612613	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:79612613G>A	ENST00000328585.4	+	0	722				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCGGGCTGAGGTGCTGCGGA	0.657000													15	4					0	0	0.002450	0	0
KCNH5	27133	broad.mit.edu	37	14	63416986	63416986	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:63416986C>T	ENST00000322893.7	-	7	1502	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	KCNH5_ENST00000420622.2_Missense_Mutation_p.G412R|KCNH5_ENST00000394968.1_Missense_Mutation_p.G354R|KCNH5_ENST00000394964.2_Missense_Mutation_p.G354R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	412					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCTGGGTCCTCCTTCCCAT	0.468000													47	35					0	0	0.003610	0	0
CEP350	9857	broad.mit.edu	37	1	180034295	180034295	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:180034295C>T	ENST00000367607.3	+	27	5873	c.5455C>T	c.(5455-5457)Cct>Tct	p.P1819S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1819						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGCAACCAGTCCTGGTCCAAC	0.428000													5	17					0	0	0.000602	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330362	88330362	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:88330362G>T	ENST00000325089.6	+	2	2938	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G666W	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	907						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCGGGGGCAGGGGACAGCAG	0.557000													25	114					4.47668e-21	6.81384e-21	0.003954	1	0
OBSL1	23363	broad.mit.edu	37	2	220435139	220435139	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220435139C>A	ENST00000404537.1	-	1	872	c.816G>T	c.(814-816)aaG>aaT	p.K272N	OBSL1_ENST00000373873.4_Missense_Mutation_p.K272N|OBSL1_ENST00000373876.1_Missense_Mutation_p.K272N|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000265318.4_Missense_Mutation_p.K272N|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.K272N	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	272	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGGCTCGGGCTTGCCCATCA	0.701000													16	36					1.37285e-15	1.87859e-15	0.004007	1	0
LRRC18	474354	broad.mit.edu	37	10	50121911	50121911	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50121911C>T	ENST00000374160.3	-	1	366	c.290G>A	c.(289-291)aGc>aAc	p.S97N	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.S97N|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	97						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTAGAGCAGGCTGGTCATCTG	0.567000													20	20					0	0	0.008871	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715643	15715643	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:15715643C>A	ENST00000396368.3	-	12	2792	c.2586G>T	c.(2584-2586)aaG>aaT	p.K862N	KIAA0430_ENST00000602337.1_Missense_Mutation_p.K859N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K862N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K859N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K697N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K531N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	861	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGACCAGGATCTTTTTGCTGC	0.428000													14	27					2.31682e-05	2.51801e-05	0.003163	1	0
PML	5371	broad.mit.edu	37	15	74315359	74315359	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:74315359G>T	ENST00000565898.1	+	3	877	c.793G>T	c.(793-795)Gtc>Ttc	p.V265F	PML_ENST00000268058.3_Missense_Mutation_p.V265F|PML_ENST00000359928.4_Missense_Mutation_p.V265F|PML_ENST00000563500.1_Missense_Mutation_p.V265F|PML_ENST00000354026.6_Missense_Mutation_p.V265F|PML_ENST00000268059.6_Missense_Mutation_p.V265F|PML_ENST00000569965.1_Missense_Mutation_p.V265F|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.V265F|PML_ENST00000435786.2_Missense_Mutation_p.V265F|PML_ENST00000395132.2_Missense_Mutation_p.V265F|PML_ENST00000395135.3_Missense_Mutation_p.V265F|PML_ENST00000569477.1_Missense_Mutation_p.V265F|PML_ENST00000436891.3_Missense_Mutation_p.V265F|PML_ENST00000564428.1_Missense_Mutation_p.V265F			P29590	PML_HUMAN	promyelocytic leukemia	265					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCACGCGGCCGTCGGCCAGCT	0.701000			T	"""RARA, PAX5"""	"""APL, ALL"""								18	5					1.67942e-08	1.97608e-08	0.006122	1	0
ZNF182	7569	broad.mit.edu	37	X	47836531	47836531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:47836531C>A	ENST00000396965.1	-	7	1305	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	ZNF182_ENST00000376943.3_Nonsense_Mutation_p.E300*|ZNF182_ENST00000305127.6_Nonsense_Mutation_p.E319*	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCATTACATTCATAAGGTTTT	0.418000													17	5					1.37522e-17	1.96104e-17	0.007413	1	0
POTEE	445582	broad.mit.edu	37	2	131976074	131976074	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:131976074C>G	ENST00000356920.5	+	1	193	c.99C>G	c.(97-99)ccC>ccG	p.P33P	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.P33P	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	33							ATP binding										GTTGCTTCCCCTGCTACAGGG	0.567000													194	128					0	0	0.003610	0	0
ZNF578	147660	broad.mit.edu	37	19	53014061	53014061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:53014061G>T	ENST00000421239.2	+	6	671	c.427G>T	c.(427-429)Gat>Tat	p.D143Y		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGACCGACATGATCAAAGGCA	0.393000													103	69					6.21867e-57	1.16823e-56	0.003610	1	0
MYBPC1	4604	broad.mit.edu	37	12	102023252	102023252	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:102023252C>A	ENST00000549145.1	+	5	283	c.183C>A	c.(181-183)gcC>gcA	p.A61A	MYBPC1_ENST00000547509.1_Silent_p.A34A|MYBPC1_ENST00000360610.2_Silent_p.A48A|MYBPC1_ENST00000547405.1_Silent_p.A22A|MYBPC1_ENST00000541119.1_Silent_p.A36A|MYBPC1_ENST00000545503.2_Silent_p.A48A|MYBPC1_ENST00000452455.2_Silent_p.A48A|MYBPC1_ENST00000392934.3_Silent_p.A35A|MYBPC1_ENST00000536007.1_Silent_p.A48A|MYBPC1_ENST00000361466.2_Silent_p.A73A|MYBPC1_ENST00000441232.1_Silent_p.A48A|MYBPC1_ENST00000553190.1_Silent_p.A48A|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Silent_p.A73A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.A48A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	48					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						AGGAACAAGCCAAGCAGAATG	0.478000													23	5					7.92952e-12	1.00332e-11	0.003954	1	0
NPHS2	7827	broad.mit.edu	37	1	179520525	179520525	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:179520525A>G	ENST00000367615.4	-	8	1003	c.935T>C	c.(934-936)cTg>cCg	p.L312P	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.L244P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	312					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGTGCCTGACAGAATCTCAGC	0.498000													30	32					0	0	0.006320	0	0
RHBDF1	64285	broad.mit.edu	37	16	113013	113013	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:113013C>A	ENST00000262316.6	-	5	772	c.630G>T	c.(628-630)tcG>tcT	p.S210S	RHBDF1_ENST00000454039.2_Silent_p.S210S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	210					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCTTGGCCACCGACTCTCGCT	0.701000													13	11					1.15088e-07	1.3256e-07	0.004007	1	0
KIF4B	285643	broad.mit.edu	37	5	154397119	154397119	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:154397119C>T	ENST00000435029.4	+	1	3860	c.3700C>T	c.(3700-3702)Cac>Tac	p.H1234Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1234	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAAGAGGCCCACTGAAGTTG	0.478000													3	1					0	0	0.004672	0	0
SAGE1	55511	broad.mit.edu	37	X	134983781	134983781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:134983781A>T	ENST00000535938.1	+	3	318	c.151A>T	c.(151-153)Aga>Tga	p.R51*	SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R51*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.R51*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R51*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	51										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)					GAAACATTCCAGAAAATCCAA	0.408000													77	14					0	0	0.003610	0	0
GABRA2	2555	broad.mit.edu	37	4	46252441	46252441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46252441C>A	ENST00000510861.1	-	10	1413	c.1240G>T	c.(1240-1242)Gtt>Ttt	p.V414F	GABRA2_ENST00000356504.1_Missense_Mutation_p.V414F|GABRA2_ENST00000507069.1_Missense_Mutation_p.V474F|GABRA2_ENST00000381620.4_Missense_Mutation_p.V414F|GABRA2_ENST00000514090.1_Missense_Mutation_p.V414F|GABRA2_ENST00000540012.1_Missense_Mutation_p.V419F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	414					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTTTGCTAACACTGTTGAAA	0.393000													56	166					2.76378e-25	4.45881e-25	0.003610	1	0
PLXNA4	91584	broad.mit.edu	37	7	131829931	131829931	+	Silent	SNP	A	A	T	rs138367497	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:131829931A>T	ENST00000359827.3	-	29	6134	c.5172T>A	c.(5170-5172)gcT>gcA	p.A1724A	PLXNA4_ENST00000321063.4_Silent_p.A1724A			Q9HCM2	PLXA4_HUMAN	plexin A4	1724						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						CATGTTTATCAGCCTGCTCAT	0.577000													44	37					0	0	0.003610	0	0
CAPSL	133690	broad.mit.edu	37	5	35921107	35921107	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35921107G>C	ENST00000397367.2	-	2	242	c.116C>G	c.(115-117)gCt>gGt	p.A39G	CAPSL_ENST00000397366.1_Missense_Mutation_p.A39G|CAPSL_ENST00000514524.1_Missense_Mutation_p.A39G	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	39	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTTGATCCCAGCAGAGCCCCT	0.597000													50	118					0	0	0.003610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602333	13602333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:13602333C>A	ENST00000040738.5	-	10	6326	c.6191G>T	c.(6190-6192)gGt>gTt	p.G2064V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2064							DNA binding										TTGATTTTTACCCCCTGCTAA	0.433000													10	52					1.58986e-06	1.77505e-06	0.008291	1	0
CHD8	57680	broad.mit.edu	37	14	21863490	21863490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:21863490C>A	ENST00000399982.2	-	28	5213	c.5149G>T	c.(5149-5151)Gat>Tat	p.D1717Y	CHD8_ENST00000557364.1_Missense_Mutation_p.D1717Y|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D1438Y	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1717					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCTCCTCATCCATCATCATC	0.468000													4	10					0.00024832	0.000262197	0.009096	1	0
LHX3	8022	broad.mit.edu	37	9	139090759	139090759	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139090759C>A	ENST00000371746.3	-	4	734	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	LHX3_ENST00000371748.5_Missense_Mutation_p.V201L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	201					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGACCTGCACCACGCGCATG	0.741000													27	1					4.87955e-14	6.41359e-14	0.005443	1	0
TRIB2	28951	broad.mit.edu	37	2	12880825	12880825	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:12880825A>T	ENST00000155926.4	+	3	2356	c.937A>T	c.(937-939)Agc>Tgc	p.S313C	TRIB2_ENST00000381465.2_Missense_Mutation_p.S177C	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	313					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACAGATTTTAGCGTCTCGAA	0.517000													38	23					0	0	0.007835	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171001	70171001	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:70171001C>G	ENST00000253925.7	+	4	630	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V	AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L139V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	139					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCGGTCTCTTAGGATGAC	0.448000													56	145					0	0	0.003610	0	0
UNC79	57578	broad.mit.edu	37	14	94152940	94152940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94152940G>T	ENST00000553484.1	+	45	7179	c.7025G>T	c.(7024-7026)tGt>tTt	p.C2342F	UNC79_ENST00000393151.2_Missense_Mutation_p.C2320F|UNC79_ENST00000555664.1_Missense_Mutation_p.C2281F|UNC79_ENST00000256339.4_Missense_Mutation_p.C2143F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2320						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						GCGATGGAGTGTGTGAGGCAG	0.522000													11	24					1.08611e-07	1.25541e-07	0.000978	1	0
KCNH1	3756	broad.mit.edu	37	1	211280628	211280628	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:211280628C>A	ENST00000367007.4	-	2	340	c.171G>T	c.(169-171)agG>agT	p.R57S	KCNH1_ENST00000271751.4_Missense_Mutation_p.R57S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	57	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCACTTCTGCCCTGTGATAGC	0.388000													33	78					4.2108e-06	4.65629e-06	0.009535	1	0
VGLL1	51442	broad.mit.edu	37	X	135618368	135618368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:135618368G>T	ENST00000370634.3	+	2	359	c.189G>T	c.(187-189)caG>caT	p.Q63H		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCTCGAGTCAGAGTGAAGGTG	0.527000													30	7					1.13719e-10	1.4054e-10	0.008361	1	0
TPTE	7179	broad.mit.edu	37	21	10944758	10944758	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:10944758T>A	ENST00000298232.7	-	10	789	c.422A>T	c.(421-423)aAc>aTc	p.N141I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N159I|TPTE_ENST00000342420.5_Missense_Mutation_p.N121I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N159I(1)|p.N141I(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)		ATCTAAAATGTTAAATAAGTC	0.318000													18	36					0	0	0.004990	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037211	129037211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:129037211C>A	ENST00000274487.4	+	20	3212	c.3067C>A	c.(3067-3069)Ccc>Acc	p.P1023T	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1023	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGCATTGGGCCCAAGCCCGC	0.582000													39	11					5.44703e-19	7.98166e-19	0.009718	1	0
ABCA2	20	broad.mit.edu	37	9	139912785	139912785	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139912785C>T	ENST00000265662.5	-	14	1985	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	ABCA2_ENST00000341511.6_Missense_Mutation_p.R613Q|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.R612Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	612					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCGTCCTTCCGGGTCTGGAA	0.677000													46	5					0	0	0.003610	0	0
ERLIN2	11160	broad.mit.edu	37	8	37609233	37609233	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:37609233G>A	ENST00000276461.5	+	10	806	c.739_splice	c.e10+1	p.D247_splice	ERLIN2_ENST00000519638.1_Splice_Site_p.D247_splice	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	247	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGAAATTGAAGGTAAGCAGAA	0.527000													18	23					0	0	0.006122	0	0
CD96	10225	broad.mit.edu	37	3	111343206	111343206	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:111343206G>T	ENST00000352690.4	+	10	1516	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	CD96_ENST00000283285.5_Missense_Mutation_p.G442C	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	442	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GACTACCCGAGGCTTCAACTA	0.418000									Opitz Trigonocephaly syndrome				22	15					9.95505e-16	1.36604e-15	0.002299	1	0
HOXB4	3214	broad.mit.edu	37	17	46654196	46654196	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:46654196A>T	ENST00000332503.5	-	2	2435	c.644T>A	c.(643-645)aTg>aAg	p.M215K	HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TTTCCACTTCATGCGCCGGTT	0.652000													111	25					0	0	0.003610	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849661	98849661	+	RNA	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:98849661C>T	ENST00000554295.1	-	0	1262					NR_033801.1																						AGTTCTCTGCCTCAAAGAGCT	0.463000													26	41					0	0	0.003954	0	0
ACVR1B	91	broad.mit.edu	37	12	52385742	52385742	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52385742C>G	ENST00000257963.4	+	8	1434	c.1357C>G	c.(1357-1359)Cgt>Ggt	p.R453G	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401G|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494G|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453G|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	453	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCAGAAGCTGCGTCCCAACAT	0.498000													54	12					0	0	0.003610	0	0
ZNF358	140467	broad.mit.edu	37	19	7584982	7584982	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:7584982A>T	ENST00000597229.1	+	2	1024	c.854A>T	c.(853-855)cAc>cTc	p.H285L	ZNF358_ENST00000394341.2_Missense_Mutation_p.H285L|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	285					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTGCGCACGCACACGGGCGAG	0.741000													6	9					0	0	0.001984	0	0
KLK3	354	broad.mit.edu	37	19	51363378	51363378	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51363378C>A	ENST00000326003.2	+	5	822	c.781C>A	c.(781-783)Ccc>Acc	p.P261T	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Missense_Mutation_p.P218T	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	261					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGTGGCCAACCCCTGAGCACC	0.542000													29	101					2.70662e-09	3.24102e-09	0.009535	1	0
FGFR4	2264	broad.mit.edu	37	5	176520231	176520231	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176520231C>T	ENST00000292408.4	+	9	1395	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Silent_p.L384L|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	384					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGCTGTGCTCCTGCTGCTGGC	0.706000										TSP Lung(9;0.080)			34	7					0	0	0.002445	0	0
PRIM2	5558	broad.mit.edu	37	6	57372335	57372335	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:57372335G>T	ENST00000607273.1	+	8	828	c.741G>T	c.(739-741)caG>caT	p.Q247H	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	247					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAAGACTTCAGCCTCTGCTCA	0.413000													12	58					7.93312e-07	8.91285e-07	0.002450	1	0
ITIH5	80760	broad.mit.edu	37	10	7679202	7679202	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7679202C>A	ENST00000256861.6	-	5	719	c.641G>T	c.(640-642)gGg>gTg	p.G214V	ITIH5_ENST00000397145.2_Missense_Mutation_p.G214V|ITIH5_ENST00000397146.2_Missense_Mutation_p.G214V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	214					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						TTCCCCGCGCCCACTGCCCCT	0.622000													88	25					5.88579e-26	9.58208e-26	0.003610	1	0
RAB40AL	282808	broad.mit.edu	37	X	102192749	102192749	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:102192749C>T	ENST00000218249.5	+	1	550	c.503C>T	c.(502-504)aCg>aTg	p.T168M	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	168					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	p.T168M(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GAGTCTTTCACGGAGCTGGCC	0.612000													16	3					0	0	0.003163	0	0
TNK2	10188	broad.mit.edu	37	3	195594441	195594441	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:195594441G>A	ENST00000333602.6	-	12	3300	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	TNK2_ENST00000381916.2_Missense_Mutation_p.P973S|TNK2_ENST00000392400.1_Missense_Mutation_p.P895S|TNK2_ENST00000428187.1_Missense_Mutation_p.P927S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	895	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ctgggtgggggcagcagcaga	0.716000													7	20					0	0	0.001984	0	0
PTPRD	5789	broad.mit.edu	37	9	8485268	8485268	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:8485268A>T	ENST00000381196.4	-	26	3655	c.3112T>A	c.(3112-3114)Tgg>Agg	p.W1038R	PTPRD_ENST00000397606.3_Missense_Mutation_p.W617R|PTPRD_ENST00000397611.3_Missense_Mutation_p.W624R|PTPRD_ENST00000397617.3_Missense_Mutation_p.W617R|PTPRD_ENST00000540109.1_Missense_Mutation_p.W1038R|PTPRD_ENST00000360074.4_Missense_Mutation_p.W1025R|PTPRD_ENST00000537002.1_Missense_Mutation_p.W624R|PTPRD_ENST00000358503.5_Missense_Mutation_p.W1016R|PTPRD_ENST00000486161.1_Missense_Mutation_p.W627R|PTPRD_ENST00000356435.5_Missense_Mutation_p.W1038R|PTPRD_ENST00000355233.5_Missense_Mutation_p.W627R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1038	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGAATCTCCCAAGACAGCAAC	0.343000										TSP Lung(15;0.13)			19	2					0	0	0.010504	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217137	150217137	+	Silent	SNP	G	G	T	rs114459899	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150217137G>T	ENST00000313543.4	+	2	232	c.75G>T	c.(73-75)gcG>gcT	p.A25A		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	25							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAACAGCGAACACCATCC	0.512000													43	8					6.2361e-21	9.45521e-21	0.007835	1	0
EGFR	1956	broad.mit.edu	37	7	55266410	55266410	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55266410G>T	ENST00000275493.2	+	23	2879	c.2701_splice	c.e23-1	p.G901_splice	EGFR_ENST00000455089.1_Splice_Site_p.G856_splice|EGFR_ENST00000454757.2_Splice_Site_p.G848_splice|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	901	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATCCTCTCAGGGGTGACTGTT	0.468000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			22	187					5.35047e-06	5.89001e-06	0.003330	1	0
KCNA5	3741	broad.mit.edu	37	12	5153658	5153658	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:5153658G>T	ENST00000252321.3	+	1	574	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	115						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGGGCACGGCGTCCCTGCACC	0.697000													12	5					5.16669e-11	6.43788e-11	0.000978	1	0
METTL25	84190	broad.mit.edu	37	12	82871108	82871108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:82871108C>T	ENST00000248306.3	+	11	1765	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*		NM_032230.2	NP_115606.2			methyltransferase like 25																		TCTTCTGGATCGACTTTGTTA	0.294000													21	42					0	0	0.002299	0	0
KIF1A	547	broad.mit.edu	37	2	241724429	241724429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:241724429C>A	ENST00000498729.2	-	7	943	c.697G>T	c.(697-699)Gag>Tag	p.E233*	KIF1A_ENST00000320389.7_Nonsense_Mutation_p.E233*	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	233	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATATTGGTCTCTGCGTCATGG	0.607000													56	102					2.6711e-34	4.66138e-34	0.003610	1	0
CIRH1A	84916	broad.mit.edu	37	16	69184491	69184491	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:69184491C>A	ENST00000563094.1	+	7	824	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000314423.7_Missense_Mutation_p.Q264K|CIRH1A_ENST00000352319.4_Missense_Mutation_p.Q264K			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	264						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTTCCATTTTCAGCTGGTCCC	0.527000											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	24					1.66425e-11	2.09363e-11	0.004878	1	0
THSD7B	80731	broad.mit.edu	37	2	137917812	137917812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:137917812G>T	ENST00000409968.1	+	6	1577	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.V436L|THSD7B_ENST00000272643.3_Missense_Mutation_p.V467L|THSD7B_ENST00000543459.1_Intron					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)		GGCATTATGTGTGGGACCCGC	0.498000													25	56					1.5548e-18	2.25641e-18	0.005443	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527374	33527374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33527374G>T	ENST00000504830.1	-	24	5039	c.4704C>A	c.(4702-4704)tgC>tgA	p.C1568*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C1483*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1568	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACACGAGAAGCAGCACTCAG	0.493000										HNSCC(64;0.19)			101	306					4.49162e-49	8.31861e-49	0.003610	1	0
UMPS	7372	broad.mit.edu	37	3	124461062	124461062	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124461062A>T	ENST00000232607.2	+	5	1328	c.1222A>T	c.(1222-1224)Atg>Ttg	p.M408L	UMPS_ENST00000538242.1_Missense_Mutation_p.M230L|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.M316L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	408	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CCGAGTAAGCATGAAACCAGA	0.408000													80	89					0	0	0.003610	0	0
OR51F2	119694	broad.mit.edu	37	11	4843542	4843542	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4843542G>T	ENST00000322110.5	+	1	992	c.927G>T	c.(925-927)aaG>aaT	p.K309N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	309					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)		ACAGTGTAAAGATTAAGCAGA	0.383000													38	64					3.62531e-18	5.23419e-18	0.004289	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123758	31123758	+	Missense_Mutation	SNP	A	A	G	rs138870097		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31123758A>G	ENST00000304166.4	+	7	620	c.331A>G	c.(331-333)Atg>Gtg	p.M111V	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.M111V|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.M90V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.M111V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	111					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGCAGACATGGGAGTGGT	0.473000													68	26					0	0	0.003610	0	0
GPR17	2840	broad.mit.edu	37	2	128408340	128408340	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:128408340C>A	ENST00000544369.1	+	4	726	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	GPR17_ENST00000272644.3_Missense_Mutation_p.L39M|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.L39M|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	39						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		tcccccaggtctgatcaccaa	0.542000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	95					2.81731e-10	3.45569e-10	0.002096	1	0
WFS1	7466	broad.mit.edu	37	4	6303877	6303877	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:6303877C>T	ENST00000226760.1	+	8	2525	c.2355C>T	c.(2353-2355)agC>agT	p.S785S	WFS1_ENST00000503569.1_Silent_p.S785S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	785					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CATTCAGCAGCGGCGCTGACG	0.627000													11	26					0	0	0.003163	0	0
PIGS	94005	broad.mit.edu	37	17	26883204	26883204	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:26883204C>G	ENST00000308360.7	-	10	1536	c.1161G>C	c.(1159-1161)gaG>gaC	p.E387D	PIGS_ENST00000543734.1_Missense_Mutation_p.E326D|PIGS_ENST00000395346.2_Missense_Mutation_p.E379D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	387					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGAACACCTCCATCACTC	0.502000													51	48					0	0	0.003610	0	0
SC5D	6309	broad.mit.edu	37	11	121177947	121177947	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:121177947A>G	ENST00000264027.4	+	5	1000	c.626A>G	c.(625-627)cAt>cGt	p.H209R	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Missense_Mutation_p.H209R|SC5D_ENST00000392789.2_Missense_Mutation_p.H209R	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		ATTTCCATTCATGACGGTGAT	0.363000													86	117					0	0	0.003610	0	0
ASB17	127247	broad.mit.edu	37	1	76384776	76384776	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76384776T>C	ENST00000284142.6	-	3	888	c.749A>G	c.(748-750)tAc>tGc	p.Y250C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	250	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGGATCTTTGTATCTTGTTGA	0.313000													7	27					0	0	0.001984	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795381	142795381	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:142795381G>A	ENST00000370498.1	-	2	1050	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	99										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)					CCAGGTCTTCGTCCTCCTGTG	0.527000													7	210					0	0	0.004007	0	0
RNF43	54894	broad.mit.edu	37	17	56438273	56438273	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:56438273G>A	ENST00000584437.1	-	6	2675	c.720C>T	c.(718-720)atC>atT	p.I240I	RNF43_ENST00000577625.1_Silent_p.I113I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.I240I|RNF43_ENST00000581868.1_Silent_p.I113I|RNF43_ENST00000583753.1_Silent_p.I199I|RNF43_ENST00000500597.2_Silent_p.I199I|RNF43_ENST00000407977.2_Silent_p.I240I			Q68DV7	RNF43_HUMAN	ring finger protein 43	240						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCTGGCTGATGGCCCAGG	0.652000													19	4					0	0	0.010504	0	0
FAT4	79633	broad.mit.edu	37	4	126408613	126408613	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126408613G>A	ENST00000394329.3	+	16	12943	c.12930G>A	c.(12928-12930)ggG>ggA	p.G4310G	FAT4_ENST00000335110.5_Silent_p.G2551G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4310	Laminin G-like 2.				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						TTCTAATTGGGAAAAATGGAA	0.398000													9	31					0	0	0.000978	0	0
ATP10D	57205	broad.mit.edu	37	4	47537548	47537548	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47537548G>T	ENST00000273859.3	+	6	1068	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	ATP10D_ENST00000504445.1_Missense_Mutation_p.V267L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	267					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAAGAACGCGTGGGTCTCAG	0.378000													13	48					0.00316338	0.0032613	0.003163	1	0
AMER2	219287	broad.mit.edu	37	13	25744644	25744644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25744644G>T	ENST00000515384.1	-	1	1781	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AMER2_ENST00000381853.3_Intron|AMER2_ENST00000357816.2_Intron					APC membrane recruitment protein 2																		AAGCTTTTCAGTGAAGTCACG	0.572000													13	4					0.000422831	0.000445265	0.004007	1	0
XIST	7503	broad.mit.edu	37	X	73070100	73070100	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:73070100G>T	ENST00000429829.1	-	0	2488					NR_001564.2																						ATTTGACTTTGACTATCTACT	0.279000													14	1					1.49906e-05	1.63647e-05	0.002450	1	0
HMCN1	83872	broad.mit.edu	37	1	185815179	185815179	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:185815179C>A	ENST00000271588.4	+	2	519	c.290C>A	c.(289-291)aCc>aAc	p.T97N	HMCN1_ENST00000367492.2_Missense_Mutation_p.T97N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	97	VWFA.				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						GTGACAATTACCACAGATCCC	0.363000													21	16					1.50039e-11	1.8887e-11	0.001882	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803269	185803269	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:185803269G>C	ENST00000302277.6	+	4	3740	c.3146G>C	c.(3145-3147)tGt>tCt	p.C1049S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1049						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						AATGTACCATGTGAGGTCTAC	0.463000													24	45					0	0	0.002780	0	0
TRPC5	7224	broad.mit.edu	37	X	111195290	111195290	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:111195290C>G	ENST00000262839.2	-	2	1277	c.359G>C	c.(358-360)cGg>cCg	p.R120P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	120					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCGCTGGGCCGCCTGTAGCT	0.547000													46	6					0	0	0.002852	0	0
RERG	85004	broad.mit.edu	37	12	15370383	15370383	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:15370383C>A	ENST00000256953.2	-	2	377	c.41G>T	c.(40-42)aGa>aTa	p.R14I	RERG_ENST00000538313.1_Missense_Mutation_p.R14I|RERG_ENST00000546331.1_Missense_Mutation_p.R14I|RERG_ENST00000537647.1_Missense_Mutation_p.R14I|RERG_ENST00000536465.1_Missense_Mutation_p.R14I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	14					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACGCCTGCTCTCCCAAATAT	0.418000													60	16					2.165e-29	3.64544e-29	0.003610	1	0
RHCE	6006	broad.mit.edu	37	1	25701856	25701856	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:25701856C>A	ENST00000425135.1	-	6	950	c.865G>T	c.(865-867)Gtc>Ttc	p.V289F	RHCE_ENST00000455194.1_Silent_p.T274T|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Silent_p.T363T|RHCE_ENST00000349320.3_Silent_p.T363T|RHCE_ENST00000349438.4_Missense_Mutation_p.V335F|RHCE_ENST00000294413.7_Silent_p.T379T|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000346452.4_Silent_p.T228T|RHCE_ENST00000340849.4_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	0						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGACCAGACGTGAGAGCTA	0.572000													48	176					2.74695e-27	4.52832e-27	0.003610	1	0
TSIX	9383	broad.mit.edu	37	X	73046466	73046466	+	RNA	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:73046466T>G	ENST00000604411.1	+	0	34427				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGAAAAGAGGTAGGGTTTAGG	0.433000													66	12					0	0	0.003610	0	0
IGKV1D-33	28896	broad.mit.edu	37	2	89952927	89952927	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:89952927G>T	ENST00000390265.2	+	0	136																											CTGCTGCTCTGGCTCTCAGGT	0.517000													13	31					3.32936e-07	3.78818e-07	0.006122	1	0
SPEF2	79925	broad.mit.edu	37	5	35641549	35641549	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35641549C>A	ENST00000440995.2	+	3	178	c.178C>A	c.(178-180)Ctt>Att	p.L60I	SPEF2_ENST00000509059.1_Missense_Mutation_p.L60I|SPEF2_ENST00000356031.3_Missense_Mutation_p.L60I|SPEF2_ENST00000282469.6_Missense_Mutation_p.L60I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	60	CH.				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)			AAGTGCCAAACTTAATAATTT	0.373000													25	91					7.33532e-06	8.05696e-06	0.003954	1	0
COL6A3	1293	broad.mit.edu	37	2	238262032	238262032	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238262032A>T	ENST00000295550.4	-	25	7094	c.6642T>A	c.(6640-6642)ggT>ggA	p.G2214G	COL6A3_ENST00000409809.1_Silent_p.G2008G|COL6A3_ENST00000353578.4_Silent_p.G2008G|COL6A3_ENST00000347401.3_Silent_p.G2013G|COL6A3_ENST00000346358.4_Silent_p.G2014G|COL6A3_ENST00000472056.1_Silent_p.G1607G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2214	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGGCCAGGACCGCCCTTGT	0.532000													14	20					0	0	0.004007	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064772	60064772	+	Missense_Mutation	SNP	G	G	T	rs140018712		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:60064772G>T	ENST00000355131.3	+	4	470	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	MS4A4A_ENST00000395016.3_Missense_Mutation_p.G83W|MS4A4A_ENST00000337908.4_Missense_Mutation_p.G102W|MS4A4A_ENST00000532114.1_Missense_Mutation_p.G102W	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	102						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CGTGTATATCGGGTACACAAT	0.388000													35	21					8.73648e-17	1.22186e-16	0.004289	1	0
HSPB3	8988	broad.mit.edu	37	5	53751941	53751941	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:53751941G>T	ENST00000302005.1	+	1	497	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	108					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GGATGAGCACGGTTTTATCTC	0.473000													31	175					1.99505e-19	2.94536e-19	0.002445	1	0
TMEM68	137695	broad.mit.edu	37	8	56675305	56675305	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:56675305G>C	ENST00000434581.2	-	3	413	c.214C>G	c.(214-216)Cac>Gac	p.H72D	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.H72D|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.H72D|TMEM68_ENST00000521229.1_Missense_Mutation_p.H72D			Q96MH6	TMM68_HUMAN	transmembrane protein 68	72						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTATAAATGTGTAAGAAAATA	0.343000													38	31					0	0	0.004289	0	0
E4F1	1877	broad.mit.edu	37	16	2284322	2284322	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:2284322A>T	ENST00000301727.4	+	10	1574	c.1526A>T	c.(1525-1527)cAc>cTc	p.H509L	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.H509L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	509	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTGCGTGGCCACCGGCGCGTC	0.642000													19	25					0	0	0.007413	0	0
TLE2	7089	broad.mit.edu	37	19	3009671	3009671	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:3009671G>A	ENST00000262953.6	-	13	1304	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TLE2_ENST00000590536.1_Missense_Mutation_p.P349S|TLE2_ENST00000426948.2_Missense_Mutation_p.P362S|TLE2_ENST00000443826.3_Missense_Mutation_p.P226S|TLE2_ENST00000455444.2_Missense_Mutation_p.P226S|TLE2_ENST00000591529.1_Missense_Mutation_p.P362S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	348	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GTGGTGAAGGGACTGGACAGA	0.652000													18	0					0	0	0.007413	0	0
KIF17	57576	broad.mit.edu	37	1	21016807	21016807	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:21016807G>C	ENST00000247986.2	-	7	1565	c.1255C>G	c.(1255-1257)Cgg>Ggg	p.R419G	KIF17_ENST00000375044.1_Missense_Mutation_p.R319G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.R419G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	419					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTTTCAGCCGGGCCAGGCGC	0.562000													17	47					0	0	0.004990	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864461	4864461	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:4864461C>A	ENST00000379333.1	-	9	1043	c.651G>T	c.(649-651)ggG>ggT	p.G217G	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Silent_p.G217G|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	217					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGATGATGGCCCCCTGGATCT	0.517000													27	15					2.44723e-14	3.23608e-14	0.004656	1	0
GLB1L3	112937	broad.mit.edu	37	11	134182308	134182308	+	Silent	SNP	C	C	A	rs75421740		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:134182308C>A	ENST00000431683.2	+	14	1353	c.1353C>A	c.(1351-1353)tcC>tcA	p.S451S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	451					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCGGCCAGTCCTACGGGCTTG	0.592000													34	40					6.00712e-18	8.64762e-18	0.002445	1	0
CYP4F22	126410	broad.mit.edu	37	19	15636206	15636206	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15636206G>C	ENST00000269703.2	+	3	258	c.59G>C	c.(58-60)cGc>cCc	p.R20P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R20P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	20						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ACGGCGTTCCGCATATACGCG	0.622000													12	26					0	0	0.001368	0	0
VAV3	10451	broad.mit.edu	37	1	108138931	108138931	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:108138931G>T	ENST00000370056.4	-	25	2527	c.2253C>A	c.(2251-2253)ctC>ctA	p.L751L	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.L751L|VAV3_ENST00000544443.1_Silent_p.L155L|VAV3_ENST00000415432.2_Silent_p.L191L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	751	SH2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACCCTTCCTTGAGAGAATGAT	0.408000													22	42					2.37509e-13	3.08872e-13	0.010504	1	0
SLC27A5	10998	broad.mit.edu	37	19	59021368	59021368	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:59021368G>A	ENST00000263093.2	-	3	1012	c.903C>T	c.(901-903)ctC>ctT	p.L301L	SLC27A5_ENST00000601355.1_Silent_p.L217L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	301					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGGCTTCGGGAGGCCTTGGG	0.577000													10	47					0	0	0.008291	0	0
APBA2	321	broad.mit.edu	37	15	29346822	29346822	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29346822C>T	ENST00000558402.1	+	5	1334	c.735C>T	c.(733-735)gcC>gcT	p.A245A	APBA2_ENST00000561069.1_Silent_p.A245A|APBA2_ENST00000558330.1_Silent_p.A245A|APBA2_ENST00000411764.1_Silent_p.A245A|APBA2_ENST00000558259.1_Silent_p.A245A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	245	STXBP1-binding.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCACCAGCGCCAGTGAGGCCA	0.642000													68	42					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40981659	40981659	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40981659C>G	ENST00000313164.9	+	18	2875	c.2516C>G	c.(2515-2517)gCt>gGt	p.A839G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	839	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGCCTTGTGCTGCGGAAACC	0.587000													4	41					0	0	0.009096	0	0
SASH1	23328	broad.mit.edu	37	6	148852668	148852668	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:148852668G>T	ENST00000367467.3	+	13	1910	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	479							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGGACTCGGGCCTTGATGG	0.522000													43	7					2.01872e-29	3.40204e-29	0.003610	1	0
RXFP2	122042	broad.mit.edu	37	13	32356837	32356837	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:32356837T>C	ENST00000298386.2	+	11	953	c.882T>C	c.(880-882)ggT>ggC	p.G294G	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	294						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)		ATCAAATTGGTTTTGTTCCAG	0.388000													21	9					0	0	0.003954	0	0
TSGA13	114960	broad.mit.edu	37	7	130357665	130357665	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:130357665G>T	ENST00000456951.1	-	7	1290	c.439C>A	c.(439-441)Cct>Act	p.P147T	TSGA13_ENST00000356588.3_Missense_Mutation_p.P147T			Q96PP4	TSG13_HUMAN	testis specific, 13	147										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTTTTCTGAGGCATGCGGGGC	0.468000													32	6					1.13719e-10	1.4054e-10	0.008361	1	0
F8	2157	broad.mit.edu	37	X	154157366	154157366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:154157366T>A	ENST00000360256.4	-	14	4899	c.4699A>T	c.(4699-4701)Aga>Tga	p.R1567*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1567	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)	GTTGCTACTCTCAGAAAGGGA	0.478000													79	27					0	0	0.003610	0	0
PEX12	5193	broad.mit.edu	37	17	33903138	33903138	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33903138G>C	ENST00000225873.4	-	3	1350	c.743C>G	c.(742-744)tCt>tGt	p.S248C		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	248					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGCCAGTAGACAGGGATAA	0.453000													36	31					0	0	0.004878	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822270	43822270	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:43822270G>T	ENST00000389420.3	-	26	3718	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1240Q|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P358Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1240	TSP type-1 8.					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)		CTCATCAATTGGCTGATGGTA	0.443000													19	5					8.28177e-16	1.14041e-15	0.007413	1	0
CD86	942	broad.mit.edu	37	3	121822511	121822511	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121822511G>T	ENST00000330540.2	+	3	333	c.217G>T	c.(217-219)Gag>Tag	p.E73*	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.E67*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	73	Ig-like V-type.				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)	CTTAGGCAAAGAGAAATTTGA	0.428000													17	72					1.67942e-08	1.97608e-08	0.006122	1	0
FOXD2	2306	broad.mit.edu	37	1	47904182	47904182	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:47904182G>T	ENST00000334793.5	+	1	2494	c.375G>T	c.(373-375)ctG>ctT	p.L125L		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	125					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GGAGCCCGCTGGTGAAGCCGC	0.756000													16	33					1.15088e-07	1.3256e-07	0.004007	1	0
SLC27A6	28965	broad.mit.edu	37	5	128368848	128368848	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:128368848T>C	ENST00000262462.4	+	10	2743	c.1733T>C	c.(1732-1734)gTg>gCg	p.V578A	SLC27A6_ENST00000506176.1_Missense_Mutation_p.V578A|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V578A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	578					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATCAGTTGGTGGAAGATGGA	0.323000													24	2					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141730439	141730439	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:141730439A>T	ENST00000475668.2	+	12	1407		c.e12-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	TCCTATTTTTAGGATCCAGCC	0.453000													41	10					0	0	0.008740	0	0
DMBT1	1755	broad.mit.edu	37	10	124351009	124351009	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:124351009A>G	ENST00000368909.3	+	19	2258	c.2152A>G	c.(2152-2154)Atc>Gtc	p.I718V	DMBT1_ENST00000338354.3_Missense_Mutation_p.I718V|DMBT1_ENST00000344338.3_Missense_Mutation_p.I708V|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.I708V|DMBT1_ENST00000368956.2_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	718					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTTGTCGACCATCACGTTACC	0.438000													160	43					0	0	0.003610	0	0
BARHL2	343472	broad.mit.edu	37	1	91182132	91182132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:91182132G>T	ENST00000370445.4	-	1	662	c.621C>A	c.(619-621)tgC>tgA	p.C207*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	207						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACTCACCGTGGCATTTGATGT	0.602000													11	45					6.40141e-05	6.88493e-05	0.000978	1	0
FUT6	2528	broad.mit.edu	37	19	5832203	5832203	+	Missense_Mutation	SNP	G	G	A	rs111589452		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:5832203G>A	ENST00000318336.4	-	3	1570	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FUT6_ENST00000524754.1_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W|FUT6_ENST00000286955.5_Missense_Mutation_p.R126W	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	126					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	p.R126W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCCCTGCCGCCTCGGGGAG	0.617000													51	5					0	0	0.003610	0	0
RFX6	222546	broad.mit.edu	37	6	117239224	117239224	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:117239224G>T	ENST00000332958.2	+	10	1013	c.997G>T	c.(997-999)Gca>Tca	p.A333S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	333					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTCATTCCTGCAACAATGCA	0.289000													24	43					1.75199e-13	2.2799e-13	0.007291	1	0
PITRM1	10531	broad.mit.edu	37	10	3206021	3206021	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:3206021G>A	ENST00000380989.2	-	7	725	c.687C>T	c.(685-687)caC>caT	p.H229H	PITRM1_ENST00000451104.2_Silent_p.H197H|PITRM1_ENST00000224949.4_Silent_p.H229H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	197					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGAGTACGTGTGGTCAGGAA	0.448000													40	13					0	0	0.004878	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009860	41009860	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41009860G>A	ENST00000352632.3	+	12	1572	c.1486G>A	c.(1486-1488)Gca>Aca	p.A496T	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A496T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A496T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A496T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A496T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	496					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCATTGGCAGCCGAAGG	0.667000													38	8					0	0	0.006230	0	0
UNC79	57578	broad.mit.edu	37	14	94046646	94046646	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94046646A>T	ENST00000553484.1	+	19	2739	c.2585A>T	c.(2584-2586)cAg>cTg	p.Q862L	UNC79_ENST00000393151.2_Missense_Mutation_p.Q862L|UNC79_ENST00000555664.1_Missense_Mutation_p.Q862L|UNC79_ENST00000256339.4_Missense_Mutation_p.Q685L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	862						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						AACTTATGTCAGTCTAGTATC	0.468000													25	31					0	0	0.003954	0	0
CHRDL2	25884	broad.mit.edu	37	11	74413894	74413894	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:74413894G>T	ENST00000376332.3	-	9	1561	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A355A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	355					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CGTGTTCCAGGGCAAAGCGAC	0.612000											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	37					3.33393e-15	4.53055e-15	0.004878	1	0
COG6	57511	broad.mit.edu	37	13	40293944	40293944	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:40293944C>A	ENST00000416691.1	+	15	1664	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M	COG6_ENST00000455146.3_Missense_Mutation_p.L522M	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	522					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGACAGACGTCTGGAAATGCT	0.343000													16	5					3.52763e-06	3.90524e-06	0.004990	1	0
SMU1	55234	broad.mit.edu	37	9	33057642	33057642	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:33057642C>A	ENST00000397149.3	-	7	871	c.821G>T	c.(820-822)aGa>aTa	p.R274I	SMU1_ENST00000536631.1_Missense_Mutation_p.R113I	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	274						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TTCTGTATCTCTGCTGAAACA	0.398000													71	50					7.07328e-35	1.24098e-34	0.003610	1	0
OTX2	5015	broad.mit.edu	37	14	57268602	57268602	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:57268602G>T	ENST00000339475.5	-	5	1021	c.745C>A	c.(745-747)Cag>Aag	p.Q249K	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.Q241K|OTX2_ENST00000408990.3_Missense_Mutation_p.Q241K	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	241					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)					CCATATCCCTGGGTGGAAAGA	0.507000													21	48					2.32416e-17	3.30222e-17	0.002299	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125844477	125844477	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:125844477C>A	ENST00000393434.2	-	15	2131	c.1782G>T	c.(1780-1782)gtG>gtT	p.V594V	ALDH1L1_ENST00000452905.2_Silent_p.V493V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.V594V|ALDH1L1_ENST00000273450.3_Silent_p.V604V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	594	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGATCACCACTGTGTTCC	0.572000													15	57					4.7546e-09	5.66917e-09	0.004007	1	0
ANK2	287	broad.mit.edu	37	4	114274342	114274342	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:114274342C>A	ENST00000357077.4	+	38	4621	c.4568C>A	c.(4567-4569)aCa>aAa	p.T1523K	ANK2_ENST00000264366.6_Missense_Mutation_p.T1490K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443000													19	34					1.96292e-10	2.41524e-10	0.010504	1	0
LAMB3	3914	broad.mit.edu	37	1	209803114	209803114	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:209803114C>T	ENST00000391911.1	-	9	1489	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R367H|LAMB3_ENST00000356082.4_Missense_Mutation_p.R367H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	367	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.R367H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCTCCCGGGCGCCGGTTCCG	0.572000													15	61					0	0	0.002450	0	0
OR51B4	79339	broad.mit.edu	37	11	5322292	5322292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5322292C>A	ENST00000380224.1	-	1	934	c.885G>T	c.(883-885)caG>caT	p.Q295H	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTTTGAATCTGCTTGGTCT	0.433000													30	4					2.48696e-23	3.90325e-23	0.003271	1	0
HDAC9	9734	broad.mit.edu	37	7	19015535	19015535	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:19015535A>T	ENST00000406451.3	+	25	3270	c.3120A>T	c.(3118-3120)ctA>ctT	p.L1040L	HDAC9_ENST00000401921.1_Silent_p.L999L|HDAC9_ENST00000441542.2_Silent_p.L1043L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGCCTCCCTAACAGTGGATG	0.537000													30	19					0	0	0.009535	0	0
TERT	7015	broad.mit.edu	37	5	1293516	1293516	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1293516G>A	ENST00000310581.5	-	2	1542	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	TERT_ENST00000508104.2_Silent_p.I495I|TERT_ENST00000334602.6_Silent_p.I495I|TERT_ENST00000296820.5_Silent_p.I495I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	495	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCCCAGGGAGATGAACTTCT	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				30	42					0	0	0.002096	0	0
TM2D2	83877	broad.mit.edu	37	8	38848959	38848959	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:38848959C>A	ENST00000412303.1	-	4	802	c.408G>T	c.(406-408)aaG>aaT	p.K136N	TM2D2_ENST00000397070.2_Missense_Mutation_p.K136N|TM2D2_ENST00000456397.2_Missense_Mutation_p.K179N|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Missense_Mutation_p.K136N	NM_001024380.1|NM_001024381.1|NM_031940.3	NP_001019551.1|NP_001019552.1|NP_114146.3	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	179						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCGTCAACAGCTTCCCTACTG	0.488000													14	36					4.14922e-12	5.27375e-12	0.004007	1	0
TLL2	7093	broad.mit.edu	37	10	98170154	98170154	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98170154G>T	ENST00000357947.3	-	9	1351	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	376	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CAGACGCAGTGGGAGTAAGAT	0.567000													22	8					1.10923e-09	1.33802e-09	0.002780	1	0
TRERF1	55809	broad.mit.edu	37	6	42225903	42225903	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:42225903C>A	ENST00000541110.1	-	10	2934	c.2366G>T	c.(2365-2367)gGg>gTg	p.G789V	TRERF1_ENST00000354325.2_Missense_Mutation_p.G686V|TRERF1_ENST00000372917.4_Missense_Mutation_p.G686V|TRERF1_ENST00000340840.2_Missense_Mutation_p.G686V|TRERF1_ENST00000372922.4_Missense_Mutation_p.G769V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	769	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCTCCAGGCCCTGGGGTGAC	0.423000													13	33					2.23348e-06	2.47815e-06	0.004007	1	0
ATR	545	broad.mit.edu	37	3	142281082	142281082	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:142281082C>T	ENST00000350721.4	-	4	1283	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	ATR_ENST00000383101.3_Missense_Mutation_p.D388N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	388					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCTCTGCATCTACCTCAATT	0.313000								Other conserved DNA damage response genes					6	31					0	0	0.001984	0	0
CSMD1	64478	broad.mit.edu	37	8	2808674	2808674	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:2808674G>T	ENST00000602557.1	-	67	10721	c.10166C>A	c.(10165-10167)aCc>aAc	p.T3389N	CSMD1_ENST00000542608.1_Missense_Mutation_p.T3211N|CSMD1_ENST00000520002.1_Missense_Mutation_p.T3389N|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3212N|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3388N|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3212N			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													10	4					4.68919e-08	5.46192e-08	0.008291	1	0
SPRR2G	6706	broad.mit.edu	37	1	153122509	153122509	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153122509T>A	ENST00000368748.4	-	2	116	c.78A>T	c.(76-78)ccA>ccT	p.P26P		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	26	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGTGGACATGGCTCTGGGC	0.597000													30	51					0	0	0.002836	0	0
KLK2	3817	broad.mit.edu	37	19	51379992	51379992	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51379992G>T	ENST00000325321.3	+	3	696	c.471G>T	c.(469-471)tgG>tgT	p.W157C	KLK2_ENST00000391810.2_Missense_Mutation_p.W55C|KLK2_ENST00000358049.4_Missense_Mutation_p.W157C			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	157	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCTCAGGCTGGGGCAGCATCG	0.637000			T	ETV4	prostate								26	19					4.4004e-07	4.97514e-07	0.003330	1	0
HRNR	388697	broad.mit.edu	37	1	152192435	152192435	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152192435C>A	ENST00000368801.2	-	3	1745	c.1670G>T	c.(1669-1671)aGc>aTc	p.S557I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	557					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATAGCTGGAAGACTG	0.587000													83	134					3.76054e-38	6.69335e-38	0.003610	1	0
PDE1A	5136	broad.mit.edu	37	2	183129066	183129066	+	Silent	SNP	C	C	T	rs146558594		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:183129066C>T	ENST00000435564.1	-	2	377	c.177G>A	c.(175-177)gcG>gcA	p.A59A	PDE1A_ENST00000409365.1_Silent_p.A43A|PDE1A_ENST00000456212.1_Silent_p.A59A|PDE1A_ENST00000351439.5_Silent_p.A43A|PDE1A_ENST00000410103.1_Silent_p.A59A|PDE1A_ENST00000358139.2_Silent_p.A59A|PDE1A_ENST00000331935.6_Silent_p.A59A|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	59					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			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)			GCACAGATGCCGCATATTCAA	0.378000													15	24					0	0	0.007413	0	0
CSMD2	114784	broad.mit.edu	37	1	34174850	34174850	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:34174850C>A	ENST00000373381.4	-	22	3591	c.3415G>T	c.(3415-3417)Ggg>Tgg	p.G1139W	CSMD2_ENST00000373380.1_Missense_Mutation_p.G12W|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1099	CUB 7.					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)				ACTGAATTCCCACACTCAGCT	0.463000													10	28					0.000442599	0.000465084	0.006214	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627791	43627791	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43627791T>G	ENST00000332857.6	-	4	924	c.896A>C	c.(895-897)cAa>cCa	p.Q299P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AAGAGGATCTTGCTGGACTGA	0.557000													149	635					0	0	0.003610	0	0
MKX	283078	broad.mit.edu	37	10	28030410	28030410	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:28030410A>C	ENST00000375790.5	-	3	644	c.212T>G	c.(211-213)gTg>gGg	p.V71G	MKX_ENST00000419761.1_Missense_Mutation_p.V71G			Q8IYA7	MKX_HUMAN	mohawk homeobox	71					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V71G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTGTGCCTCACCTTCCCGCC	0.672000													12	59					0	0	0.005443	0	0
LCT	3938	broad.mit.edu	37	2	136594312	136594312	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:136594312C>A	ENST00000264162.2	-	1	438	c.428G>T	c.(427-429)aGa>aTa	p.R143I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	143	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)		GGCTTCGGTTCTCCGGAGGGT	0.602000													8	35					3.09899e-07	3.53425e-07	0.004482	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625384	43625384	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43625384G>T	ENST00000332857.6	-	4	3331	c.3303C>A	c.(3301-3303)ccC>ccA	p.P1101P		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGTGAATAGGGGGAAACATTG	0.478000													47	365					1.58458e-29	2.675e-29	0.003610	1	0
GNLY	10578	broad.mit.edu	37	2	85923143	85923143	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:85923143C>G	ENST00000409696.3	+	4	456	c.174C>G	c.(172-174)gtC>gtG	p.V58V	GNLY_ENST00000263863.4_Silent_p.V73V|GNLY_ENST00000524600.1_Silent_p.V100V|GNLY_ENST00000533041.1_3'UTR	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	73					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TGACGATAGTCCAAAAACTGA	0.552000													14	20					0	0	0.002450	0	0
ATP2A1	487	broad.mit.edu	37	16	28909350	28909350	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28909350C>T	ENST00000395503.4	+	13	1633	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	ATP2A1_ENST00000536376.1_Silent_p.F358F|ATP2A1_ENST00000357084.3_Silent_p.F483F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	483					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAAGGAATTCACCCTGGAGT	0.512000													46	79					0	0	0.002852	0	0
MX2	4600	broad.mit.edu	37	21	42767649	42767649	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:42767649G>T	ENST00000330714.3	+	7	1191	c.1007G>T	c.(1006-1008)aGg>aTg	p.R336M	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	336					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATCACAAACAGGCTGAGCTTG	0.478000													55	12					1.54043e-34	2.69062e-34	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	34105127	34105127	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:34105127C>T	ENST00000389232.4	+	73	10391	c.10321C>T	c.(10321-10323)Cct>Tct	p.P3441S	RYR3_ENST00000415757.3_Missense_Mutation_p.P3436S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3441					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)		GAGTGAAGAACCTTTCAATCC	0.458000													36	4					0	0	0.004878	0	0
DHX30	22907	broad.mit.edu	37	3	47890012	47890012	+	Silent	SNP	C	C	T	rs79236789		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:47890012C>T	ENST00000446256.2	+	17	3002	c.2430C>T	c.(2428-2430)gaC>gaT	p.D810D	DHX30_ENST00000348968.4_Silent_p.D821D|DHX30_ENST00000445061.1_Silent_p.D849D|DHX30_ENST00000457607.1_Silent_p.D877D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	849	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCAGTGGACGAGGCTGTGA	0.622000													46	103					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181702613	181702613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:181702613G>T	ENST00000526775.1	+	20	3097	c.2932G>T	c.(2932-2934)Gga>Tga	p.G978*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.G929*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.G978*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.G997*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.G997*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.G604*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.G948*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	997					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						CGGGCTGGCAGGAGGCCTTGA	0.617000													8	27					5.18039e-06	5.70598e-06	0.003080	1	0
DNAH2	146754	broad.mit.edu	37	17	7727220	7727220	+	Missense_Mutation	SNP	G	G	A	rs61739646		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7727220G>A	ENST00000572933.1	+	75	12858	c.11398G>A	c.(11398-11400)Gtg>Atg	p.V3800M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3800M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3800					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAGGACCGCGTGGCCTTCTG	0.582000													98	10					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123193425	123193425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:123193425C>T	ENST00000264501.4	+	48	8684	c.8311C>T	c.(8311-8313)Cag>Tag	p.Q2771*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q2771*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q2771*			Q2LD37	K1109_HUMAN	KIAA1109	2771					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTGAACCTCAGCATGTTAC	0.433000													12	18					0	0	0.002450	0	0
ASTN1	460	broad.mit.edu	37	1	176993767	176993767	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176993767G>T	ENST00000367654.2	-	6	1235	c.1222C>A	c.(1222-1224)Ctc>Atc	p.L408I	ASTN1_ENST00000367657.3_Missense_Mutation_p.L408I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L408I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L408I|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	408					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACAACGAGAGGGCAGTTG	0.537000													19	22					1.67942e-08	1.97608e-08	0.006122	1	0
ABCB5	340273	broad.mit.edu	37	7	20782625	20782625	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:20782625G>A	ENST00000404938.2	+	25	3802	c.3150G>A	c.(3148-3150)ggG>ggA	p.G1050G	ABCB5_ENST00000258738.6_Silent_p.G605G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	605					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						CATTTGTGGGGAGCAGCGGCT	0.478000													13	37					0	0	0.001368	0	0
NLRP13	126204	broad.mit.edu	37	19	56443530	56443530	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56443530C>A	ENST00000588751.1	-	1	172	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W	NLRP13_ENST00000342929.3_Missense_Mutation_p.G50W			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	50	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)		GGGAAGTGCCCCTGGGGGGCC	0.547000													51	49					1.56793e-16	2.18664e-16	0.003610	1	0
MUC17	140453	broad.mit.edu	37	7	100686953	100686953	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:100686953C>A	ENST00000306151.4	+	3	12320	c.12256C>A	c.(12256-12258)Cct>Act	p.P4086T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4086						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)					GACTGTGAACCCTGAGGCTGT	0.557000													87	15					2.33925e-33	4.06062e-33	0.003610	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255556	140255556	+	Missense_Mutation	SNP	C	C	A	rs17844352		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140255556C>A	ENST00000398631.2	+	1	499	c.499C>A	c.(499-501)Ctt>Att	p.L167I	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAACTCTCTTTTGACCTA	0.378000													47	14					8.78508e-14	1.15008e-13	0.003610	1	0
NEUROG3	50674	broad.mit.edu	37	10	71332416	71332416	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:71332416G>T	ENST00000242462.4	-	2	413	c.384C>A	c.(382-384)gcC>gcA	p.A128A		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	128	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGTAGTTGTGGGCGAAGCGCA	0.662000													29	3					1.39806e-14	1.86376e-14	0.008361	1	0
HERC2P3	283755	broad.mit.edu	37	15	20645832	20645832	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:20645832G>A	ENST00000428453.1	-	0	2933																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTGCAGCGTGAGAGCGATGC	0.617000													9	40					0	0	0.004482	0	0
SNAI2	6591	broad.mit.edu	37	8	49832656	49832656	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:49832656C>A	ENST00000396822.1	-	3	781	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	SNAI2_ENST00000020945.1_Missense_Mutation_p.G142W			O43623	SNAI2_HUMAN	snail family zinc finger 2	142					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTGGCCAGCCCAGAAAAAGTT	0.448000													33	72					6.50621e-10	7.91133e-10	0.002836	1	0
GPR98	84059	broad.mit.edu	37	5	89989938	89989938	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:89989938C>T	ENST00000405460.2	+	33	7461	c.7365C>T	c.(7363-7365)ttC>ttT	p.F2455F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2455					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)		TTTCATTTTTCAGTGCTTCTG	0.493000													18	8					0	0	0.006122	0	0
MUC13	56667	broad.mit.edu	37	3	124646687	124646687	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124646687G>T	ENST00000311075.3	-	2	241	c.203C>A	c.(202-204)cCt>cAt	p.P68H		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	68	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGGGGAGCAGGTGAAGTAGC	0.453000													58	187					4.88506e-25	7.86814e-25	0.003610	1	0
LRFN2	57497	broad.mit.edu	37	6	40360088	40360088	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:40360088C>T	ENST00000338305.6	-	3	2506	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	655						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)					CCCCATCAGGCGGTCAAGGCT	0.711000													5	10					0	0	0.001168	0	0
DPY19L2	283417	broad.mit.edu	37	12	63954414	63954414	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63954414C>A	ENST00000324472.4	-	22	2338	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	DPY19L2_ENST00000413230.2_Missense_Mutation_p.D166Y	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	719					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCTTCCACATCCCAGATTTCA	0.423000													16	3					0.00074312	0.000776719	0.006122	1	0
ANO4	121601	broad.mit.edu	37	12	101480565	101480565	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:101480565T>A	ENST00000392979.3	+	16	1920	c.1559T>A	c.(1558-1560)gTg>gAg	p.V520E	ANO4_ENST00000299222.9_Missense_Mutation_p.V75E|ANO4_ENST00000392977.3_Missense_Mutation_p.V555E|ANO4_ENST00000550015.1_Missense_Mutation_p.V75E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	555						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						GGGACTGCTGTGTGCATCAAC	0.483000										HNSCC(74;0.22)			51	9					0	0	0.003610	0	0
SEPT14	346288	broad.mit.edu	37	7	55902167	55902167	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55902167T>C	ENST00000388975.3	-	6	787	c.671A>G	c.(670-672)cAg>cGg	p.Q224R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	224					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)			TGTTGGGAGCTGATATATCTG	0.373000													23	23					0	0	0.001882	0	0
ADAM18	8749	broad.mit.edu	37	8	39486892	39486892	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:39486892G>T	ENST00000265707.5	+	7	567		c.e7-1		ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						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)			TTGTTTTCCAGATAAAAAATC	0.289000													19	23					1.01871e-10	1.26056e-10	0.008871	1	0
FBN2	2201	broad.mit.edu	37	5	127611786	127611786	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:127611786T>A	ENST00000508053.1	-	65	8512	c.7538A>T	c.(7537-7539)tAt>tTt	p.Y2513F	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2513F			P35556	FBN2_HUMAN	fibrillin 2	2513	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAACACTGATAACTCCCCTC	0.453000													52	7					0	0	0.003610	0	0
GPR162	27239	broad.mit.edu	37	12	6936231	6936231	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6936231T>G	ENST00000311268.3	+	5	2416	c.1629T>G	c.(1627-1629)ccT>ccG	p.P543P	GPR162_ENST00000382315.3_Silent_p.P239P|GPR162_ENST00000428545.2_Silent_p.P259P	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	543						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TTGGGTCCCCTGAGAGCAGAG	0.652000													71	16					0	0	0.003610	0	0
OR2T3	343173	broad.mit.edu	37	1	248637363	248637363	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:248637363G>T	ENST00000359594.2	+	1	737	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTCTGCCGCCGGCCACAGGAA	0.562000													156	39					4.10442e-84	7.89157e-84	0.003610	1	0
NEGR1	257194	broad.mit.edu	37	1	72748003	72748003	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:72748003T>A	ENST00000357731.4	-	1	414	c.176_splice	c.e1+1	p.R59_splice	NEGR1_ENST00000434200.1_Splice_Site_p.R57_splice	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	59	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCTTCCTACCTAAGCACCGCC	0.532000													29	19					0	0	0.007291	0	0
ATG2B	55102	broad.mit.edu	37	14	96769497	96769497	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:96769497C>A	ENST00000359933.4	-	33	5831	c.4938G>T	c.(4936-4938)caG>caT	p.Q1646H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1646										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTCAAGATCCTGAACAATGA	0.433000													14	21					0.000151284	0.000160863	0.001855	1	0
CLSTN2	64084	broad.mit.edu	37	3	140185544	140185544	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:140185544C>A	ENST00000458420.3	+	8	1505	c.1315C>A	c.(1315-1317)Ccc>Acc	p.P439T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	439					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACCTTTCGCCCCGCGGAGTT	0.562000										HNSCC(16;0.037)			15	39					1.5739e-10	1.94266e-10	0.004007	1	0
FAM63B	54629	broad.mit.edu	37	15	59102480	59102480	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:59102480G>A	ENST00000559228.1	+	4	1097	c.1015G>A	c.(1015-1017)Gta>Ata	p.V339I	FAM63B_ENST00000450403.2_Missense_Mutation_p.V339I			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	339										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGGCCTGGATGTAAATGTAAG	0.368000													18	13					0	0	0.002299	0	0
RGS21	431704	broad.mit.edu	37	1	192335248	192335248	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:192335248T>G	ENST00000417209.2	+	5	627	c.453T>G	c.(451-453)ttT>ttG	p.F151L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	151					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						GGCTCCCTTTTTTGTGAGGAA	0.328000													27	20					0	0	0.003954	0	0
UMOD	7369	broad.mit.edu	37	16	20355356	20355356	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20355356G>T	ENST00000396134.2	-	7	1543	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T	UMOD_ENST00000302509.4_Missense_Mutation_p.P441T|UMOD_ENST00000570689.1_Missense_Mutation_p.P441T|UMOD_ENST00000396142.2_Missense_Mutation_p.P441T|UMOD_ENST00000396138.4_Missense_Mutation_p.P490T|UMOD_ENST00000424589.1_Missense_Mutation_p.P474T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	441	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGACCATTGGCTGTAGGGCG	0.547000													21	27					1.50039e-11	1.8887e-11	0.001882	1	0
CCDC50	152137	broad.mit.edu	37	3	191093119	191093119	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:191093119C>G	ENST00000392456.3	+	6	1307	c.717C>G	c.(715-717)ccC>ccG	p.P239P	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	269	Lys-rich.					cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CTCTGCTTCCCACGATCAGTG	0.498000													9	17					0	0	0.004482	0	0
USP28	57646	broad.mit.edu	37	11	113670056	113670056	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:113670056G>T	ENST00000003302.4	-	25	3208	c.3140C>A	c.(3139-3141)cCa>cAa	p.P1047Q	USP28_ENST00000545540.1_Missense_Mutation_p.P890Q|USP28_ENST00000260188.5_Missense_Mutation_p.P1015Q|USP28_ENST00000544967.1_Missense_Mutation_p.P723Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1047					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCGAATTGTTGGAGGCTCTTT	0.463000													31	86					8.88839e-20	1.32116e-19	0.002096	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543015	133543015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133543015G>T	ENST00000409261.1	-	14	1742	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NCKAP5_ENST00000317721.6_Missense_Mutation_p.L457M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGCTCCCCAGGTCAGCTGTT	0.473000													40	24					2.19358e-23	3.45107e-23	0.005524	1	0
ATRN	8455	broad.mit.edu	37	20	3559354	3559354	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3559354A>T	ENST00000262919.5	+	15	2547	c.2479A>T	c.(2479-2481)Aca>Tca	p.T827S	ATRN_ENST00000446916.2_Missense_Mutation_p.T827S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	827	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGCTTCTCTTACAACCCAGAA	0.383000													9	60					0	0	0.004482	0	0
ECE1	1889	broad.mit.edu	37	1	21586789	21586789	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:21586789T>C	ENST00000415912.2	-	5	667	c.542A>G	c.(541-543)aAa>aGa	p.K181R	ECE1_ENST00000436918.2_Missense_Mutation_p.K197R|ECE1_ENST00000374893.6_Missense_Mutation_p.K197R|ECE1_ENST00000357071.4_Missense_Mutation_p.K185R|ECE1_ENST00000264205.6_Missense_Mutation_p.K194R	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	197					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CATTAGAGGTTTGGCCCTGAG	0.622000													91	270					0	0	0.003610	0	0
SIRPA	140885	broad.mit.edu	37	20	1915365	1915365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:1915365C>A	ENST00000358771.4	+	7	1383	c.1231C>A	c.(1231-1233)Cat>Aat	p.H411N	SIRPA_ENST00000356025.3_Missense_Mutation_p.H411N|SIRPA_ENST00000400068.3_Missense_Mutation_p.H411N	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	411					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TTTTAGGTTGCATGAGCCCGA	0.438000													53	22					1.13709e-37	2.01477e-37	0.003610	1	0
FAM155A	728215	broad.mit.edu	37	13	108518057	108518057	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:108518057C>A	ENST00000375915.2	-	1	1026	c.888G>T	c.(886-888)tcG>tcT	p.S296S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	296						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGGATTTCACCGAGTACTCCT	0.498000													42	36					1.96642e-18	2.84957e-18	0.006999	1	0
ZNF423	23090	broad.mit.edu	37	16	49671721	49671721	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:49671721C>A	ENST00000561648.1	-	4	1395	c.1342G>T	c.(1342-1344)Gac>Tac	p.D448Y	ZNF423_ENST00000563137.2_Missense_Mutation_p.D388Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.D388Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.D448Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.D331Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.D331Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.D388Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	448					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)				GGCATGGAGTCCAGGCAGATC	0.567000													44	18					9.84934e-19	1.43575e-18	0.002522	1	0
TSG101	7251	broad.mit.edu	37	11	18528444	18528444	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18528444C>T	ENST00000536719.1	-	6	642	c.508G>A	c.(508-510)Gga>Aga	p.G170R	TSG101_ENST00000357193.3_Missense_Mutation_p.G65R|TSG101_ENST00000251968.3_Missense_Mutation_p.G170R|TSG101_ENST00000543087.1_5'UTR			Q99816	TS101_HUMAN	tumor susceptibility 101	170					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GGAGAGATTCCACCTGGCATG	0.353000													18	32					0	0	0.002299	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361749	105361749	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:105361749A>G	ENST00000297581.2	+	2	1018	c.969A>G	c.(967-969)tcA>tcG	p.S323S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	323					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCATTTTCTCAGTGAGCAAGC	0.488000													70	383					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874766	47874766	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:47874766C>A	ENST00000289672.2	-	38	6069	c.6019G>T	c.(6019-6021)Gcc>Tcc	p.A2007S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2007					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGAGCTGGGCCCCTGGAGAA	0.602000													18	38					2.4624e-09	2.95397e-09	0.008871	1	0
PLCB4	5332	broad.mit.edu	37	20	9402015	9402015	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:9402015C>A	ENST00000378501.2	+	23	2205	c.2190C>A	c.(2188-2190)ccC>ccA	p.P730P	PLCB4_ENST00000414679.2_Silent_p.P742P|PLCB4_ENST00000378493.1_Silent_p.P730P|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.P730P|PLCB4_ENST00000378473.3_Silent_p.P742P|PLCB4_ENST00000278655.4_Silent_p.P730P	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	730	C2.				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						ATGGGTTGCCCACTGACACCA	0.418000													12	56					0.000978159	0.00101913	0.000978	1	0
WNT2B	7482	broad.mit.edu	37	1	113058873	113058873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:113058873C>A	ENST00000369684.4	+	3	1000	c.515C>A	c.(514-516)aCc>aAc	p.T172N	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.T153N|WNT2B_ENST00000256640.5_Missense_Mutation_p.T80N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	172					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCCCTACACCCGTGGCCGA	0.577000													37	62					1.59361e-14	2.11441e-14	0.006999	1	0
URGCP	55665	broad.mit.edu	37	7	43918044	43918044	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:43918044C>T	ENST00000336086.6	-	4	3125	c.889G>A	c.(889-891)Gac>Aac	p.D297N	URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.D297N|URGCP_ENST00000223341.7_Missense_Mutation_p.D297N|URGCP_ENST00000453200.1_Missense_Mutation_p.D340N|URGCP_ENST00000443736.1_Missense_Mutation_p.D297N|URGCP_ENST00000402306.3_Missense_Mutation_p.D331N			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	340					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCCGATGTCACCTCTCAGG	0.453000													20	73					0	0	0.001882	0	0
ZNF831	128611	broad.mit.edu	37	20	57768318	57768318	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:57768318G>T	ENST00000371030.2	+	1	2244	c.2244G>T	c.(2242-2244)ctG>ctT	p.L748L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	748						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)					GGAGCCCCCTGGTCTCTCCAA	0.642000													16	1					2.23348e-06	2.47815e-06	0.004007	1	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723798	50723798	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50723798C>A	ENST00000515869.1	-	6	2887	c.2767G>T	c.(2767-2769)Gtg>Ttg	p.V923L	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.V923L|PGBD3_ENST00000508005.2_Missense_Mutation_p.V455L|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.V923L|PGBD3_ENST00000374127.3_Missense_Mutation_p.V455L	NM_001277059.1	NP_001263988.1																					TGGTTATACACTTTGATCATG	0.438000													100	54					1.85599e-38	3.31245e-38	0.003610	1	0
KALRN	8997	broad.mit.edu	37	3	124356147	124356147	+	Missense_Mutation	SNP	G	G	T	rs116780710	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124356147G>T	ENST00000360013.3	+	37	5785	c.5658G>T	c.(5656-5658)aaG>aaT	p.K1886N	KALRN_ENST00000393496.1_Intron|KALRN_ENST00000291478.4_Missense_Mutation_p.K189N|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000459915.1_5'UTR	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1885					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						TCAAAAACAAGCTGGTAAGTG	0.522000													56	47					7.89702e-26	1.28245e-25	0.003610	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134472091	134472091	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:134472091C>T	ENST00000319914.5	-	9	1966	c.939G>A	c.(937-939)acG>acA	p.T313T	ST3GAL1_ENST00000521180.1_Silent_p.T313T|ST3GAL1_ENST00000522652.1_Silent_p.T313T|ST3GAL1_ENST00000399640.2_Silent_p.T313T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	313					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGTGCACCCCCGTCTTGCGAA	0.572000													49	76					0	0	0.003610	0	0
ABCA10	10349	broad.mit.edu	37	17	67186585	67186585	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:67186585T>A	ENST00000269081.4	-	19	2954	c.2045A>T	c.(2044-2046)cAg>cTg	p.Q682L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	682					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTTATGCCCTGGTCAGAACA	0.313000													27	8					0	0	0.009535	0	0
GABRQ	55879	broad.mit.edu	37	X	151821301	151821301	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:151821301G>T	ENST00000370306.2	+	9	1476	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	486						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAACCGTGTCGAAGCCCA	0.552000													52	14					2.12129e-23	3.34268e-23	0.003610	1	0
PLCB1	23236	broad.mit.edu	37	20	8689329	8689329	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8689329G>T	ENST00000378641.3	+	12	1655	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A394S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A394S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	394	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGTGATAGAAGCAATTGCGGA	0.333000													17	8					5.03518e-11	6.278e-11	0.007413	1	0
PGR	5241	broad.mit.edu	37	11	100933247	100933247	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:100933247G>A	ENST00000325455.5	-	4	3596	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	PGR_ENST00000534013.1_Silent_p.L121L|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	715	Steroid-binding.				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)	AGACTTGTCAGCAAAGAACTG	0.388000													34	74					0	0	0.003755	0	0
TMTC1	83857	broad.mit.edu	37	12	29904704	29904704	+	Missense_Mutation	SNP	C	C	G	rs146096763	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:29904704C>G	ENST00000256062.5	-	5	982	c.509G>C	c.(508-510)cGg>cCg	p.R170P	TMTC1_ENST00000381224.2_Missense_Mutation_p.R170P|TMTC1_ENST00000552618.1_Missense_Mutation_p.R278P|TMTC1_ENST00000551659.1_Missense_Mutation_p.R278P|TMTC1_ENST00000539277.1_Missense_Mutation_p.R278P	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	278						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTGAGGGAACCGCTGCTGCTT	0.647000													12	31					0	0	0.001855	0	0
MYH13	8735	broad.mit.edu	37	17	10265475	10265475	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10265475G>T	ENST00000418404.3	-	4	628	c.465C>A	c.(463-465)atC>atA	p.I155I	MYH13_ENST00000570743.1_Silent_p.I155I|MYH13_ENST00000252172.4_Silent_p.I155I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	155	Myosin head-like.				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						AGATGGAGAAGATGTGGGGCG	0.488000													101	78					2.91419e-48	5.38193e-48	0.003610	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577021	33577021	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33577021C>A	ENST00000504830.1	-	19	3445	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G952V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1037	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1037A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGACTCAGGCCCTGTGGGTGT	0.527000										HNSCC(64;0.19)			90	111					7.63117e-38	1.35458e-37	0.003610	1	0
SPEG	10290	broad.mit.edu	37	2	220354191	220354191	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220354191C>G	ENST00000312358.7	+	36	8583	c.8451C>G	c.(8449-8451)gtC>gtG	p.V2817V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2817	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)		CCCCGTCAGTCACTGTCAGCC	0.672000													4	60					0	0	0.009096	0	0
WSCD1	23302	broad.mit.edu	37	17	5998421	5998421	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:5998421G>T	ENST00000574946.1	+	5	1117		c.e5-1		WSCD1_ENST00000539421.1_Splice_Site|WSCD1_ENST00000317744.5_Splice_Site|WSCD1_ENST00000573634.1_Splice_Site|WSCD1_ENST00000574232.1_Splice_Site			Q658N2	WSCD1_HUMAN	WSC domain containing 1							integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTTCCCCCAGGGCGGACCGC	0.557000													46	129					1.67753e-36	2.95636e-36	0.003610	1	0
DLGAP4	22839	broad.mit.edu	37	20	35127691	35127691	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:35127691C>T	ENST00000373913.3	+	9	2537	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L	DLGAP4_ENST00000373907.2_Intron|DLGAP4_ENST00000475894.1_Intron|DLGAP4_ENST00000340491.4_Intron|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P686L|DLGAP4_ENST00000339266.5_Intron			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	684					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACAACGGACCCAAAGCGATC	0.572000													27	7					0	0	0.002445	0	0
HIPK1	204851	broad.mit.edu	37	1	114499307	114499307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114499307G>T	ENST00000369558.1	+	6	1698	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	HIPK1_ENST00000369553.1_Missense_Mutation_p.R95I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R489I|HIPK1_ENST00000426820.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R489I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R95I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R115I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	489	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGACCGAAGAGAATACATT	0.378000													14	16					0.00244969	0.00253483	0.002450	1	0
XIRP2	129446	broad.mit.edu	37	2	168102750	168102750	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168102750G>T	ENST00000409195.1	+	9	4937	c.4848G>T	c.(4846-4848)agG>agT	p.R1616S	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1616S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1394S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1441					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						TTTCCAAAAGGGACTGTACTG	0.338000													15	12					1.52009e-12	1.95611e-12	0.003163	1	0
TRPM1	4308	broad.mit.edu	37	15	31294182	31294182	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:31294182C>G	ENST00000542188.1	-	27	5085	c.4772G>C	c.(4771-4773)aGt>aCt	p.S1591T	TRPM1_ENST00000397795.2_Missense_Mutation_p.S1552T|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1574T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1552					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATGTAAACTTTTTGACCT	0.428000													75	15					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168099742	168099742	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168099742G>C	ENST00000409195.1	+	9	1929	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	XIRP2_ENST00000295237.9_Missense_Mutation_p.V614L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V392L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	439					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						TGGTGGTGATGTGAAATATAC	0.428000													17	35					0	0	0.006122	0	0
DNAH11	8701	broad.mit.edu	37	7	21784174	21784174	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21784174T>A	ENST00000328843.6	+	51	8325	c.8294T>A	c.(8293-8295)tTg>tAg	p.L2765*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.L2758*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2765					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						GATTGTGATTTGTTTCAGAGA	0.378000									Kartagener syndrome				40	106					0	0	0.006230	0	0
SF3B2	10992	broad.mit.edu	37	11	65826990	65826990	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65826990A>G	ENST00000528302.1	+	11	1328	c.1274A>G	c.(1273-1275)aAg>aGg	p.K425R	SF3B2_ENST00000322535.6_Missense_Mutation_p.K442R			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	442					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTCTAGGAAAAGAAGCCAGAA	0.502000													30	72					0	0	0.008361	0	0
PSKH2	85481	broad.mit.edu	37	8	87076713	87076713	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87076713G>T	ENST00000276616.2	-	2	407	c.333C>A	c.(331-333)gtC>gtA	p.V111V	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	111	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)			CCCGCCGCAGGACGCTCAGCT	0.512000													25	25					1.75199e-13	2.2799e-13	0.007291	1	0
INTS1	26173	broad.mit.edu	37	7	1523719	1523719	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:1523719G>A	ENST00000389470.4	-	26	3834	c.3835C>T	c.(3835-3837)Ctg>Ttg	p.L1279L	INTS1_ENST00000404767.3_Silent_p.L1117L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1117					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)		AGAGCGCTCAGCACGGCGTCC	0.652000													69	8					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152323648	152323648	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152323648C>A	ENST00000388718.5	-	3	6686	c.6614G>T	c.(6613-6615)gGa>gTa	p.G2205V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2205							calcium ion binding|structural molecule activity	p.G2205V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGAGATCCGGCTTGGCT	0.507000													117	206					7.84169e-52	1.46056e-51	0.003610	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389150	39389150	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39389150G>A	ENST00000411528.2	+	1	436	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	133	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCAGCCTGCTGTGA	0.577000													139	38					0	0	0.003610	0	0
TBX10	347853	broad.mit.edu	37	11	67402313	67402313	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67402313G>A	ENST00000335385.3	-	3	438	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	117					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CCAGGGGGATGAAGTCCATGA	0.632000													25	51					0	0	0.003954	0	0
FAM47A	158724	broad.mit.edu	37	X	34149686	34149686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34149686G>T	ENST00000346193.3	-	1	761	c.710C>A	c.(709-711)cCg>cAg	p.P237Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	237	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		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						TGGAGGCTCCGGGCGGAGATG	0.632000													28	5					3.73148e-12	4.75509e-12	0.007291	1	0
DUSP27	92235	broad.mit.edu	37	1	167097651	167097651	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167097651T>A	ENST00000361200.2	+	6	3449	c.3283T>A	c.(3283-3285)Tct>Act	p.S1095T	DUSP27_ENST00000271385.5_Missense_Mutation_p.S1095T|DUSP27_ENST00000443333.1_Missense_Mutation_p.S1095T|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1095					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						CTTTATGAGGTCTGAAGAAGA	0.517000													11	8					0	0	0.008291	0	0
REN	5972	broad.mit.edu	37	1	204128682	204128682	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:204128682C>G	ENST00000367195.2	-	5	577	c.534G>C	c.(532-534)acG>acC	p.T178T	REN_ENST00000272190.8_Silent_p.T178T			P00797	RENI_HUMAN	renin	178					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CGGGCATCTCCGTGACCTCTC	0.577000													15	34					0	0	0.004007	0	0
MED14	9282	broad.mit.edu	37	X	40531114	40531114	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:40531114T>C	ENST00000324817.1	-	23	3250	c.3133_splice	c.e23+1	p.P1044_splice		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1044	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATATCTTACCTGGAGACTGTG	0.433000													61	9					0	0	0.003610	0	0
GNAL	2774	broad.mit.edu	37	18	11752922	11752922	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:11752922C>A	ENST00000334049.6	+	2	1055	c.447C>A	c.(445-447)ccC>ccA	p.P149P	GNAL_ENST00000269162.5_Silent_p.P72P|GNAL_ENST00000423027.3_Silent_p.P72P|GNAL_ENST00000535121.1_Silent_p.P72P	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	72					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGTTTAATCCCGAGTAAGAAT	0.428000													33	3					3.67414e-24	5.85064e-24	0.002445	1	0
FXYD6	53826	broad.mit.edu	37	11	117710519	117710519	+	Nonstop_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117710519A>G	ENST00000526014.1	-	7	881	c.286T>C	c.(286-288)Tga>Cga	p.*96R	FXYD6-FXYD2_ENST00000532984.1_Silent_p.T83T|FXYD6_ENST00000530956.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000524656.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000540359.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000529335.2_Silent_p.T86T|FXYD6_ENST00000527717.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000539526.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000260282.4_Nonstop_Mutation_p.*96R|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000584394.1_Missense_Mutation_p.L79P|FXYD6_ENST00000583233.1_5'UTR	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GCTGCACTTCAGTTCTCTGCT	0.577000													69	67					0	0	0.003610	0	0
CHTOP	26097	broad.mit.edu	37	1	153617542	153617542	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153617542C>T	ENST00000368694.3	+	6	856	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Missense_Mutation_p.R136W|CHTOP_ENST00000368687.1_Missense_Mutation_p.R157W|CHTOP_ENST00000403433.1_Missense_Mutation_p.R136W	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	182	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						TGGGCCAGGTCGGGGTATGAT	0.542000													19	30					0	0	0.008871	0	0
POU4F2	5458	broad.mit.edu	37	4	147560530	147560530	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147560530G>T	ENST00000281321.3	+	1	486	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	80	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					tggcagcagcggcggcggggg	0.697000													10	17					2.27111e-07	2.60218e-07	0.001368	1	0
SLIT3	6586	broad.mit.edu	37	5	168180966	168180966	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168180966C>A	ENST00000519560.1	-	17	2151	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y	SLIT3_ENST00000404867.3_Missense_Mutation_p.D578Y|SLIT3_ENST00000332966.8_Missense_Mutation_p.D578Y	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	578					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)			GCTGCTCCATCGAAAGCTCCC	0.532000													8	6					5.18039e-06	5.70598e-06	0.003080	1	0
GBA3	57733	broad.mit.edu	37	4	22737615	22737615	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:22737615G>A	ENST00000503442.1	+	0	161				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCTGGGATGCAGATGGAAA	0.438000													15	32					0	0	0.004007	0	0
REPS1	85021	broad.mit.edu	37	6	139226204	139226204	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:139226204T>C	ENST00000450536.2	-	20	2962	c.2388A>G	c.(2386-2388)ctA>ctG	p.L796L	REPS1_ENST00000258062.5_Silent_p.L795L|REPS1_ENST00000415951.2_Silent_p.L737L|REPS1_ENST00000367663.4_Silent_p.L769L|REPS1_ENST00000409812.2_Silent_p.L705L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	796	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATTGGCTTATAGGTGAGAGA	0.398000													13	5					0	0	0.001855	0	0
TERT	7015	broad.mit.edu	37	5	1294381	1294381	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1294381A>T	ENST00000310581.5	-	2	677	c.620T>A	c.(619-621)gTc>gAc	p.V207D	TERT_ENST00000508104.2_Missense_Mutation_p.V207D|TERT_ENST00000334602.6_Missense_Mutation_p.V207D|TERT_ENST00000296820.5_Missense_Mutation_p.V207D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	207	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCTCCCTGACGCTATGGTT	0.736000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				12	20					0	0	0.002450	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769886	112769886	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:112769886G>A	ENST00000390666.3	-	1	842	c.651C>T	c.(649-651)gaC>gaT	p.D217D	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	217	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)		TGTTGGAGTCGTCGTAGGGCA	0.577000													37	2					0	0	0.007835	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914788	158914788	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158914788C>T	ENST00000368140.1	+	7	1560	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P430S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P430S|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P439S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	439					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTCAAGACTCCTCAGATGCC	0.493000													39	61					0	0	0.002522	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464484	110464484	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110464484T>A	ENST00000378402.5	+	42	6586	c.6482T>A	c.(6481-6483)aTc>aAc	p.I2161N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2161	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTGTCCACATCAGAGGTGTC	0.458000										HNSCC(38;0.096)			14	29					0	0	0.004007	0	0
SRRD	402055	broad.mit.edu	37	22	26887615	26887615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26887615G>T	ENST00000215917.6	+	7	1011	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	333					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACAAGAGAGAAGATCCTTC	0.468000													9	58					2.74318e-10	3.37318e-10	0.006214	1	0
AIFM3	150209	broad.mit.edu	37	22	21329084	21329084	+	Nonsense_Mutation	SNP	C	C	A	rs138399322		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:21329084C>A	ENST00000399167.2	+	8	939	c.699C>A	c.(697-699)taC>taA	p.Y233*	AIFM3_ENST00000399163.2_Nonsense_Mutation_p.Y233*|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.Y233*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.Y239*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.Y233*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.Y221*|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACCTTCCCTACGACCGTCCCA	0.627000													148	4					5.24422e-81	1.00732e-80	0.003610	1	0
NUP214	8021	broad.mit.edu	37	9	134103702	134103702	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:134103702A>T	ENST00000359428.5	+	33	6202	c.6058A>T	c.(6058-6060)Agc>Tgc	p.S2020C	NUP214_ENST00000451030.1_Missense_Mutation_p.S2021C|NUP214_ENST00000483497.2_Missense_Mutation_p.S846C|NUP214_ENST00000411637.2_Missense_Mutation_p.S2010C			P35658	NU214_HUMAN	nucleoporin 214kDa	2020	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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)		TGCAGCTGCCAGCGCAGGAGG	0.607000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								41	5					0	0	0.003214	0	0
ASTN1	460	broad.mit.edu	37	1	176903322	176903322	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176903322C>G	ENST00000367654.2	-	16	2674	c.2661G>C	c.(2659-2661)cgG>cgC	p.R887R	ASTN1_ENST00000367657.3_Silent_p.R879R|ASTN1_ENST00000361833.2_Silent_p.R879R|ASTN1_ENST00000424564.2_Silent_p.R879R			O14525	ASTN1_HUMAN	astrotactin 1	887					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGAGTCGCCGCTGGACCT	0.502000													22	33					0	0	0.003954	0	0
SSPO	23145	broad.mit.edu	37	7	149480302	149480302	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:149480302G>A	ENST00000378016.2	+	0	2184							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)			AGTTCCAGGTGGCCGGCAAGG	0.622000													16	13					0	0	0.003163	0	0
FBXL7	23194	broad.mit.edu	37	5	15928421	15928421	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:15928421G>T	ENST00000504595.1	+	3	1031	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L	FBXL7_ENST00000510662.1_Missense_Mutation_p.V137L|FBXL7_ENST00000329673.7_Missense_Mutation_p.V172L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	184					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACCCCCAACGTGTGTCTCAT	0.647000													21	27					1.64113e-05	1.79058e-05	0.010504	1	0
CDHR2	54825	broad.mit.edu	37	5	176011191	176011191	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176011191G>A	ENST00000510636.1	+	18	2333	c.2058_splice	c.e18-1	p.D687_splice	CDHR2_ENST00000261944.5_Splice_Site_p.D687_splice|CDHR2_ENST00000506348.1_Splice_Site_p.D687_splice	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	687	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			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						CTGACTGCAGGACATCAATGA	0.537000													29	11					0	0	0.008361	0	0
MYO3A	53904	broad.mit.edu	37	10	26500939	26500939	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:26500939G>A	ENST00000543632.1	+	17	2004	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGCCTGCGGGGCAGCAGG	0.697000													4	30					0	0	0.009096	0	0
PGM2	55276	broad.mit.edu	37	4	37857304	37857304	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:37857304A>T	ENST00000381967.4	+	13	1778	c.1678A>T	c.(1678-1680)Agt>Tgt	p.S560C	PGM2_ENST00000537241.1_Missense_Mutation_p.S400C	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	560					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CATGCGCACCAGTGGGACAGA	0.488000													10	39					0	0	0.008291	0	0
FLNA	2316	broad.mit.edu	37	X	153593005	153593005	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153593005C>A	ENST00000422373.1	-	13	2159	c.1911G>T	c.(1909-1911)ccG>ccT	p.P637P	FLNA_ENST00000344736.4_Silent_p.P637P|FLNA_ENST00000369850.3_Silent_p.P637P|FLNA_ENST00000360319.4_Silent_p.P637P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	637			P -> Q (in CVDX).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCTCCTGCGGCCAGTAGC	0.617000													39	10					2.75727e-19	4.06455e-19	0.004878	1	0
HERC2	8924	broad.mit.edu	37	15	28380792	28380792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28380792C>A	ENST00000261609.7	-	79	12170	c.12062G>T	c.(12061-12063)gGg>gTg	p.G4021V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4021					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGACTCTGTCCCTCCAATGCC	0.448000													64	95					3.30712e-30	5.61182e-30	0.003610	1	0
RIMS1	22999	broad.mit.edu	37	6	72806748	72806748	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:72806748G>T	ENST00000264839.7	+	3	342	c.342G>T	c.(340-342)ccG>ccT	p.P114P	RIMS1_ENST00000518273.1_Silent_p.P114P|RIMS1_ENST00000348717.5_Silent_p.P114P|RIMS1_ENST00000517960.1_Silent_p.P114P|RIMS1_ENST00000491071.2_Silent_p.P114P|RIMS1_ENST00000520567.1_Silent_p.P114P|RIMS1_ENST00000522291.1_Silent_p.P114P|RIMS1_ENST00000521978.1_Silent_p.P114P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	114	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACGATGCTCCGACTTGTGGAA	0.502000													25	10					5.35356e-11	6.66228e-11	0.002780	1	0
MDN1	23195	broad.mit.edu	37	6	90460092	90460092	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:90460092C>T	ENST00000369393.3	-	24	3502	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	MDN1_ENST00000428876.1_Silent_p.G1129G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1129					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGACAAGCTTCCCTGAGGAGT	0.423000													93	16					0	0	0.003610	0	0
UTP3	57050	broad.mit.edu	37	4	71555428	71555428	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71555428A>T	ENST00000254803.2	+	1	1233	c.1034A>T	c.(1033-1035)aAg>aTg	p.K345M		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	345					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAATCCACCAAGCCCAAACCA	0.403000													39	51					0	0	0.004878	0	0
MUC7	4589	broad.mit.edu	37	4	71347452	71347452	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71347452C>A	ENST00000413702.1	+	4	1279	c.991C>A	c.(991-993)Cac>Aac	p.H331N	MUC7_ENST00000456088.1_Missense_Mutation_p.H331N|MUC7_ENST00000304887.5_Missense_Mutation_p.H331N	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	331	Thr-rich.					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)			TGCACCCACACACCAGACTAC	0.438000													47	71					3.94638e-17	5.58289e-17	0.003610	1	0
TFAP2D	83741	broad.mit.edu	37	6	50712878	50712878	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:50712878C>A	ENST00000008391.3	+	6	1170	c.942C>A	c.(940-942)gcC>gcA	p.A314A	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	314	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGTTTCCAGCCAAAGCAGTAG	0.458000													27	21					6.32553e-13	8.15595e-13	0.004656	1	0
HERPUD1	9709	broad.mit.edu	37	16	56976133	56976133	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:56976133C>T	ENST00000439977.2	+	7	1192	c.995C>T	c.(994-996)cCc>cTc	p.P332L	HERPUD1_ENST00000379792.2_Missense_Mutation_p.P307L|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P331L|HERPUD1_ENST00000344114.4_Missense_Mutation_p.P173L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	332						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATCAGGACCCCAACAATAAC	0.512000			T	ERG	prostate								29	19					0	0	0.007291	0	0
NLRP7	199713	broad.mit.edu	37	19	55451566	55451566	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55451566C>A	ENST00000588756.1	-	6	1107	c.621G>T	c.(619-621)gcG>gcT	p.A207A	NLRP7_ENST00000340844.2_Silent_p.A207A|NLRP7_ENST00000592784.1_Silent_p.A207A|NLRP7_ENST00000590030.1_Silent_p.A207A|NLRP7_ENST00000448121.2_Silent_p.A207A|NLRP7_ENST00000328092.5_Silent_p.A207A|NLRP7_ENST00000446217.1_Silent_p.A235A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	207	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAGGTAGAACGCGTATCTGA	0.582000													38	30					3.33393e-15	4.53055e-15	0.004878	1	0
ZNF282	8427	broad.mit.edu	37	7	148895563	148895563	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:148895563G>A	ENST00000262085.3	+	2	409	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	ZNF282_ENST00000479907.1_Missense_Mutation_p.V102M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	102					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGGACTGTGGTGGCTGCCAT	0.617000													41	5					0	0	0.007835	0	0
C1orf173	127254	broad.mit.edu	37	1	75114965	75114965	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:75114965G>T	ENST00000326665.5	-	2	276	c.58C>A	c.(58-60)Cac>Aac	p.H20N		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	20										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						CCAGCCAGGTGTTTATCCATA	0.348000													47	43					6.3008e-33	1.09084e-32	0.003610	1	0
HRNR	388697	broad.mit.edu	37	1	152191134	152191134	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152191134G>C	ENST00000368801.2	-	3	3046	c.2971C>G	c.(2971-2973)Cgt>Ggt	p.R991G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	991					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGACTGACGGGAGCCAGAC	0.582000													111	153					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166894413	166894413	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:166894413G>T	ENST00000423058.2	-	15	2836	c.2819C>A	c.(2818-2820)tCc>tAc	p.S940Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S940Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S929Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.S912Y|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	940						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)	AATCAGGAAGGAGTGGAAGAA	0.507000													37	107					1.30998e-17	1.86937e-17	0.005524	1	0
RBP3	5949	broad.mit.edu	37	10	48382182	48382182	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48382182T>C	ENST00000224600.4	-	4	3580	c.3467A>G	c.(3466-3468)tAt>tGt	p.Y1156C		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1156	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTCATGATATAGGTGAACTC	0.592000													17	50					0	0	0.002299	0	0
TOMM22	56993	broad.mit.edu	37	22	39079772	39079772	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:39079772A>G	ENST00000216034.4	+	4	386	c.354_splice	c.e4-1	p.I119_splice		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	119					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					TCTTTTCCAGATACTTCTAGG	0.463000													25	36					0	0	0.004656	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611740	84611740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:84611740C>A	ENST00000286744.5	+	19	2620	c.2396C>A	c.(2395-2397)tCa>tAa	p.S799*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.S799*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	799	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGAATCTCTCAGATGAATTG	0.522000													15	13					1.3612e-06	1.52495e-06	0.003163	1	0
GFOD2	81577	broad.mit.edu	37	16	67709089	67709089	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:67709089A>G	ENST00000268797.7	-	3	1472	c.1127T>C	c.(1126-1128)cTg>cCg	p.L376P	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	376						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGCCTCACACAGGTTCTGGTT	0.622000													43	28					0	0	0.002852	0	0
C1orf105	92346	broad.mit.edu	37	1	172431345	172431345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:172431345G>T	ENST00000367727.4	+	5	499	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.D91Y	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	101										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GAAAATCCCAGATGATCCAAA	0.333000													5	6					0.000602214	0.000631121	0.000602	1	0
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:43484767G>A	ENST00000395891.1	+	11	2601	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R	HECW1_ENST00000453890.1_Missense_Mutation_p.G666R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	666					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCAAGGCGGGGACCACAG	0.692000													29	17					0	0	0.008361	0	0
TRIP12	9320	broad.mit.edu	37	2	230744732	230744732	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:230744732C>A	ENST00000283943.5	-	2	242	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	TRIP12_ENST00000389045.3_Missense_Mutation_p.G22W|TRIP12_ENST00000409677.1_Missense_Mutation_p.G22W|TRIP12_ENST00000543084.1_Missense_Mutation_p.G22W|TRIP12_ENST00000389044.4_Missense_Mutation_p.G22W	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	22					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTTGGGCCCCGGCAGTGTTC	0.448000													9	89					6.40141e-05	6.88493e-05	0.000978	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168997	32168997	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32168997G>T	ENST00000375023.3	-	22	4174	c.4036C>A	c.(4036-4038)Cgg>Agg	p.R1346R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1346			R -> P (in dbSNP:rs8192573).		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						TCTTCAGCCCGGGCCCCAGGA	0.622000													44	55					9.9998e-32	1.71462e-31	0.002852	1	0
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													5	96					0	0	0.001984	0	0
SLFN13	146857	broad.mit.edu	37	17	33771790	33771790	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33771790C>A	ENST00000285013.6	-	3	1185	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	SLFN13_ENST00000526861.1_Missense_Mutation_p.G304W|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.G304W|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.G304W	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	304						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACTCTTTCCCACAAAACACT	0.418000													53	54					1.86277e-20	2.80701e-20	0.003610	1	0
KCNC2	3747	broad.mit.edu	37	12	75444566	75444566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:75444566C>A	ENST00000549446.1	-	3	1899	c.1219G>T	c.(1219-1221)Gga>Tga	p.G407*	KCNC2_ENST00000393288.2_Nonsense_Mutation_p.G407*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.G407*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.G407*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.G407*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	407					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTTGAGCTCCCACTCTCTCG	0.448000													27	6					6.04164e-23	9.44457e-23	0.002096	1	0
KCNA4	3739	broad.mit.edu	37	11	30033117	30033117	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:30033117G>T	ENST00000328224.6	-	2	2342	c.1109C>A	c.(1108-1110)cCc>cAc	p.P370H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	370						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GATGAAGAAGGGGTCATTGAA	0.478000													36	3					2.48696e-23	3.90325e-23	0.003271	1	0
OR5R1	219479	broad.mit.edu	37	11	56185700	56185700	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56185700T>A	ENST00000312253.1	-	1	8	c.9A>T	c.(7-9)gaA>gaT	p.E3D		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGATATTAACTTCAGCCATTT	0.388000													29	66					0	0	0.008361	0	0
C7	730	broad.mit.edu	37	5	40964925	40964925	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40964925C>G	ENST00000313164.9	+	14	2191	c.1832C>G	c.(1831-1833)gCc>gGc	p.A611G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	611	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AACCCAGTGGCCAGATGTGGA	0.398000													88	166					0	0	0.003610	0	0
LGSN	51557	broad.mit.edu	37	6	63990034	63990034	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:63990034C>A	ENST00000370657.4	-	4	1455	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	474					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCCTAGAGCCTGTCTCAGGC	0.393000													19	42					2.94398e-08	3.44546e-08	0.007413	1	0
GMPR2	51292	broad.mit.edu	37	14	24707648	24707648	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24707648G>C	ENST00000557854.1	+	8	1225	c.948G>C	c.(946-948)tgG>tgC	p.W316C	GMPR2_ENST00000355299.4_Intron|GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000348719.7_Missense_Mutation_p.W298C|GMPR2_ENST00000399440.2_Intron|GMPR2_ENST00000559836.1_Intron|GMPR2_ENST00000420554.2_Intron			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	0					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TAATAGTATGGAGGCAGAACT	0.522000													91	10					0	0	0.003610	0	0
ADRA1B	147	broad.mit.edu	37	5	159344455	159344455	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:159344455C>A	ENST00000306675.3	+	1	666	c.543C>A	c.(541-543)ctC>ctA	p.L181L		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	181					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TCGGGCCTCTCCTTGGGTGGA	0.602000													29	6					7.38237e-10	8.93799e-10	0.006320	1	0
GUCY2D	3000	broad.mit.edu	37	17	7910409	7910409	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7910409C>T	ENST00000254854.4	+	5	1560	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	470					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			skin(1)	1		Prostate(122;0.157)				TTCTTGGCTTCCTCCTGGTGG	0.572000													28	62					0	0	0.008361	0	0
ITIH5	80760	broad.mit.edu	37	10	7608211	7608211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7608211C>A	ENST00000256861.6	-	13	2387	c.2309G>T	c.(2308-2310)aGa>aTa	p.R770I	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.R556I|ITIH5_ENST00000446830.2_Missense_Mutation_p.R552I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	770					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						GAGCACCAGTCTGTCCCCACC	0.582000													17	2					0.00400662	0.00412848	0.004007	1	0
DOCK2	1794	broad.mit.edu	37	5	169145713	169145713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:169145713C>T	ENST00000256935.8	+	22	2265	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Q221*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	729					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)			CAGAGGGGAGCAATGTGAGCC	0.388000													34	5					0	0	0.002445	0	0
LIPF	8513	broad.mit.edu	37	10	90429683	90429683	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:90429683A>T	ENST00000394375.3	+	6	655	c.542A>T	c.(541-543)cAt>cTt	p.H181L	LIPF_ENST00000355843.2_Missense_Mutation_p.H138L|LIPF_ENST00000238983.4_Missense_Mutation_p.H171L	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	171					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TATGTTGGCCATTCCCAGGGC	0.438000													130	33					0	0	0.003610	0	0
ATAD3B	83858	broad.mit.edu	37	1	1412682	1412682	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1412682G>T	ENST00000308647.7	+	2	350	c.234G>T	c.(232-234)gcG>gcT	p.A78A	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	78							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGAATCTGGCGCAGATGCAGG	0.622000													75	22					4.59617e-45	8.40919e-45	0.003610	1	0
FLG	2312	broad.mit.edu	37	1	152277418	152277418	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152277418T>G	ENST00000368799.1	-	3	9979	c.9944A>C	c.(9943-9945)cAc>cCc	p.H3315P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3315	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGCCTGAGTGTCTGGAGCT	0.557000									Ichthyosis				197	364					0	0	0.003610	0	0
CDAN1	146059	broad.mit.edu	37	15	43017718	43017718	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43017718A>G	ENST00000356231.3	-	26	3442	c.3419T>C	c.(3418-3420)gTg>gCg	p.V1140A		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1140						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGAAGCCCCACATTTCTTGG	0.572000													61	9					0	0	0.003610	0	0
ITIH5	80760	broad.mit.edu	37	10	7611676	7611676	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7611676G>T	ENST00000256861.6	-	12	2182	c.2104C>A	c.(2104-2106)Cag>Aag	p.Q702K	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.Q488K|ITIH5_ENST00000446830.2_Missense_Mutation_p.Q484K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	702					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						TCCCCGGGCTGCCCATCAATG	0.547000													25	4					4.26978e-12	5.41997e-12	0.003330	1	0
FAM135A	57579	broad.mit.edu	37	6	71235546	71235546	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:71235546C>G	ENST00000418814.2	+	15	3373	c.2759C>G	c.(2758-2760)cCt>cGt	p.P920R	FAM135A_ENST00000505868.1_Missense_Mutation_p.P920R|FAM135A_ENST00000457062.2_Missense_Mutation_p.P707R|FAM135A_ENST00000370479.3_Missense_Mutation_p.P707R|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.P724R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	920										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTAAAGACCCTTTACAATTT	0.368000													15	37					0	0	0.003163	0	0
FOXG1	2290	broad.mit.edu	37	14	29237796	29237796	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:29237796G>T	ENST00000382535.3	+	2	1680	c.1311G>T	c.(1309-1311)agG>agT	p.R437S	FOXG1_ENST00000313071.4_Missense_Mutation_p.R437S			P55316	FOXG1_HUMAN	forkhead box G1	437					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGAGCGCCAGGGCCGCGTCCT	0.637000													31	6					6.97489e-18	1.00188e-17	0.004878	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51770667	51770667	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51770667G>A	ENST00000316401.7	+	5	832	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.A57T|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		GAAAGCTGCAGCGATCAGAGC	0.473000													37	92					0	0	0.003271	0	0
TPST2	8459	broad.mit.edu	37	22	26936942	26936942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26936942C>A	ENST00000338754.4	-	3	925	c.655G>T	c.(655-657)Gag>Tag	p.E219*	TPST2_ENST00000403880.1_Nonsense_Mutation_p.E219*|TPST2_ENST00000398110.2_Nonsense_Mutation_p.E219*	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	219					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TACATCACCTCGATGGCCTTG	0.597000													19	62					1.01871e-10	1.26056e-10	0.008871	1	0
SLC38A5	92745	broad.mit.edu	37	X	48320401	48320401	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48320401C>A	ENST00000376876.3	-	10	1606	c.763G>T	c.(763-765)Gac>Tac	p.D255Y	SLC38A5_ENST00000317669.5_Missense_Mutation_p.D255Y|SLC38A5_ENST00000376875.1_Missense_Mutation_p.D204Y			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	255					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTGTGAGTCAACTGTGAAC	0.527000													8	2					5.18039e-06	5.70598e-06	0.003080	1	0
UBR3	130507	broad.mit.edu	37	2	170917604	170917604	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:170917604G>C	ENST00000272793.5	+	34	4851	c.4801G>C	c.(4801-4803)Gaa>Caa	p.E1601Q	UBR3_ENST00000392631.1_Missense_Mutation_p.E422Q|UBR3_ENST00000418381.1_Missense_Mutation_p.E1601Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1601					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATGTGATGCAGAAAAGTCTTA	0.289000													9	21					0	0	0.004482	0	0
OR52K2	119774	broad.mit.edu	37	11	4470577	4470577	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4470577C>T	ENST00000325719.4	+	1	53	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATGTCAGCCTCCAATATC	0.473000													34	7					0	0	0.003271	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880959	70880959	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:70880959G>T	ENST00000333538.5	+	4	1308	c.674G>T	c.(673-675)gGc>gTc	p.G225V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	225	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGAGGGAAGGCCTGATCCGC	0.562000													11	8					0.00829132	0.00849449	0.008291	1	0
OR11H12	440153	broad.mit.edu	37	14	19378079	19378079	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:19378079G>T	ENST00000550708.1	+	1	558	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTCATACTGTGCTGGGTTT	0.473000													65	315					1.37693e-34	2.40718e-34	0.003610	1	0
DNAH3	55567	broad.mit.edu	37	16	21133343	21133343	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:21133343G>A	ENST00000261383.3	-	10	1506	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	DNAH3_ENST00000415178.1_Missense_Mutation_p.P503S|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	503	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAAAGATGGATTGAAGACA	0.378000													21	17					0	0	0.010504	0	0
PDS5B	23047	broad.mit.edu	37	13	33344486	33344486	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:33344486G>T	ENST00000315596.10	+	32	4038	c.3852G>T	c.(3850-3852)ccG>ccT	p.P1284P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1284					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAATAGTCCGCCAAAAAAGG	0.408000													12	2					1.08611e-07	1.25541e-07	0.000978	1	0
RFWD3	55159	broad.mit.edu	37	16	74662385	74662385	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:74662385T>A	ENST00000361070.4	-	11	2031	c.1934A>T	c.(1933-1935)aAc>aTc	p.N645I	RFWD3_ENST00000571750.1_Missense_Mutation_p.N645I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	645					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCGGGAGCTGTTCTCTGTCTG	0.522000													40	16					0	0	0.004878	0	0
AHCYL2	23382	broad.mit.edu	37	7	129062682	129062682	+	Splice_Site	SNP	C	C	A	rs148610666		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:129062682C>A	ENST00000325006.3	+	13	1517	c.1461_splice	c.e13-1	p.A488_splice	AHCYL2_ENST00000531335.2_Splice_Site_p.A407_splice|AHCYL2_ENST00000490911.1_Splice_Site_p.A385_splice|AHCYL2_ENST00000446544.2_Splice_Site_p.A487_splice|AHCYL2_ENST00000474594.1_Splice_Site_p.A385_splice|AHCYL2_ENST00000446212.1_Splice_Site_p.A386_splice	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	488					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTGTTCCAGGCGAGTCTGCGG	0.502000													20	58					4.96729e-08	5.779e-08	0.008871	1	0
ARFIP1	27236	broad.mit.edu	37	4	153803926	153803926	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:153803926G>C	ENST00000451320.2	+	7	849	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	ARFIP1_ENST00000356064.3_Missense_Mutation_p.E197Q|ARFIP1_ENST00000353617.2_Missense_Mutation_p.E229Q|ARFIP1_ENST00000429148.2_Missense_Mutation_p.E49Q|ARFIP1_ENST00000405727.2_Missense_Mutation_p.E197Q			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	229	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TAAAAATGGAGAGACTCTTCT	0.338000													8	20					0	0	0.003080	0	0
ENAM	10117	broad.mit.edu	37	4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438000													41	79					7.63091e-17	1.068e-16	0.007835	1	0
MAVS	57506	broad.mit.edu	37	20	3842153	3842153	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3842153T>C	ENST00000428216.2	+	4	593		c.e4+2		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGGAGAGGTCTGTCCTCAT	0.572000													32	20					0	0	0.002096	0	0
ZNF256	10172	broad.mit.edu	37	19	58453766	58453766	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:58453766T>A	ENST00000282308.3	-	3	606	c.410A>T	c.(409-411)cAg>cTg	p.Q137L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	137					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ATGCTGCTTCTGGTGCTGATG	0.458000													64	65					0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706660	26706660	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26706660C>T	ENST00000529632.2	+	7	1735	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	SEZ6L_ENST00000404234.3_Silent_p.T513T|SEZ6L_ENST00000343706.4_Silent_p.T513T|SEZ6L_ENST00000402979.1_Silent_p.T286T|SEZ6L_ENST00000248933.6_Silent_p.T513T|SEZ6L_ENST00000403121.1_Silent_p.T286T|SEZ6L_ENST00000360929.3_Silent_p.T513T	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	513	CUB 2.					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						GCGGGCAGACCAACAAGTCAG	0.572000													133	9					0	0	0.003610	0	0
ADCY3	109	broad.mit.edu	37	2	25064493	25064493	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:25064493C>A	ENST00000260600.5	-	4	1851	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S	ADCY3_ENST00000405392.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	334					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCACTGCAGGCAGAAGACAGC	0.622000													6	30					8.12818e-05	8.68982e-05	0.001984	1	0
SRMS	6725	broad.mit.edu	37	20	62172823	62172823	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62172823A>G	ENST00000217188.1	-	6	1137	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	366	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAAGTCAGCCACCTTGCAGGC	0.706000													18	27					0	0	0.006122	0	0
KCNU1	157855	broad.mit.edu	37	8	36664969	36664969	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:36664969G>T	ENST00000399881.3	+	6	693		c.e6+1			NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAGACCAGGTAAATAGCCC	0.393000													72	60					7.07328e-35	1.24098e-34	0.003610	1	0
LTBP1	4052	broad.mit.edu	37	2	33246008	33246008	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:33246008A>T	ENST00000404816.2	+	3	951	c.598A>T	c.(598-600)Atg>Ttg	p.M200L	LTBP1_ENST00000354476.3_Missense_Mutation_p.M200L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	200	EGF-like 1.				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)				GAATGGAGGGATGTGTCTCCG	0.493000													76	206					0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33145200	33145200	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:33145200G>T	ENST00000341947.2	-	23	2187	c.1960C>A	c.(1960-1962)Cct>Act	p.P654T	COL11A2_ENST00000374713.1_Missense_Mutation_p.P607T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P594T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P633T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P573T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P628T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P568T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P547T|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	654	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGGTCCCAGGGGTGCCCTGT	0.557000													15	36					1.67942e-08	1.97608e-08	0.006122	1	0
NRXN1	9378	broad.mit.edu	37	2	50318602	50318602	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50318602C>A	ENST00000404971.1	-	20	5036	c.3697G>T	c.(3697-3699)Gtt>Ttt	p.V1233F	NRXN1_ENST00000342183.5_Missense_Mutation_p.V158F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1185F|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1193F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1185F|NRXN1_ENST00000401710.1_Missense_Mutation_p.V211F|NRXN1_ENST00000406859.3_Missense_Mutation_p.V1193F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V1193F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1193	Laminin G-like 6.				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)			TCTGTCCCAACATTAAACTTA	0.388000													25	62					7.92952e-12	1.00332e-11	0.003954	1	0
MLIP	90523	broad.mit.edu	37	6	53989559	53989559	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:53989559C>A	ENST00000514921.1	+	3	621	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	MLIP_ENST00000370877.2_Missense_Mutation_p.L118M|MLIP_ENST00000274897.5_Missense_Mutation_p.L170M|MLIP_ENST00000358276.5_Missense_Mutation_p.L164M|MLIP_ENST00000509997.1_Missense_Mutation_p.L118M|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.L108M|MLIP_ENST00000502396.1_Missense_Mutation_p.L181M			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	170						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTCGTCCAGTCTGGTCTCTGA	0.552000													18	49					3.52763e-06	3.90524e-06	0.004990	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259821	90259821	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:90259821G>T	ENST00000471857.1	+	0	229																											TGCTGCTCTGGCTCCCAGGTA	0.512000													46	86					9.52127e-25	1.52979e-24	0.003610	1	0
OR4L1	122742	broad.mit.edu	37	14	20528666	20528666	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20528666C>A	ENST00000315683.1	+	1	463	c.463C>A	c.(463-465)Cac>Aac	p.H155N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGTTTTTTACACTCCATAAG	0.403000													81	13					7.31121e-38	1.29896e-37	0.003610	1	0
SND1	27044	broad.mit.edu	37	7	127729610	127729610	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:127729610G>T	ENST00000354725.3	+	22	2682	c.2488G>T	c.(2488-2490)Gtg>Ttg	p.V830L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	830					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGCTCAACGTGGAACACCT	0.597000													19	81					1.56452e-12	2.00803e-12	0.007413	1	0
CACNA1E	777	broad.mit.edu	37	1	181700366	181700366	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:181700366C>G	ENST00000357570.5	+	19	2461	c.2150_splice	c.e19+1	p.L717_splice	CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000367573.2_Splice_Site_p.L766_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.L766_splice|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Splice_Site_p.L373_splice			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	766	Poly-Glu.				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						CAGCAGCCACCTGTATGTGTG	0.522000													9	10					0	0	0.001368	0	0
NRXN3	9369	broad.mit.edu	37	14	79454368	79454368	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:79454368C>A	ENST00000554719.1	+	12	2518	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	NRXN3_ENST00000335750.5_Missense_Mutation_p.P676H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTACTAGGACCCAGTACCACC	0.428000													21	20					3.62473e-10	4.43223e-10	0.001882	1	0
MN1	4330	broad.mit.edu	37	22	28193258	28193258	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:28193258C>A	ENST00000302326.4	-	1	4228	c.3274G>T	c.(3274-3276)Ggg>Tgg	p.G1092W		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1092							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCGTGTTCCCCGGCGCCTACC	0.697000			T	ETV6	"""AML, meningioma"""								27	1					3.6726e-16	5.08216e-16	0.003954	1	0
KDM4C	23081	broad.mit.edu	37	9	7011843	7011843	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:7011843C>T	ENST00000381309.3	+	13	2497	c.1932C>T	c.(1930-1932)caC>caT	p.H644H	KDM4C_ENST00000536108.1_Silent_p.H463H|KDM4C_ENST00000442236.2_Silent_p.H389H|KDM4C_ENST00000428870.2_Silent_p.H331H|KDM4C_ENST00000535193.1_Silent_p.H666H|KDM4C_ENST00000381306.3_Silent_p.H644H|KDM4C_ENST00000543771.1_Silent_p.H644H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	644					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGAAGCCACACTGTGCCATCT	0.517000													36	6					0	0	0.005524	0	0
HTT	3064	broad.mit.edu	37	4	3129315	3129315	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:3129315C>T	ENST00000355072.5	+	12	1872	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	576					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTACCCCTTCAGACAGTTCT	0.532000													8	68					0	0	0.003080	0	0
BAI1	575	broad.mit.edu	37	8	143558878	143558878	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:143558878A>T	ENST00000517894.1	+	6	2249	c.1355A>T	c.(1354-1356)cAa>cTa	p.Q452L	BAI1_ENST00000323289.5_Missense_Mutation_p.Q452L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	452	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGAGAAGCAAACCAAGTTC	0.652000													25	31					0	0	0.003954	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21051426	21051426	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:21051426G>A	ENST00000381545.3	+	14	1958	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R580K|LST3_ENST00000540229.1_Missense_Mutation_p.R580K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R580K	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	580					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.R580K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATGGTTATAAGAACACTAGGT	0.259000													14	20					0	0	0.004007	0	0
RHOH	399	broad.mit.edu	37	4	40245027	40245027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:40245027C>A	ENST00000381799.4	+	3	745	c.21C>A	c.(19-21)tgC>tgA	p.C7*	RHOH_ENST00000505618.1_Nonsense_Mutation_p.C7*	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	7					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCAAGTGCGTGTTGGTGG	0.577000													30	30					2.70662e-09	3.24102e-09	0.009535	1	0
HMCN1	83872	broad.mit.edu	37	1	186143709	186143709	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186143709G>T	ENST00000271588.4	+	103	16107	c.15878G>T	c.(15877-15879)aGa>aTa	p.R5293I	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5293I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5293	EGF-like 5; calcium-binding (Potential).				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						GAGAATACAAGAGGCAGCTAT	0.418000													34	23					5.8336e-16	8.04423e-16	0.003271	1	0
SYTL2	54843	broad.mit.edu	37	11	85438967	85438967	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:85438967T>A	ENST00000359152.5	-	1	104	c.105A>T	c.(103-105)ccA>ccT	p.P35P	SYTL2_ENST00000527523.1_Silent_p.P429P|SYTL2_ENST00000524452.1_Silent_p.P477P|SYTL2_ENST00000528231.1_Silent_p.P477P|SYTL2_ENST00000389960.4_Silent_p.P477P|SYTL2_ENST00000316356.4_Silent_p.P478P|SYTL2_ENST00000525423.1_5'UTR	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	477	RabBD.				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)		AACTGCCACCTGGCACCTGAG	0.448000													10	26					0	0	0.008291	0	0
ZNF343	79175	broad.mit.edu	37	20	2473448	2473448	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2473448C>A	ENST00000278772.4	-	5	688	c.201G>T	c.(199-201)gtG>gtT	p.V67V	RP4-734P14.4_ENST00000461548.1_Silent_p.V67V|ZNF343_ENST00000381253.1_Silent_p.V67V|ZNF343_ENST00000358413.2_Silent_p.V67V	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	67	KRAB.				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						AGATCACAGTCACATCCCTGA	0.438000													90	43					1.31969e-37	2.3362e-37	0.003610	1	0
ADGRG1	9289	broad.mit.edu	37	16	57689409	57689409	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:57689409C>T	ENST00000562631.1	+	6	1399	c.867C>T	c.(865-867)ctC>ctT	p.L289L	GPR56_ENST00000456916.1_Silent_p.L289L|GPR56_ENST00000388813.5_Silent_p.L289L|GPR56_ENST00000562558.1_Silent_p.L289L|GPR56_ENST00000568908.1_Silent_p.L289L|GPR56_ENST00000568909.1_Silent_p.L289L|GPR56_ENST00000379694.4_Silent_p.L119L|GPR56_ENST00000567835.1_Silent_p.L289L|GPR56_ENST00000379696.3_Silent_p.L289L|GPR56_ENST00000540164.2_Silent_p.L289L|GPR56_ENST00000544297.1_Silent_p.L114L|GPR56_ENST00000538815.1_Silent_p.L289L|GPR56_ENST00000388812.4_Silent_p.L289L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	289					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGAGACTCCTCCTGGTGGACT	0.572000													16	7					0	0	0.007413	0	0
RNF43	54894	broad.mit.edu	37	17	56435163	56435163	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:56435163C>A	ENST00000584437.1	-	8	3929	c.1974G>T	c.(1972-1974)ggG>ggT	p.G658G	RNF43_ENST00000577625.1_Silent_p.G531G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.G658G|RNF43_ENST00000581868.1_Silent_p.G531G|RNF43_ENST00000583753.1_Silent_p.G617G|RNF43_ENST00000500597.2_Silent_p.G617G|RNF43_ENST00000407977.2_Silent_p.G658G			Q68DV7	RNF43_HUMAN	ring finger protein 43	658	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGAGGGACCCCCCCGCCTTT	0.602000													90	29					1.80868e-48	3.34342e-48	0.003610	1	0
TRBV4-1	28617	broad.mit.edu	37	7	142013012	142013012	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142013012C>A	ENST00000390357.3	+	0	6																											CAGTCAGAGGCCCCATCTCAG	0.572000													27	5					7.38237e-10	8.93799e-10	0.006320	1	0
KRT18P55	284085	broad.mit.edu	37	17	26603976	26603976	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:26603976T>C	ENST00000577198.1	-	0	985					NR_028334.1																						TTCTCGATGGTCTTGAAGTCA	0.522000													58	34					0	0	0.003610	0	0
OR8D4	338662	broad.mit.edu	37	11	123777827	123777827	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:123777827C>T	ENST00000321355.2	+	1	719	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CGCATCCACTCTAAAAAGGGC	0.433000													67	53					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923752	24923752	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923752C>G	ENST00000329468.2	+	1	3212	c.2738C>G	c.(2737-2739)tCt>tGt	p.S913C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTGACAGTTCTTTTATTCTG	0.488000													84	73					0	0	0.003610	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381686	162381686	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:162381686A>G	ENST00000367929.2	-	1	230	c.121T>C	c.(121-123)Tgc>Cgc	p.C41R	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.C41R	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	41	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACACAGAGGCACAGGACTCCT	0.502000													15	41					0	0	0.004007	0	0
HECTD1	25831	broad.mit.edu	37	14	31583534	31583534	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31583534T>A	ENST00000399332.1	-	31	6119	c.5631A>T	c.(5629-5631)agA>agT	p.R1877S	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1877S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1877					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTCATTTCTCTGTACATGA	0.249000													6	6					0	0	0.001984	0	0
PREX2	80243	broad.mit.edu	37	8	69021769	69021769	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:69021769C>G	ENST00000288368.4	+	25	3334	c.3057C>G	c.(3055-3057)gaC>gaG	p.D1019E		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	1019					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						AAGAAGAAGACTTAGAAACCC	0.463000													24	89					0	0	0.003330	0	0
FNBP4	23360	broad.mit.edu	37	11	47772725	47772725	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47772725T>G	ENST00000263773.5	-	5	767	c.755A>C	c.(754-756)cAg>cCg	p.Q252P	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	252										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCCCTGTACCTGTGTGGCAAG	0.388000													58	11					0	0	0.003610	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204402453	204402453	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:204402453T>C	ENST00000367187.3	-	27	4500	c.3944A>G	c.(3943-3945)tAc>tGc	p.Y1315C	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y1287C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1315	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTAGTGAAGTAGGTAGTGGC	0.537000													34	23					0	0	0.002836	0	0
ZNF831	128611	broad.mit.edu	37	20	57828094	57828094	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:57828094G>A	ENST00000371030.2	+	4	4089	c.4089G>A	c.(4087-4089)aaG>aaA	p.K1363K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1363						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)					GTTGTGGGAAGGAAGAGAAGA	0.468000													76	11					0	0	0.003610	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73071371	73071371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:73071371G>T	ENST00000263674.3	+	11	4563	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1405					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGAGCCTGGACGATGCACT	0.637000													30	100					5.97227e-30	1.01168e-29	0.002096	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768195	77768195	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:77768195G>T	ENST00000521891.2	+	10	9486	c.9038G>T	c.(9037-9039)gGg>gTg	p.G3013V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2968V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2968V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2987V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2968						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCTCTGCGGGGTGAAGTAC	0.483000										HNSCC(33;0.089)			17	15					1.45105e-14	1.92657e-14	0.006122	1	0
PARK2	5071	broad.mit.edu	37	6	161970005	161970005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:161970005C>A	ENST00000366898.1	-	9	1066	c.964G>T	c.(964-966)Gag>Tag	p.E322*	PARK2_ENST00000366896.1_Nonsense_Mutation_p.E173*|PARK2_ENST00000366897.1_Nonsense_Mutation_p.E294*|PARK2_ENST00000366894.1_Nonsense_Mutation_p.E131*|PARK2_ENST00000366892.1_Nonsense_Mutation_p.E322*|PARK2_ENST00000338468.3_Nonsense_Mutation_p.E131*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	322					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGGACACACTCCTCTGCACCA	0.572000													14	37					9.05144e-12	1.14454e-11	0.001855	1	0
HMCN1	83872	broad.mit.edu	37	1	185939626	185939626	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:185939626G>T	ENST00000271588.4	+	15	2600		c.e15+1		HMCN1_ENST00000367492.2_Splice_Site|HMCN1_ENST00000485744.1_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						GATGTTGGCTGTAAGCCTCCA	0.368000													91	59					1.13884e-41	2.06061e-41	0.003610	1	0
NRSN1	140767	broad.mit.edu	37	6	24134624	24134624	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:24134624C>A	ENST00000378491.4	+	3	370	c.69C>A	c.(67-69)cgC>cgA	p.R23R	NRSN1_ENST00000378475.1_Silent_p.R23R|NRSN1_ENST00000378478.1_Silent_p.R23R	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	23					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTTACCAGCGCTATGGAGTCC	0.522000													11	62					0.000978159	0.00101913	0.000978	1	0
PCDH15	65217	broad.mit.edu	37	10	55570367	55570367	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55570367C>A	ENST00000373965.2	-	35	4846	c.4452G>T	c.(4450-4452)gaG>gaT	p.E1484D	PCDH15_ENST00000395438.1_Missense_Mutation_p.R1501M|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1484D|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1112M|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1481D|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	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)				CACCATATTCCTCCTGTCCAG	0.363000										HNSCC(58;0.16)			81	23					2.78983e-34	4.86426e-34	0.003610	1	0
GJA3	2700	broad.mit.edu	37	13	20716932	20716932	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:20716932C>A	ENST00000241125.3	-	2	672	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	166					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AAGTACTGGCCGGCGATGAAG	0.652000													19	10					1.67942e-08	1.97608e-08	0.006122	1	0
KALRN	8997	broad.mit.edu	37	3	124356145	124356145	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124356145A>C	ENST00000360013.3	+	37	5783	c.5656A>C	c.(5656-5658)Aag>Cag	p.K1886Q	KALRN_ENST00000393496.1_Intron|KALRN_ENST00000291478.4_Missense_Mutation_p.K189Q|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000459915.1_5'UTR	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1885					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						GGTCAAAAACAAGCTGGTAAG	0.522000													60	48					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41446970	41446970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:41446970G>T	ENST00000400454.1	-	27	5359	c.4882C>A	c.(4882-4884)Ctg>Atg	p.L1628M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1628					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)				CTACCTCGCAGCCTCTTTAGC	0.607000													28	4					8.88839e-20	1.32116e-19	0.002096	1	0
PDHA2	5161	broad.mit.edu	37	4	96761908	96761908	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:96761908G>T	ENST00000295266.4	+	1	670	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	203					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGGGCAGATAGCCGAAGCTTT	0.463000													20	28					1.56452e-12	2.00803e-12	0.007413	1	0
OXGR1	27199	broad.mit.edu	37	13	97639386	97639386	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:97639386G>T	ENST00000298440.1	-	4	871	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	OXGR1_ENST00000543457.1_Missense_Mutation_p.P210T	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	210						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ATCACCAAGGGGAGGCAGAAA	0.473000													31	34					1.39806e-14	1.86376e-14	0.008361	1	0
USP25	29761	broad.mit.edu	37	21	17150265	17150265	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:17150265G>A	ENST00000285681.2	+	4	680	c.311G>A	c.(310-312)aGa>aAa	p.R104K	USP25_ENST00000400183.2_Missense_Mutation_p.R104K|USP25_ENST00000351097.5_Missense_Mutation_p.R104K|USP25_ENST00000285679.6_Missense_Mutation_p.R104K|USP25_ENST00000547201.1_3'UTR			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	104					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATCTTCAGAGAGCAATTGCC	0.348000													23	4					0	0	0.009535	0	0
MYT1	4661	broad.mit.edu	37	20	62839650	62839650	+	Silent	SNP	G	G	A	rs148738850		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62839650G>A	ENST00000536311.1	+	7	1465	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	MYT1_ENST00000328439.1_Silent_p.S367S|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	367					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGACGAGTCGGAGATGCAGG	0.612000													47	89					0	0	0.003610	0	0
GJB7	375519	broad.mit.edu	37	6	87993968	87993968	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:87993968G>T	ENST00000525899.1	-	3	1008	c.663C>A	c.(661-663)ctC>ctA	p.L221L	GJB7_ENST00000296882.3_Silent_p.L221L	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	221					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTCACACACTGAGGACTTGAG	0.423000													24	5					3.7963e-18	5.47303e-18	0.003330	1	0
LRRC16A	55604	broad.mit.edu	37	6	25450173	25450173	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:25450173G>T	ENST00000329474.6	+	6	787	c.419G>T	c.(418-420)aGt>aTt	p.S140I	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	140					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CGCCTGGCTAGTCTCCAGGCG	0.493000													29	28					4.39465e-27	7.23239e-27	0.002836	1	0
XIRP2	129446	broad.mit.edu	37	2	168107960	168107960	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168107960G>T	ENST00000409195.1	+	9	10147	c.10058G>T	c.(10057-10059)aGa>aTa	p.R3353I	XIRP2_ENST00000295237.9_Missense_Mutation_p.R3353I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3131I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3178					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						TCAAATAGAAGAGTTTATGCA	0.358000													16	59					2.32078e-09	2.79091e-09	0.003163	1	0
SEPT14	346288	broad.mit.edu	37	7	55902168	55902168	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55902168G>T	ENST00000388975.3	-	6	786	c.670C>A	c.(670-672)Cag>Aag	p.Q224K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	224					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)			GTTGGGAGCTGATATATCTGG	0.368000													23	23					1.28384e-07	1.47788e-07	0.001882	1	0
PAK3	5063	broad.mit.edu	37	X	110463590	110463590	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:110463590C>A	ENST00000519681.1	+	19	2055	c.1613C>A	c.(1612-1614)cCa>cAa	p.P538Q	PAK3_ENST00000518291.1_Missense_Mutation_p.P553Q|PAK3_ENST00000372007.4_Missense_Mutation_p.P517Q|PAK3_ENST00000360648.4_Missense_Mutation_p.P553Q|PAK3_ENST00000417227.1_Missense_Mutation_p.P538Q|PAK3_ENST00000372010.1_Missense_Mutation_p.P532Q|PAK3_ENST00000425146.1_Missense_Mutation_p.P517Q|PAK3_ENST00000262836.4_Missense_Mutation_p.P532Q|PAK3_ENST00000446737.1_Missense_Mutation_p.P517Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	532					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTGCAGCATCCATTTTTAAAA	0.388000										TSP Lung(19;0.15)			6	5					0.00198382	0.00205493	0.001984	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756952	94756952	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94756952G>T	ENST00000554723.1	-	2	517	c.99C>A	c.(97-99)tcC>tcA	p.S33S	SERPINA10_ENST00000393096.1_5'UTR|SERPINA10_ENST00000261994.4_5'UTR|SERPINA10_ENST00000554173.1_5'UTR			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	0					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)		CGGAGGCCAAGGAGTGCCTCC	0.552000													9	17					6.40141e-05	6.88493e-05	0.000978	1	0
FRMPD2	143162	broad.mit.edu	37	10	49431294	49431294	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:49431294C>A	ENST00000374201.3	-	11	1490	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	FRMPD2_ENST00000305531.3_Silent_p.L372L|FRMPD2_ENST00000407470.4_Silent_p.L365L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	396	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTTCACTGTCCAGGAAAAAGA	0.468000													33	32					9.65021e-13	1.24345e-12	0.002096	1	0
LILRA2	11027	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637000													5	101					0	0	0.001984	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971607	79971607	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79971607A>T	ENST00000466387.1	+	7	921	c.197A>T	c.(196-198)cAa>cTa	p.Q66L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q66L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q100L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	66					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						TCTGTAGAGCAAGCCACTCAG	0.458000													7	17					0	0	0.003080	0	0
ACSL1	2180	broad.mit.edu	37	4	185687118	185687118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:185687118C>A	ENST00000515030.1	-	14	1611	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	ACSL1_ENST00000454703.2_Missense_Mutation_p.R258L|ACSL1_ENST00000504342.1_Missense_Mutation_p.R429L|ACSL1_ENST00000513317.1_Missense_Mutation_p.R429L|ACSL1_ENST00000507295.1_Missense_Mutation_p.R395L|ACSL1_ENST00000437665.3_Missense_Mutation_p.R258L|ACSL1_ENST00000281455.2_Missense_Mutation_p.R429L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	429					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCAGCCGGACTCTTCC	0.647000													27	17					1.5548e-18	2.25641e-18	0.005443	1	0
TAF1L	138474	broad.mit.edu	37	9	32633952	32633952	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:32633952G>T	ENST00000242310.4	-	1	1715	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	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	542					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)		TGGAGGGGGAGTTAGAGGTGG	0.488000													62	120					4.09106e-26	6.66579e-26	0.003610	1	0
COL8A1	1295	broad.mit.edu	37	3	99514012	99514012	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:99514012G>A	ENST00000261037.3	+	5	1647	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G423R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	423	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGGCCACAGGGGCCACCAGG	0.607000													17	40					0	0	0.006122	0	0
CD34	947	broad.mit.edu	37	1	208084384	208084384	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:208084384C>T	ENST00000356522.4	-	1	363	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Silent_p.P14P	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	14					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TCCAGCCCCGCGGCATCCTGG	0.711000													7	18					0	0	0.003080	0	0
DENND2A	27147	broad.mit.edu	37	7	140246698	140246698	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:140246698G>T	ENST00000275884.6	-	12	2496	c.2079C>A	c.(2077-2079)gcC>gcA	p.A693A	DENND2A_ENST00000496613.1_Silent_p.A693A|DENND2A_ENST00000492720.1_Silent_p.A693A|DENND2A_ENST00000537639.1_Silent_p.A693A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	693	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTGAACCAGGGCAGGAGAGA	0.527000													31	9					4.65686e-17	6.54559e-17	0.003755	1	0
UBL4B	164153	broad.mit.edu	37	1	110655547	110655547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:110655547G>T	ENST00000334179.3	+	1	486	c.391G>T	c.(391-393)Gag>Tag	p.E131*		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	131						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGAGCACCTGGAGCAGCTGGC	0.612000													6	9					0.00116845	0.0012161	0.001168	1	0
NRXN3	9369	broad.mit.edu	37	14	79432645	79432645	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:79432645C>A	ENST00000554719.1	+	9	2045	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	NRXN3_ENST00000335750.5_Silent_p.T518T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGGCTTACACCTCCATGCACC	0.498000													62	45					1.80625e-27	2.9851e-27	0.003610	1	0
CD1C	911	broad.mit.edu	37	1	158261039	158261039	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158261039C>G	ENST00000368170.3	+	2	456	c.177C>G	c.(175-177)gaC>gaG	p.D59E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	59					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATGGCTGGGACAGTGAATCAG	0.478000													20	37					0	0	0.008871	0	0
PCNXL3	399909	broad.mit.edu	37	11	65391686	65391686	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65391686G>C	ENST00000355703.3	+	14	3104	c.2565G>C	c.(2563-2565)gcG>gcC	p.A855A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	855						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGTGATCGCGTACAGCCGTC	0.637000													6	16					0	0	0.001984	0	0
IQCG	84223	broad.mit.edu	37	3	197618359	197618359	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:197618359C>T	ENST00000265239.6	-	11	1579	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	IQCG_ENST00000455191.1_Silent_p.K385K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	385										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTTTACCTTCTTCTTGCTCC	0.368000													18	25					0	0	0.001882	0	0
LILRB4	11006	broad.mit.edu	37	19	55174470	55174470	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55174470C>A	ENST00000391736.1	+	0	300				LILRB4_ENST00000391734.3_De_novo_Start_InFrame|LILRB4_ENST00000430952.2_De_novo_Start_InFrame|LILRB4_ENST00000270452.2_De_novo_Start_InFrame	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCTGGGGCCCCTGGGAGGAG	0.607000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	64					8.58068e-18	1.23073e-17	0.007291	1	0
ZNF496	84838	broad.mit.edu	37	1	247464180	247464180	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:247464180C>T	ENST00000294753.4	-	9	1869	c.1405G>A	c.(1405-1407)Ggg>Agg	p.G469R	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.G505R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	469					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AAGCTCTTCCCGCAGGCACCA	0.657000													40	4					0	0	0.007835	0	0
TMTC1	83857	broad.mit.edu	37	12	29904703	29904703	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:29904703C>A	ENST00000256062.5	-	5	983	c.510G>T	c.(508-510)cgG>cgT	p.R170R	TMTC1_ENST00000381224.2_Silent_p.R170R|TMTC1_ENST00000552618.1_Silent_p.R278R|TMTC1_ENST00000551659.1_Silent_p.R278R|TMTC1_ENST00000539277.1_Silent_p.R278R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	278						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGTGAGGGAACCGCTGCTGCT	0.647000													12	31					1.5842e-08	1.86964e-08	0.001855	1	0
APOBR	55911	broad.mit.edu	37	16	28507384	28507384	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28507384C>T	ENST00000564831.1	+	2	1055	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	APOBR_ENST00000431282.1_Missense_Mutation_p.S341L|APOBR_ENST00000328423.5_Missense_Mutation_p.S341L	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	341	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGATAGCCTCAGGCGGGGAG	0.721000													10	16					0	0	0.008291	0	0
PNP	4860	broad.mit.edu	37	14	20940629	20940629	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20940629A>T	ENST00000361505.5	+	2	320	c.174A>T	c.(172-174)cgA>cgT	p.R58R		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	ACTTTCCCCGAAGTACAGGTA	0.468000													11	15					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179598577	179598577	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179598577A>G	ENST00000589042.1	-	53	15763	c.15539T>C	c.(15538-15540)cTa>cCa	p.L5180P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3936P|TTN_ENST00000591111.1_Missense_Mutation_p.L4863P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4863	Ig-like 32.						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)			TTGTCCTCCTAGTGCAATCAA	0.418000													21	38					0	0	0.008871	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482211	140482211	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140482211G>A	ENST00000231130.2	+	1	1978	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		660	Cadherin 6.				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)			CACGCTGCATGTGCTCCTGGT	0.711000													109	18					0	0	0.003610	0	0
ZNF648	127665	broad.mit.edu	37	1	182026788	182026788	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:182026788T>C	ENST00000339948.3	-	2	565	c.358A>G	c.(358-360)Agc>Ggc	p.S120G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGAGCTCTGCTTGCTCCCGGG	0.557000													37	42					0	0	0.004878	0	0
SLC45A2	51151	broad.mit.edu	37	5	33963842	33963842	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33963842G>T	ENST00000382102.3	-	3	899	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	SLC45A2_ENST00000342059.3_Missense_Mutation_p.P222Q|SLC45A2_ENST00000296589.4_Missense_Mutation_p.P281Q|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	281					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCCAGCTCTGGATTTACGTA	0.408000													64	303					5.44642e-36	9.57264e-36	0.003610	1	0
PCED1B	91523	broad.mit.edu	37	12	47630123	47630123	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:47630123A>G	ENST00000546455.1	+	4	2008	c.1277A>G	c.(1276-1278)aAt>aGt	p.N426S	PCED1B_ENST00000432328.1_Missense_Mutation_p.N426S					PC-esterase domain containing 1B																		GCCCCAGCCAATCCTGAGCCA	0.552000													8	3					0	0	0.004482	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28214257	28214257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:28214257G>T	ENST00000284984.2	-	3	1584	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	377	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATCACACACAGTTCCAACATC	0.453000													43	6					5.44703e-19	7.98166e-19	0.009718	1	0
DNAH9	1770	broad.mit.edu	37	17	11572494	11572494	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:11572494G>T	ENST00000262442.3	+	16	2913	c.2845G>T	c.(2845-2847)Gtt>Ttt	p.V949F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V949F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	949	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)		CTGTGACATTGTTGAGGGTCT	0.498000													83	25					9.5978e-63	1.82043e-62	0.003610	1	0
TBC1D9	23158	broad.mit.edu	37	4	141600249	141600249	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:141600249G>A	ENST00000442267.2	-	5	772	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	233						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGGAATACAGAGAAGAAATG	0.473000													53	105					0	0	0.003610	0	0
ADORA1	134	broad.mit.edu	37	1	203134963	203134963	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203134963C>A	ENST00000367236.4	+	3	1837	c.916C>A	c.(916-918)Cat>Aat	p.H306N	ADORA1_ENST00000309502.3_Missense_Mutation_p.H306N|ADORA1_ENST00000337894.4_Missense_Mutation_p.H306N|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	306					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TTGGAATGACCATTTCCGCTG	0.572000													21	61					2.89027e-11	3.62205e-11	0.002299	1	0
CCDC172	374355	broad.mit.edu	37	10	118117397	118117397	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118117397G>T	ENST00000333254.3	+	7	851	c.600G>T	c.(598-600)gaG>gaT	p.E200D		NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		AATATCTAGAGGCAGAAAAAA	0.274000													7	6					0.00198382	0.00205493	0.001984	1	0
NME8	51314	broad.mit.edu	37	7	37928015	37928015	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:37928015A>G	ENST00000199447.4	+	15	1756	c.1384A>G	c.(1384-1386)Aca>Gca	p.T462A	NME8_ENST00000440017.1_Missense_Mutation_p.T462A|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	462	NDK 3.				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										ACCTCATGCAACAAGTGAACA	0.318000													9	20					0	0	0.006214	0	0
SDPR	8436	broad.mit.edu	37	2	192701327	192701327	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:192701327C>A	ENST00000304141.4	-	2	929	c.600G>T	c.(598-600)gtG>gtT	p.V200V		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	200						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGAGAGGTCCACGGTGTGCA	0.532000													21	37					1.01871e-10	1.26056e-10	0.008871	1	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849660	98849660	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:98849660C>A	ENST00000554295.1	-	0	1263					NR_033801.1																						AAGTTCTCTGCCTCAAAGAGC	0.458000													25	41					4.4004e-07	4.97514e-07	0.003330	1	0
OR5B21	219968	broad.mit.edu	37	11	58274827	58274827	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58274827G>T	ENST00000360374.2	-	1	751	c.752C>A	c.(751-753)aCa>aAa	p.T251K		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGATGATTGTGCCATAGAA	0.473000													24	60					3.01185e-09	3.60212e-09	0.003954	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100207	69100207	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:69100207G>T	ENST00000332644.5	-	5	604	c.443C>A	c.(442-444)gCa>gAa	p.A148E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	148	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGCAGGAACTGCATTCCAGGA	0.328000													9	26					1.58986e-06	1.77505e-06	0.008291	1	0
DIAPH3	81624	broad.mit.edu	37	13	60590082	60590082	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:60590082C>A	ENST00000400324.4	-	7	956	c.736G>T	c.(736-738)Gtc>Ttc	p.V246F	DIAPH3_ENST00000267215.4_Missense_Mutation_p.V246F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V176F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V246F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V235F|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V200F|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	246	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CACTGTATGACTTTATGTTGA	0.313000													9	2					1.08611e-07	1.25541e-07	0.000978	1	0
SP1	6667	broad.mit.edu	37	12	53777109	53777109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:53777109G>T	ENST00000426431.2	+	3	1417	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	SP1_ENST00000327443.4_Nonsense_Mutation_p.G460*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	460	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGGCCCAATGGACAGGTCAG	0.542000													26	64					7.26314e-15	9.74868e-15	0.007291	1	0
BAZ2B	29994	broad.mit.edu	37	2	160294873	160294873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:160294873C>A	ENST00000392783.2	-	8	1729	c.1234G>T	c.(1234-1236)Ggg>Tgg	p.G412W	BAZ2B_ENST00000343439.5_Missense_Mutation_p.G410W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G412W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G410W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTTATTCCCTGCTTTAAGA	0.338000													19	25					1.33834e-09	1.61142e-09	0.007413	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303310	151303310	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:151303310G>C	ENST00000370323.4	-	4	1099	c.783C>G	c.(781-783)caC>caG	p.H261Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.H261Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	261	MAGE.							p.H261Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAATGAGGTGCTCCATCC	0.532000													34	14					0	0	0.002836	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146017943	146017943	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:146017943G>T	ENST00000394413.3	-	6	1231	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L227I|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L224I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L210I|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L221I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L221I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L210I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L287I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L221I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L279I|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	221					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCCGTGAGCTCCTCCATG	0.552000													24	21					0.00465635	0.00479294	0.004656	1	0
DACH1	1602	broad.mit.edu	37	13	72440789	72440789	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:72440789G>T	ENST00000305425.4	-	1	541	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	DACH1_ENST00000354591.4_Missense_Mutation_p.P40Q|DACH1_ENST00000359684.2_Missense_Mutation_p.P40Q|DACH1_ENST00000313174.7_Missense_Mutation_p.P40Q	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	40					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)		GGAAGGAGCCGGAGACGAAGT	0.682000													8	14					5.18039e-06	5.70598e-06	0.003080	1	0
NDUFV2	4729	broad.mit.edu	37	18	9122556	9122556	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:9122556G>C	ENST00000400033.1	+	6	472	c.355G>C	c.(355-357)Gca>Cca	p.A119P	NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Missense_Mutation_p.A116P|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	116					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	ATATGAAGTAGCAACTTTTTA	0.348000													63	27					0	0	0.003610	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983828	51983828	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51983828C>T	ENST00000396477.4	+	2	315	c.294C>T	c.(292-294)ggC>ggT	p.G98G	CEACAM18_ENST00000451626.1_Silent_p.G159G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	159						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)		ACAGAGAAGGCAGCCTGTTGA	0.562000													30	20					0	0	0.007291	0	0
TMTC1	83857	broad.mit.edu	37	12	29670436	29670436	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:29670436C>A	ENST00000256062.5	-	14	2242	c.1769G>T	c.(1768-1770)cGa>cTa	p.R590L	TMTC1_ENST00000552618.1_Missense_Mutation_p.R722L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.R760L|TMTC1_ENST00000539277.1_Missense_Mutation_p.R698L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	698						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCTTCGTATCGGCCAGTGTT	0.478000													38	105					2.68985e-26	4.39e-26	0.003610	1	0
CCDC132	55610	broad.mit.edu	37	7	92905512	92905512	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92905512A>T	ENST00000544910.1	+	13	967	c.747A>T	c.(745-747)caA>caT	p.Q249H	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.Q279H|CCDC132_ENST00000541136.1_Missense_Mutation_p.Q90H|CCDC132_ENST00000305866.5_Missense_Mutation_p.Q279H|CCDC132_ENST00000317751.6_Missense_Mutation_p.Q10H	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	279										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)			ACTTCACCCAAGCCATTCACA	0.343000													58	15					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56487608	56487608	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56487608G>A	ENST00000291971.3	+	8	2886	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D920N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	939						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGAAGGATGATGGGGTGAT	0.468000													41	79					0	0	0.009718	0	0
WDR52	55779	broad.mit.edu	37	3	113125860	113125860	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113125860C>T	ENST00000393845.2	-	8	985	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.G307S|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	307										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGCTTGAGACCGGTGAACGTA	0.403000													38	34					0	0	0.002522	0	0
ADAM28	10863	broad.mit.edu	37	8	24199146	24199146	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:24199146G>T	ENST00000265769.4	+	16	1816	c.1706G>T	c.(1705-1707)gGg>gTg	p.G569V	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G316V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	569	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTCAAGGTGGGTCGGATAAT	0.413000													46	24					1.05386e-31	1.80543e-31	0.003610	1	0
MDH1B	130752	broad.mit.edu	37	2	207621757	207621757	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:207621757T>C	ENST00000374412.3	-	4	553	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Missense_Mutation_p.Y93C|MDH1B_ENST00000392214.2_Missense_Mutation_p.Y93C	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	93					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)		GGTGACATCATAATAAAGCTA	0.363000													13	12					0	0	0.003163	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396142	101396142	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101396142T>A	ENST00000372774.3	-	3	411	c.162A>T	c.(160-162)ccA>ccT	p.P54P	TCEAL6_ENST00000372773.1_Silent_p.P54P	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	54	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						cctcatcacctggctctccct	0.567000													46	14					0	0	0.002852	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279205	47279205	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:47279205G>A	ENST00000271153.4	+	5	583	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CYP4B1_ENST00000371919.4_Missense_Mutation_p.D168N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D183N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D20N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	183					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CATCTTCTGCGATGTGGGTCA	0.582000													13	48					0	0	0.001855	0	0
ASPM	259266	broad.mit.edu	37	1	197091635	197091635	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:197091635T>A	ENST00000367409.4	-	14	3737	c.3481A>T	c.(3481-3483)Ata>Tta	p.I1161L	ASPM_ENST00000294732.7_Missense_Mutation_p.I1161L|ASPM_ENST00000367408.1_Missense_Mutation_p.I411L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1161	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGCTGACATATAGCGTCAAAT	0.413000													11	13					0	0	0.008291	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926533	67926533	+	Missense_Mutation	SNP	G	G	C	rs71459689		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926533G>C	ENST00000304363.4	-	11	1633	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTTAGCTTAGATGAGGTAGA	0.378000													44	31					0	0	0.002522	0	0
CASR	846	broad.mit.edu	37	3	121976194	121976194	+	Missense_Mutation	SNP	C	C	A	rs104893694		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121976194C>A	ENST00000498619.1	+	3	890	c.452C>A	c.(451-453)aCg>aAg	p.T151K	CASR_ENST00000490131.1_Missense_Mutation_p.T151K|CASR_ENST00000296154.5_Missense_Mutation_p.T151K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	151			T -> M (in FIH; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor).		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)	GGCGTCTCCACGGCAGTGGCA	0.542000													39	29					1.30998e-17	1.86937e-17	0.005524	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185830	127185830	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:127185830C>A	ENST00000371124.3	-	1	552	c.356G>T	c.(355-357)cGa>cTa	p.R119L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton		p.R119P(1)|p.R119L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TAGCTTTTCTCGAATTTCCCT	0.488000													92	25					4.64247e-43	8.44672e-43	0.003610	1	0
LSAMP	4045	broad.mit.edu	37	3	115561343	115561343	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:115561343C>T	ENST00000490035.1	-	5	1231	c.732G>A	c.(730-732)gtG>gtA	p.V244V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Silent_p.V241V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	244	Ig-like C2-type 3.				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)		CAGGTGCAGGCACTGCCGAGG	0.547000													22	22					0	0	0.003330	0	0
STAP1	26228	broad.mit.edu	37	4	68436841	68436841	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:68436841C>A	ENST00000265404.2	+	2	242	c.160C>A	c.(160-162)Ctt>Att	p.L54I	STAP1_ENST00000396225.1_Missense_Mutation_p.L54I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	54	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGGAACTACTCTTTTCTTTTA	0.308000													37	60					1.00776e-21	1.54586e-21	0.003610	1	0
MUC5AC	4586	broad.mit.edu	37	11	1155780	1155780	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:1155780C>T	ENST00000356191.2	+	5	466	c.466C>T	c.(466-468)Cca>Tca	p.P156S						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGGTCAACGGCCACCCGTGAG	0.677000													22	5					0	0	0.005443	0	0
ALMS1	7840	broad.mit.edu	37	2	73826635	73826635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:73826635G>T	ENST00000264448.6	+	17	11763	c.11652G>T	c.(11650-11652)aaG>aaT	p.K3884N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K3842N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3884					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTTAAACAAGGGCATACAAG	0.343000													18	70					1.99824e-07	2.29354e-07	0.004990	1	0
ALLC	55821	broad.mit.edu	37	2	3743442	3743442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:3743442G>T	ENST00000252505.3	+	8	809	c.647G>T	c.(646-648)gGg>gTg	p.G216V	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	235							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCTAAGTTTGGGCACCCAAAC	0.443000										HNSCC(21;0.051)			14	20					4.36969e-10	5.32988e-10	0.001855	1	0
DPP6	1804	broad.mit.edu	37	7	154143368	154143368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:154143368G>T	ENST00000404039.1	+	2	708	c.121G>T	c.(121-123)Gtc>Ttc	p.V41F	DPP6_ENST00000332007.3_Missense_Mutation_p.V43F|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000406326.1_Missense_Mutation_p.V105F|DPP6_ENST00000427557.1_Missense_Mutation_p.V43F|DPP6_ENST00000377770.3_Missense_Mutation_p.V105F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	105					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCATTCTGGTCATCTGCTC	0.458000													29	7					3.99451e-17	5.63071e-17	0.009535	1	0
MCTP1	79772	broad.mit.edu	37	5	94417132	94417132	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:94417132T>A	ENST00000429576.2	-	1	217	c.55A>T	c.(55-57)Aag>Tag	p.K19*	MCTP1_ENST00000505208.1_Nonsense_Mutation_p.K19*|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.K19*|MCTP1_ENST00000515393.1_Intron			Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	240					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACTTACCTTATTACAAATA	0.363000													7	13					0	0	0.003080	0	0
CAB39L	81617	broad.mit.edu	37	13	49906179	49906179	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:49906179T>A	ENST00000355854.4	-	8	1235	c.738A>T	c.(736-738)acA>acT	p.T246T	CAB39L_ENST00000409130.1_Silent_p.T102T|CAB39L_ENST00000409308.1_Silent_p.T246T|CAB39L_ENST00000347776.5_Silent_p.T246T|CAB39L_ENST00000410043.1_Silent_p.T246T	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	246					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGATATACTTTGTCATGATGG	0.438000													72	57					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919881	116919881	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:116919881G>T	ENST00000355044.3	+	6	1036	c.910G>T	c.(910-912)Ggt>Tgt	p.G304C	ATRNL1_ENST00000527407.1_Missense_Mutation_p.G304C|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	304						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTTCTGTAGGTCGGGCTTC	0.368000													119	19					2.09629e-50	3.89339e-50	0.003610	1	0
PIGN	23556	broad.mit.edu	37	18	59821857	59821857	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:59821857T>C	ENST00000357637.5	-	7	885	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	PIGN_ENST00000400334.3_Missense_Mutation_p.Y157C	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	157					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCATAACTATATGTATAAAC	0.313000													63	26					0	0	0.003610	0	0
AJAP1	55966	broad.mit.edu	37	1	4829947	4829947	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:4829947C>T	ENST00000378191.4	+	3	1245	c.864C>T	c.(862-864)gtC>gtT	p.V288V	AJAP1_ENST00000378190.3_Silent_p.V288V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	288					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCATCACCGTCTCCCTCATCA	0.557000													303	109					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219890813	219890813	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219890813C>A	ENST00000341552.5	-	14	2363	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	CCDC108_ENST00000453220.1_Silent_p.R760R|CCDC108_ENST00000441968.1_Silent_p.R760R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						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)		GGCCTCGTGCCCGCACCGTCA	0.592000													16	35					4.14922e-12	5.27375e-12	0.004007	1	0
PIEZO2	63895	broad.mit.edu	37	18	10671667	10671667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:10671667G>T	ENST00000302079.6	-	51	7926	c.7927C>A	c.(7927-7929)Cga>Aga	p.R2643R	PIEZO2_ENST00000285141.4_Silent_p.R498R|PIEZO2_ENST00000580640.1_Silent_p.R2731R|PIEZO2_ENST00000538948.1_Silent_p.R663R|PIEZO2_ENST00000503781.3_Silent_p.R2706R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2706						integral to membrane	ion channel activity										TTCAAAATTCGATCCACATTT	0.378000													32	6					9.78306e-22	1.5042e-21	0.009535	1	0
SLIT3	6586	broad.mit.edu	37	5	168123328	168123328	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168123328G>A	ENST00000519560.1	-	28	3470	c.3051C>T	c.(3049-3051)aaC>aaT	p.N1017N	SLIT3_ENST00000404867.3_Silent_p.N1017N|SLIT3_ENST00000332966.8_Silent_p.N1024N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1017	EGF-like 3.				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)			TACACACGTAGTTGTTGATCC	0.517000													35	13					0	0	0.004878	0	0
FER1L6	654463	broad.mit.edu	37	8	125074115	125074115	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:125074115T>A	ENST00000522917.1	+	25	3376	c.3170T>A	c.(3169-3171)cTg>cAg	p.L1057Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.L1057Q|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1057	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACGAGCTTCTGCACCCGCCA	0.557000													18	37					0	0	0.004990	0	0
FOXF1	2294	broad.mit.edu	37	16	86544356	86544356	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:86544356A>T	ENST00000262426.4	+	1	224	c.181A>T	c.(181-183)Atc>Ttc	p.I61F		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	61					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGTCATGGCCATCCAGAGTTC	0.647000													13	5					0	0	0.001855	0	0
TFDP3	51270	broad.mit.edu	37	X	132351734	132351734	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:132351734T>C	ENST00000310125.4	-	1	642	c.554A>G	c.(553-555)aAg>aGg	p.K185R		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	185	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ACCAATCCACTTGATCTTCTT	0.443000													15	5					0	0	0.002450	0	0
GBA3	57733	broad.mit.edu	37	4	22749119	22749119	+	RNA	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:22749119A>C	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGATCACCATAAATGAAGC	0.438000													62	40					0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882701	144882701	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:144882701C>A	ENST00000369359.4	-	27	3767	c.3729G>T	c.(3727-3729)caG>caT	p.Q1243H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1106H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1243H|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1106H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1106					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAGTTTTCCCTGGAGCTTTC	0.478000			T	PDGFRB	MPD								38	222					2.52637e-11	3.17209e-11	0.005524	1	0
DARC	2532	broad.mit.edu	37	1	159175667	159175667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159175667G>T	ENST00000537147.1	+	3	1281	c.438G>T	c.(436-438)ctG>ctT	p.L146L	DARC_ENST00000368122.2_Silent_p.L146L|DARC_ENST00000368121.2_Silent_p.L148L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	146					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGGCTTTGCTGCTAGGGTGCC	0.647000													7	15					8.12818e-05	8.68982e-05	0.001984	1	0
CEP85L	387119	broad.mit.edu	37	6	118886876	118886876	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:118886876A>G	ENST00000368491.3	-	3	1457	c.836T>C	c.(835-837)aTg>aCg	p.M279T	CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.M282T|CEP85L_ENST00000419517.2_Missense_Mutation_p.M279T|CEP85L_ENST00000368488.5_Missense_Mutation_p.M282T|CEP85L_ENST00000360290.3_Missense_Mutation_p.M177T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	279						centrosome											TTGACCAAGCATTAAATATTT	0.463000													18	20					0	0	0.004990	0	0
GNAZ	2781	broad.mit.edu	37	22	23438545	23438545	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:23438545C>A	ENST00000248996.4	+	2	1329	c.663C>A	c.(661-663)gcC>gcA	p.A221A	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	221						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCGTCACAGCCATCATCTTCT	0.557000													405	29					1.01229e-179	1.95782e-179	0.003610	1	0
UNC79	57578	broad.mit.edu	37	14	94120157	94120157	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94120157C>A	ENST00000553484.1	+	38	6490	c.6336C>A	c.(6334-6336)gcC>gcA	p.A2112A	UNC79_ENST00000393151.2_Silent_p.A2090A|UNC79_ENST00000555664.1_Silent_p.A2051A|UNC79_ENST00000256339.4_Silent_p.A1913A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2090						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						ATCAGTTGGCCCCCAACGGCA	0.552000													112	140					1.9362e-44	3.53591e-44	0.003610	1	0
PLSCR4	57088	broad.mit.edu	37	3	145924363	145924363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:145924363C>A	ENST00000354952.2	-	4	544	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	PLSCR4_ENST00000446574.2_Missense_Mutation_p.G102W|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G87W|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G102W|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G102W	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	102					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GGAGTTGGCCCTGGCATCCAT	0.448000													49	51					1.4374e-25	2.3266e-25	0.003610	1	0
PLCB1	23236	broad.mit.edu	37	20	8770180	8770180	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8770180G>T	ENST00000378641.3	+	30	3769	c.3294G>T	c.(3292-3294)atG>atT	p.M1098I	PLCB1_ENST00000378637.2_Missense_Mutation_p.M1098I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M1098I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1098					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGACAGAGATGATCCGGTCAT	0.398000													70	26					7.33394e-39	1.31011e-38	0.003610	1	0
AMICA1	120425	broad.mit.edu	37	11	118081211	118081211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:118081211C>A	ENST00000292067.7	-	3	826	c.385G>T	c.(385-387)Gag>Tag	p.E129*	AMICA1_ENST00000533261.1_Nonsense_Mutation_p.E139*|AMICA1_ENST00000526620.1_Nonsense_Mutation_p.E100*|AMICA1_ENST00000356289.5_Nonsense_Mutation_p.E139*	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	139	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTTGGGCTCCTCTGGAAGC	0.507000													27	71					7.68411e-24	1.21965e-23	0.008361	1	0
RNF149	284996	broad.mit.edu	37	2	101924613	101924613	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:101924613G>T	ENST00000295317.3	-	1	545	c.438C>A	c.(436-438)atC>atA	p.I146I		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	146	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TGGGCAAGGTGATGTTCCCGT	0.682000													19	47					2.4624e-09	2.95397e-09	0.008871	1	0
GATA1	2623	broad.mit.edu	37	X	48650612	48650612	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48650612C>A	ENST00000376670.3	+	3	693	c.582C>A	c.(580-582)ctC>ctA	p.L194L	GATA1_ENST00000376665.3_Silent_p.L194L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	194					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GTGGAACTCTCCCCCTGCCTC	0.552000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								23	6					3.83957e-06	4.24817e-06	0.002780	1	0
SPINK9	643394	broad.mit.edu	37	5	147718114	147718114	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:147718114G>A	ENST00000511717.2	+	4	494	c.224G>A	c.(223-225)tGt>tAt	p.C75Y	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.C54Y			Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	54	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCAATTTGTGGATCTGAT	0.279000													14	8					0	0	0.006122	0	0
MTRR	4552	broad.mit.edu	37	5	7897015	7897015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:7897015G>T	ENST00000264668.2	+	13	1826	c.1796G>T	c.(1795-1797)gGa>gTa	p.G599V	MTRR_ENST00000440940.2_Missense_Mutation_p.G572V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	599					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGAAATTTTGGAGCAATGTGG	0.348000													33	48					1.30998e-17	1.86937e-17	0.005524	1	0
ARMC5	79798	broad.mit.edu	37	16	31471207	31471207	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31471207C>T	ENST00000457010.2	+	1	1063	c.362C>T	c.(361-363)cCg>cTg	p.P121L	ARMC5_ENST00000538189.1_Missense_Mutation_p.P153L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P121L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P121L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P216L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	121							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTCCTACGCCGCCAGTGCGC	0.731000													11	11					0	0	0.008291	0	0
TBX5	6910	broad.mit.edu	37	12	114823344	114823344	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:114823344G>T	ENST00000310346.4	-	7	1358	c.692C>A	c.(691-693)cCc>cAc	p.P231H	TBX5_ENST00000526441.1_Missense_Mutation_p.P231H|TBX5_ENST00000349716.5_Missense_Mutation_p.P181H|TBX5_ENST00000405440.2_Missense_Mutation_p.P231H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	231					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGGCAAAGGGATTATTCTC	0.453000													32	13					4.39465e-27	7.23239e-27	0.002836	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98643552	98643552	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:98643552A>T	ENST00000288985.7	+	2	786	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	161	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GGGTGATGACATGGGACTTGG	0.363000													27	6					0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179634423	179634423	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179634423G>T	ENST00000589042.1	-	37	9109	c.8885C>A	c.(8884-8886)gCc>gAc	p.A2962D	TTN_ENST00000460472.2_Missense_Mutation_p.A2916D|TTN_ENST00000360870.5_Missense_Mutation_p.A2962D|TTN_ENST00000342175.6_Missense_Mutation_p.A2916D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2916D|TTN_ENST00000342992.6_Missense_Mutation_p.A2962D|TTN_ENST00000591111.1_Missense_Mutation_p.A2962D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2700	Ig-like 16.						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)			TGTCAGGGTGGCACTGACTTG	0.358000													38	33					3.3946e-10	4.16119e-10	0.005524	1	0
LRP1B	53353	broad.mit.edu	37	2	141473552	141473552	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141473552G>T	ENST00000389484.3	-	37	6984	c.6013C>A	c.(6013-6015)Cca>Aca	p.P2005T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2005					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)		CCTTTCTCTGGGTGCACAGCT	0.328000										TSP Lung(27;0.18)			17	39					5.3912e-06	5.92821e-06	0.006122	1	0
RFX4	5992	broad.mit.edu	37	12	107090223	107090223	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:107090223A>T	ENST00000392842.1	+	8	1246	c.833_splice	c.e8+1	p.S278_splice	RFX4_ENST00000357881.4_Splice_Site_p.S287_splice|RFX4_ENST00000229387.5_Splice_Site_p.S184_splice|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	278					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATTACCTGACAGGTGGGCATG	0.522000													39	6					0	0	0.006230	0	0
ITGAX	3687	broad.mit.edu	37	16	31393210	31393210	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31393210C>A	ENST00000268296.4	+	30	3595	c.3474C>A	c.(3472-3474)agC>agA	p.S1158R	ITGAX_ENST00000562522.1_Missense_Mutation_p.S1158R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1158					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						AGACCCCCAGCCCGCCCAGTG	0.562000													31	34					4.74835e-14	6.24951e-14	0.002096	1	0
DUSP27	92235	broad.mit.edu	37	1	167096456	167096456	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167096456G>C	ENST00000361200.2	+	6	2254	c.2088G>C	c.(2086-2088)gcG>gcC	p.A696A	DUSP27_ENST00000271385.5_Silent_p.A696A|DUSP27_ENST00000443333.1_Silent_p.A696A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	696					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						GCAACATAGCGGGGTGTTCAA	0.597000													13	23					0	0	0.001855	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045040	184045040	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:184045040A>T	ENST00000342981.4	+	23	3882	c.3468A>T	c.(3466-3468)ggA>ggT	p.G1156G	EIF4G1_ENST00000434061.2_Silent_p.G960G|EIF4G1_ENST00000435046.2_Silent_p.G959G|EIF4G1_ENST00000350481.5_Silent_p.G991G|EIF4G1_ENST00000346169.2_Silent_p.G1155G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Silent_p.G1155G|EIF4G1_ENST00000427845.1_Silent_p.G1069G|EIF4G1_ENST00000414031.1_Silent_p.G1115G|EIF4G1_ENST00000441154.1_Silent_p.G992G|EIF4G1_ENST00000382330.3_Silent_p.G1162G|EIF4G1_ENST00000352767.3_Silent_p.G1162G|EIF4G1_ENST00000392537.2_Silent_p.G1068G|EIF4G1_ENST00000424196.1_Silent_p.G1162G|EIF4G1_ENST00000411531.1_Silent_p.G1116G	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1155					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAAGCTGGAGACCGAGGAG	0.577000													21	48					0	0	0.008871	0	0
FYB	2533	broad.mit.edu	37	5	39202061	39202061	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:39202061C>A	ENST00000351578.6	-	2	1192	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	FYB_ENST00000505428.1_Missense_Mutation_p.K334N|FYB_ENST00000512982.1_Missense_Mutation_p.K334N|FYB_ENST00000540520.1_Missense_Mutation_p.K344N|FYB_ENST00000515010.1_Missense_Mutation_p.K334N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	334					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTGTCTCCCTTTTCCTTTT	0.552000													28	109					1.88708e-17	2.6851e-17	0.008361	1	0
ABCG8	64241	broad.mit.edu	37	2	44100976	44100976	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:44100976G>C	ENST00000272286.2	+	9	1352	c.1262G>C	c.(1261-1263)gGg>gCg	p.G421A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCATCCATGGGGCGGAGGCC	0.537000													89	117					0	0	0.003610	0	0
EPHB1	2047	broad.mit.edu	37	3	134967287	134967287	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:134967287A>C	ENST00000398015.3	+	14	2996	c.2626A>C	c.(2626-2628)Aac>Cac	p.N876H	EPHB1_ENST00000493838.1_Missense_Mutation_p.N437H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	876	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAGATTGTCAACACCCTAGA	0.567000													7	30					0	0	0.001984	0	0
UCMA	221044	broad.mit.edu	37	10	13264168	13264168	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:13264168G>T	ENST00000378681.3	-	5	424	c.352C>A	c.(352-354)Cag>Aag	p.Q118K	UCMA_ENST00000463405.2_Missense_Mutation_p.Q96K	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	118						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGGCGCCACTGCTCCACAGCC	0.607000													91	11					3.61922e-38	6.44767e-38	0.003610	1	0
SESN2	83667	broad.mit.edu	37	1	28601354	28601354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:28601354C>A	ENST00000253063.3	+	8	1360	c.1039C>A	c.(1039-1041)Cat>Aat	p.H347N		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	347					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGAAGACCATGGCTACTC	0.557000													29	80					2.70662e-09	3.24102e-09	0.009535	1	0
NDUFS1	4719	broad.mit.edu	37	2	206994966	206994966	+	Splice_Site	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:206994966C>T	ENST00000233190.5	-	15	1820	c.1553_splice	c.e15-1	p.R518_splice	NDUFS1_ENST00000440274.1_Splice_Site_p.R482_splice|NDUFS1_ENST00000423725.1_Splice_Site_p.R461_splice|NDUFS1_ENST00000457011.1_Splice_Site_p.R402_splice|NDUFS1_ENST00000455934.2_Splice_Site_p.R532_splice|NDUFS1_ENST00000449699.1_Splice_Site_p.R518_splice|NDUFS1_ENST00000432169.1_Splice_Site_p.R407_splice	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	518					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GACTTGCAATCCTGCAAAGCA	0.388000													7	20					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13891206	13891206	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:13891206C>A	ENST00000265104.4	-	17	2560	c.2456G>T	c.(2455-2457)aGg>aTg	p.R819M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	819	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)					ATCATTGACCCTGTCAAGCAG	0.388000									Kartagener syndrome				72	124					9.07738e-34	1.5785e-33	0.003610	1	0
PLAA	9373	broad.mit.edu	37	9	26920328	26920328	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:26920328T>C	ENST00000397292.3	-	8	1511	c.1094A>G	c.(1093-1095)tAt>tGt	p.Y365C	PLAA_ENST00000520884.1_Missense_Mutation_p.Y365C	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	365					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACTCCACTGATAGGCTTCGAC	0.383000													14	23					0	0	0.001855	0	0
KCTD8	386617	broad.mit.edu	37	4	44450425	44450425	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44450425G>T	ENST00000360029.3	-	1	399	c.116C>A	c.(115-117)cCc>cAc	p.P39H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	39						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						GAAGGGCGAGGGTGCGCAggg	0.682000										HNSCC(17;0.042)			15	5					4.75885e-15	6.43575e-15	0.004990	1	0
XRCC5	7520	broad.mit.edu	37	2	216995607	216995607	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:216995607A>G	ENST00000392133.3	+	11	1408	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	XRCC5_ENST00000392132.2_Missense_Mutation_p.Y316C|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	316	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GGGTTCCGCTATGGAAGTGAT	0.388000								Non-homologous end-joining					13	19					0	0	0.001368	0	0
C10orf12	26148	broad.mit.edu	37	10	98741316	98741316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98741316G>T	ENST00000286067.2	+	1	276	c.169G>T	c.(169-171)Gag>Tag	p.E57*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	57										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTGACAAAGAGAATACTTT	0.413000													14	24					0.00244969	0.00253483	0.002450	1	0
FOXA2	3170	broad.mit.edu	37	20	22563685	22563685	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:22563685G>C	ENST00000419308.2	-	2	379	c.177C>G	c.(175-177)agC>agG	p.S59R	FOXA2_ENST00000319993.4_Missense_Mutation_p.S65R|FOXA2_ENST00000377115.4_Missense_Mutation_p.S59R	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	59	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGGAGCCCGCGCTCATGTTGC	0.692000													60	35					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161173271	161173271	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:161173271C>T	ENST00000308192.9	+	18	2313	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	750	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCATTTGGCCGGAGGCACTG	0.502000													19	35					0	0	0.007413	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602374	94602374	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:94602374G>C	ENST00000433060.2	+	12	2641	c.2500G>C	c.(2500-2502)Ggg>Cgg	p.G834R	AMOTL1_ENST00000317837.9_Missense_Mutation_p.G421R|AMOTL1_ENST00000317829.8_Missense_Mutation_p.G784R	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	834						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATTGCTGCTGGGGAAGGAGCA	0.498000													8	23					0	0	0.008291	0	0
TRIM47	91107	broad.mit.edu	37	17	73870763	73870763	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:73870763C>A	ENST00000254816.2	-	6	1744	c.1718G>T	c.(1717-1719)cGg>cTg	p.R573L	TRIM47_ENST00000587339.1_Missense_Mutation_p.R335L	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	573	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCAGCCTCCGCAGGAGGCT	0.677000													40	11					2.87052e-16	3.98627e-16	0.005524	1	0
GSTA5	221357	broad.mit.edu	37	6	52697680	52697680	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:52697680T>A	ENST00000370989.1	-	6	681	c.523A>T	c.(523-525)Atc>Ttc	p.I175F	GSTA5_ENST00000284562.2_Missense_Mutation_p.I175F|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	175	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAGCTGGAGATAAGACTCGAG	0.522000													66	55					0	0	0.003610	0	0
SCN8A	6334	broad.mit.edu	37	12	52200380	52200380	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52200380T>A	ENST00000354534.5	+	27	5288	c.5110T>A	c.(5110-5112)Tca>Aca	p.S1704T	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1663T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1704					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AATCACAACCTCAGCTGGTTG	0.507000													47	11					0	0	0.003610	0	0
REG3G	130120	broad.mit.edu	37	2	79253911	79253911	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79253911C>A	ENST00000272324.5	+	3	333	c.149C>A	c.(148-150)cCc>cAc	p.P50H	REG3G_ENST00000393897.2_Missense_Mutation_p.P50H|REG3G_ENST00000409471.1_Missense_Mutation_p.P50H	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	50	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATGGCTCCCCCTGCTATGCC	0.527000													14	25					0.000151284	0.000160863	0.001855	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008694	88008694	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:88008694G>T	ENST00000276127.4	+	3	538	c.279G>T	c.(277-279)caG>caT	p.Q93H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q93H	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	93						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTCTACTTCAGACCCCCATTC	0.413000													9	4					9.70103e-10	1.17308e-09	0.008291	1	0
RGS7	6000	broad.mit.edu	37	1	240975230	240975230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:240975230G>T	ENST00000366565.1	-	14	1451	c.1070C>A	c.(1069-1071)tCg>tAg	p.S357*	RGS7_ENST00000348120.2_Nonsense_Mutation_p.S304*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.S357*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.S304*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.S331*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.S273*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	357	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAAATTTTCCGAGCTGAATTC	0.398000													33	9					2.42023e-17	3.42881e-17	0.003271	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774034	140774034	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140774034G>T	ENST00000398604.2	+	1	1654	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGTTCGTGCTGGACCA	0.637000													120	28					3.59472e-76	6.87792e-76	0.003610	1	0
C2orf78	388960	broad.mit.edu	37	2	74043870	74043870	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74043870G>A	ENST00000409561.1	+	3	2641	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	840										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CACTGCCCAAGCCTCAAAATC	0.517000													33	44					0	0	0.003755	0	0
NHSL2	340527	broad.mit.edu	37	X	71360027	71360027	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:71360027G>T	ENST00000373677.1	+	2	2793	c.1531G>T	c.(1531-1533)Gtg>Ttg	p.V511L	NHSL2_ENST00000535692.1_Missense_Mutation_p.V511L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V877L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V646L			F5H593	F5H593_HUMAN	NHS-like 2	877										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GAAGCCTCCGGTGGCCCGGAG	0.547000													21	8					1.50039e-11	1.8887e-11	0.001882	1	0
OR6B1	135946	broad.mit.edu	37	7	143701656	143701656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:143701656C>A	ENST00000408922.2	+	1	635	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCTCTCCTGCACAGACATGT	0.473000													21	56					4.35082e-09	5.19402e-09	0.010504	1	0
PCNXL3	399909	broad.mit.edu	37	11	65387346	65387346	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65387346G>T	ENST00000355703.3	+	8	2490	c.1951G>T	c.(1951-1953)Gcc>Tcc	p.A651S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	651						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGCATGAGGCCTGCACCTT	0.642000													8	13					0.000157383	0.000166896	0.003080	1	0
PLA2G6	8398	broad.mit.edu	37	22	38524306	38524306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:38524306G>A	ENST00000332509.3	-	9	1501	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	PLA2G6_ENST00000402064.1_Intron|PLA2G6_ENST00000335539.3_Intron	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	440					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGTGGGGGCTGAGCTCTTTCC	0.652000													14	18					0	0	0.003163	0	0
MED13	9969	broad.mit.edu	37	17	60107008	60107008	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:60107008T>G	ENST00000397786.2	-	8	1253	c.1177A>C	c.(1177-1179)Aag>Cag	p.K393Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	393					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAGAATACTTCCTCCTAAGA	0.333000													32	6					0	0	0.009535	0	0
CA10	56934	broad.mit.edu	37	17	49825100	49825100	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:49825100C>G	ENST00000451037.2	-	4	1298	c.358G>C	c.(358-360)Ggg>Cgg	p.G120R	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.G45R|CA10_ENST00000285273.4_Missense_Mutation_p.G120R|CA10_ENST00000442502.2_Missense_Mutation_p.G120R|CA10_ENST00000340813.6_Missense_Mutation_p.G126R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	120					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTCATGGGCCCTCCAGATATG	0.557000													74	13					0	0	0.003610	0	0
C6orf10	10665	broad.mit.edu	37	6	32261590	32261590	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32261590T>A	ENST00000375015.4	-	26	1057	c.857A>T	c.(856-858)aAa>aTa	p.K286I	C6orf10_ENST00000527965.1_Missense_Mutation_p.K271I|C6orf10_ENST00000447241.2_Missense_Mutation_p.K287I|C6orf10_ENST00000442822.2_Missense_Mutation_p.K278I|C6orf10_ENST00000375007.4_Missense_Mutation_p.K285I|C6orf10_ENST00000533191.1_Missense_Mutation_p.K285I			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	287						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CATTCCTATTTTGTCTTTCTC	0.393000													242	104					0	0	0.003610	0	0
OR10V1	390201	broad.mit.edu	37	11	59480965	59480965	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59480965G>T	ENST00000307552.2	-	1	372	c.354C>A	c.(352-354)gtC>gtA	p.V118V	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CATAAGCCATGACTACCAGCA	0.512000													30	21					7.11191e-15	9.5653e-15	0.002836	1	0
NLGN1	22871	broad.mit.edu	37	3	173999053	173999053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:173999053C>A	ENST00000457714.1	+	7	2861	c.2432C>A	c.(2431-2433)cCc>cAc	p.P811H	NLGN1_ENST00000545397.1_Missense_Mutation_p.P811H|NLGN1_ENST00000361589.4_Missense_Mutation_p.P811H|NLGN1_ENST00000401917.3_Missense_Mutation_p.P851H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	828					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGCCCCATCCCCATCCCCAC	0.423000													22	13					1.50039e-11	1.8887e-11	0.001882	1	0
KLHL38	340359	broad.mit.edu	37	8	124657999	124657999	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:124657999G>C	ENST00000325995.7	-	3	1749	c.1726C>G	c.(1726-1728)Cgc>Ggc	p.R576G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	576										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGACGTGCGGGGTATGCAC	0.582000													32	38					0	0	0.003755	0	0
VAV3	10451	broad.mit.edu	37	1	108313319	108313319	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:108313319C>G	ENST00000370056.4	-	6	861	c.587G>C	c.(586-588)tGt>tCt	p.C196S	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.C196S|VAV3_ENST00000371846.4_Missense_Mutation_p.C131S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	196	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCTGCTAGACAACAACTTCG	0.299000													15	36					0	0	0.004007	0	0
MSH4	4438	broad.mit.edu	37	1	76347015	76347015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76347015G>T	ENST00000263187.3	+	14	1970	c.1866G>T	c.(1864-1866)atG>atT	p.M622I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	622					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGCTGGATATGCTACTGTCAT	0.348000								Mismatch excision repair (MMR)					26	29					1.74197e-06	1.94377e-06	0.006320	1	0
TACC1	6867	broad.mit.edu	37	8	38699955	38699955	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:38699955G>T	ENST00000379931.3	+	11	2526	c.2147G>T	c.(2146-2148)gGg>gTg	p.G716V	TACC1_ENST00000520973.1_Missense_Mutation_p.G480V|TACC1_ENST00000519416.1_Missense_Mutation_p.G508V|TACC1_ENST00000520615.1_Missense_Mutation_p.G509V|TACC1_ENST00000330691.6_Missense_Mutation_p.G278V|TACC1_ENST00000443286.2_Missense_Mutation_p.G691V|TACC1_ENST00000518415.1_Missense_Mutation_p.G630V|TACC1_ENST00000317827.4_Missense_Mutation_p.G704V|TACC1_ENST00000520611.1_Missense_Mutation_p.G141V|TACC1_ENST00000276520.8_Missense_Mutation_p.G294V|TACC1_ENST00000348567.4_Missense_Mutation_p.G266V			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	704	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GTTCTGGAAGGGTTCAAGAAG	0.453000													44	42					5.48756e-27	9.01594e-27	0.002852	1	0
OR4B1	119765	broad.mit.edu	37	11	48238445	48238445	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:48238445G>T	ENST00000309562.2	+	1	102	c.84G>T	c.(82-84)gtG>gtT	p.V28V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTTTGTGGTGTTTCTCCCCG	0.493000													90	18					2.41567e-30	4.10621e-30	0.003610	1	0
C7orf34	135927	broad.mit.edu	37	7	142636792	142636792	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142636792C>T	ENST00000409607.3	+	1	190	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	25						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGGTGAAGCCTCTGAACGGG	0.597000													44	13					0	0	0.003214	0	0
RGS12	6002	broad.mit.edu	37	4	3372022	3372022	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:3372022G>A	ENST00000338806.4	+	1	417	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	RGS12_ENST00000336727.3_Intron|RGS12_ENST00000543385.1_Intron|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Intron|RGS12_ENST00000344733.5_Intron	NM_198227.1	NP_937870.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	0						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTTGTCAAACGAAACCCATGT	0.478000													45	114					0	0	0.003610	0	0
APLP2	334	broad.mit.edu	37	11	130011868	130011868	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:130011868G>T	ENST00000263574.5	+	17	2161	c.2089G>T	c.(2089-2091)Ggc>Tgc	p.G697C	APLP2_ENST00000539648.1_Missense_Mutation_p.G485C|APLP2_ENST00000338167.5_Missense_Mutation_p.G685C|APLP2_ENST00000345598.5_Missense_Mutation_p.G456C|APLP2_ENST00000278756.7_Missense_Mutation_p.G695C|APLP2_ENST00000528499.1_Missense_Mutation_p.G629C|APLP2_ENST00000543137.1_Missense_Mutation_p.G592C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	697					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGCTCTCATTGGCCTGCTGGT	0.562000													28	46					4.87955e-14	6.41359e-14	0.005443	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97991678	97991678	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:97991678C>T	ENST00000005260.8	-	2	333	c.118G>A	c.(118-120)Gct>Act	p.A40T	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	40	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCGTTTACAGCTTTCTCATAA	0.284000													33	6					0	0	0.003755	0	0
ALPP	250	broad.mit.edu	37	2	233245182	233245182	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:233245182C>G	ENST00000392027.2	+	7	1114	c.845C>G	c.(844-846)cCg>cGg	p.P282R	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	282						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCCTGGACCCGTCTGTGACC	0.637000													6	116					0	0	0.003080	0	0
WRN	7486	broad.mit.edu	37	8	31030607	31030607	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:31030607C>G	ENST00000298139.5	+	35	4537	c.4288C>G	c.(4288-4290)Ctt>Gtt	p.L1430V	RP11-363L24.3_ENST00000521252.1_RNA|RP11-363L24.3_ENST00000523365.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1430					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGGGGAGGTCTTTTTAGTTA	0.363000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				10	3					0	0	0.001368	0	0
ADCY2	108	broad.mit.edu	37	5	7626323	7626323	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:7626323G>C	ENST00000338316.4	+	4	703	c.614G>C	c.(613-615)gGa>gCa	p.G205A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACCTGGCGGGAGCCTACCAT	0.443000													55	110					0	0	0.003610	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343357	38343357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:38343357A>T	ENST00000374618.3	+	5	483	c.305A>T	c.(304-306)cAt>cTt	p.H102L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.H108L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H101L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.H102L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H101L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	101						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAATCTAAACATTTGTGGGAA	0.348000													68	29					0	0	0.003610	0	0
RGS6	9628	broad.mit.edu	37	14	72961950	72961950	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72961950T>A	ENST00000553530.1	+	13	1152	c.945T>A	c.(943-945)gcT>gcA	p.A315A	RGS6_ENST00000407322.4_Silent_p.A315A|RGS6_ENST00000553525.1_Silent_p.A315A|RGS6_ENST00000434263.2_Silent_p.A246A|RGS6_ENST00000355512.6_Silent_p.A315A|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000404301.2_Silent_p.A315A|RGS6_ENST00000402788.2_Silent_p.A315A|RGS6_ENST00000406236.4_Silent_p.A315A|RGS6_ENST00000556437.1_Silent_p.A315A|RGS6_ENST00000555571.1_Silent_p.A315A|RGS6_ENST00000554782.1_Silent_p.A176A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	315	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGACGTTGCTTTGTGGGACA	0.408000													29	60					0	0	0.002096	0	0
DPP6	1804	broad.mit.edu	37	7	154379599	154379599	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:154379599G>C	ENST00000406326.1	+	6	1270	c.867G>C	c.(865-867)tgG>tgC	p.W289C	DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGAGACCCTGGCTGGAGGATT	0.572000													39	10					0	0	0.006999	0	0
NRXN1	9378	broad.mit.edu	37	2	51254659	51254659	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:51254659G>T	ENST00000404971.1	-	2	2092	c.753C>A	c.(751-753)cgC>cgA	p.R251R	NRXN1_ENST00000405581.1_Silent_p.R251R|NRXN1_ENST00000402717.3_Silent_p.R251R|NRXN1_ENST00000401669.2_Silent_p.R251R|NRXN1_ENST00000405472.3_Silent_p.R251R|NRXN1_ENST00000406859.3_Silent_p.R251R|NRXN1_ENST00000406316.2_Silent_p.R251R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	251	EGF-like 1.				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)			AGTCCTTGCCGCGGAAGCCGG	0.746000													16	17					2.39187e-15	3.25712e-15	0.008871	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102469237	102469237	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:102469237C>A	ENST00000360184.4	+	23	4982	c.4818C>A	c.(4816-4818)gaC>gaA	p.D1606E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1606	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						GATTGGCAGACCTGCTAGGAA	0.463000													26	21					5.45024e-15	7.36063e-15	0.003330	1	0
MUC16	94025	broad.mit.edu	37	19	9088057	9088057	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9088057A>T	ENST00000397910.4	-	1	3961	c.3758T>A	c.(3757-3759)cTc>cAc	p.L1253H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1253	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						GTGTGCTCCGAGGTGGATGCT	0.507000													358	78					0	0	0.003610	0	0
CTSG	1511	broad.mit.edu	37	14	25042994	25042994	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:25042994A>T	ENST00000216336.2	-	5	653	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	206	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATTGTTACACAGCAGGGGGCC	0.592000													81	21					0	0	0.003610	0	0
MN1	4330	broad.mit.edu	37	22	28192875	28192875	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:28192875C>A	ENST00000302326.4	-	1	4611	c.3657G>T	c.(3655-3657)ctG>ctT	p.L1219L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1219							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTCTGCCATCAGCGAGTCCA	0.667000			T	ETV6	"""AML, meningioma"""								100	8					5.78178e-49	1.06979e-48	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10428226	10428226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10428226G>T	ENST00000245503.5	-	34	5203	c.4819C>A	c.(4819-4821)Ctg>Atg	p.L1607M	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1607M|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1607					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						TCAGCATCCAGCGTGCTCTGC	0.458000													82	60					1.52223e-32	2.62615e-32	0.003610	1	0
RREB1	6239	broad.mit.edu	37	6	7230981	7230981	+	Silent	SNP	G	G	T	rs139120793	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:7230981G>T	ENST00000379938.2	+	10	3186	c.2649G>T	c.(2647-2649)tcG>tcT	p.S883S	RREB1_ENST00000349384.6_Silent_p.S883S|RREB1_ENST00000334984.6_Silent_p.S883S|RREB1_ENST00000379933.3_Silent_p.S883S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	883					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)				CCCATGTCTCGATCAAGTTGG	0.612000													15	75					4.7546e-09	5.66917e-09	0.004007	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130415511	130415511	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:130415511A>T	ENST00000529410.1	+	20	2214	c.1736_splice	c.e20+1	p.S579_splice	L3MBTL3_ENST00000361794.2_Splice_Site_p.S579_splice|L3MBTL3_ENST00000368139.2_Splice_Site_p.S554_splice|L3MBTL3_ENST00000526019.1_Splice_Site_p.S554_splice|L3MBTL3_ENST00000533560.1_Splice_Site_p.S554_splice|L3MBTL3_ENST00000368136.2_Splice_Site_p.S579_splice			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	579					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGGCCCTCACAGGTATGTGGT	0.403000													33	2					0	0	0.002836	0	0
ABCA13	154664	broad.mit.edu	37	7	48443368	48443368	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:48443368A>T	ENST00000435803.1	+	39	11986	c.11962A>T	c.(11962-11964)Att>Ttt	p.I3988F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3988	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCTTGGCATTGCTTTCAT	0.537000													13	32					0	0	0.001368	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998429	27998429	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:27998429A>G	ENST00000441525.1	-	1	1137	c.1023T>C	c.(1021-1023)tcT>tcC	p.S341S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	341										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAGGATTCATAGAGATTGTAT	0.403000													7	13					0	0	0.001984	0	0
SYT10	341359	broad.mit.edu	37	12	33559808	33559808	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:33559808C>A	ENST00000228567.3	-	3	1289	c.993G>T	c.(991-993)ggG>ggT	p.G331G	SYT10_ENST00000535526.1_Silent_p.G150G	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	331	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAATCACTTCCCCAATCATGT	0.363000													23	25					2.98393e-07	3.41095e-07	0.002780	1	0
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388000													13	26					1.61879e-10	1.99556e-10	0.001368	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72152348	72152348	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72152348G>C	ENST00000555818.1	+	10	3722	c.3374_splice	c.e10+1	p.R1125_splice	SIPA1L1_ENST00000381232.3_Splice_Site_p.R1125_splice|SIPA1L1_ENST00000537413.1_Splice_Site_p.R600_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.R1125_splice	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1125					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTAGAGAGGCGGTAAGTGTGC	0.502000													8	34					0	0	0.003080	0	0
OR4D11	219986	broad.mit.edu	37	11	59271521	59271521	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59271521T>A	ENST00000313253.1	+	1	473	c.473T>A	c.(472-474)gTg>gAg	p.V158E		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CACTCCATCGTGCAGATCTCC	0.547000													117	86					0	0	0.003610	0	0
CRYGS	1427	broad.mit.edu	37	3	186257313	186257313	+	Missense_Mutation	SNP	G	G	T	rs148842396		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:186257313G>T	ENST00000392499.2	-	3	434	c.95C>A	c.(94-96)aCa>aAa	p.T32K	CRYGS_ENST00000307944.5_Missense_Mutation_p.T32K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	32	Beta/gamma crystallin 'Greek key' 1.			T -> M (in Ref. 2; AA sequence).			structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		ACTTAGGTATGTGTGGAAATC	0.453000													31	74					3.99451e-17	5.63071e-17	0.009535	1	0
DPY19L4	286148	broad.mit.edu	37	8	95746894	95746894	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:95746894G>T	ENST00000414645.2	+	3	263	c.164G>T	c.(163-165)gGc>gTc	p.G55V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	55						integral to membrane		p.G55D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTCATTGGCTGTCTTGCA	0.338000													9	16					2.17888e-05	2.37202e-05	0.006214	1	0
MAGEE1	57692	broad.mit.edu	37	X	75649313	75649313	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:75649313C>T	ENST00000361470.2	+	1	1268	c.990C>T	c.(988-990)acC>acT	p.T330T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	330	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GACTGAGCACCTCCGTGCCGC	0.706000													15	3					0	0	0.004007	0	0
PCDH20	64881	broad.mit.edu	37	13	61986284	61986284	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:61986284C>T	ENST00000409186.1	-	5	4053	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E650K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	623	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGAAAGTTTTCAGGCACAAAA	0.478000													23	10					0	0	0.003330	0	0
WDR64	128025	broad.mit.edu	37	1	241943305	241943305	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:241943305G>C	ENST00000366552.2	+	21	2713		c.e21-1		WDR64_ENST00000437684.2_Splice_Site	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATTTTATACAGAAGGACATGT	0.284000													8	2					0	0	0.008291	0	0
CEP170B	283638	broad.mit.edu	37	14	105353403	105353403	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353403C>T	ENST00000453495.1	+	12	3058	c.2830C>T	c.(2830-2832)Ccg>Tcg	p.P944S	CEP170B_ENST00000414716.3_Missense_Mutation_p.P943S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P873S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P873S					centrosomal protein 170B																		GGGCAGCACCCCGAGGCCGCC	0.687000													11	14					0	0	0.002299	0	0
SYDE2	84144	broad.mit.edu	37	1	85655845	85655845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:85655845C>A	ENST00000341460.5	-	2	1385	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	446					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTGGAATGGGCAGGATGTATA	0.453000													86	63					5.52753e-52	1.03051e-51	0.003610	1	0
NLRP10	338322	broad.mit.edu	37	11	7982249	7982249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:7982249G>T	ENST00000328600.2	-	2	1071	c.910C>A	c.(910-912)Ctg>Atg	p.L304M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	304	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTGTTTCAGCAAGGGCTCC	0.552000													83	19					2.35699e-46	4.32444e-46	0.003610	1	0
CDC5L	988	broad.mit.edu	37	6	44390392	44390392	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:44390392C>G	ENST00000371477.3	+	10	1549	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	417	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGACTCCTTCTAATGGAGCT	0.408000													28	83					0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13769204	13769204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:13769204C>A	ENST00000265104.4	-	58	9866	c.9762G>T	c.(9760-9762)aaG>aaT	p.K3254N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3254	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)					CAGCCTTGACCTTTTCAGCAG	0.423000									Kartagener syndrome				158	354					8.61383e-77	1.64972e-76	0.003610	1	0
ACKR3	57007	broad.mit.edu	37	2	237489245	237489245	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:237489245C>A	ENST00000272928.3	+	2	447	c.137C>A	c.(136-138)aCg>aAg	p.T46K		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CTGCTCTACACGCTCTCCTTC	0.527000													17	10					3.45872e-05	3.74663e-05	0.004007	1	0
FGF10	2255	broad.mit.edu	37	5	44388620	44388620	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:44388620G>A	ENST00000264664.4	-	1	279	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	55	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGAGAAGGAGGAGGAAGAAG	0.537000													57	32					0	0	0.003610	0	0
IGSF22	283284	broad.mit.edu	37	11	18740226	18740226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18740226G>T	ENST00000513874.1	-	8	885	c.746C>A	c.(745-747)aCc>aAc	p.T249N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	249	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GACCACTGTGGTGTCAACCTT	0.478000													125	32					2.70824e-66	5.15169e-66	0.003610	1	0
WNT10B	7480	broad.mit.edu	37	12	49361986	49361986	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:49361986C>G	ENST00000301061.4	-	4	802	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	WNT10B_ENST00000407467.1_Missense_Mutation_p.G152R|WNT10B_ENST00000403957.1_Splice_Site_p.G152_splice	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	152					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCCTGCTCACCACTGCCCTTC	0.637000													36	10					0	0	0.005524	0	0
KNDC1	85442	broad.mit.edu	37	10	135000110	135000110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:135000110C>T	ENST00000304613.3	+	6	1279	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q420*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q355*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	420					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGTGAAGCCCAGACTCCCAG	0.657000													30	8					0	0	0.004289	0	0
PXT1	222659	broad.mit.edu	37	6	36359620	36359620	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:36359620T>C	ENST00000454782.2	-	5	815	c.332A>G	c.(331-333)gAt>gGt	p.D111G	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	28						peroxisome											GACAAAATGATCTAGTGCATC	0.343000													26	90					0	0	0.002096	0	0
UNC5B	219699	broad.mit.edu	37	10	73050686	73050686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:73050686G>T	ENST00000335350.6	+	9	1530	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W	UNC5B_ENST00000373192.4_Missense_Mutation_p.G361W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	372					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						GGAGGCCTCAGGGGATGCGGC	0.672000													131	38					3.83742e-62	7.27149e-62	0.003610	1	0
HSPH1	10808	broad.mit.edu	37	13	31724221	31724221	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:31724221C>A	ENST00000320027.5	-	8	1351	c.1007G>T	c.(1006-1008)aGt>aTt	p.S336I	HSPH1_ENST00000380406.5_Missense_Mutation_p.S295I|HSPH1_ENST00000445273.2_Missense_Mutation_p.S338I|HSPH1_ENST00000429785.2_Missense_Mutation_p.S155I|HSPH1_ENST00000380405.4_Missense_Mutation_p.S336I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	336					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTCAACTGCACTCACATCTTC	0.398000													21	15					0.00121646	0.0012654	0.008871	1	0
NTNG2	84628	broad.mit.edu	37	9	135073628	135073628	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:135073628C>A	ENST00000393229.3	+	3	1265	c.489C>A	c.(487-489)ccC>ccA	p.P163P	NTNG2_ENST00000372179.3_Silent_p.P163P|NTNG2_ENST00000393228.4_Silent_p.P163P|NTNG2_ENST00000360670.3_Silent_p.P163P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	163	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)		CCTGGCAGCCCTACCAGTTCT	0.677000													30	9					2.47511e-08	2.90537e-08	0.008361	1	0
ANXA13	312	broad.mit.edu	37	8	124747998	124747998	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:124747998C>A	ENST00000262219.6	-	2	202	c.135G>T	c.(133-135)caG>caT	p.Q45H	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCTTACAGGCTGTGGGGCCT	0.557000													26	34					3.99451e-17	5.63071e-17	0.009535	1	0
SETD1A	9739	broad.mit.edu	37	16	30990664	30990664	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30990664C>T	ENST00000262519.8	+	14	4243	c.3557C>T	c.(3556-3558)cCg>cTg	p.P1186L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1186	Pro-rich.				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						CCAGCCACACCGCCGCAGGCC	0.687000													12	29					0	0	0.003163	0	0
COL19A1	1310	broad.mit.edu	37	6	70909428	70909428	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:70909428C>G	ENST00000322773.4	+	49	3313	c.3211C>G	c.(3211-3213)Cct>Gct	p.P1071A	COL19A1_ENST00000393344.1_Missense_Mutation_p.P693A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1071	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACCAGGAGACCCTGGACCCCA	0.473000													49	18					0	0	0.003610	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388940	46388940	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:46388940G>T	ENST00000302165.3	-	1	436	c.93C>A	c.(91-93)gcC>gcA	p.A31A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCGACACACGGCCTCGCTGA	0.697000													13	1					9.31168e-06	1.01992e-05	0.001855	1	0
AP4B1	10717	broad.mit.edu	37	1	114442706	114442706	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114442706T>A	ENST00000369569.1	-	5	1214	c.934A>T	c.(934-936)Agc>Tgc	p.S312C	AP4B1_ENST00000369566.3_Missense_Mutation_p.S219C|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.S312C|AP4B1_ENST00000369567.1_Missense_Mutation_p.S144C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	312					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTGGCTGCTAAAGTGACCT	0.468000													64	78					0	0	0.003610	0	0
CSE1L	1434	broad.mit.edu	37	20	47675016	47675016	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:47675016G>T	ENST00000262982.2	+	2	139	c.16G>T	c.(16-18)Gca>Tca	p.A6S	CSE1L_ENST00000396192.3_Missense_Mutation_p.A6S|CSE1L_ENST00000542325.1_5'UTR	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	6					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACTCAGCGATGCAAATCTGCA	0.333000													56	11					4.48484e-38	7.9753e-38	0.003610	1	0
MYH1	4619	broad.mit.edu	37	17	10406204	10406204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10406204C>A	ENST00000226207.5	-	24	3056	c.2962G>T	c.(2962-2964)Ggt>Tgt	p.G988C	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	988						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						TCATCCAGACCCGCCATCTCT	0.507000													42	183					2.35958e-20	3.54208e-20	0.009718	1	0
DOCK2	1794	broad.mit.edu	37	5	169507216	169507216	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:169507216C>A	ENST00000256935.8	+	50	5296	c.5216C>A	c.(5215-5217)gCg>gAg	p.A1739E	DOCK2_ENST00000540750.1_Missense_Mutation_p.A800E|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1231E|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					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)			TCGGAGCATGCGGCCATCCCC	0.557000													40	13					1.15183e-24	1.84763e-24	0.009718	1	0
IFT172	26160	broad.mit.edu	37	2	27699522	27699522	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27699522T>C	ENST00000260570.3	-	14	1500	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	IFT172_ENST00000416524.2_Missense_Mutation_p.K445R|IFT172_ENST00000359466.6_Missense_Mutation_p.K466R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	466					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGCAATAGTCTTAATATCAAT	0.348000													24	52					0	0	0.005443	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403382	144403382	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144403382C>T	ENST00000523676.1	-	9	1246	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	TOP1MT_ENST00000521193.1_Missense_Mutation_p.V281M|TOP1MT_ENST00000329245.4_Missense_Mutation_p.V379M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.V281M			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	379					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-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)		Irinotecan(DB00762)|Topotecan(DB01030)	GGCTTCTCCACCGGCACTCTG	0.637000													7	3					0	0	0.001984	0	0
FRAS1	80144	broad.mit.edu	37	4	79188481	79188481	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:79188481G>T	ENST00000264895.6	+	9	1316	c.876G>T	c.(874-876)cgG>cgT	p.R292R	FRAS1_ENST00000325942.6_Silent_p.R292R|FRAS1_ENST00000264899.6_Silent_p.R292R	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	292	VWFC 5.				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						GAGTTGTGCGGTACCAGGACG	0.572000													10	12					1.76689e-08	2.07777e-08	0.006214	1	0
PDE3A	5139	broad.mit.edu	37	12	20769266	20769266	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:20769266G>T	ENST00000359062.3	+	4	1412	c.1372G>T	c.(1372-1374)Gta>Tta	p.V458L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	458					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCTGCACCAGTACGGAGAGA	0.547000													44	43					1.63429e-32	2.817e-32	0.003610	1	0
NOBOX	135935	broad.mit.edu	37	7	144096865	144096865	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:144096865G>T	ENST00000467773.1	-	6	1138	c.1139C>A	c.(1138-1140)gCc>gAc	p.A380D	NOBOX_ENST00000223140.5_Missense_Mutation_p.A263D|NOBOX_ENST00000483238.1_Missense_Mutation_p.A348D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	380					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTGACTGCTGGCAGGGCCAGG	0.537000													13	2					4.3838e-07	4.97067e-07	0.001855	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540099	133540099	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133540099C>A	ENST00000409261.1	-	14	4658	c.4285G>T	c.(4285-4287)Ggg>Tgg	p.G1429W	NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1429W|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1429							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAGTCCTCCCTGGGCTCTGC	0.577000													31	25					2.08457e-15	2.84062e-15	0.002096	1	0
WDR49	151790	broad.mit.edu	37	3	167319990	167319990	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:167319990C>A	ENST00000308378.3	-	3	482	c.177G>T	c.(175-177)tgG>tgT	p.W59C	WDR49_ENST00000479765.1_Missense_Mutation_p.W400C|WDR49_ENST00000453925.2_Missense_Mutation_p.W112C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	59										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						CTGAGTGGCCCCAAAGGACAC	0.373000													11	39					1.58986e-06	1.77505e-06	0.008291	1	0
PARP3	10039	broad.mit.edu	37	3	51979203	51979203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:51979203C>A	ENST00000417220.2	+	7	1312	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	PARP3_ENST00000431474.1_Missense_Mutation_p.S275Y|PARP3_ENST00000398755.3_Missense_Mutation_p.S282Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	275	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCATCAATTCCCCTGAGCTT	0.642000													66	18					1.19759e-16	1.67254e-16	0.003610	1	0
STAC2	342667	broad.mit.edu	37	17	37371051	37371051	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:37371051C>A	ENST00000333461.5	-	7	1205	c.836G>T	c.(835-837)gGa>gTa	p.G279V		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	279					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CACCTGCTGTCCAGGACTCTT	0.582000													31	8					1.80694e-10	2.22471e-10	0.009535	1	0
KDM5A	5927	broad.mit.edu	37	12	419077	419077	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:419077C>T	ENST00000399788.2	-	22	3632	c.3270G>A	c.(3268-3270)agG>agA	p.R1090R	KDM5A_ENST00000382815.4_Silent_p.R1090R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1090					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTACTTTTTTCCTCCTATTTT	0.403000			T	NUP98	AML								37	7					0	0	0.004878	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905527	144905527	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:144905527G>T	ENST00000370490.1	+	1	5839	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E528D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	528						integral to membrane		p.E528D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCAGGAGAACCCCTGGG	0.507000													26	5					5.61819e-17	7.89116e-17	0.005443	1	0
OR9I1	219954	broad.mit.edu	37	11	57886019	57886019	+	Missense_Mutation	SNP	C	C	A	rs147763350		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:57886019C>A	ENST00000302610.1	-	1	897	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTTCTGAAGGCGTCTTTTACA	0.428000													44	124					1.00776e-21	1.54586e-21	0.003610	1	0
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:1460007G>T	ENST00000345913.4	+	7	863	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	TPO_ENST00000382201.3_Missense_Mutation_p.D258Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.D258Y|TPO_ENST00000349624.3_Missense_Mutation_p.D258Y|TPO_ENST00000346956.3_Missense_Mutation_p.D258Y|TPO_ENST00000337415.3_Missense_Mutation_p.D258Y|TPO_ENST00000329066.4_Missense_Mutation_p.D258Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463000													19	11					3.51602e-12	4.48635e-12	0.008871	1	0
TRIM9	114088	broad.mit.edu	37	14	51475904	51475904	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:51475904C>A	ENST00000298355.3	-	5	2321	c.1200G>T	c.(1198-1200)tgG>tgT	p.W400C	TRIM9_ENST00000360392.4_Missense_Mutation_p.W400C|TRIM9_ENST00000338969.5_Missense_Mutation_p.W400C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	400	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGCCTTTACCCCACTGATCCT	0.493000													22	44					3.10358e-05	3.36936e-05	0.002299	1	0
NLRP1	22861	broad.mit.edu	37	17	5418227	5418227	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:5418227G>T	ENST00000345221.3	-	16	4691	c.4137C>A	c.(4135-4137)ccC>ccA	p.P1379P	NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Silent_p.P1393P|NLRP1_ENST00000269280.4_Silent_p.P1379P|NLRP1_ENST00000577119.1_Silent_p.P1349P|NLRP1_ENST00000572272.1_Silent_p.P1423P	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1423	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCTGGCTGGGCCTCGTGT	0.572000													20	33					8.34094e-07	9.36033e-07	0.008871	1	0
DOCK8	81704	broad.mit.edu	37	9	404959	404959	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:404959G>A	ENST00000432829.2	+	27	3388	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I	DOCK8_ENST00000469391.1_Missense_Mutation_p.M992I|DOCK8_ENST00000382329.1_Missense_Mutation_p.M559I|DOCK8_ENST00000453981.1_Missense_Mutation_p.M1092I|DOCK8_ENST00000382331.1_Missense_Mutation_p.M394I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1092					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCATTTCCATGAGGCTAGAGT	0.418000													35	8					0	0	0.007835	0	0
ABCG2	9429	broad.mit.edu	37	4	89020572	89020572	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:89020572C>T	ENST00000237612.3	-	12	1941	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	ABCG2_ENST00000515655.1_Missense_Mutation_p.V466M	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	466	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAAGATGACACTCTGTAGTAT	0.353000													12	13					0	0	0.000978	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907569	12907569	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:12907569G>T	ENST00000317869.6	-	2	799	c.574C>A	c.(574-576)Cag>Aag	p.Q192K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCACTTTCTGTTTTATCTGG	0.433000													60	398					7.65386e-43	1.39e-42	0.003610	1	0
KCNH8	131096	broad.mit.edu	37	3	19479673	19479673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:19479673G>T	ENST00000328405.2	+	8	1461	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*	KCNH8_ENST00000537696.1_Nonsense_Mutation_p.G40*	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	399						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCATGAGTTGGGAAAGAGACT	0.443000													186	32					1.2754e-92	2.45944e-92	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108487786	108487786	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:108487786G>C	ENST00000408999.3	+	20	3403	c.3326G>C	c.(3325-3327)tGt>tCt	p.C1109S	RGPD4_ENST00000354986.4_Missense_Mutation_p.C1109S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1109	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTAAAAGTGTGTGCTAATCAT	0.443000													215	100					0	0	0.003610	0	0
TCL6	27004	broad.mit.edu	37	14	96135931	96135931	+	RNA	SNP	G	G	A	rs145339687	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:96135931G>A	ENST00000467865.1	+	0	1865				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		aaggagaggggaccatgcaaa	0.473000			T	TRA@	T-ALL								10	19					0	0	0.001855	0	0
COL20A1	57642	broad.mit.edu	37	20	61937381	61937381	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61937381G>C	ENST00000422202.1	+	4	554	c.486G>C	c.(484-486)ccG>ccC	p.P162P	COL20A1_ENST00000326996.6_Silent_p.P162P|COL20A1_ENST00000358894.6_Silent_p.P162P|COL20A1_ENST00000435874.1_Silent_p.P162P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	162					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCAGGATCCGCGCACTCCTG	0.627000													13	62					0	0	0.001855	0	0
FSTL5	56884	broad.mit.edu	37	4	162577480	162577480	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:162577480A>G	ENST00000306100.5	-	7	1330	c.894_splice	c.e7+1	p.N298_splice	FSTL5_ENST00000536695.1_Splice_Site_p.N297_splice|FSTL5_ENST00000379164.4_Splice_Site_p.N297_splice|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Splice_Site_p.N297_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	298	Ig-like 1.					extracellular region	calcium ion binding	p.N298N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTACTCACATTGATGTCTT	0.348000													3	8					0	0	0.004672	0	0
TMEM2	23670	broad.mit.edu	37	9	74337423	74337423	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:74337423T>A	ENST00000377044.4	-	12	2726	c.2187A>T	c.(2185-2187)ttA>ttT	p.L729F	TMEM2_ENST00000377066.5_Missense_Mutation_p.L666F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	729						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTCAATAAATAAGCCAGCCT	0.353000													23	8					0	0	0.004656	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520510	33520510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33520510C>A	ENST00000297307.5	-	1	902	c.817G>T	c.(817-819)Gcg>Tcg	p.A273S		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	273	DUF6 2.					integral to membrane											TTGGTGACCGCATAGCCCACA	0.592000													127	84					9.79165e-58	1.84297e-57	0.003610	1	0
SLC5A6	8884	broad.mit.edu	37	2	27430140	27430140	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27430140T>A	ENST00000310574.3	-	3	852	c.379A>T	c.(379-381)Acc>Tcc	p.T127S	SLC5A6_ENST00000408041.1_Missense_Mutation_p.T127S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	127					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)	TAGGCACTGGTGAGATGCAGG	0.577000													15	35					0	0	0.003163	0	0
STK11IP	114790	broad.mit.edu	37	2	220476523	220476523	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220476523A>T	ENST00000456909.1	+	18	2392	c.2302A>T	c.(2302-2304)Acc>Tcc	p.T768S	STK11IP_ENST00000295641.10_Missense_Mutation_p.T779S			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	779					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCACCGAGCACCCGTGACCA	0.597000													9	18					0	0	0.004482	0	0
FOXG1	2290	broad.mit.edu	37	14	29237673	29237673	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:29237673C>T	ENST00000382535.3	+	2	1557	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	FOXG1_ENST00000313071.4_Silent_p.C396C			P55316	FOXG1_HUMAN	forkhead box G1	396	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGTGCCCTGCTCTGGGACCT	0.682000													18	3					0	0	0.008871	0	0
CCNB3	85417	broad.mit.edu	37	X	50053609	50053609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:50053609G>T	ENST00000376042.1	+	6	2738	c.2440G>T	c.(2440-2442)Gct>Tct	p.A814S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A814S			Q8WWL7	CCNB3_HUMAN	cyclin B3	814					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGAGAAGGAAGCTGTCCTCAA	0.567000													8	2					2.17888e-05	2.37202e-05	0.006214	1	0
C14orf166B	145497	broad.mit.edu	37	14	77294790	77294790	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:77294790G>A	ENST00000216453.5	+	1	116	c.116G>A	c.(115-117)aGg>aAg	p.R39K	C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000460005.1_3'UTR			Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	0										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGGGCAGTCAGGGCAGCTTCT	0.552000													26	39					0	0	0.007291	0	0
METTL22	79091	broad.mit.edu	37	16	8722679	8722679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:8722679G>T	ENST00000381920.3	+	3	484	c.226G>T	c.(226-228)Gag>Tag	p.E76*	METTL22_ENST00000561758.1_Nonsense_Mutation_p.E76*	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	76							methyltransferase activity			large_intestine(5)|lung(4)	9						TCACACAAAGGAGCCTCCTTC	0.552000													14	39					2.23348e-06	2.47815e-06	0.004007	1	0
LRP1B	53353	broad.mit.edu	37	2	141526841	141526841	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141526841A>C	ENST00000389484.3	-	35	6670	c.5699T>G	c.(5698-5700)aTg>aGg	p.M1900R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1900					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)		CAAAGCATCCATTTTGTCACT	0.383000										TSP Lung(27;0.18)			24	22					0	0	0.003954	0	0
RAE1	8480	broad.mit.edu	37	20	55929848	55929848	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:55929848T>A	ENST00000395841.2	+	3	591	c.171T>A	c.(169-171)ctT>ctA	p.L57L	RAE1_ENST00000527947.1_Silent_p.L57L|RAE1_ENST00000371242.2_Silent_p.L57L|RAE1_ENST00000395840.2_Silent_p.L57L	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	57					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGAACTTTCTTATTGCAGGAT	0.418000													19	64					0	0	0.002780	0	0
OR5M8	219484	broad.mit.edu	37	11	56258458	56258458	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56258458A>T	ENST00000327216.2	-	1	413	c.389T>A	c.(388-390)cTt>cAt	p.L130H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCTGCCATAAAGCAGAGGGTT	0.517000													53	48					0	0	0.003610	0	0
ITGAX	3687	broad.mit.edu	37	16	31382974	31382974	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31382974T>A	ENST00000268296.4	+	17	2150	c.2029T>A	c.(2029-2031)Ttg>Atg	p.L677M	ITGAX_ENST00000562522.1_Missense_Mutation_p.L677M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	677					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						CTCTGTGACCTTGGACCTGGC	0.637000													32	38					0	0	0.004289	0	0
HEG1	57493	broad.mit.edu	37	3	124746174	124746174	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124746174A>T	ENST00000311127.4	-	3	855	c.788T>A	c.(787-789)cTt>cAt	p.L263H		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	263						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						CAAAGCAGGAAGAAAGGACGG	0.562000													18	8					0	0	0.002299	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43709705	43709705	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43709705C>A	ENST00000377564.3	+	2	534	c.141C>A	c.(139-141)tcC>tcA	p.S47S	CNTNAP3B_ENST00000276974.6_Silent_p.S47S	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	47	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TCAGCAGCTCCTCAGAGCTGT	0.517000													28	8					2.20474e-14	2.92131e-14	0.003755	1	0
LEF1	51176	broad.mit.edu	37	4	108991910	108991910	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:108991910C>A	ENST00000379951.2	-	8	2129	c.941G>T	c.(940-942)cGt>cTt	p.R314L	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000265165.1_Missense_Mutation_p.R342L|LEF1_ENST00000438313.2_Missense_Mutation_p.R314L|LEF1_ENST00000510624.1_Missense_Mutation_p.R246L	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	342					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTGCTCTTCACGGGAGAGGGC	0.373000													19	29					5.03518e-11	6.278e-11	0.007413	1	0
CREB5	9586	broad.mit.edu	37	7	28857757	28857757	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:28857757C>A	ENST00000357727.2	+	10	1714	c.1324C>A	c.(1324-1326)Cca>Aca	p.P442T	CREB5_ENST00000409603.1_Missense_Mutation_p.P409T|CREB5_ENST00000396300.2_Missense_Mutation_p.P435T|CREB5_ENST00000396298.2_Missense_Mutation_p.P303T|CREB5_ENST00000396299.2_Missense_Mutation_p.P409T	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	442					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TAAAGACTGCCCAATAACAGC	0.358000													62	37					7.577e-32	1.30147e-31	0.003610	1	0
TAF2	6873	broad.mit.edu	37	8	120810006	120810006	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:120810006A>G	ENST00000378164.2	-	7	1171	c.873T>C	c.(871-873)taT>taC	p.Y291Y		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	291					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAATTTCTTCATAAAATTCAA	0.373000													5	15					0	0	0.001984	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431656	89431656	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:89431656T>C	ENST00000532352.1	+	0	1938							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTCTGTTTGATATTGAAAGCA	0.473000													52	29					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67079063	67079063	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:67079063C>G	ENST00000284425.2	-	36	4741	c.4567G>C	c.(4567-4569)Gtc>Ctc	p.V1523L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1523					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCAGTGTGGACCAAAGTCACT	0.453000													140	47					0	0	0.003610	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708535	108708535	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:108708535A>G	ENST00000218006.2	-	3	1159	c.868T>C	c.(868-870)Tat>Cat	p.Y290H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	290					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						GTGTGCTTATAAGGTAAACTG	0.468000													55	12					0	0	0.003610	0	0
MSH4	4438	broad.mit.edu	37	1	76345766	76345766	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76345766C>G	ENST00000263187.3	+	13	1813	c.1709C>G	c.(1708-1710)aCa>aGa	p.T570R		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	570					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TACAGCTTTACATCAGCAGAT	0.269000								Mismatch excision repair (MMR)					5	20					0	0	0.001168	0	0
TRIM29	23650	broad.mit.edu	37	11	120008389	120008389	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120008389T>A	ENST00000341846.5	-	1	772	c.351A>T	c.(349-351)ccA>ccT	p.P117P		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	117					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGGTAACGGGTGGCTTCTTGG	0.617000													153	166					0	0	0.003610	0	0
OR10J3	441911	broad.mit.edu	37	1	159283519	159283519	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159283519C>A	ENST00000332217.5	-	1	930	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATTAAGGAGACAGAGTTTTTT	0.423000													25	35					2.98393e-07	3.41095e-07	0.002780	1	0
CDH20	28316	broad.mit.edu	37	18	59221904	59221904	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:59221904G>T	ENST00000262717.4	+	12	2780	c.2382G>T	c.(2380-2382)tcG>tcT	p.S794S	CDH20_ENST00000536675.2_Silent_p.S794S|CDH20_ENST00000538374.1_Silent_p.S794S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	794					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACGGGGCGTCGGAGGGACCCG	0.692000													5	0					0.000602214	0.000631121	0.000602	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746229	77746229	+	Missense_Mutation	SNP	G	G	T	rs144196554	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:77746229G>T	ENST00000409088.3	-	3	1180	c.766C>A	c.(766-768)Cac>Aac	p.H256N	LRRTM4_ENST00000409093.1_Missense_Mutation_p.H256N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H257N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.H256N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H257N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	256						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAAGTTGTGTAAGGAACTC	0.418000													6	14					5.9392e-07	6.69566e-07	0.001168	1	0
PAK7	57144	broad.mit.edu	37	20	9546915	9546915	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:9546915G>T	ENST00000378429.3	-	6	1653	c.1107C>A	c.(1105-1107)agC>agA	p.S369R	PAK7_ENST00000378423.1_Missense_Mutation_p.S369R|PAK7_ENST00000353224.5_Missense_Mutation_p.S369R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	369	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTGGTGACTGCTTGAGGAAT	0.567000													92	59					1.05875e-55	1.98137e-55	0.003610	1	0
SLC45A2	51151	broad.mit.edu	37	5	33982417	33982417	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33982417G>T	ENST00000382102.3	-	2	543	c.486C>A	c.(484-486)ccC>ccA	p.P162P	SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Silent_p.P162P|SLC45A2_ENST00000509381.1_Silent_p.P162P|SLC45A2_ENST00000345083.5_Silent_p.P162P	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	162					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGCTTTGATGGGCCCATCAA	0.483000													25	71					4.72057e-08	5.49522e-08	0.003954	1	0
TF	7018	broad.mit.edu	37	3	133485178	133485178	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:133485178C>A	ENST00000402696.3	+	12	1872	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	TF_ENST00000264998.3_Missense_Mutation_p.L336M	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	463	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGGGACAATCTGAAAGGCAA	0.488000													65	139					7.82978e-24	1.24177e-23	0.003610	1	0
APOB	338	broad.mit.edu	37	2	21230918	21230918	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:21230918G>A	ENST00000233242.1	-	26	8949	c.8822C>T	c.(8821-8823)aCa>aTa	p.T2941I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2941					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)	TGATTCATGTGTTCCCTCATC	0.438000													92	73					0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149247151	149247151	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:149247151C>T	ENST00000407073.1	+	12	4248	c.3251C>T	c.(3250-3252)tCc>tTc	p.S1084F	MBD5_ENST00000404807.1_Missense_Mutation_p.S1317F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1084						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGTGATGCTTCCGTAGATGCC	0.502000													43	80					0	0	0.002852	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034179	52034179	+	Splice_Site	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:52034179C>T	ENST00000391797.3	-	3	583	c.427_splice	c.e3-1	p.G143_splice	SIGLEC6_ENST00000436458.1_Silent_p.G118G|SIGLEC6_ENST00000359982.4_Silent_p.G154G|SIGLEC6_ENST00000346477.3_Silent_p.G154G|SIGLEC6_ENST00000425629.3_Silent_p.G154G|SIGLEC6_ENST00000343300.4_Silent_p.G154G			O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	154					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACTCCAGGGTCCCTGGGATGG	0.637000													79	64					0	0	0.003610	0	0
ABCC1	4363	broad.mit.edu	37	16	16146667	16146667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:16146667G>T	ENST00000399408.2	+	11	1642	c.1467G>T	c.(1465-1467)acG>acT	p.T489T	ABCC1_ENST00000345148.5_Silent_p.T489T|ABCC1_ENST00000351154.5_Silent_p.T489T|ABCC1_ENST00000346370.5_Silent_p.T489T|ABCC1_ENST00000399410.3_Silent_p.T489T|ABCC1_ENST00000349029.5_Silent_p.T489T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	489	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGACCAAGACGTATCAGGTAA	0.582000													42	62					5.20006e-24	8.26709e-24	0.002852	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593389	3593389	+	Missense_Mutation	SNP	G	G	A	rs143709684	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3593389G>A	ENST00000550383.1	-	6	777	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	P2RX5_ENST00000345901.3_Missense_Mutation_p.R173C|P2RX5_ENST00000551178.1_Missense_Mutation_p.R173C|P2RX5_ENST00000547178.1_Missense_Mutation_p.R197C|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000435558.1_Missense_Mutation_p.R197C|P2RX5_ENST00000552276.1_Missense_Mutation_p.R197C|P2RX5_ENST00000552050.1_Missense_Mutation_p.R137C|P2RX5_ENST00000225328.5_Missense_Mutation_p.R197C																							TTGGGGAAACGGATGTGGTTC	0.587000													142	138					0	0	0.003610	0	0
AGPAT5	55326	broad.mit.edu	37	8	6614774	6614774	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:6614774G>T	ENST00000285518.6	+	8	1272	c.960G>T	c.(958-960)aaG>aaT	p.K320N		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	320					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GTATCAAGAAGACTTTACCAT	0.393000													18	5					1.45105e-14	1.92657e-14	0.006122	1	0
RDH5	5959	broad.mit.edu	37	12	56117674	56117674	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:56117674G>A	ENST00000257895.5	+	4	726	c.574G>A	c.(574-576)Gat>Aat	p.D192N	RDH5_ENST00000548082.1_Missense_Mutation_p.D192N|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.D95N	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	192					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CTCTAGGCGGGATGTAGCTCA	0.567000													35	9					0	0	0.004289	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750498	55750498	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55750498G>T	ENST00000455909.1	-	0	719					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						ATGCCACCTGGGCGTGAATGT	0.532000													39	69					6.60958e-23	1.03242e-22	0.003610	1	0
HAP1	9001	broad.mit.edu	37	17	39883375	39883375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39883375C>A	ENST00000393939.2	-	8	1231	c.1222G>T	c.(1222-1224)Gag>Tag	p.E408*	HAP1_ENST00000310778.5_Nonsense_Mutation_p.E485*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E416*|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E433*|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	410	Glu-rich.|HAP1 N-terminal.		L -> F (in dbSNP:rs35612698).		brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCAGCGTCTCCTGGAAACCA	0.572000													15	4					6.81908e-15	9.19032e-15	0.002450	1	0
CTSG	1511	broad.mit.edu	37	14	25043928	25043928	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:25043928G>T	ENST00000216336.2	-	3	328	c.292C>A	c.(292-294)Cct>Act	p.P98T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	98	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTATATTGAGGGTGGCGGATG	0.527000													42	6					9.73076e-26	1.57763e-25	0.006999	1	0
SERPINB7	8710	broad.mit.edu	37	18	61465858	61465858	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61465858G>T	ENST00000398019.2	+	6	800	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	SERPINB7_ENST00000546027.1_Missense_Mutation_p.G159C|SERPINB7_ENST00000540675.1_Missense_Mutation_p.G142C|SERPINB7_ENST00000336429.2_Missense_Mutation_p.G159C	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	159					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)				GAACGTGATTGGTGAAGGTGG	0.338000													24	8					4.47668e-21	6.81384e-21	0.003954	1	0
OR8H3	390152	broad.mit.edu	37	11	55890462	55890462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55890462C>A	ENST00000313472.3	+	1	614	c.614C>A	c.(613-615)tCc>tAc	p.S205Y		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCGCTGGTTCCACCCTGATG	0.408000													65	66					2.54232e-27	4.1945e-27	0.003610	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907028	164907028	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:164907028G>C	ENST00000475390.1	-	2	2034	c.1591C>G	c.(1591-1593)Cgg>Ggg	p.R531G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R531G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	531						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGTTGAGCCGGGCCAGGGAT	0.507000										HNSCC(40;0.11)			8	26					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21338378	21338378	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:21338378G>A	ENST00000313654.9	+	7	1207	c.966G>A	c.(964-966)caG>caA	p.Q322Q	LAMA3_ENST00000399516.3_Silent_p.Q322Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	322	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGAATGCCAGCACCACACCT	0.557000													30	3					0	0	0.009535	0	0
P2RY14	9934	broad.mit.edu	37	3	150931951	150931951	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:150931951T>C	ENST00000309170.3	-	3	466	c.154A>G	c.(154-156)Agc>Ggc	p.S52G	P2RY14_ENST00000424796.2_Missense_Mutation_p.S52G|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	52						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTTAGAGCTGGGCACGTAA	0.438000													43	38					0	0	0.002522	0	0
AHRR	57491	broad.mit.edu	37	5	433020	433020	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:433020G>T	ENST00000316418.5	+	11	1180	c.1136G>T	c.(1135-1137)cGg>cTg	p.R379L	AHRR_ENST00000505113.1_Missense_Mutation_p.R361L|AHRR_ENST00000506456.1_Missense_Mutation_p.R217L|AHRR_ENST00000512529.1_Missense_Mutation_p.R207L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTGTGCCTCCGGGGTGGCCCT	0.672000													22	36					1.50039e-11	1.8887e-11	0.001882	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475165	140475165	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140475165C>G	ENST00000194155.4	+	1	939	c.791C>G	c.(790-792)gCc>gGc	p.A264G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		264	Cadherin 3.				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)			TCCCAGGTTGCCATCGTCTCT	0.468000													35	8					0	0	0.003755	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620697	144620697	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144620697C>A	ENST00000262577.5	-	2	871	c.840G>T	c.(838-840)ggG>ggT	p.G280G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	280					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGCGGGGCCCCCCACTGAGC	0.612000													46	64					2.52991e-16	3.51824e-16	0.003610	1	0
TMEM140	55281	broad.mit.edu	37	7	134849422	134849422	+	Silent	SNP	C	C	A	rs145562868	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:134849422C>A	ENST00000275767.2	+	2	452	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	77						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						GGGGGTGCCTCGGGTTGGCCT	0.612000													88	19					4.066e-59	7.68239e-59	0.003610	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261441	21261441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:21261441C>A	ENST00000311620.5	+	2	627	c.554C>A	c.(553-555)cCt>cAt	p.P185H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	185										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGATCATCCCCTTCAAATGCT	0.473000													22	36					1.22574e-08	1.45008e-08	0.002299	1	0
CDAN1	146059	broad.mit.edu	37	15	43028533	43028533	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43028533G>A	ENST00000356231.3	-	2	559	c.536C>T	c.(535-537)cCt>cTt	p.P179L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	179						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCTACGGGAGGGAACTCCTC	0.667000													21	7					0	0	0.005443	0	0
UBN1	29855	broad.mit.edu	37	16	4924437	4924437	+	Missense_Mutation	SNP	G	G	T	rs150281333		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:4924437G>T	ENST00000396658.4	+	14	2729	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	UBN1_ENST00000545171.1_Missense_Mutation_p.V676L|UBN1_ENST00000262376.6_Missense_Mutation_p.V676L|UBN1_ENST00000590769.1_Missense_Mutation_p.V676L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	676					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGTGGAAGCCGTGTCCAAGGA	0.547000													57	74					3.40343e-31	5.82048e-31	0.003610	1	0
FAT4	79633	broad.mit.edu	37	4	126372061	126372061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126372061G>T	ENST00000394329.3	+	9	9903	c.9890G>T	c.(9889-9891)cGt>cTt	p.R3297L	FAT4_ENST00000335110.5_Missense_Mutation_p.R1595L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3297	Cadherin 31.				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						TATGTGCCCCGTTTTGTTTCC	0.403000													22	19					4.35082e-09	5.19402e-09	0.010504	1	0
PAN3	255967	broad.mit.edu	37	13	28835536	28835536	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:28835536A>G	ENST00000399613.1	+	8	816		c.e8-1		PAN3_ENST00000380958.3_Splice_Site|PAN3_ENST00000282391.5_Splice_Site			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTGTTTCATAGGAGCTGATC	0.294000													11	3					0	0	0.000978	0	0
OR13C2	392376	broad.mit.edu	37	9	107367234	107367234	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107367234G>A	ENST00000542196.1	-	1	717	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TAATTTTGAAGATGCTCACAA	0.408000													59	7					0	0	0.003610	0	0
LPHN2	23266	broad.mit.edu	37	1	82409307	82409307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:82409307G>T	ENST00000370728.1	+	8	1697	c.1052G>T	c.(1051-1053)gGa>gTa	p.G351V	LPHN2_ENST00000335786.5_Missense_Mutation_p.G351V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G351V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G351V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G355V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G351V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G351V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G351V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G351V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.G351V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G351V|LPHN2_ENST00000370730.1_Missense_Mutation_p.G351V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G351V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G351V			O95490	LPHN2_HUMAN	latrophilin 2	351	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTAAACCGAGGAGAATATGTA	0.388000													27	79					2.12542e-12	2.72258e-12	0.006320	1	0
APBA2	321	broad.mit.edu	37	15	29346929	29346929	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29346929C>A	ENST00000558402.1	+	5	1441	c.842C>A	c.(841-843)cCc>cAc	p.P281H	APBA2_ENST00000561069.1_Missense_Mutation_p.P281H|APBA2_ENST00000558330.1_Missense_Mutation_p.P281H|APBA2_ENST00000411764.1_Missense_Mutation_p.P281H|APBA2_ENST00000558259.1_Missense_Mutation_p.P281H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	281					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGCGAGGCCCAAGTCGCTG	0.677000													63	38					9.40535e-28	1.56094e-27	0.003610	1	0
OR4X2	119764	broad.mit.edu	37	11	48267347	48267347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:48267347C>A	ENST00000302329.3	+	1	740	c.692C>A	c.(691-693)aCc>aAc	p.T231N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCCCTCTCCACCTGTGGGTCC	0.522000													50	9					1.61004e-24	2.57213e-24	0.003610	1	0
PTS	5805	broad.mit.edu	37	11	112100953	112100953	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:112100953G>T	ENST00000280362.3	+	3	265	c.186_splice	c.e3+1	p.E62_splice	PTS_ENST00000524931.1_5'UTR|PTS_ENST00000525803.1_Intron	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	62					cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		TACATGGAGAGGTATGTGCAG	0.393000													57	37					1.42676e-28	2.3901e-28	0.003610	1	0
FLNB	2317	broad.mit.edu	37	3	58140568	58140568	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:58140568G>T	ENST00000295956.4	+	40	6850	c.6685G>T	c.(6685-6687)Gct>Tct	p.A2229S	FLNB_ENST00000490882.1_Missense_Mutation_p.A2260S|FLNB_ENST00000429972.2_Missense_Mutation_p.A2218S|FLNB_ENST00000348383.5_Missense_Mutation_p.A2188S|FLNB_ENST00000419752.2_Missense_Mutation_p.A2049S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Missense_Mutation_p.A2205S|FLNB_ENST00000493452.1_Missense_Mutation_p.A2036S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2229	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCTCCATCGCTGTTGAGGG	0.537000													54	8					4.33383e-22	6.71078e-22	0.003610	1	0
PLD1	5337	broad.mit.edu	37	3	171406666	171406666	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:171406666C>A	ENST00000356327.5	-	14	1409	c.1338_splice	c.e14-1	p.V447_splice	PLD1_ENST00000351298.4_Splice_Site_p.V447_splice|PLD1_ENST00000342215.6_Splice_Site_p.V447_splice|PLD1_ENST00000340989.4_Splice_Site_p.V447_splice	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	447					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTCTCATCACCTTGAGAGGG	0.438000													10	23					0.000673444	0.000704267	0.008291	1	0
PKD2L1	9033	broad.mit.edu	37	10	102054763	102054763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:102054763C>T	ENST00000318222.3	-	8	1856	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A417T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A492T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	492					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCGAGTTGGGCATAGGCGAAG	0.547000													44	6					0	0	0.008740	0	0
DUSP27	92235	broad.mit.edu	37	1	167096930	167096930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167096930C>A	ENST00000361200.2	+	6	2728	c.2562C>A	c.(2560-2562)taC>taA	p.Y854*	DUSP27_ENST00000271385.5_Nonsense_Mutation_p.Y854*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.Y854*|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	854					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						TGTCTGAGTACAAAATGGAAA	0.498000													19	15					6.94344e-10	8.41694e-10	0.006122	1	0
TNR	7143	broad.mit.edu	37	1	175335228	175335228	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175335228G>T	ENST00000367674.1	-	11	2808	c.2100C>A	c.(2098-2100)acC>acA	p.T700T	TNR_ENST00000263525.2_Silent_p.T700T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	700	Fibronectin type-III 5.				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)					GGGAGATGGAGGTCTCCGAGG	0.532000													18	31					1.56452e-12	2.00803e-12	0.007413	1	0
CLPS	1208	broad.mit.edu	37	6	35765033	35765033	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:35765033G>T	ENST00000259938.2	-	1	55	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	11					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						CCACAGAGAGGGCGACAAGCA	0.597000													15	126					3.52763e-06	3.90524e-06	0.004990	1	0
TMEM207	131920	broad.mit.edu	37	3	190147424	190147424	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:190147424C>G	ENST00000354905.2	-	5	467	c.401G>C	c.(400-402)gGc>gCc	p.G134A		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	134						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGGGGAGCCTAAAGGGCC	0.408000													36	18					0	0	0.004878	0	0
CSRNP3	80034	broad.mit.edu	37	2	166451578	166451578	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:166451578G>T	ENST00000409420.1	+	2	349	c.99G>T	c.(97-99)atG>atT	p.M33I	CSRNP3_ENST00000342316.4_Start_Codon_SNP_p.M1I|CSRNP3_ENST00000314499.7_Start_Codon_SNP_p.M1I			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	1	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTGCAGCGATGAGTGGAATTT	0.473000													14	26					1.05317e-09	1.27274e-09	0.002450	1	0
MYH8	4626	broad.mit.edu	37	17	10314148	10314148	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10314148C>A	ENST00000403437.2	-	15	1627	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	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	511	Myosin head-like.				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						CAATGAACGTCCACTCGATGC	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				40	125					3.78316e-11	4.73799e-11	0.006230	1	0
CRB2	286204	broad.mit.edu	37	9	126129486	126129486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:126129486G>T	ENST00000373631.3	+	5	791	c.790G>T	c.(790-792)Gag>Tag	p.E264*	CRB2_ENST00000359999.3_Nonsense_Mutation_p.E264*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	264	EGF-like 6.					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						GGACGAGGACGAGTGTGCATC	0.682000													66	11					3.13743e-37	5.54411e-37	0.003610	1	0
TRIP11	9321	broad.mit.edu	37	14	92471709	92471709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:92471709G>A	ENST00000267622.4	-	11	2984	c.2611C>T	c.(2611-2613)Cga>Tga	p.R871*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	871					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCCTGAGTCGTTCCAATTCT	0.413000			T	PDGFRB	AML								29	41					0	0	0.003271	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967175	106967175	+	RNA	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:106967175A>G	ENST00000390622.2	-	0	528																											AGCTTGTGCTACCACCACTAG	0.552000													76	34					0	0	0.003610	0	0
DLL4	54567	broad.mit.edu	37	15	41228552	41228552	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:41228552A>G	ENST00000249749.5	+	9	1643	c.1367A>G	c.(1366-1368)cAt>cGt	p.H456R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	456	EGF-like 7.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		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)		GGCACTTGCCATGACCTGGAG	0.642000													10	0					0	0	0.006214	0	0
APC	324	broad.mit.edu	37	5	112175950	112175950	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:112175950A>G	ENST00000457016.1	+	16	5039	c.4659A>G	c.(4657-4659)gcA>gcG	p.A1553A	APC_ENST00000257430.4_Silent_p.A1553A|APC_ENST00000508376.2_Silent_p.A1553A|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1553	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1554fs*11(1)|p.K1192fs*3(1)|p.?(1)|p.E1554fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAGAGGCAGAAAAAACTA	0.338000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	8					0	0	0.004007	0	0
IFI44L	10964	broad.mit.edu	37	1	79107475	79107475	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:79107475C>G	ENST00000370751.4	+	9	1519	c.1340C>G	c.(1339-1341)gCg>gGg	p.A447G	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.A189G	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	447						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTGAGAGAGCGTTACAGCCC	0.468000													79	86					0	0	0.003610	0	0
TTLL2	83887	broad.mit.edu	37	6	167754848	167754848	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:167754848A>C	ENST00000239587.5	+	3	1548	c.1460A>C	c.(1459-1461)cAg>cCg	p.Q487P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	487					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGCCTCCCAGCTGGAAGGA	0.517000													17	27					0	0	0.004990	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853934	42853934	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:42853934T>C	ENST00000455697.1	-	8	2458	c.2173A>G	c.(2173-2175)Atc>Gtc	p.I725V	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.I725V|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.I725V|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.I725V|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.I725V|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	725					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCATTCTGGATGTATGCTTGG	0.488000													28	46					0	0	0.008361	0	0
CDH18	1016	broad.mit.edu	37	5	19721528	19721528	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:19721528A>C	ENST00000507958.1	-	7	1561	c.571T>G	c.(571-573)Tat>Gat	p.Y191D	CDH18_ENST00000511273.1_Missense_Mutation_p.Y191D|CDH18_ENST00000506372.1_Missense_Mutation_p.Y191D|CDH18_ENST00000274170.4_Missense_Mutation_p.Y191D|CDH18_ENST00000382275.1_Missense_Mutation_p.Y191D|CDH18_ENST00000502796.1_Missense_Mutation_p.Y191D			Q13634	CAD18_HUMAN	cadherin 18, type 2	191	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTTTCCATAGGTAGGGTCA	0.448000													22	95					0	0	0.001882	0	0
PPM1H	57460	broad.mit.edu	37	12	63225978	63225978	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63225978G>T	ENST00000228705.6	-	2	627	c.327C>A	c.(325-327)gcC>gcA	p.A109A		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	109							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TTGAGGTCACGGCCCCTGCCT	0.552000													14	16					2.61681e-11	3.28146e-11	0.002450	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509947	77509947	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:77509947A>T	ENST00000477717.1	+	3	555	c.320A>T	c.(319-321)cAc>cTc	p.H107L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	107					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CATCTGCTGCACAGTCGGCAA	0.622000													16	50					0	0	0.003163	0	0
ROBO3	64221	broad.mit.edu	37	11	124742393	124742393	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124742393G>A	ENST00000397801.1	+	8	1467	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	ROBO3_ENST00000538940.1_Silent_p.Q403Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	425	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACGTGTGCCAGGCTGTCAGTG	0.592000													21	28					0	0	0.010504	0	0
CNGB3	54714	broad.mit.edu	37	8	87680390	87680390	+	Missense_Mutation	SNP	G	G	T	rs142772954		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87680390G>T	ENST00000320005.5	-	5	547	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	167					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TACAGCCGTGGGCTTTGCTTC	0.368000													17	30					1.99824e-07	2.29354e-07	0.004990	1	0
CCDC81	60494	broad.mit.edu	37	11	86126174	86126174	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:86126174G>T	ENST00000278487.3	+	12	1794	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	CCDC81_ENST00000354755.1_Missense_Mutation_p.D414Y|CCDC81_ENST00000528728.1_Missense_Mutation_p.D239Y|CCDC81_ENST00000445632.2_Missense_Mutation_p.D504Y			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	504										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTTTGAGCCAGACTCCTCTGA	0.453000													41	27					1.06522e-23	1.68531e-23	0.003214	1	0
USP32P3	347716	broad.mit.edu	37	17	20319836	20319836	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:20319836G>T	ENST00000583574.2	+	0	165																											TTGCCTTCCCGGTCCTCAAGG	0.527000													25	8					2.21704e-12	2.8344e-12	0.002780	1	0
SLC35E2B	728661	broad.mit.edu	37	1	1607561	1607561	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1607561C>A	ENST00000378662.1	-	4	1160	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.A134S			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	134						integral to membrane				kidney(1)|lung(1)	2						GAAAGCCGGGCCTTGTGCTGA	0.527000													53	0					2.01807e-28	3.37203e-28	0.003610	1	0
EXPH5	23086	broad.mit.edu	37	11	108382616	108382616	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:108382616T>A	ENST00000265843.4	-	6	3728	c.3618A>T	c.(3616-3618)tcA>tcT	p.S1206S	EXPH5_ENST00000525344.1_Silent_p.S1199S|EXPH5_ENST00000443411.1_Silent_p.S1018S|EXPH5_ENST00000428840.1_Silent_p.S1130S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1206					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)		GGTCTTCATTTGAAAGAGCAA	0.388000													24	62					0	0	0.002780	0	0
ADAM33	80332	broad.mit.edu	37	20	3653478	3653478	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3653478C>A	ENST00000356518.2	-	12	1442	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	ADAM33_ENST00000350009.2_Missense_Mutation_p.G401C|ADAM33_ENST00000379861.4_Missense_Mutation_p.G401C|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	401	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CAAGCGCCGCCCCCCTTGCGG	0.731000													20	6					6.33239e-15	8.54025e-15	0.010504	1	0
SEZ6L	23544	broad.mit.edu	37	22	26747053	26747053	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26747053T>A	ENST00000529632.2	+	12	2639	c.2443T>A	c.(2443-2445)Tcg>Acg	p.S815T	SEZ6L_ENST00000411842.2_Missense_Mutation_p.S12T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S815T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S815T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S588T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S815T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S588T|SEZ6L_ENST00000360929.3_Intron	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	815	Sushi 4.					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						GGTGGATCACTCGACCCGCTT	0.542000													8	159					0	0	0.006214	0	0
KCNT2	343450	broad.mit.edu	37	1	196311306	196311306	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:196311306C>A	ENST00000367433.5	-	15	1557	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.G97W|KCNT2_ENST00000294725.8_Missense_Mutation_p.G486W			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	486	RCK N-terminal.					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						ACTTCATTCCCGGAGCATCTA	0.413000													19	37					9.7654e-05	0.000104345	0.007413	1	0
PCDH15	65217	broad.mit.edu	37	10	55912946	55912946	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55912946G>T	ENST00000373965.2	-	15	2113	c.1719C>A	c.(1717-1719)acC>acA	p.T573T	PCDH15_ENST00000395438.1_Silent_p.T566T|PCDH15_ENST00000395445.1_Silent_p.T573T|PCDH15_ENST00000409834.1_Silent_p.T177T|PCDH15_ENST00000373955.1_Silent_p.T566T|PCDH15_ENST00000395430.1_Silent_p.T566T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.T529T|PCDH15_ENST00000320301.6_Silent_p.T566T|PCDH15_ENST00000437009.1_Silent_p.T566T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.T544T|PCDH15_ENST00000414778.1_Silent_p.T571T|PCDH15_ENST00000395446.1_Silent_p.T566T|PCDH15_ENST00000361849.3_Silent_p.T566T|PCDH15_ENST00000395433.1_Silent_p.T544T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	566	Cadherin 5.				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)				CTGGAGCGATGGTGATAAGCC	0.498000										HNSCC(58;0.16)			42	9					4.67007e-22	7.22005e-22	0.008740	1	0
RTEL1	51750	broad.mit.edu	37	20	62292793	62292793	+	Missense_Mutation	SNP	C	C	T	rs143461704	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62292793C>T	ENST00000318100.4	+	3	1072	c.245C>T	c.(244-246)cCg>cTg	p.P82L	RTEL1_ENST00000370018.3_Missense_Mutation_p.P82L|RTEL1_ENST00000360203.5_Missense_Mutation_p.P82L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P82L|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000508582.2_Missense_Mutation_p.P82L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	82	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCTTTTCCCGGATCGGGCC	0.647000													17	49					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179659128	179659128	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179659128G>T	ENST00000589042.1	-	8	1620	c.1396C>A	c.(1396-1398)Cag>Aag	p.Q466K	TTN_ENST00000460472.2_Missense_Mutation_p.Q466K|TTN_ENST00000360870.5_Missense_Mutation_p.Q466K|TTN_ENST00000342175.6_Missense_Mutation_p.Q466K|TTN_ENST00000359218.5_Missense_Mutation_p.Q466K|TTN_ENST00000342992.6_Missense_Mutation_p.Q466K|TTN_ENST00000591111.1_Missense_Mutation_p.Q466K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	466							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)			GCACGTACCTGTTCTTGAGCA	0.562000													64	111					3.13296e-38	5.58645e-38	0.003610	1	0
CSMD1	64478	broad.mit.edu	37	8	2832081	2832081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:2832081C>A	ENST00000602557.1	-	57	9190	c.8635G>T	c.(8635-8637)Ggc>Tgc	p.G2879C	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2820C|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2879C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2821C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2878C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2821C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2879	Sushi 21.					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)		ACGACGGCGCCATAGGTAAAC	0.557000													7	0					8.12818e-05	8.68982e-05	0.001984	1	0
MBD5	55777	broad.mit.edu	37	2	149247152	149247152	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:149247152C>T	ENST00000407073.1	+	12	4249	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	MBD5_ENST00000404807.1_Silent_p.S1317S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1084						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGATGCTTCCGTAGATGCCA	0.502000													43	80					0	0	0.002852	0	0
IGSF11	152404	broad.mit.edu	37	3	118623535	118623535	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:118623535T>A	ENST00000354673.2	-	8	1191	c.811A>T	c.(811-813)Aat>Tat	p.N271Y	IGSF11_ENST00000393775.2_Missense_Mutation_p.N272Y|IGSF11_ENST00000441144.2_Missense_Mutation_p.N247Y|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248Y|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244Y|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271Y	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTCTTTATTTTTGCTTCTC	0.343000													49	251					0	0	0.003610	0	0
GBP4	115361	broad.mit.edu	37	1	89654327	89654327	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:89654327A>G	ENST00000355754.6	-	8	1445	c.1348T>C	c.(1348-1350)Tac>Cac	p.Y450H		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	450						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTTCTAAGTAGAGATTGTGT	0.448000													143	336					0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7583592	7583592	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:7583592G>A	ENST00000379802.3	+	24	6438	c.6097G>A	c.(6097-6099)Gag>Aag	p.E2033K	DSP_ENST00000418664.2_Missense_Mutation_p.E1434K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2033	Globular 2.				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)		CTCTTTGGTAGAGGCCAAGAG	0.478000													72	40					0	0	0.003610	0	0
APOL3	80833	broad.mit.edu	37	22	36556832	36556832	+	Translation_Start_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:36556832T>C	ENST00000397293.2	-	0	145				APOL3_ENST00000397287.2_De_novo_Start_InFrame|APOL3_ENST00000349314.2_Missense_Mutation_p.I36M|APOL3_ENST00000361710.2_De_novo_Start_InFrame|APOL3_ENST00000424878.2_Intron			O95236	APOL3_HUMAN	apolipoprotein L, 3						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						GGCTCTGAGATATACCCTGGA	0.517000													40	8					0	0	0.007835	0	0
FLG	2312	broad.mit.edu	37	1	152281867	152281867	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152281867G>C	ENST00000368799.1	-	3	5530	c.5495C>G	c.(5494-5496)tCg>tGg	p.S1832W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1832	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTATCTACCGATTGCTCATA	0.577000									Ichthyosis				172	260					0	0	0.003610	0	0
ERC1	23085	broad.mit.edu	37	12	1291232	1291232	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:1291232G>T	ENST00000397203.2	+	10	2422		c.e10+1		ERC1_ENST00000360905.4_Splice_Site|ERC1_ENST00000355446.5_Splice_Site|ERC1_ENST00000536573.2_Splice_Site|ERC1_ENST00000546231.2_Splice_Site|ERC1_ENST00000543086.3_Splice_Site|ERC1_ENST00000589028.1_Splice_Site			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAAGAGGTTAAGCTCCC	0.358000													12	3					2.80697e-09	3.35914e-09	0.000978	1	0
ZNF587B	100293516	broad.mit.edu	37	19	58352808	58352808	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:58352808A>T	ENST00000442832.4	+	3	1000	c.766A>T	c.(766-768)Agc>Tgc	p.S256C	ZNF587B_ENST00000594901.1_Missense_Mutation_p.S256C|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	256					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										CAAATATGTTAGCTTCAGTAA	0.388000													5	11					0	0	0.000602	0	0
PRKCI	5584	broad.mit.edu	37	3	170009707	170009707	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:170009707A>T	ENST00000295797.4	+	13	1574	c.1269A>T	c.(1267-1269)gaA>gaT	p.E423D		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	423	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|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;0.197)			TTGCTCCTGAAATTTTAAGAG	0.343000													19	19					0	0	0.010504	0	0
MTMR8	55613	broad.mit.edu	37	X	63569932	63569932	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:63569932G>T	ENST00000374852.3	-	5	554	c.487C>A	c.(487-489)Cct>Act	p.P163T	MTMR8_ENST00000453546.1_Missense_Mutation_p.P163T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	163	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						ACTATTTCAGGAGGGTAGGTG	0.348000													26	6					9.39395e-14	1.22897e-13	0.006320	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212836	26212836	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:26212836C>G	ENST00000379034.1	+	2	1022	c.873C>G	c.(871-873)ctC>ctG	p.L291L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	291	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGATGTCGCTCCTGGTTGTGA	0.542000													78	19					0	0	0.003610	0	0
TIGIT	201633	broad.mit.edu	37	3	114018486	114018486	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:114018486C>A	ENST00000481065.1	+	4	3250	c.635C>A	c.(634-636)gCc>gAc	p.A212D	TIGIT_ENST00000383671.3_Missense_Mutation_p.A145D|TIGIT_ENST00000486257.1_Missense_Mutation_p.A145D			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	145					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TTGCTTGGAGCCATGGCCGCG	0.572000													14	52					5.01169e-05	5.41693e-05	0.004990	1	0
ATP2B3	492	broad.mit.edu	37	X	152814969	152814969	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:152814969C>A	ENST00000370186.1	+	9	1637	c.1311C>A	c.(1309-1311)gaC>gaA	p.D437E	ATP2B3_ENST00000393842.1_Missense_Mutation_p.D437E|ATP2B3_ENST00000370181.2_Missense_Mutation_p.D437E|ATP2B3_ENST00000359149.3_Missense_Mutation_p.D451E|ATP2B3_ENST00000349466.2_Missense_Mutation_p.D451E|ATP2B3_ENST00000263519.4_Missense_Mutation_p.D451E			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	451					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATGAAAGACAACAACCTGG	0.577000													41	16					5.44703e-19	7.98166e-19	0.009718	1	0
GRM5	2915	broad.mit.edu	37	11	88300288	88300288	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:88300288C>T	ENST00000418177.2	-	8	2930	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T	GRM5_ENST00000393297.1_Missense_Mutation_p.A855T|GRM5_ENST00000305432.5_Missense_Mutation_p.A855T|GRM5_ENST00000305447.4_Missense_Mutation_p.A855T|GRM5_ENST00000455756.2_Missense_Mutation_p.A855T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	855					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A855T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTGCTGGCTGCGGAGGATGAC	0.567000													26	64					0	0	0.005443	0	0
CCER1	196477	broad.mit.edu	37	12	91348364	91348364	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:91348364G>T	ENST00000358859.2	-	1	589	c.156C>A	c.(154-156)caC>caA	p.H52Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGCTATATCGGTGCGGTCTAT	0.647000													9	17					1.12685e-05	1.23289e-05	0.004482	1	0
RPN1	6184	broad.mit.edu	37	3	128345673	128345673	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:128345673C>G	ENST00000296255.3	-	6	1087	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	RPN1_ENST00000497289.1_Missense_Mutation_p.D175H|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	347					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GCATACTGGTCACCTGAAGGA	0.453000			T	EVI1	AML								13	40					0	0	0.002450	0	0
SLC12A2	6558	broad.mit.edu	37	5	127449957	127449957	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:127449957G>C	ENST00000262461.2	+	3	1119	c.930G>C	c.(928-930)tgG>tgC	p.W310C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.W310C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	310					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GATTGTCATGGATTGTGGGTC	0.378000													30	54					0	0	0.008361	0	0
OR7D4	125958	broad.mit.edu	37	19	9325053	9325053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9325053C>A	ENST00000308682.2	-	1	489	c.461G>T	c.(460-462)tGg>tTg	p.W154L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	154					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						CAGGGAGAACCAGAAAATGAT	0.527000													50	11					2.24722e-20	3.38115e-20	0.003610	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95108049	95108049	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95108049G>T	ENST00000469935.1	+	0	654					NR_015340.1																						CAGGGTCCCCGGCTCCTCCTG	0.632000													33	52					4.23469e-30	7.17961e-30	0.003271	1	0
LYPD1	116372	broad.mit.edu	37	2	133426004	133426004	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133426004C>A	ENST00000397463.2	-	2	431	c.159G>T	c.(157-159)atG>atT	p.M53I	LYPD1_ENST00000345008.6_Start_Codon_SNP_p.M1I	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	53	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						CTTTCTGACACATGTCTTGAA	0.552000													18	54					5.35267e-07	6.04482e-07	0.007413	1	0
RYR1	6261	broad.mit.edu	37	19	38993190	38993190	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:38993190A>C	ENST00000355481.4	+	48	7789	c.7658A>C	c.(7657-7659)tAc>tCc	p.Y2553S	RYR1_ENST00000359596.3_Missense_Mutation_p.Y2553S|RYR1_ENST00000360985.3_Missense_Mutation_p.Y2553S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2553	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	CTGAACCGCTACCTGTGCCTG	0.652000													23	2					0	0	0.003330	0	0
ALPK2	115701	broad.mit.edu	37	18	56246747	56246747	+	Missense_Mutation	SNP	C	C	A	rs150536488		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:56246747C>A	ENST00000361673.3	-	4	1474	c.1261G>T	c.(1261-1263)Ggt>Tgt	p.G421C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	421							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						GATGAGGGACCGTGCTTGGAG	0.557000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	4					9.39024e-22	1.44607e-21	0.009718	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515629	140515629	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140515629C>A	ENST00000231134.5	+	1	830	c.613C>A	c.(613-615)Cgg>Agg	p.R205R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		205	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)			CCGGGAGGAGCGGCCTGAGCT	0.542000													76	8					7.46257e-40	1.34285e-39	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158609374	158609374	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158609374C>G	ENST00000368148.3	-	35	5158	c.4978G>C	c.(4978-4980)Gag>Cag	p.E1660Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1660Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1660					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)					CTACTTACCTCTCGAGCCAAC	0.483000													34	55					0	0	0.004289	0	0
CD1E	913	broad.mit.edu	37	1	158324272	158324272	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158324272G>T	ENST00000368160.3	+	2	164	c.164G>T	c.(163-165)gGc>gTc	p.G55V	CD1E_ENST00000368163.3_Missense_Mutation_p.G55V|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G55V|CD1E_ENST00000368165.3_Missense_Mutation_p.G55V|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.G55V|CD1E_ENST00000368161.3_Missense_Mutation_p.G55V|CD1E_ENST00000368156.1_Missense_Mutation_p.G55V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G53V	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	55					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACAGTGAGGGCTCAGGATGG	0.567000													29	33					7.26314e-15	9.74868e-15	0.007291	1	0
ANK2	287	broad.mit.edu	37	4	114276758	114276758	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:114276758A>T	ENST00000357077.4	+	38	7037	c.6984A>T	c.(6982-6984)acA>acT	p.T2328T	ANK2_ENST00000264366.6_Silent_p.T2295T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2295					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGATTGCACAGGCAGCTGTA	0.493000													15	22					0	0	0.002450	0	0
LPHN3	23284	broad.mit.edu	37	4	62903488	62903488	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62903488T>A	ENST00000512091.1	+	23	4174	c.3427T>A	c.(3427-3429)Tgt>Agt	p.C1143S	LPHN3_ENST00000506700.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000508946.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000506720.1_Missense_Mutation_p.C1211S|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1211S|LPHN3_ENST00000506746.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000545650.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000514996.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000507625.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000514591.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1211S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1121					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AACACATTGCTGTAGTGGCAA	0.413000													29	25					0	0	0.007291	0	0
NPHS1	4868	broad.mit.edu	37	19	36322197	36322197	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36322197C>A	ENST00000378910.5	-	26	3387		c.e26+1		NPHS1_ENST00000353632.6_Splice_Site	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)						cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCACTTACCGTGGAGCTC	0.612000													48	12					1.61863e-15	2.21029e-15	0.003610	1	0
DOK7	285489	broad.mit.edu	37	4	3478232	3478232	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:3478232C>T	ENST00000340083.5	+	4	560	c.495C>T	c.(493-495)agC>agT	p.S165S	DOK7_ENST00000507039.1_Silent_p.S165S|DOK7_ENST00000389653.2_Silent_p.S165S	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	165	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGTGCCAAGCGGATTCATCT	0.627000													25	59					0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884135	228884135	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:228884135T>G	ENST00000392056.3	-	7	1481	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T479P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	479						cytoplasm	protein binding			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)		ATGCTTGAGGTTTCAACAGAG	0.532000													18	28					0	0	0.001882	0	0
OGDHL	55753	broad.mit.edu	37	10	50964944	50964944	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50964944A>T	ENST00000374103.4	-	3	338	c.253T>A	c.(253-255)Tct>Act	p.S85T	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	85					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						GGCTGAGCAGAGCCAGAAAAG	0.587000													28	30					0	0	0.006320	0	0
KCNC2	3747	broad.mit.edu	37	12	75601353	75601353	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:75601353C>A	ENST00000549446.1	-	2	1091	c.411G>T	c.(409-411)gaG>gaT	p.E137D	KCNC2_ENST00000393288.2_Missense_Mutation_p.E137D|KCNC2_ENST00000341669.3_Missense_Mutation_p.E137D|KCNC2_ENST00000548513.1_Missense_Mutation_p.E137D|KCNC2_ENST00000350228.2_Missense_Mutation_p.E137D|KCNC2_ENST00000550433.1_Missense_Mutation_p.E137D|KCNC2_ENST00000540018.1_Missense_Mutation_p.E137D|KCNC2_ENST00000298972.1_Missense_Mutation_p.E137D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	137					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAAGGCCAGCTCCTCCTCGA	0.667000													41	13					1.41504e-22	2.1998e-22	0.002852	1	0
TIE1	7075	broad.mit.edu	37	1	43783065	43783065	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:43783065A>T	ENST00000372476.3	+	15	2684	c.2605A>T	c.(2605-2607)Atc>Ttc	p.I869F	TIE1_ENST00000433781.2_Missense_Mutation_p.I514F|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	869	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAACGCAGCCATCAAAATGCT	0.592000													48	37					0	0	0.003610	0	0
COL12A1	1303	broad.mit.edu	37	6	75861589	75861589	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:75861589C>G	ENST00000322507.8	-	20	4303	c.3994G>C	c.(3994-3996)Gct>Cct	p.A1332P	COL12A1_ENST00000483888.2_Missense_Mutation_p.A1332P|COL12A1_ENST00000345356.6_Missense_Mutation_p.A168P|COL12A1_ENST00000416123.2_Missense_Mutation_p.A1332P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1332	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTACCAATAGCAAACAGCTCC	0.413000													73	48					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141736737	141736737	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:141736737C>T	ENST00000475668.2	+	18	2245	c.2191C>T	c.(2191-2193)Cac>Tac	p.H731Y	MGAM_ENST00000549489.2_Missense_Mutation_p.H731Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	731	Maltase.				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)	CTTCCGTGCTCACAGCCGAGG	0.478000													123	24					0	0	0.003610	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027441	86027441	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:86027441G>T	ENST00000414626.2	+	4	1480	c.591G>T	c.(589-591)ctG>ctT	p.L197L	LRRCC1_ENST00000360375.3_Silent_p.L217L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	217	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CATCACAGCTGCAGTGCCTAG	0.338000													13	27					6.94344e-10	8.41694e-10	0.006122	1	0
FBLN1	2192	broad.mit.edu	37	22	45914600	45914600	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:45914600G>A	ENST00000348697.2	+	2	265	c.118G>A	c.(118-120)Gga>Aga	p.G40R	FBLN1_ENST00000262722.7_Missense_Mutation_p.G40R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G40R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G40R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G40R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G40R			P23142	FBLN1_HUMAN	fibulin 1	40	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGTGCGGACGGACACCGGAT	0.597000													3	8					0	0	0.009096	0	0
CSMD2	114784	broad.mit.edu	37	1	34083116	34083116	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:34083116G>C	ENST00000373381.4	-	38	6105	c.5929C>G	c.(5929-5931)Ccg>Gcg	p.P1977A	CSMD2_ENST00000373377.1_Missense_Mutation_p.P76A|CSMD2_ENST00000373380.1_Missense_Mutation_p.P850A|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76A	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 12.					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)				GCATATCCCGGCTCACACTGG	0.587000													25	14					0	0	0.003330	0	0
CACNA1A	773	broad.mit.edu	37	19	13323474	13323474	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13323474G>T	ENST00000360228.5	-	41	6020	c.6021C>A	c.(6019-6021)ccC>ccA	p.P2007P	CACNA1A_ENST00000573710.2_Silent_p.P2008P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2008					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTGGGTGGAGGGGAGGGCGT	0.682000													6	2					8.12818e-05	8.68982e-05	0.001984	1	0
TIE1	7075	broad.mit.edu	37	1	43783064	43783064	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:43783064C>A	ENST00000372476.3	+	15	2683	c.2604C>A	c.(2602-2604)gcC>gcA	p.A868A	TIE1_ENST00000433781.2_Silent_p.A513A|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	868	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A868A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAACGCAGCCATCAAAATGC	0.592000													47	34					2.64894e-19	3.90779e-19	0.003610	1	0
BRINP1	1620	broad.mit.edu	37	9	121930490	121930490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:121930490C>A	ENST00000265922.3	-	8	1619	c.1158G>T	c.(1156-1158)caG>caT	p.Q386H	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		386					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTGCAAGCCACTGCTGAATTG	0.512000													11	2					0.00185496	0.00192653	0.001855	1	0
SCN2A	6326	broad.mit.edu	37	2	166165749	166165749	+	Missense_Mutation	SNP	C	C	A	rs2228981		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:166165749C>A	ENST00000357398.3	+	6	970	c.680C>A	c.(679-681)aCt>aAt	p.T227N	SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.T227N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	227					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)	GCTTTGAAAACTATTTCTGTA	0.363000													13	23					4.3838e-07	4.97067e-07	0.001855	1	0
GAK	2580	broad.mit.edu	37	4	905555	905555	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:905555C>A	ENST00000314167.4	-	4	398	c.288G>T	c.(286-288)ccG>ccT	p.P96P	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	96	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGACAATGTTCGGGTGGCCGG	0.448000													62	35					7.05995e-25	1.13525e-24	0.003610	1	0
OR13D1	286365	broad.mit.edu	37	9	107457184	107457184	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107457184C>G	ENST00000318763.5	+	1	525	c.482C>G	c.(481-483)cCa>cGa	p.P161R		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCTGCAACCCACTGAGGTAC	0.537000													73	23					0	0	0.003610	0	0
COG5	10466	broad.mit.edu	37	7	107002814	107002814	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:107002814C>A	ENST00000393603.2	-	9	1251	c.980G>T	c.(979-981)cGt>cTt	p.R327L	COG5_ENST00000347053.3_Missense_Mutation_p.R327L|COG5_ENST00000297135.3_Missense_Mutation_p.R327L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	327					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAATGAGGCACGCAAAGCTGC	0.398000													28	3					2.42023e-17	3.42881e-17	0.003271	1	0
OBSCN	84033	broad.mit.edu	37	1	228434381	228434381	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:228434381G>T	ENST00000570156.2	+	14	4260	c.4186G>T	c.(4186-4188)Gtg>Ttg	p.V1396L	OBSCN_ENST00000284548.11_Missense_Mutation_p.V1304L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1304L|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	378	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGTTCGAAAGTGCGCATAGA	0.647000													69	19					1.55545e-33	2.70243e-33	0.003610	1	0
ZBTB25	7597	broad.mit.edu	37	14	64954030	64954030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:64954030G>A	ENST00000394715.1	-	6	1620	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.Q307*			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	307						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCTGGCTGCTGTTCATTCTCC	0.473000													54	93					0	0	0.003610	0	0
TRPC7	57113	broad.mit.edu	37	5	135601950	135601950	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135601950G>C	ENST00000513104.1	-	5	1585	c.1303C>G	c.(1303-1305)Cag>Gag	p.Q435E	TRPC7_ENST00000426057.2_Missense_Mutation_p.Q319E|TRPC7_ENST00000355180.3_Missense_Mutation_p.Q374E	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	435					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGGAGAACTGTGTGGTTTTC	0.378000													60	20					0	0	0.003610	0	0
DRD5	1816	broad.mit.edu	37	4	9783861	9783861	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:9783861C>A	ENST00000304374.2	+	1	604	c.208C>A	c.(208-210)Cac>Aac	p.H70N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	70					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCGGAGCCGCCACCTGCGCGC	0.647000													30	18					1.36615e-20	2.06339e-20	0.002836	1	0
ACKR3	57007	broad.mit.edu	37	2	237489334	237489334	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:237489334G>A	ENST00000272928.3	+	2	536	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAAGACCACAGGCTATGACAC	0.537000													15	25					0	0	0.003163	0	0
PLA1A	51365	broad.mit.edu	37	3	119336897	119336897	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:119336897G>T	ENST00000273371.4	+	7	858	c.786G>T	c.(784-786)agG>agT	p.R262S	PLA1A_ENST00000494440.1_Missense_Mutation_p.R246S|PLA1A_ENST00000495992.1_Missense_Mutation_p.R246S|PLA1A_ENST00000488919.1_Missense_Mutation_p.R89S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	262					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCACATGAGGGCTGTGCACC	0.468000													220	112					7.99439e-90	1.5401e-89	0.003610	1	0
CENPJ	55835	broad.mit.edu	37	13	25480995	25480995	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25480995T>A	ENST00000381884.4	-	7	1366	c.1181A>T	c.(1180-1182)aAa>aTa	p.K394I	CENPJ_ENST00000545981.1_Missense_Mutation_p.K394I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	394					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCTTTGCCTTTTTGAAACTT	0.403000													16	4					0	0	0.004007	0	0
OSTN	344901	broad.mit.edu	37	3	190936625	190936625	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:190936625T>A	ENST00000445281.1	+	3	259	c.192T>A	c.(190-192)ctT>ctA	p.L64L	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000339051.1_Silent_p.L64L			P61366	OSTN_HUMAN	osteocrin	64					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACTCTTGCTTCTTGATGAAT	0.458000													20	42					0	0	0.010504	0	0
OR5B17	219965	broad.mit.edu	37	11	58126271	58126271	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58126271G>T	ENST00000357377.3	-	1	271	c.272C>A	c.(271-273)tCc>tAc	p.S91Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	91					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)				GGCACTGTAGGAGATGGCTTT	0.463000													34	16					5.91797e-21	8.98671e-21	0.002445	1	0
EVI5	7813	broad.mit.edu	37	1	93201972	93201972	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:93201972T>A	ENST00000370331.1	-	2	273	c.264A>T	c.(262-264)aaA>aaT	p.K88N	EVI5_ENST00000543509.1_Missense_Mutation_p.K88N|EVI5_ENST00000540033.1_Missense_Mutation_p.K88N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	88	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTCTTCCAGTTTAGCCAGGA	0.398000													28	21					0	0	0.006320	0	0
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:89653808G>T	ENST00000371953.3	+	2	1463	c.106G>T	c.(106-108)Gga>Tga	p.G36*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G36R(4)|p.Y27fs*1(2)|p.G36*(1)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			24	6					2.79863e-10	3.43707e-10	0.004656	1	0
OR51I2	390064	broad.mit.edu	37	11	5475259	5475259	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5475259C>G	ENST00000341449.2	+	1	622	c.541C>G	c.(541-543)Cac>Gac	p.H181D	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	181					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)		CTACTGCCTGCACCCAGACAT	0.458000													55	18					0	0	0.003610	0	0
IGSF3	3321	broad.mit.edu	37	1	117158852	117158852	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117158852C>G	ENST00000369486.3	-	3	1036	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R	IGSF3_ENST00000369483.1_Missense_Mutation_p.G91R|IGSF3_ENST00000318837.6_Missense_Mutation_p.G91R	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	91	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AAGATCTTCCCTCCGCGGACG	0.567000													10	19					0	0	0.006214	0	0
NOS3	4846	broad.mit.edu	37	7	150704224	150704224	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150704224C>A	ENST00000297494.3	+	17	2329	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	NOS3_ENST00000461406.1_Missense_Mutation_p.P452T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	658	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCGGGCATACCCCCACTTCTG	0.687000													79	15					6.44082e-31	1.09768e-30	0.003610	1	0
FUS	2521	broad.mit.edu	37	16	31196353	31196353	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31196353G>C	ENST00000254108.7	+	6	722	c.617G>C	c.(616-618)gGt>gCt	p.G206A	FUS_ENST00000380244.3_Missense_Mutation_p.G205A|FUS_ENST00000568685.1_Missense_Mutation_p.G206A	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	206	Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggcagcggtggCTATGGA	0.632000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								8	13					0	0	0.003080	0	0
SGCZ	137868	broad.mit.edu	37	8	13948043	13948043	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:13948043A>G	ENST00000382080.1	-	8	1563	c.848T>C	c.(847-849)cTc>cCc	p.L283P	SGCZ_ENST00000421524.2_Missense_Mutation_p.L236P	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	270					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)		GCAGACGCAGAGTTCATACAC	0.478000													35	14					0	0	0.003271	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128190	117128190	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:117128190G>T	ENST00000310357.3	-	3	699	c.678C>A	c.(676-678)aaC>aaA	p.N226K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.N226K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.N226K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	226					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTATAAAAGTGTTAAGAGCCA	0.393000													72	22					2.84776e-26	4.64385e-26	0.003610	1	0
ALK	238	broad.mit.edu	37	2	29474108	29474108	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:29474108C>A	ENST00000389048.3	-	12	2973	c.2067G>T	c.(2065-2067)ggG>ggT	p.G689G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	689					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCCGCTGGCCCCACATGTGG	0.657000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				15	21					6.31663e-08	7.34014e-08	0.003163	1	0
RYR2	6262	broad.mit.edu	37	1	237965165	237965165	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:237965165C>A	ENST00000366574.2	+	98	14417	c.14100C>A	c.(14098-14100)tcC>tcA	p.S4700S	RYR2_ENST00000542537.1_Silent_p.S4684S|RYR2_ENST00000360064.6_Silent_p.S4706S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4700					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)			GACTGAACTCCATTGATGTGA	0.393000													22	3					6.21321e-17	8.70825e-17	0.002780	1	0
ASTN1	460	broad.mit.edu	37	1	176852122	176852122	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176852122G>A	ENST00000367654.2	-	20	3272	c.3259C>T	c.(3259-3261)Ctg>Ttg	p.L1087L	ASTN1_ENST00000367657.3_Silent_p.L1079L|ASTN1_ENST00000361833.2_Silent_p.L1079L|ASTN1_ENST00000424564.2_Silent_p.L1079L			O14525	ASTN1_HUMAN	astrotactin 1	1087	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAAAGCTCAGCACTGTTTCT	0.483000													13	37					0	0	0.001368	0	0
NELL2	4753	broad.mit.edu	37	12	45269639	45269639	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:45269639A>T	ENST00000429094.2	-	1	518	c.14T>A	c.(13-15)gTc>gAc	p.V5D	NELL2_ENST00000452445.2_Missense_Mutation_p.V5D|NELL2_ENST00000548826.1_Missense_Mutation_p.V5D|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.V55D|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.V28D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	5			V -> I (in dbSNP:rs2658973).		cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTCAGTAAGACCCGAGACTC	0.517000													49	24					0	0	0.003610	0	0
FAM45B	55855	broad.mit.edu	37	X	129629754	129629754	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:129629754C>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							GTGGCACCGACAGGACTGGAC	0.537000													32	11					7.11191e-15	9.5653e-15	0.002836	1	0
NFRKB	4798	broad.mit.edu	37	11	129762765	129762765	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:129762765T>C	ENST00000524794.1	-	1	139	c.19A>G	c.(19-21)Agt>Ggt	p.S7G	NFRKB_ENST00000524746.1_5'UTR|NFRKB_ENST00000304521.5_5'UTR|NFRKB_ENST00000526940.1_5'UTR|NFRKB_ENST00000446488.3_5'UTR			Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	0					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCACAGGTACTCTGGACAAAG	0.483000													42	79					0	0	0.008740	0	0
OR3A2	4995	broad.mit.edu	37	17	3181358	3181358	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3181358T>C	ENST00000408891.2	-	1	910	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	291					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CAGCATAGGGTTGATAACAGT	0.453000													12	48					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179629317	179629317	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179629317A>G	ENST00000589042.1	-	42	10149	c.9925T>C	c.(9925-9927)Tat>Cat	p.Y3309H	TTN_ENST00000460472.2_Missense_Mutation_p.Y3263H|TTN_ENST00000360870.5_Missense_Mutation_p.Y3309H|TTN_ENST00000342175.6_Missense_Mutation_p.Y3263H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y3263H|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y3309H|TTN_ENST00000591111.1_Missense_Mutation_p.Y3309H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3038	Ig-like 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)			TCACAGGTATAGACTGCCGCA	0.463000													53	44					0	0	0.003610	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28305285	28305285	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:28305285C>A	ENST00000284987.5	-	5	1889	c.1768G>T	c.(1768-1770)Gcc>Tcc	p.A590S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	590	TSP type-1 1.				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						TGACGATAGGCAAACTGCACT	0.542000													23	1					1.96895e-08	2.3126e-08	0.002780	1	0
BRDT	676	broad.mit.edu	37	1	92470805	92470805	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:92470805A>C	ENST00000370389.2	+	18	3429	c.2505A>C	c.(2503-2505)aaA>aaC	p.K835N	BRDT_ENST00000394530.3_Missense_Mutation_p.K862N|BRDT_ENST00000399546.2_Missense_Mutation_p.K908N|BRDT_ENST00000362005.3_Missense_Mutation_p.K908N|BRDT_ENST00000402388.1_Missense_Mutation_p.K908N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	908					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GGCTTCTCAAAGACCGTGATT	0.363000													60	48					0	0	0.003610	0	0
PLP1	5354	broad.mit.edu	37	X	103040647	103040647	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:103040647T>A	ENST00000418604.1	+	3	421	c.141T>A	c.(139-141)atT>atA	p.I47I	PLP1_ENST00000303958.2_Silent_p.I47I|PLP1_ENST00000361621.2_Silent_p.I47I	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	47					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AAAAGCTAATTGAGACCTATT	0.483000													68	18					0	0	0.003610	0	0
LARP4	113251	broad.mit.edu	37	12	50822840	50822840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50822840G>T	ENST00000398473.2	+	3	401	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	LARP4_ENST00000293618.8_Nonsense_Mutation_p.E97*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.E103*|LARP4_ENST00000518561.1_Nonsense_Mutation_p.E27*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.E96*|LARP4_ENST00000522085.1_Nonsense_Mutation_p.E97*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.E97*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	97							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTTAGGACCAGAAGATCTGAG	0.348000													27	6					1.30988e-24	2.09944e-24	0.002096	1	0
FRYL	285527	broad.mit.edu	37	4	48524980	48524980	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:48524980C>T	ENST00000537810.1	-	54	8063	c.7459G>A	c.(7459-7461)Gat>Aat	p.D2487N	FRYL_ENST00000358350.4_Missense_Mutation_p.D2487N|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.D2487N			O94915	FRYL_HUMAN	FRY-like	2487					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGGACTCATCTGTATCCTCC	0.498000													93	74					0	0	0.003610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328109	88328109	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:88328109G>A	ENST00000325089.6	+	2	685	c.466G>A	c.(466-468)Gag>Aag	p.E156K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	156						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGAGAACCTGGAGTACCTACA	0.448000													23	63					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179408974	179408974	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179408974G>T	ENST00000589042.1	-	345	96206	c.95982C>A	c.(95980-95982)agC>agA	p.S31994R	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22929R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23121R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23054R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29426R|TTN_ENST00000591111.1_Missense_Mutation_p.S30353R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30353	Ig-like 142.						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)			CGCTGTATTCGCTCATACCCT	0.413000													21	39					2.32416e-17	3.30222e-17	0.002299	1	0
MYH8	4626	broad.mit.edu	37	17	10318833	10318833	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10318833C>A	ENST00000403437.2	-	7	698	c.604G>T	c.(604-606)Gca>Tca	p.A202S	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	202	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.A202S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGTAACTGCAATTGTTGCA	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	59					7.41606e-26	1.20534e-25	0.003610	1	0
SNAI2	6591	broad.mit.edu	37	8	49832655	49832655	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:49832655C>A	ENST00000396822.1	-	3	782	c.425G>T	c.(424-426)gGg>gTg	p.G142V	SNAI2_ENST00000020945.1_Missense_Mutation_p.G142V			O43623	SNAI2_HUMAN	snail family zinc finger 2	142					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTGGCCAGCCCAGAAAAAGT	0.453000													33	71					8.53417e-09	1.01266e-08	0.002836	1	0
CLN5	1203	broad.mit.edu	37	13	77569290	77569290	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:77569290A>G	ENST00000377453.3	+	2	1705	c.413A>G	c.(412-414)gAt>gGt	p.D138G	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	89					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ATGGAGGGTGATGATGACATT	0.418000													24	58					0	0	0.002780	0	0
SLC20A2	6575	broad.mit.edu	37	8	42323300	42323300	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:42323300T>C	ENST00000342228.3	-	3	794	c.425A>G	c.(424-426)aAg>aGg	p.K142R	SLC20A2_ENST00000520179.1_Missense_Mutation_p.K142R|SLC20A2_ENST00000520262.1_Missense_Mutation_p.K142R	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	142					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTACCAATCTTGACAAGCTC	0.388000													46	25					0	0	0.003610	0	0
APBA2	321	broad.mit.edu	37	15	29406125	29406125	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29406125G>T	ENST00000558402.1	+	15	2683	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	APBA2_ENST00000561069.1_Missense_Mutation_p.R695L|APBA2_ENST00000558330.1_Missense_Mutation_p.R683L|APBA2_ENST00000411764.1_Missense_Mutation_p.R683L|APBA2_ENST00000558259.1_Missense_Mutation_p.R695L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	695	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGGGCGTCCGTGTGGGCCAC	0.627000													29	119					1.39806e-14	1.86376e-14	0.008361	1	0
LAP3	51056	broad.mit.edu	37	4	17584016	17584016	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:17584016G>A	ENST00000226299.4	+	4	653	c.379_splice	c.e4+1	p.A127_splice	LAP3_ENST00000606142.1_Splice_Site_p.A96_splice	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	127					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGCTGTTGCAGGTTATTTCAC	0.463000													4	12					0	0	0.009096	0	0
OR51B6	390058	broad.mit.edu	37	11	5373621	5373621	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5373621A>T	ENST00000380219.1	+	1	884	c.884A>T	c.(883-885)aAg>aTg	p.K295M	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	295					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)		ATTAAAACTAAGCAGATTCAG	0.413000													50	5					0	0	0.003610	0	0
PDZRN4	29951	broad.mit.edu	37	12	41831786	41831786	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:41831786C>A	ENST00000539469.2	+	1	302	c.40C>A	c.(40-42)Cac>Aac	p.H14N	PDZRN4_ENST00000298919.7_5'UTR|PDZRN4_ENST00000402685.2_Intron|RP11-413B19.2_ENST00000547168.1_RNA	NM_013377.3	NP_037509.3	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	0							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGAGAGGAACACTACAAACT	0.428000													85	26					3.14276e-30	5.33754e-30	0.003610	1	0
BNC1	646	broad.mit.edu	37	15	83926531	83926531	+	Missense_Mutation	SNP	C	C	A	rs138195790		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:83926531C>A	ENST00000345382.2	-	5	2733	c.2648G>T	c.(2647-2649)gGc>gTc	p.G883V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G876V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	883					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						AAGCACAGTGCCTTCCTCACT	0.552000													91	22					1.52223e-32	2.62615e-32	0.003610	1	0
FGA	2243	broad.mit.edu	37	4	155507680	155507680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:155507680C>A	ENST00000302053.3	-	5	979	c.901G>T	c.(901-903)Gga>Tga	p.G301*	FGA_ENST00000403106.3_Nonsense_Mutation_p.G301*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	301					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)	CTTCCAGGTCCAGAGCTCCCA	0.572000													52	79					4.02871e-13	5.21159e-13	0.003610	1	0
NKX3-2	579	broad.mit.edu	37	4	13544065	13544065	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:13544065C>A	ENST00000382438.5	-	2	1189	c.554G>T	c.(553-555)gGc>gTc	p.G185V		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	185	Poly-Gly.				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccgctgccgcccccgccgcc	0.771000													11	4					4.68919e-08	5.46192e-08	0.008291	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882198	228882198	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:228882198G>A	ENST00000392056.3	-	7	3418	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	SPHKAP_ENST00000344657.5_Silent_p.S1124S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1124						cytoplasm	protein binding			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)		CATCGGTGATGCTCTCACAGC	0.547000													17	24					0	0	0.004007	0	0
C12orf50	160419	broad.mit.edu	37	12	88391905	88391905	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:88391905G>A	ENST00000298699.2	-	4	376	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	C12orf50_ENST00000550553.1_Silent_p.L66L	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	66								p.L66V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTTCAGAGGTTCTTGA	0.373000													22	6					0	0	0.002780	0	0
SORL1	6653	broad.mit.edu	37	11	121476192	121476192	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:121476192T>A	ENST00000260197.7	+	35	4989	c.4860T>A	c.(4858-4860)gaT>gaA	p.D1620E	SORL1_ENST00000532694.1_Missense_Mutation_p.D466E|SORL1_ENST00000527934.1_Missense_Mutation_p.D235E|SORL1_ENST00000525532.1_Missense_Mutation_p.D564E|SORL1_ENST00000534286.1_Missense_Mutation_p.D530E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1620	Fibronectin type-III 1.				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)		TGAAACCAGATACCACGTATC	0.443000													50	166					0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35968221C>A	ENST00000274278.3	-	3	568	c.211G>T	c.(211-213)Gaa>Taa	p.E71*	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.E37*|UGT3A1_ENST00000333811.4_Nonsense_Mutation_p.E17*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.E71*	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000													25	18					3.6726e-16	5.08216e-16	0.003954	1	0
PELI2	57161	broad.mit.edu	37	14	56757024	56757024	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:56757024G>T	ENST00000267460.4	+	5	832	c.546G>T	c.(544-546)atG>atT	p.M182I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	182					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACGGCCACATGGATGGGCTCA	0.537000													27	65					7.41945e-09	8.8092e-09	0.005443	1	0
CCDC54	84692	broad.mit.edu	37	3	107096857	107096857	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:107096857A>G	ENST00000261058.1	+	1	670	c.423A>G	c.(421-423)acA>acG	p.T141T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	141										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGAAGGTGACAGAACTGGAAA	0.383000													11	36					0	0	0.008291	0	0
ZNF267	10308	broad.mit.edu	37	16	31926245	31926245	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31926245G>C	ENST00000300870.10	+	4	884	c.675G>C	c.(673-675)ttG>ttC	p.L225F	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	225					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAACCTTGAACCAAAGCT	0.303000													10	12					0	0	0.006214	0	0
MCM8	84515	broad.mit.edu	37	20	5939246	5939246	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:5939246A>G	ENST00000378896.3	+	7	1040	c.663A>G	c.(661-663)ctA>ctG	p.L221L	MCM8_ENST00000265187.4_Silent_p.L221L|MCM8_ENST00000378886.2_Silent_p.L221L|MCM8_ENST00000378883.1_Silent_p.L221L	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACATTGCTCTAAGAGGGACAG	0.408000													8	42					0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092857	147092857	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:147092857G>A	ENST00000361727.3	+	10	2171	c.1655G>A	c.(1654-1656)tGt>tAt	p.C552Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	552	Laminin G-like 2.				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)			ATTGACATGTGTGCGATCATA	0.433000										HNSCC(39;0.1)			54	8					0	0	0.003610	0	0
UNC79	57578	broad.mit.edu	37	14	94044382	94044382	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94044382C>T	ENST00000553484.1	+	18	2560	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	UNC79_ENST00000393151.2_Silent_p.I802I|UNC79_ENST00000555664.1_Silent_p.I802I|UNC79_ENST00000256339.4_Silent_p.I625I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	802						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						ATTGTTTCATCCTCATGTTTG	0.408000													15	24					0	0	0.003163	0	0
MYH10	4628	broad.mit.edu	37	17	8408032	8408032	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:8408032C>T	ENST00000360416.3	-	28	3717	c.3579G>A	c.(3577-3579)acG>acA	p.T1193T	MYH10_ENST00000396239.1_Silent_p.T1183T|MYH10_ENST00000379980.4_Silent_p.T1178T|MYH10_ENST00000269243.4_Silent_p.T1162T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1162					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGGGCTGCCGTGGTGTCCA	0.607000													9	145					0	0	0.008291	0	0
HDAC4	9759	broad.mit.edu	37	2	240066304	240066304	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:240066304T>A	ENST00000345617.3	-	8	1631	c.840A>T	c.(838-840)ctA>ctT	p.L280L	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.L249L|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	280	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACGCTTTTTTAGAGCAGTGA	0.567000													4	70					0	0	0.009096	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929249	45929249	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:45929249C>A	ENST00000323084.4	-	10	1652	c.1587G>T	c.(1585-1587)tgG>tgT	p.W529C	TSPEAR_ENST00000397916.1_Missense_Mutation_p.W461C|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	529					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						GGAAGACCTCCCAGTCTGCAG	0.592000													35	4					8.69298e-16	1.19536e-15	0.006999	1	0
ZMIZ1	57178	broad.mit.edu	37	10	80976007	80976007	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:80976007G>A	ENST00000334512.5	+	7	828	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	86					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCAAACCGAGACAAGTTCAC	0.597000													16	4					0	0	0.004990	0	0
POTEC	388468	broad.mit.edu	37	18	14542843	14542843	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:14542843C>A	ENST00000358970.5	-	1	302	c.303G>T	c.(301-303)tgG>tgT	p.W101C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	101										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTGACAGCACCACTTGCCCA	0.622000													157	86					5.03958e-58	9.49452e-58	0.003610	1	0
KYNU	8942	broad.mit.edu	37	2	143715246	143715246	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:143715246A>T	ENST00000264170.4	+	7	802	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	KYNU_ENST00000375773.2_Missense_Mutation_p.N182Y|KYNU_ENST00000409512.1_Missense_Mutation_p.N182Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	182					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)	TCACGGACTTAACATTGAAGA	0.313000													8	22					0	0	0.004482	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048482	103048482	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:103048482G>T	ENST00000375735.2	+	38	6216	c.6072G>T	c.(6070-6072)atG>atT	p.M2024I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M2024I|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	2024	AAA 2 (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)		ATATTGACATGGACACAAGAG	0.393000													14	46					2.32078e-09	2.79091e-09	0.003163	1	0
USP19	10869	broad.mit.edu	37	3	49148462	49148462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:49148462C>A	ENST00000453664.1	-	23	3748	c.3430G>T	c.(3430-3432)Gcc>Tcc	p.A1144S	USP19_ENST00000417901.1_Missense_Mutation_p.A1156S|USP19_ENST00000434032.2_Missense_Mutation_p.A1154S|USP19_ENST00000398888.2_Missense_Mutation_p.A1053S|USP19_ENST00000398892.3_Missense_Mutation_p.A1093S|USP19_ENST00000398896.1_Missense_Mutation_p.A861S|USP19_ENST00000398898.2_Missense_Mutation_p.A1093S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1053					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGCCCGGGCAGCCTCACCG	0.622000													60	11					1.19403e-26	1.95686e-26	0.003610	1	0
AQP2	359	broad.mit.edu	37	12	50344880	50344880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50344880C>A	ENST00000199280.3	+	1	352	c.267C>A	c.(265-267)taC>taA	p.Y89*		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	89					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCGCCTTCTACGTGGCTGCCC	0.657000													22	5					1.87028e-06	2.08576e-06	0.001882	1	0
MC2R	4158	broad.mit.edu	37	18	13885081	13885081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:13885081C>A	ENST00000327606.3	-	2	617	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	146			R -> H (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.R146H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577000													46	9					3.54909e-21	5.41037e-21	0.002852	1	0
SCN10A	6336	broad.mit.edu	37	3	38766770	38766770	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38766770G>T	ENST00000449082.2	-	17	3122	c.3123C>A	c.(3121-3123)gaC>gaA	p.D1041E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1041					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGTCAGGTGGTCCCCACACC	0.577000													34	4					5.8336e-16	8.04423e-16	0.003271	1	0
MYO18B	84700	broad.mit.edu	37	22	26422693	26422693	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26422693G>T	ENST00000335473.7	+	43	7003	c.6753G>T	c.(6751-6753)tcG>tcT	p.S2251S	MYO18B_ENST00000407587.2_Silent_p.S2252S|MYO18B_ENST00000536101.1_Silent_p.S2251S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2251						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCCTCTCGGAGTTCGTGG	0.607000													41	1					6.5261e-18	9.38784e-18	0.008740	1	0
RIMS2	9699	broad.mit.edu	37	8	105263929	105263929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:105263929G>T	ENST00000507740.1	+	22	3609	c.3373G>T	c.(3373-3375)Gga>Tga	p.G1125*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.G1150*|RIMS2_ENST00000339750.2_Nonsense_Mutation_p.G247*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.G1329*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.G1311*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1373					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATGGTGATCGGATGGTTCAA	0.468000										HNSCC(12;0.0054)			250	137					5.49557e-122	1.06078e-121	0.003610	1	0
ZNF638	27332	broad.mit.edu	37	2	71576910	71576910	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:71576910G>T	ENST00000409544.1	+	2	1456	c.826G>T	c.(826-828)Ggt>Tgt	p.G276C	ZNF638_ENST00000355812.3_Missense_Mutation_p.G276C|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.G276C|ZNF638_ENST00000377802.2_Missense_Mutation_p.G276C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	276					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGACTTCCCCGGTGAGTCCTC	0.433000													44	67					9.39024e-22	1.44607e-21	0.009718	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113563455	113563455	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113563455G>T	ENST00000358160.4	+	2	625	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	45						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAAAACAGGGGCCAAATTT	0.363000													41	33					1.62957e-23	2.57197e-23	0.008740	1	0
ROPN1L	83853	broad.mit.edu	37	5	10465002	10465002	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:10465002C>A	ENST00000503804.1	+	6	1157	c.636C>A	c.(634-636)ttC>ttA	p.F212L	ROPN1L_ENST00000274134.4_Missense_Mutation_p.F212L|ROPN1L_ENST00000510520.1_Intron			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	212					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CAGATTTCTTCTTTCCAAAGA	0.318000													31	99					2.81731e-10	3.45569e-10	0.002096	1	0
KIAA1462	57608	broad.mit.edu	37	10	30316682	30316682	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:30316682G>T	ENST00000375377.1	-	3	2496	c.2395C>A	c.(2395-2397)Cgg>Agg	p.R799R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	799										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCACCTCCCGCTTAGGCCCA	0.612000													107	64					2.66069e-56	4.98403e-56	0.003610	1	0
CD1E	913	broad.mit.edu	37	1	158324271	158324271	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158324271G>T	ENST00000368160.3	+	2	163	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C	CD1E_ENST00000368163.3_Missense_Mutation_p.G55C|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G55C|CD1E_ENST00000368165.3_Missense_Mutation_p.G55C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.G55C|CD1E_ENST00000368161.3_Missense_Mutation_p.G55C|CD1E_ENST00000368156.1_Missense_Mutation_p.G55C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G53C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	55					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACACAGTGAGGGCTCAGGATG	0.567000													29	35					7.26314e-15	9.74868e-15	0.007291	1	0
MUC3A	4584	broad.mit.edu	37	7	100552241	100552241	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:100552241T>G	ENST00000319509.7	+	1	992	c.992T>G	c.(991-993)gTc>gGc	p.V331G						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATTACCATAGTCCCTGCCTCT	0.483000													93	126					0	0	0.003610	0	0
EZH2	2146	broad.mit.edu	37	7	148544290	148544290	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:148544290C>A	ENST00000320356.2	-	2	222	c.101G>T	c.(100-102)cGa>cTa	p.R34L	EZH2_ENST00000483967.1_Missense_Mutation_p.R34L|EZH2_ENST00000478654.1_Missense_Mutation_p.R34L|EZH2_ENST00000460911.1_Missense_Mutation_p.R34L|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R34L|EZH2_ENST00000350995.2_Missense_Mutation_p.R34L|EZH2_ENST00000476773.1_Missense_Mutation_p.R34L	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	34	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCATCAGCTCGTCTGAACCT	0.378000			Mis		DLBCL								77	83					3.41413e-29	5.73399e-29	0.003610	1	0
ENPEP	2028	broad.mit.edu	37	4	111441523	111441523	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:111441523G>A	ENST00000265162.5	+	10	2069		c.e10+1			NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)						cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGATCTTGGGTAAGGCTCTA	0.388000													14	26					0	0	0.003163	0	0
CELSR2	1952	broad.mit.edu	37	1	109792961	109792961	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:109792961A>G	ENST00000271332.3	+	1	321	c.260A>G	c.(259-261)cAc>cGc	p.H87R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	87					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACCCCACCACGATGGCCTG	0.632000													40	48					0	0	0.004878	0	0
HYAL1	3373	broad.mit.edu	37	3	50338129	50338129	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:50338129C>T	ENST00000266031.4	-	3	1708	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	HYAL1_ENST00000395143.2_Missense_Mutation_p.G335S|HYAL1_ENST00000320295.8_Missense_Mutation_p.G365S|HYAL1_ENST00000447605.2_Missense_Mutation_p.G106S|HYAL1_ENST00000395144.2_Missense_Mutation_p.G365S|HYAL1_ENST00000457214.2_Missense_Mutation_p.G183S			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	365	EGF-like.					extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CGGCCATGGCCGGAGCACAGG	0.617000													15	3					0	0	0.002450	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709678	38709678	+	RNA	SNP	C	C	T	rs148735877	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:38709678C>T	ENST00000417039.1	-	0	696																											TGTCTGCAGACTGGCTACCCA	0.512000													5	47					0	0	0.000602	0	0
SALL4	57167	broad.mit.edu	37	20	50406859	50406859	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:50406859C>G	ENST00000217086.4	-	2	2274	c.2163G>C	c.(2161-2163)acG>acC	p.T721T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	721					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAACCCTAGCGTGGGTGATG	0.597000													41	3					0	0	0.007835	0	0
IL2RA	3559	broad.mit.edu	37	10	6104107	6104107	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:6104107G>C	ENST00000379959.3	-	1	181	c.8C>G	c.(7-9)tCa>tGa	p.S3*	IL2RA_ENST00000256876.6_Nonsense_Mutation_p.S3*|IL2RA_ENST00000379954.1_Nonsense_Mutation_p.S3*	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	3					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGCAGGTATGAATCCATCTT	0.612000													13	47					0	0	0.004007	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251199	140251199	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:140251199A>T	ENST00000458420.3	+	9	1568	c.1378A>T	c.(1378-1380)Aat>Tat	p.N460Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	460					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTATGTCATCAATGTGGAGTT	0.383000										HNSCC(16;0.037)			54	47					0	0	0.003610	0	0
WDR27	253769	broad.mit.edu	37	6	170033143	170033143	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:170033143C>T	ENST00000333572.6	-	21	2642	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	WDR27_ENST00000448612.1_Missense_Mutation_p.R708Q|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R581Q			A2RRH5	WDR27_HUMAN	WD repeat domain 27	678										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGTCCTGTTCCGGCCAGCTGC	0.522000													15	2					0	0	0.003163	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013841	33013841	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:33013841C>A	ENST00000567619.1	-	0	499																											AAGCCTGGGGCCTCAGTGAAG	0.602000													17	54					1.01871e-10	1.26056e-10	0.008871	1	0
ABCC12	94160	broad.mit.edu	37	16	48174658	48174658	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:48174658G>T	ENST00000311303.3	-	4	942	c.597C>A	c.(595-597)tcC>tcA	p.S199S	ABCC12_ENST00000416054.1_Silent_p.S199S|ABCC12_ENST00000448542.1_Silent_p.S199S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	199	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)				AAACCAAGGTGGAGAGCGCCA	0.517000													47	20					1.47857e-17	2.10689e-17	0.003610	1	0
FAM171B	165215	broad.mit.edu	37	2	187604953	187604953	+	Splice_Site	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:187604953A>C	ENST00000304698.5	+	2	441		c.e2-1			NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B							integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTTCTCTCCAGTGTCTGTAT	0.368000													12	10					0	0	0.000978	0	0
METTL22	79091	broad.mit.edu	37	16	8722940	8722940	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:8722940G>C	ENST00000381920.3	+	3	745	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R	METTL22_ENST00000561758.1_Missense_Mutation_p.G107R	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	163							methyltransferase activity			large_intestine(5)|lung(4)	9						GGAAGCACAAGGCAGCCCGCA	0.547000													62	140					0	0	0.003610	0	0
MLLT10	8028	broad.mit.edu	37	10	21903816	21903816	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:21903816A>G	ENST00000377072.3	+	7	914	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	MLLT10_ENST00000377059.3_Missense_Mutation_p.Q189R|MLLT10_ENST00000307729.7_Missense_Mutation_p.Q189R|MLLT10_ENST00000446906.2_Missense_Mutation_p.Q189R	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	189	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATAATGTCCAATACTGTGGC	0.338000			T	"""MLL, PICALM, CDK6"""	AL								4	52					0	0	0.000602	0	0
SLC10A6	345274	broad.mit.edu	37	4	87746721	87746721	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:87746721T>A	ENST00000273905.6	-	5	918	c.771A>T	c.(769-771)acA>acT	p.T257T	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	257						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTAAGGAAATTGTCCTGCACC	0.378000													11	15					0	0	0.000978	0	0
TRPC7	57113	broad.mit.edu	37	5	135692480	135692480	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135692480T>A	ENST00000513104.1	-	2	878	c.596A>T	c.(595-597)aAg>aTg	p.K199M	TRPC7_ENST00000426057.2_Missense_Mutation_p.K199M|TRPC7_ENST00000355180.3_Missense_Mutation_p.K199M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	199					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCATTGCACTTGCAGAAGTA	0.607000													54	12					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141128289	141128289	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141128289G>T	ENST00000389484.3	-	71	11969	c.10998C>A	c.(10996-10998)aaC>aaA	p.N3666K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3666	LDL-receptor class A 29.				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)		CTCTTTCACAGTTCTCTTCAT	0.413000										TSP Lung(27;0.18)			45	107					1.81118e-26	2.96334e-26	0.003610	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841989	8841989	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:8841989C>A	ENST00000324060.2	+	1	674	c.599C>A	c.(598-600)tCc>tAc	p.S200Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGCGCTGTCCACCTCAGGG	0.582000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	89	11					2.00703e-41	3.62482e-41	0.003610	1	0
PRELP	5549	broad.mit.edu	37	1	203452734	203452734	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203452734T>C	ENST00000343110.2	+	2	549	c.422T>C	c.(421-423)aTa>aCa	p.I141T		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	141					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCCGCAAGATAGACCAGAGG	0.567000													38	76					0	0	0.006230	0	0
MYH1	4619	broad.mit.edu	37	17	10398511	10398511	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10398511C>T	ENST00000226207.5	-	36	5387	c.5293G>A	c.(5293-5295)Gat>Aat	p.D1765N	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	1765						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						TCACTCACATCAGTGATGGCC	0.458000													48	155					0	0	0.003610	0	0
OR4K13	390433	broad.mit.edu	37	14	20502266	20502266	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20502266A>T	ENST00000315693.2	-	1	653	c.652T>A	c.(652-654)Tat>Aat	p.Y218N		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGACTCCATAGGAGACAAGC	0.488000													51	9					0	0	0.003610	0	0
CCL23	6368	broad.mit.edu	37	17	34344875	34344875	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:34344875C>A	ENST00000293280.2	-	1	130	c.60G>T	c.(58-60)caG>caT	p.Q20H	CCL23_ENST00000591423.1_Missense_Mutation_p.Q20H	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	20				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TGACCCGGGCCTGGGATCCAA	0.587000													16	22					1.02788e-11	1.2989e-11	0.004990	1	0
ASAP1	50807	broad.mit.edu	37	8	131070229	131070229	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:131070229C>A	ENST00000357668.1	-	28	3313	c.3286G>T	c.(3286-3288)Gtc>Ttc	p.V1096F	ASAP1_ENST00000518721.1_Missense_Mutation_p.V1096F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1096	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.V1096I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCCCTGTGACGATAATCACT	0.498000													53	54					8.99859e-20	1.33552e-19	0.003610	1	0
NXT1	29107	broad.mit.edu	37	20	23334706	23334706	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23334706G>A	ENST00000254998.2	+	2	415	c.28G>A	c.(28-30)Gtg>Atg	p.V10M		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	10						cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAAGACCTATGTGGATCAGGC	0.557000													13	89					0	0	0.001855	0	0
TRPC5	7224	broad.mit.edu	37	X	111090614	111090614	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:111090614C>T	ENST00000262839.2	-	6	2346	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	476					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCCGCAATCAGAGTCGGGT	0.453000													13	5					0	0	0.002450	0	0
NBPF1	55672	broad.mit.edu	37	1	16907943	16907943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:16907943C>A	ENST00000430580.2	-	15	2238	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTTTCTCAGCCTCCTCA	0.433000													204	1722					9.4237e-28	1.56266e-27	0.003610	1	0
DNAH7	56171	broad.mit.edu	37	2	196681586	196681586	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:196681586T>A	ENST00000312428.6	-	51	9627	c.9527A>T	c.(9526-9528)aAg>aTg	p.K3176M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3176	AAA 5 (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						AGCCAAGGCCTTGGAGGAAGA	0.393000													18	27					0	0	0.007413	0	0
INSC	387755	broad.mit.edu	37	11	15197325	15197325	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:15197325T>A	ENST00000379554.3	+	3	282	c.236T>A	c.(235-237)aTg>aAg	p.M79K	INSC_ENST00000528567.1_Missense_Mutation_p.M32K|INSC_ENST00000424273.1_Missense_Mutation_p.M32K|INSC_ENST00000525218.1_Missense_Mutation_p.M32K|INSC_ENST00000530161.1_Missense_Mutation_p.M32K|INSC_ENST00000379556.3_Missense_Mutation_p.M32K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	79					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCGCTGGATGGAAGATCTG	0.537000													22	9					0	0	0.002780	0	0
SYNE3	161176	broad.mit.edu	37	14	95922041	95922041	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95922041G>A	ENST00000334258.5	-	5	824	c.810C>T	c.(808-810)ccC>ccT	p.P270P	SYNE3_ENST00000554873.1_Silent_p.P27P|SYNE3_ENST00000557275.1_Silent_p.P270P|SYNE3_ENST00000553340.1_Silent_p.P270P	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCTCGCCCCTGGGAAAATCTT	0.537000													32	50					0	0	0.002096	0	0
CHL1	10752	broad.mit.edu	37	3	447347	447347	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:447347G>A	ENST00000256509.2	+	28	4270	c.3628G>A	c.(3628-3630)Gtt>Att	p.V1210I	CHL1_ENST00000397491.2_Missense_Mutation_p.V1194I	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	1194					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)		GAAGGGATCTGTTGAAAGCAA	0.453000													35	7					0	0	0.005524	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675071	40675071	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:40675071T>G	ENST00000416151.2	+	1	150	c.35T>G	c.(34-36)gTt>gGt	p.V12G	KNSTRN_ENST00000249776.8_Missense_Mutation_p.V12G|KNSTRN_ENST00000448395.2_Missense_Mutation_p.V12G	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTGGACAGAGTTTTCCGTACA	0.592000													20	5					0	0	0.008871	0	0
TMEM67	91147	broad.mit.edu	37	8	94767119	94767119	+	Translation_Start_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:94767119T>A	ENST00000453321.3	+	0	35				TMEM67_ENST00000409623.3_De_novo_Start_OutOfFrame	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67						cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGCTGGAGGCTGTGAGGCTTC	0.652000													42	51					0	0	0.003214	0	0
LZTS3	9762	broad.mit.edu	37	20	3147616	3147616	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3147616T>C	ENST00000329152.3	-	1	1591	c.194A>G	c.(193-195)cAg>cGg	p.Q65R	LZTS3_ENST00000337576.5_Missense_Mutation_p.Q65R|LZTS3_ENST00000360342.3_Missense_Mutation_p.Q65R	NM_014731.2	NP_055546.1																					GAAACTGCCCTGGCTGCCCCC	0.706000													9	6					0	0	0.006214	0	0
ACP2	53	broad.mit.edu	37	11	47269242	47269242	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47269242G>C	ENST00000256997.3	-	3	363	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	ACP2_ENST00000533929.1_Missense_Mutation_p.L55V|ACP2_ENST00000527256.1_Missense_Mutation_p.L51V|ACP2_ENST00000530453.1_Missense_Mutation_p.L83V|ACP2_ENST00000529788.1_Missense_Mutation_p.L83V|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000444355.2_Missense_Mutation_p.L83V|ACP2_ENST00000529444.1_Missense_Mutation_p.L83V	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	83						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CGCTGCCGCAGGGCCTGGCCC	0.592000													18	42					0	0	0.008871	0	0
CCSER1	401145	broad.mit.edu	37	4	91230220	91230220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:91230220C>A	ENST00000509176.1	+	2	1073	c.785C>A	c.(784-786)gCc>gAc	p.A262D	CCSER1_ENST00000333691.8_Missense_Mutation_p.A262D|CCSER1_ENST00000432775.2_Missense_Mutation_p.A262D	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GAATTTTTAGCCTTGACTGAA	0.438000													52	81					2.43139e-17	3.44214e-17	0.003610	1	0
GNPDA2	132789	broad.mit.edu	37	4	44720409	44720409	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44720409C>A	ENST00000509756.1	-	3	249	c.143G>T	c.(142-144)tGc>tTc	p.C48F	GNPDA2_ENST00000295448.3_Missense_Mutation_p.C48F|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Intron|GNPDA2_ENST00000507534.1_5'UTR			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	48					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TTTTTTATAGCATCCTAAAGG	0.244000													7	19					1.06961e-07	1.23926e-07	0.003080	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409178	56409178	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56409178G>A	ENST00000544374.1	-	1	769	c.741C>T	c.(739-741)acC>acT	p.T247T	OR5AP2_ENST00000302981.1_Silent_p.T246T			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAGAGGCACAGGTGGAGAAGG	0.468000													61	38					0	0	0.003610	0	0
MMAB	326625	broad.mit.edu	37	12	109999611	109999611	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:109999611C>G	ENST00000545712.2	-	5	788	c.395G>C	c.(394-396)tGc>tCc	p.C132S	MMAB_ENST00000266839.5_Missense_Mutation_p.C41S|MMAB_ENST00000540016.1_Missense_Mutation_p.C80S	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	132					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCGAGGAGCATGGTGTCGC	0.582000													3	1					0	0	0.004672	0	0
COMMD2	51122	broad.mit.edu	37	3	149470067	149470067	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:149470067G>A	ENST00000473414.1	-	2	129	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	25							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCCAAACTCGGCGACCACTG	0.617000													78	54					0	0	0.003610	0	0
G6PD	2539	broad.mit.edu	37	X	153762266	153762266	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153762266C>G	ENST00000393562.2	-	7	1227	c.844G>C	c.(844-846)Gaa>Caa	p.E282Q	G6PD_ENST00000393564.2_Missense_Mutation_p.E252Q|G6PD_ENST00000369620.2_Missense_Mutation_p.E252Q	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	252			D -> H (in Seattle; class III).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCCCAAATTCATCGAAATAG	0.592000													33	11					0	0	0.003271	0	0
PGM5	5239	broad.mit.edu	37	9	71114172	71114172	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:71114172A>T	ENST00000396396.1	+	10	1738	c.1509A>T	c.(1507-1509)tcA>tcT	p.S503S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	503					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGGATGCATCACGGCTCATCT	0.527000													80	23					0	0	0.003610	0	0
RTKN	6242	broad.mit.edu	37	2	74654377	74654377	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74654377C>T	ENST00000305557.5	-	12	1825	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	RTKN_ENST00000272430.5_Missense_Mutation_p.E427K|RTKN_ENST00000233330.6_Missense_Mutation_p.E377K	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	427	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTCATGATTTCATCACAGCAC	0.493000													22	39					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179613054	179613054	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179613054A>G	ENST00000360870.5	-	46	14295	c.14073T>C	c.(14071-14073)agT>agC	p.S4691S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	804	Ig-like 27.						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)			CATCAATACTACTTTTCTCCA	0.308000													17	29					0	0	0.004007	0	0
KALRN	8997	broad.mit.edu	37	3	123987871	123987871	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:123987871G>T	ENST00000360013.3	+	5	859	c.732G>T	c.(730-732)gaG>gaT	p.E244D	KALRN_ENST00000240874.3_Missense_Mutation_p.E244D|KALRN_ENST00000460856.1_Missense_Mutation_p.E244D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	244					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						CTGTGGAGGAGCTGGACCGGG	0.627000													15	10					4.14922e-12	5.27375e-12	0.004007	1	0
ABI3BP	25890	broad.mit.edu	37	3	100621464	100621464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:100621464G>T	ENST00000471714.1	-	3	456	c.347C>A	c.(346-348)tCa>tAa	p.S116*	ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.S116*|ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.S116*|ABI3BP_ENST00000532144.1_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	116						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GACTATACCTGAACATGACTT	0.398000													7	11					2.0095e-06	2.23974e-06	0.001984	1	0
METTL18	92342	broad.mit.edu	37	1	169762469	169762469	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:169762469C>A	ENST00000310392.4	-	2	721	c.368G>T	c.(367-369)gGt>gTt	p.G123V	METTL18_ENST00000303469.2_Missense_Mutation_p.G123V|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	123						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						ATGCTGGAAACCTGGTAATGT	0.373000													20	26					5.03518e-11	6.278e-11	0.007413	1	0
DCAF4	26094	broad.mit.edu	37	14	73408452	73408452	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:73408452G>C	ENST00000553457.1	+	4	341		c.e4-1		DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000353777.3_Intron			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AATAAATATAGATTGCCAGGA	0.368000													26	72					0	0	0.005443	0	0
GABRA2	2555	broad.mit.edu	37	4	46334653	46334653	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46334653G>T	ENST00000510861.1	-	4	407	c.234C>A	c.(232-234)ggC>ggA	p.G78G	GABRA2_ENST00000356504.1_Silent_p.G78G|GABRA2_ENST00000507069.1_Silent_p.G78G|GABRA2_ENST00000381620.4_Silent_p.G78G|GABRA2_ENST00000514090.1_Silent_p.G78G|GABRA2_ENST00000515082.1_Silent_p.G78G|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	78					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGAGACAGGGCCAAAACTGG	0.333000													12	51					2.61681e-11	3.28146e-11	0.002450	1	0
EPHX4	253152	broad.mit.edu	37	1	92528763	92528763	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:92528763T>A	ENST00000370383.4	+	7	1107	c.1009T>A	c.(1009-1011)Tgg>Agg	p.W337R		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	337						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						AGCCAGTCATTGGCTTCAGCA	0.353000													15	51					0	0	0.007413	0	0
ZEB2	9839	broad.mit.edu	37	2	145157187	145157187	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:145157187T>A	ENST00000558170.2	-	8	2751	c.1567A>T	c.(1567-1569)Aaa>Taa	p.K523*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.K523*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.K523*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.K499*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	523						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.K523E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATAATACTTTTAGTGGCACCA	0.423000													19	57					0	0	0.006122	0	0
MIR512-2	574459	broad.mit.edu	37	19	54172495	54172495	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54172495C>A	ENST00000384912.1	+	0	85					NR_030180.1|NR_030181.1																						GGTCCAATGACTGAGGCGAGC	0.572000													26	74					5.91797e-21	8.98671e-21	0.002445	1	0
POMK	84197	broad.mit.edu	37	8	42977541	42977541	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:42977541C>G	ENST00000331373.5	+	5	829	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		192	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CATTAATTACCTGCACCACAG	0.502000													16	48					0	0	0.004990	0	0
DZIP3	9666	broad.mit.edu	37	3	108363525	108363525	+	Missense_Mutation	SNP	G	G	T	rs145724685	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:108363525G>T	ENST00000361582.3	+	14	1886	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E552D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	552					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGTGAAGGAGAATCCCATTG	0.403000													25	58					1.1804e-14	1.5811e-14	0.003954	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716747	142716747	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:142716747G>T	ENST00000381779.4	-	2	2403	c.2178C>A	c.(2176-2178)gaC>gaA	p.D726E	SLITRK4_ENST00000338017.4_Missense_Mutation_p.D726E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.D726E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	726						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTCCTTGTCGGCCACAT	0.418000													37	17					3.93418e-24	6.25965e-24	0.004289	1	0
SDK1	221935	broad.mit.edu	37	7	3991467	3991467	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:3991467G>T	ENST00000404826.2	+	7	1204	c.1065G>T	c.(1063-1065)gcG>gcT	p.A355A	SDK1_ENST00000389531.3_Silent_p.A355A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	355	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGACGTCCGCGGACACCGGGC	0.612000													45	10					1.00776e-21	1.54586e-21	0.003610	1	0
RFPL1	5988	broad.mit.edu	37	22	29834927	29834927	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:29834927A>C	ENST00000354373.2	+	1	356	c.147A>C	c.(145-147)aaA>aaC	p.K49N	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	49							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ATCTAGAGAAACCAATGTCCC	0.512000													70	11					0	0	0.003610	0	0
CDH4	1002	broad.mit.edu	37	20	60509225	60509225	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:60509225C>A	ENST00000360469.5	+	15	2579	c.2491C>A	c.(2491-2493)Ccg>Acg	p.P831T	CDH4_ENST00000543233.1_Missense_Mutation_p.P757T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	831					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCAGTACCCGATCAGGCC	0.677000													47	6					3.39706e-21	5.18665e-21	0.003610	1	0
FAT4	79633	broad.mit.edu	37	4	126408659	126408659	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126408659A>G	ENST00000394329.3	+	16	12989	c.12976A>G	c.(12976-12978)Aga>Gga	p.R4326G	FAT4_ENST00000335110.5_Missense_Mutation_p.R2567G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4326	Laminin G-like 2.				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						AATATATAACAGAGATATTAT	0.418000													8	19					0	0	0.003080	0	0
C3	718	broad.mit.edu	37	19	6686289	6686289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:6686289C>A	ENST00000245907.6	-	29	3748	c.3656G>T	c.(3655-3657)cGc>cTc	p.R1219L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1219					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCCTCCCAGCGGTTCTTATC	0.542000													37	82					1.60099e-16	2.228e-16	0.004878	1	0
SLC4A1	6521	broad.mit.edu	37	17	42332001	42332001	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:42332001C>G	ENST00000262418.6	-	16	2075	c.1920G>C	c.(1918-1920)gtG>gtC	p.V640V		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	640	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGAGTTGGACACCTTGAAGC	0.617000													22	2					0	0	0.010504	0	0
NBPF20	100288142	broad.mit.edu	37	1	148344650	148344650	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:148344650C>T	ENST00000369202.1	-	3	465	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTGAGCTCCTCAGCTTGCTTG	0.517000													160	997					0	0	0.003610	0	0
HSPA12A	259217	broad.mit.edu	37	10	118464790	118464790	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118464790C>A	ENST00000369209.3	-	3	231		c.e3-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A								ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAGTGTCGTTCTGCAGATATA	0.582000													77	24					9.90312e-32	1.69953e-31	0.003610	1	0
WDR35	57539	broad.mit.edu	37	2	20173368	20173368	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20173368C>A	ENST00000345530.3	-	8	953	c.838G>T	c.(838-840)Gac>Tac	p.D280Y	WDR35_ENST00000281405.4_Missense_Mutation_p.D280Y|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	280										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTTGTCCTGCATGGCT	0.453000													12	48					4.3838e-07	4.97067e-07	0.001855	1	0
MYO18B	84700	broad.mit.edu	37	22	26294316	26294316	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26294316G>T	ENST00000335473.7	+	29	4961	c.4711G>T	c.(4711-4713)Gct>Tct	p.A1571S	CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1572S|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1571S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1571	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGAAGATGGCTCACCAACT	0.488000													104	8					2.97704e-61	5.63572e-61	0.003610	1	0
KCNK2	3776	broad.mit.edu	37	1	215408333	215408333	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:215408333G>C	ENST00000444842.2	+	7	1276	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	KCNK2_ENST00000391894.2_Missense_Mutation_p.E361Q|KCNK2_ENST00000391895.2_Missense_Mutation_p.E372Q	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	376	Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCACAATCAGGAGCTGACTCC	0.537000													13	7					0	0	0.001368	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588798	33588798	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33588798G>T	ENST00000504830.1	-	18	3106	c.2771C>A	c.(2770-2772)aCa>aAa	p.T924K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T839K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	924	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGCAGTCTGTGGGCGGGAG	0.627000										HNSCC(64;0.19)			31	207					5.60225e-13	7.22812e-13	0.009535	1	0
AFMID	125061	broad.mit.edu	37	17	76201752	76201752	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:76201752G>A	ENST00000409257.5	+	9	767	c.713G>A	c.(712-714)cGt>cAt	p.R238H	AFMID_ENST00000327898.5_Missense_Mutation_p.R238H|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	238						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCACCTGCCGTGTGCTGGTG	0.647000													32	6					0	0	0.002445	0	0
ZFAT	57623	broad.mit.edu	37	8	135614607	135614607	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:135614607C>A	ENST00000520727.1	-	7	1618	c.1319G>T	c.(1318-1320)aGg>aTg	p.R440M	ZFAT_ENST00000523399.1_Missense_Mutation_p.R390M|ZFAT_ENST00000520214.1_Missense_Mutation_p.R440M|ZFAT_ENST00000377838.3_Missense_Mutation_p.R452M|ZFAT_ENST00000520356.1_Missense_Mutation_p.R440M|ZFAT_ENST00000429442.2_Missense_Mutation_p.R440M	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGGTGCTTCCTGACATGCAG	0.612000													17	27					3.52763e-06	3.90524e-06	0.004990	1	0
SNHG14	104472715	broad.mit.edu	37	15	25456894	25456894	+	RNA	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25456894A>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGGTGAGCACATCCGGGTCCC	0.582000													33	95					0	0	0.009535	0	0
MATN2	4147	broad.mit.edu	37	8	98943632	98943632	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:98943632G>T	ENST00000254898.5	+	3	825	c.594G>T	c.(592-594)caG>caT	p.Q198H	MATN2_ENST00000521689.1_Missense_Mutation_p.Q198H|MATN2_ENST00000520016.1_Missense_Mutation_p.Q198H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.Q198H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	198	VWFA 1.					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)			GTGTGGGCCAGGTAGACTTCA	0.552000													15	27					3.27435e-08	3.823e-08	0.002450	1	0
LPHN3	23284	broad.mit.edu	37	4	62935844	62935844	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62935844G>C	ENST00000512091.1	+	26	4427	c.3680G>C	c.(3679-3681)tGc>tCc	p.C1227S	LPHN3_ENST00000506700.1_Missense_Mutation_p.C1218S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A1253P|LPHN3_ENST00000506720.1_Missense_Mutation_p.A1321P|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1286S|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1270S|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1295S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A1312P|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1261S|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1329S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A1210P|LPHN3_ENST00000514996.1_Missense_Mutation_p.A1244P|LPHN3_ENST00000507625.1_Missense_Mutation_p.A1269P|LPHN3_ENST00000514591.1_Missense_Mutation_p.A1210P|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1338S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGAACAATGCCAGGGATAC	0.413000													17	24					0	0	0.010504	0	0
PCDH12	51294	broad.mit.edu	37	5	141334615	141334615	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:141334615G>C	ENST00000231484.3	-	1	4012	c.2802C>G	c.(2800-2802)agC>agG	p.S934R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	934					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGACCAGGCTCCGCAGGA	0.627000													33	8					0	0	0.005524	0	0
ANO4	121601	broad.mit.edu	37	12	101295615	101295615	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:101295615C>A	ENST00000392979.3	+	2	413	c.52C>A	c.(52-54)Cca>Aca	p.P18T	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P18T|ANO4_ENST00000538618.1_Missense_Mutation_p.P184T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	18						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						AGTCTTCCACCCAGGTGATGC	0.458000										HNSCC(74;0.22)			33	47					4.3181e-19	6.3511e-19	0.002836	1	0
A3GALT2	127550	broad.mit.edu	37	1	33772993	33772993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:33772993G>A	ENST00000442999.3	-	5	396	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000588828.1_RNA|A3GALT2_ENST00000330379.5_Nonsense_Mutation_p.Q78*	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				ATCACGCTCTGGCCCGCCATG	0.697000													25	75					0	0	0.007291	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532028	84532028	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:84532028C>A	ENST00000527857.1	+	0	2050					NR_026851.1																						TCCATGTTCCCATCTCCATCA	0.483000													42	10					6.68952e-21	1.01349e-20	0.003214	1	0
VARS	7407	broad.mit.edu	37	6	31749678	31749678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:31749678C>A	ENST00000375663.3	-	19	2733	c.2293G>T	c.(2293-2295)Gag>Tag	p.E765*	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	765					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGCCTTCTCCCGGGCCTCC	0.627000													186	102					5.28991e-74	1.01116e-73	0.003610	1	0
CST5	1473	broad.mit.edu	37	20	23856830	23856830	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23856830C>G	ENST00000304710.4	-	3	497	c.424G>C	c.(424-426)Gtc>Ctc	p.V142L		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	142						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GACCCCTAGACTTTCCGGCAC	0.542000													27	79					0	0	0.008361	0	0
NOVA1	4857	broad.mit.edu	37	14	26917170	26917170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:26917170C>A	ENST00000539517.2	-	5	1836	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C	NOVA1_ENST00000465357.2_Missense_Mutation_p.G483C|NOVA1_ENST00000267422.7_Missense_Mutation_p.G385C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	510					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCACTCAACCCACTTTCTGA	0.428000													89	35					6.03386e-27	9.9052e-27	0.003610	1	0
GRID1	2894	broad.mit.edu	37	10	87379728	87379728	+	Silent	SNP	C	C	T	rs142646668	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:87379728C>T	ENST00000327946.7	-	14	2341	c.2256G>A	c.(2254-2256)acG>acA	p.T752T	GRID1_ENST00000536331.1_Silent_p.T323T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	752						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGTCGTCATCCGTCAGGGCTG	0.567000										Multiple Myeloma(13;0.14)			41	7					0	0	0.002522	0	0
VSTM4	196740	broad.mit.edu	37	10	50272760	50272760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50272760C>A	ENST00000332853.3	-	5	679	c.656G>T	c.(655-657)tGc>tTc	p.C219F		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	219						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTTCTGAGGGCATTTCACCAA	0.308000													23	34					2.21704e-12	2.8344e-12	0.002780	1	0
FSHR	2492	broad.mit.edu	37	2	49190604	49190604	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:49190604G>T	ENST00000406846.2	-	10	1475	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	FSHR_ENST00000304421.4_Silent_p.A426A|FSHR_ENST00000541117.1_Silent_p.A188A|FSHR_ENST00000346173.3_Silent_p.A390A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	452					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACAGCTCACTGGCAAAGACAG	0.507000									Gonadal Dysgenesis, 46 XX				12	35					0.00010058	0.000107122	0.001368	1	0
DUSP22	56940	broad.mit.edu	37	6	350826	350826	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:350826T>G	ENST00000344450.5	+	8	956	c.513T>G	c.(511-513)gcT>gcG	p.A171A	DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	171					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCACAGCCGCTCCGGGAATTC	0.398000													19	67					0	0	0.003330	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052023	36052023	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:36052023C>A	ENST00000282507.3	-	3	361	c.260G>T	c.(259-261)aGa>aTa	p.R87I	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R53I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	87						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)			TTTAAATTCTCTTTGATGATC	0.284000													8	73					0.000157383	0.000166896	0.003080	1	0
NELL2	4753	broad.mit.edu	37	12	45173785	45173785	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:45173785C>A	ENST00000429094.2	-	4	860	c.356G>T	c.(355-357)aGt>aTt	p.S119I	NELL2_ENST00000395487.2_Missense_Mutation_p.S118I|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.S119I|NELL2_ENST00000551601.1_Missense_Mutation_p.S118I|NELL2_ENST00000437801.2_Missense_Mutation_p.S169I|NELL2_ENST00000549027.1_Missense_Mutation_p.S118I|NELL2_ENST00000333837.4_Missense_Mutation_p.S142I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	119	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCGATGGCCACTACTTTCCAG	0.468000													46	18					2.77807e-22	4.30513e-22	0.003214	1	0
BMPER	168667	broad.mit.edu	37	7	34091553	34091553	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:34091553T>A	ENST00000297161.2	+	9	1131	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	BMPER_ENST00000426693.1_Missense_Mutation_p.Y253N|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	253	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCATTTCTGTACGATAACTG	0.473000													99	58					0	0	0.003610	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284445	52284445	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52284445A>C	ENST00000301190.6	+	5	942	c.715A>C	c.(715-717)Acc>Ccc	p.T239P	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.T45P|ANKRD33_ENST00000340970.4_Missense_Mutation_p.T114P	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	114										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAGCTTCGACACCGTGTGGAG	0.657000													8	22					0	0	0.006214	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602570	18602570	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:18602570G>T	ENST00000546162.2	+	0	1144					NR_003569.1																						CCTTCCTCCTGGGGACCCTCA	0.597000													32	49					1.26612e-14	1.69361e-14	0.003271	1	0
SDHD	6392	broad.mit.edu	37	11	111959687	111959687	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:111959687C>G	ENST00000375549.3	+	3	401	c.266C>G	c.(265-267)tCt>tGt	p.S89C	SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528021.1_Missense_Mutation_p.S89C|SDHD_ENST00000525291.1_Missense_Mutation_p.S50C|SDHD_ENST00000528182.1_Missense_Mutation_p.S89C|SDHD_ENST00000526592.1_Missense_Mutation_p.S89C|SDHD_ENST00000532699.1_Missense_Mutation_p.S89C	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	89					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	AATCCTTGCTCTGCGATGGAC	0.507000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				21	58					0	0	0.010504	0	0
AKAP6	9472	broad.mit.edu	37	14	33292940	33292940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:33292940G>T	ENST00000280979.4	+	13	6091	c.5921G>T	c.(5920-5922)aGc>aTc	p.S1974I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1974					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAAATCAAAGCACTGCCTCT	0.388000													36	44					6.29468e-14	8.26809e-14	0.004878	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292382	89292382	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:89292382G>T	ENST00000495489.1	-	0	68																											CCCAGGAGCTGAGCGGGGACC	0.557000													41	67					5.44703e-19	7.98166e-19	0.009718	1	0
NAALADL2	254827	broad.mit.edu	37	3	175184802	175184802	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:175184802G>T	ENST00000454872.1	+	8	1491	c.1363G>T	c.(1363-1365)Gca>Tca	p.A455S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	455					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCATCACACTGCACACAGTTA	0.388000													41	149					2.77807e-22	4.30513e-22	0.003214	1	0
PBX1	5087	broad.mit.edu	37	1	164532548	164532548	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:164532548G>T	ENST00000420696.2	+	2	453	c.265_splice	c.e2+1	p.V89_splice	PBX1_ENST00000540236.1_Splice_Site_p.V89_splice|PBX1_ENST00000559240.1_Splice_Site_p.V89_splice|PBX1_ENST00000367897.1_Splice_Site_p.V89_splice|PBX1_ENST00000401534.1_Splice_Site_p.V89_splice	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	89		Breakpoint for translocation to form CAA67062A-PBX1 oncogene.			negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAAAACAGGTAGGAATGA	0.313000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								23	43					7.87624e-14	1.03317e-13	0.002780	1	0
CYP2B6	1555	broad.mit.edu	37	19	41518391	41518391	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41518391G>T	ENST00000324071.4	+	7	1159		c.e7+1		CYP2B6_ENST00000593831.1_Splice_Site|CYP2B6_ENST00000330446.5_Splice_Site	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6						cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CATCCCCAAGGTAAGACCGGC	0.512000													42	10					4.67007e-22	7.22005e-22	0.008740	1	0
ZNF141	7700	broad.mit.edu	37	4	367427	367427	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:367427G>T	ENST00000240499.7	+	4	1350	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	401					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.393000													17	61					2.23348e-06	2.47815e-06	0.004007	1	0
OR4M1	441670	broad.mit.edu	37	14	20248716	20248716	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20248716C>G	ENST00000315957.4	+	1	316	c.235C>G	c.(235-237)Cct>Gct	p.P79A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTACAGCCCCTAAAATGCT	0.443000													139	610					0	0	0.003610	0	0
ACADM	34	broad.mit.edu	37	1	76199314	76199314	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76199314G>T	ENST00000370841.4	+	5	824		c.e5+1		ACADM_ENST00000541113.1_Splice_Site|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000420607.2_Splice_Site|ACADM_ENST00000370834.5_Splice_Site	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTCTTTGGGGGTAAGTGACTT	0.358000													12	41					0.00010058	0.000107122	0.001368	1	0
TCERG1	10915	broad.mit.edu	37	5	145838514	145838514	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:145838514A>T	ENST00000296702.5	+	4	544	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q169L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	169	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGTTATTCAGCAATCAGAA	0.522000													65	18					0	0	0.003610	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497764	95497764	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:95497764C>A	ENST00000432432.2	-	0	1079					NR_040113.1																						TCTCCTTGTCCATTGACTATT	0.458000													60	164					5.08636e-23	7.95757e-23	0.003610	1	0
HAPLN3	145864	broad.mit.edu	37	15	89421289	89421289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:89421289C>A	ENST00000359595.3	-	5	1209	c.995G>T	c.(994-996)tGt>tTt	p.C332F	HAPLN3_ENST00000562889.1_Missense_Mutation_p.C394F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	332	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGGGGCCCACAGTTAGGATG	0.652000													74	23					9.63364e-24	1.52539e-23	0.003610	1	0
AP2M1	1173	broad.mit.edu	37	3	183896818	183896818	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183896818A>G	ENST00000382456.3	+	3	562	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.Y108C|AP2M1_ENST00000292807.5_Missense_Mutation_p.Y83C|AP2M1_ENST00000439647.1_Missense_Mutation_p.Y83C	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	83					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAATTCCTCTATAAGATGTGT	0.483000													44	94					0	0	0.002852	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382344	101382344	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101382344G>A	ENST00000372780.1	+	3	761	c.542G>A	c.(541-543)aGg>aAg	p.R181K	TCEAL2_ENST00000329035.2_Missense_Mutation_p.R181K	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAGGATAAAAGGAGAAAAAGC	0.433000													42	16					0	0	0.002522	0	0
ZIM3	114026	broad.mit.edu	37	19	57646867	57646867	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57646867G>T	ENST00000269834.1	-	5	1223	c.838C>A	c.(838-840)Cag>Aag	p.Q280K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTACACTGATAGGATTTC	0.378000													56	42					1.11015e-26	1.8209e-26	0.003610	1	0
SLC6A4	6532	broad.mit.edu	37	17	28530283	28530283	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:28530283G>A	ENST00000401766.2	-	13	2237	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SLC6A4_ENST00000261707.3_Silent_p.I575I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	575					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AACCCAAGATGATACTCCAGT	0.388000													69	44					0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216262534	216262534	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:216262534C>G	ENST00000354785.4	-	22	3755	c.3386G>C	c.(3385-3387)cGa>cCa	p.R1129P	FN1_ENST00000357009.2_Missense_Mutation_p.R1129P|FN1_ENST00000346544.3_Missense_Mutation_p.R1129P|FN1_ENST00000345488.5_Missense_Mutation_p.R1129P|FN1_ENST00000323926.6_Missense_Mutation_p.R1129P|FN1_ENST00000446046.1_Missense_Mutation_p.R1129P|FN1_ENST00000443816.1_Missense_Mutation_p.R1129P|FN1_ENST00000356005.4_Missense_Mutation_p.R1129P|FN1_ENST00000432072.2_Missense_Mutation_p.R1129P|FN1_ENST00000421182.1_Missense_Mutation_p.R1129P|FN1_ENST00000359671.1_Missense_Mutation_p.R1129P|FN1_ENST00000357867.4_Missense_Mutation_p.R1129P|FN1_ENST00000336916.4_Missense_Mutation_p.R1129P			P02751	FINC_HUMAN	fibronectin 1	1129	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCACTTCTCGTGGTGCCTC	0.498000													23	39					0	0	0.007291	0	0
MGAT5B	146664	broad.mit.edu	37	17	74902137	74902137	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:74902137G>T	ENST00000569840.2	+	8	1467	c.893G>T	c.(892-894)gGg>gTg	p.G298V	MGAT5B_ENST00000428789.2_Missense_Mutation_p.G309V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G298V|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	298						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGAGTCCGGGGACGTGTTC	0.667000													51	20					1.27334e-21	1.95172e-21	0.003610	1	0
GFOD2	81577	broad.mit.edu	37	16	67709088	67709088	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:67709088C>A	ENST00000268797.7	-	3	1473	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	376						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTGCCTCACACAGGTTCTGGT	0.627000													43	28					6.21074e-16	8.55828e-16	0.002852	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148743716	148743716	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:148743716G>A	ENST00000514349.1	+	2	722	c.143G>A	c.(142-144)gGc>gAc	p.G48D	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G138D			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	138					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTATGGCATCAGCTTC	0.612000													38	8					0	0	0.005524	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809552	14809552	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:14809552C>G	ENST00000261170.3	-	12	1501		c.e12-1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTATATTTTCTGTGAAAGGA	0.373000													35	6					0	0	0.002836	0	0
HARBI1	283254	broad.mit.edu	37	11	46625147	46625147	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:46625147T>C	ENST00000326737.3	-	3	1230	c.983A>G	c.(982-984)cAc>cGc	p.H328R		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	328						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GGACTCCATGTGCTCATACTC	0.522000													50	12					0	0	0.003610	0	0
OMP	4975	broad.mit.edu	37	11	76814343	76814343	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:76814343A>G	ENST00000529803.1	+	1	458	c.458A>G	c.(457-459)aAc>aGc	p.N153S	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	153					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGCCCGCCAACCTCAAGGCC	0.632000													70	49					0	0	0.003610	0	0
KCNMA1	3778	broad.mit.edu	37	10	78832898	78832898	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:78832898G>T	ENST00000286627.5	-	14	2658	c.1706C>A	c.(1705-1707)tCc>tAc	p.S569Y	KCNMA1_ENST00000404771.3_Missense_Mutation_p.S569Y|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S569Y|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S569Y|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S569Y|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S569Y|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S569Y|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S569Y	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	569	Segment S7.				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)	AAGCATGGTGGAGAGGCCTTG	0.507000													24	5					7.87624e-14	1.03317e-13	0.002780	1	0
ANO3	63982	broad.mit.edu	37	11	26556081	26556081	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:26556081C>G	ENST00000256737.3	+	9	1800	c.948C>G	c.(946-948)acC>acG	p.T316T	ANO3_ENST00000531568.1_Silent_p.T170T|ANO3_ENST00000525139.1_Silent_p.T300T|ANO3_ENST00000537978.1_Silent_p.T300T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	316						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						TGGAACGCACCAAATATGAAA	0.323000													43	8					0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101916	69101916	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:69101916C>T	ENST00000332644.5	-	3	354	c.193G>A	c.(193-195)Gca>Aca	p.A65T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	65	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTGAAGCTGCGTTTTCACAA	0.279000													4	9					0	0	0.009096	0	0
PAX7	5081	broad.mit.edu	37	1	19029612	19029612	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:19029612C>G	ENST00000420770.2	+	7	1060	c.977C>G	c.(976-978)cCt>cGt	p.P326R	PAX7_ENST00000400661.3_Missense_Mutation_p.P324R|PAX7_ENST00000375375.3_Missense_Mutation_p.P326R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	326					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GTGCACCGGCCTCAGCCCCTG	0.667000			T	FOXO1A	alveolar rhabdomyosarcoma								17	37					0	0	0.001882	0	0
INTU	27152	broad.mit.edu	37	4	128608933	128608933	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:128608933C>T	ENST00000335251.5	+	8	1463	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	454										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGCGCCAGTCCCAGTGCTCA	0.473000													26	35					0	0	0.003330	0	0
IL7R	3575	broad.mit.edu	37	5	35876488	35876488	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35876488C>T	ENST00000303115.3	+	8	1409	c.1280C>T	c.(1279-1281)aCa>aTa	p.T427I	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	427					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGAATCCTGACATTGAACCCA	0.502000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	80					0	0	0.002096	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739654	34739654	+	RNA	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:34739654G>C	ENST00000562591.1	-	0	268					NR_034019.1																						TCCAAATACTGTAGTAATATT	0.403000													3	8					0	0	0.004672	0	0
STK11IP	114790	broad.mit.edu	37	2	220479832	220479832	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220479832C>T	ENST00000456909.1	+	24	2976	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	STK11IP_ENST00000295641.10_Silent_p.L973L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	973					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCTGCCTCGTATCCCTGT	0.632000													5	14					0	0	0.000602	0	0
KANK4	163782	broad.mit.edu	37	1	62739543	62739543	+	Missense_Mutation	SNP	G	G	T	rs143096938		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:62739543G>T	ENST00000371153.4	-	3	1611	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	411										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCACCATCACGTCCGTCTGGC	0.517000													108	82					2.21257e-79	4.24579e-79	0.003610	1	0
FRY	10129	broad.mit.edu	37	13	32802711	32802711	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:32802711G>T	ENST00000380250.3	+	40	5821	c.5325G>T	c.(5323-5325)atG>atT	p.M1775I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCCACAGATGACCCAGGAGG	0.532000													49	17					3.77016e-25	6.07741e-25	0.003214	1	0
ASTL	431705	broad.mit.edu	37	2	96798378	96798378	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:96798378C>A	ENST00000342380.2	-	6	537	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	180					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCATGAAGGACAATGCCCCGG	0.637000													49	72					9.55421e-19	1.39376e-18	0.003610	1	0
RGS6	9628	broad.mit.edu	37	14	72961952	72961952	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72961952T>G	ENST00000553530.1	+	13	1154	c.947T>G	c.(946-948)tTg>tGg	p.L316W	RGS6_ENST00000407322.4_Missense_Mutation_p.L316W|RGS6_ENST00000553525.1_Missense_Mutation_p.L316W|RGS6_ENST00000434263.2_Missense_Mutation_p.L247W|RGS6_ENST00000355512.6_Missense_Mutation_p.L316W|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000404301.2_Missense_Mutation_p.L316W|RGS6_ENST00000402788.2_Missense_Mutation_p.L316W|RGS6_ENST00000406236.4_Missense_Mutation_p.L316W|RGS6_ENST00000556437.1_Missense_Mutation_p.L316W|RGS6_ENST00000555571.1_Missense_Mutation_p.L316W|RGS6_ENST00000554782.1_Missense_Mutation_p.L177W	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	316	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GACGTTGCTTTGTGGGACATA	0.403000													28	62					0	0	0.009535	0	0
MAPT	4137	broad.mit.edu	37	17	44060875	44060875	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:44060875C>G	ENST00000344290.5	+	6	1027	c.705C>G	c.(703-705)tcC>tcG	p.S235S	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000571987.1_Silent_p.S235S|MAPT_ENST00000415613.2_Silent_p.S235S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Silent_p.S235S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	235					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCCTCCCTCCAAGGCCTCCC	0.687000													19	15					0	0	0.001882	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51048240	51048240	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:51048240G>T	ENST00000008876.5	+	9	1517	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399908.2_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	0					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGGAGCTGGGCAAGGGGCT	0.637000													6	4					2.7689e-08	3.24635e-08	0.001984	1	0
SPOCK2	9806	broad.mit.edu	37	10	73826741	73826741	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:73826741G>A	ENST00000373109.2	-	8	1291	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	SPOCK2_ENST00000317376.4_Missense_Mutation_p.R283C|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Missense_Mutation_p.R283C	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	283					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGAAGGGACGGATGCAGACC	0.587000													28	44					0	0	0.005443	0	0
ITPR2	3709	broad.mit.edu	37	12	26810813	26810813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:26810813C>A	ENST00000381340.3	-	18	2435	c.2019G>T	c.(2017-2019)atG>atT	p.M673I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	673					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTCTGCTTGCATTGAGACCA	0.378000													11	33					0.000978159	0.00101913	0.000978	1	0
DSG4	147409	broad.mit.edu	37	18	28991084	28991084	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:28991084C>A	ENST00000359747.4	+	14	2114	c.2085C>A	c.(2083-2085)gcC>gcA	p.A695A	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	695					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			TTTTTAGCGCCTACGCCTTGC	0.522000													8	4					0.00307968	0.00317668	0.003080	1	0
PLSCR4	57088	broad.mit.edu	37	3	145924375	145924375	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:145924375T>A	ENST00000354952.2	-	4	532	c.292A>T	c.(292-294)Aca>Tca	p.T98S	PLSCR4_ENST00000446574.2_Missense_Mutation_p.T98S|PLSCR4_ENST00000433593.2_Missense_Mutation_p.T83S|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T98S|PLSCR4_ENST00000383083.2_Missense_Mutation_p.T98S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	98					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GGCATCCATGTTATTGGAACA	0.453000													29	67					0	0	0.002096	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920025	154920025	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:154920025C>A	ENST00000368463.3	-	9	810		c.e9-1		PBXIP1_ENST00000498553.1_Splice_Site|PBXIP1_ENST00000368460.3_Splice_Site|PBXIP1_ENST00000368465.1_Splice_Site|PBXIP1_ENST00000542459.1_Splice_Site|PBXIP1_ENST00000539880.1_Splice_Site	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1						cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTAGCCCATCCTGAGGGCAGA	0.602000													32	50					2.85442e-18	4.12421e-18	0.002096	1	0
ATP2B2	491	broad.mit.edu	37	3	10392241	10392241	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:10392241C>A	ENST00000397077.1	-	14	2597	c.2022G>T	c.(2020-2022)aaG>aaT	p.K674N	ATP2B2_ENST00000383800.4_Missense_Mutation_p.K674N|ATP2B2_ENST00000352432.4_Missense_Mutation_p.K719N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K719N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.K705N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	719					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						CCCGCTGGCACTTGCGGATGG	0.647000													57	8					2.67592e-24	4.26801e-24	0.003610	1	0
NRXN1	9378	broad.mit.edu	37	2	50850543	50850543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50850543G>C	ENST00000404971.1	-	7	2481	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.S348*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.S348*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	348	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			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)			AAAGGCCCCTGATCCCAAATT	0.463000													5	106					0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509245	110509245	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110509245T>G	ENST00000378402.5	+	64	10529	c.10425T>G	c.(10423-10425)ctT>ctG	p.L3475L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3475					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATGTTCTCTTATACAAGGAT	0.358000										HNSCC(38;0.096)			36	27					0	0	0.003755	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876984	39876984	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:39876984G>A	ENST00000530275.1	+	1	834	c.639G>A	c.(637-639)ctG>ctA	p.L213L	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	213										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACTTTTCTGATGGCAGATG	0.468000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	87					0	0	0.002299	0	0
IL36G	56300	broad.mit.edu	37	2	113742625	113742625	+	Nonstop_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:113742625G>T	ENST00000259205.4	+	5	578	c.509G>T	c.(508-510)tGa>tTa	p.*170L	IL36G_ENST00000376489.2_Nonstop_Mutation_p.*135L	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	0					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ATAAATGACTGAACTCAGCCT	0.428000													16	16					2.31682e-05	2.51801e-05	0.003163	1	0
PDZD2	23037	broad.mit.edu	37	5	31799605	31799605	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:31799605G>T	ENST00000438447.1	+	2	638	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G84C			O15018	PDZD2_HUMAN	PDZ domain containing 2	84					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAGACTGTGGGCCTGAGTTT	0.572000													130	132					1.83689e-69	3.49758e-69	0.003610	1	0
ZFR	51663	broad.mit.edu	37	5	32390460	32390460	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:32390460C>A	ENST00000265069.8	-	12	2165	c.2063G>T	c.(2062-2064)gGt>gTt	p.G688V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	688					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATGAGGATAACCTCCATCTGG	0.532000													39	85					2.05212e-20	3.08997e-20	0.005524	1	0
FAM135B	51059	broad.mit.edu	37	8	139165094	139165094	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:139165094C>A	ENST00000395297.1	-	13	1794	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	542								p.G542C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTCTGGACCTGGACTCCTT	0.502000										HNSCC(54;0.14)			30	33					3.1745e-13	4.1147e-13	0.008361	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774159	140774159	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140774159G>T	ENST00000398604.2	+	1	1779	c.1779G>T	c.(1777-1779)gcG>gcT	p.A593A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692000													39	73					1.57019e-19	2.32337e-19	0.007835	1	0
REG3A	5068	broad.mit.edu	37	2	79384806	79384806	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79384806C>T	ENST00000393878.1	-	4	606	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	REG3A_ENST00000409839.3_Missense_Mutation_p.E118K|REG3A_ENST00000305165.2_Missense_Mutation_p.E118K	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	118	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCCCAACCTTCTCCATTGGGC	0.552000													24	40					0	0	0.002780	0	0
ZBP1	81030	broad.mit.edu	37	20	56188232	56188232	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:56188232G>A	ENST00000340462.4	-	4	868	c.588C>T	c.(586-588)gtC>gtT	p.V196V	ZBP1_ENST00000541799.1_Silent_p.V219V|ZBP1_ENST00000395822.3_Silent_p.V144V|ZBP1_ENST00000343535.4_Silent_p.V219V|ZBP1_ENST00000371173.3_Silent_p.V219V			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	219						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCTCCCTGGAGACTGTCTGTC	0.572000													47	7					0	0	0.002852	0	0
WDR66	144406	broad.mit.edu	37	12	122413223	122413223	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:122413223G>A	ENST00000288912.4	+	18	3699	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	949							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGGTGGCCGGGAAGGAAAATT	0.463000													21	22					0	0	0.002299	0	0
IGSF3	3321	broad.mit.edu	37	1	117146412	117146412	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117146412C>G	ENST00000369486.3	-	6	2223	c.1458G>C	c.(1456-1458)atG>atC	p.M486I	IGSF3_ENST00000369483.1_Missense_Mutation_p.M506I|IGSF3_ENST00000318837.6_Missense_Mutation_p.M506I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	486	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCACCTGCTCCATCTGGACGC	0.617000													22	26					0	0	0.002299	0	0
PGBD1	84547	broad.mit.edu	37	6	28269009	28269009	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28269009G>T	ENST00000405948.2	+	7	1798	c.1378G>T	c.(1378-1380)Gtg>Ttg	p.V460L	PGBD1_ENST00000259883.3_Missense_Mutation_p.V460L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	460					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATGAGGTGTGTGTTTGGTGT	0.378000													27	102					1.26454e-06	1.41828e-06	0.005443	1	0
GH2	2689	broad.mit.edu	37	17	61957865	61957865	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:61957865C>A	ENST00000332800.7	-	4	856	c.723G>T	c.(721-723)tgG>tgT	p.W241C	GH2_ENST00000423893.2_Missense_Mutation_p.G157V|GH2_ENST00000449787.2_Missense_Mutation_p.G142V|GH2_ENST00000456543.2_Missense_Mutation_p.A156S	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CCGGGGGCTGCCATCTTCCAG	0.542000													69	11					9.68594e-22	1.49044e-21	0.003610	1	0
PTCH1	5727	broad.mit.edu	37	9	98220396	98220396	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:98220396C>A	ENST00000430669.2	-	18	3454	c.2869G>T	c.(2869-2871)Ggc>Tgc	p.G957C	PTCH1_ENST00000418258.1_Missense_Mutation_p.G872C|PTCH1_ENST00000429896.2_Missense_Mutation_p.G872C|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1022C|PTCH1_ENST00000437951.1_Missense_Mutation_p.G957C|PTCH1_ENST00000421141.1_Missense_Mutation_p.G872C|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1023C			Q13635	PTC1_HUMAN	patched 1	1023					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGCGGAGGCCGATGTACTGC	0.577000													46	12					5.48756e-27	9.01594e-27	0.002852	1	0
SH3BP2	6452	broad.mit.edu	37	4	2831327	2831327	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:2831327G>T	ENST00000356331.5	+	8	955	c.694G>T	c.(694-696)Ggt>Tgt	p.G232C	SH3BP2_ENST00000511747.1_Missense_Mutation_p.G232C|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G232C|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G260C|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G232C|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G289C	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	232					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CAAGGGCCCCGGTCCCCTACT	0.687000									Cherubism				13	55					5.50884e-06	6.05417e-06	0.001368	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38175482	38175482	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:38175482C>A	ENST00000316985.3	-	10	2447	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron	NM_017778.2	NP_060248.2	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	0					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)			TCTCAGTCCACAGTTTCCTCA	0.502000			T	NUP98	AML								18	54					1.33834e-09	1.61142e-09	0.007413	1	0
C6	729	broad.mit.edu	37	5	41160350	41160350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41160350G>T	ENST00000263413.3	-	11	1842	c.1578C>A	c.(1576-1578)tgC>tgA	p.C526*	C6_ENST00000337836.5_Nonsense_Mutation_p.C526*|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	526	EGF-like.				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)				CATTATTAGGGCATGGAGCAC	0.493000													78	184					7.62465e-47	1.40023e-46	0.003610	1	0
HSPA12A	259217	broad.mit.edu	37	10	118464761	118464761	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118464761T>G	ENST00000369209.3	-	3	259	c.155A>C	c.(154-156)cAg>cCg	p.Q52P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	52							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AAATGACTGCTGTTCTGAGAC	0.577000													35	69					0	0	0.004878	0	0
SFRP1	6422	broad.mit.edu	37	8	41166586	41166586	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:41166586G>A	ENST00000220772.3	-	1	430	c.93C>T	c.(91-93)gcC>gcT	p.A31A		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	31					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CGTACTCGCTGGCCGAGCCCA	0.731000													18	9					0	0	0.006122	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866561	106866561	+	RNA	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:106866561C>G	ENST00000390618.2	-	0	270																											GAGACCCACTCCAGCCCCTTC	0.552000													43	28					0	0	0.003214	0	0
PGAM2	5224	broad.mit.edu	37	7	44105093	44105093	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:44105093G>C	ENST00000297283.3	-	1	93	c.36C>G	c.(34-36)ggC>ggG	p.G12G	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	12					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ATGTGCTCTCGCCGTGCCGGA	0.622000													22	73					0	0	0.002780	0	0
NBAS	51594	broad.mit.edu	37	2	15493719	15493719	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:15493719G>T	ENST00000281513.5	-	34	4072	c.4047C>A	c.(4045-4047)agC>agA	p.S1349R	NBAS_ENST00000441750.1_Missense_Mutation_p.S1229R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1349										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						GAAGTTCAATGCTGCTAGGAG	0.473000													47	105					1.57945e-13	2.06358e-13	0.002852	1	0
UNC80	285175	broad.mit.edu	37	2	210640637	210640637	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:210640637A>G	ENST00000439458.1	+	3	246	c.166A>G	c.(166-168)Aac>Gac	p.N56D	UNC80_ENST00000272845.5_Missense_Mutation_p.N56D|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	56						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GTTGGTAGAAAACAAGCTGCA	0.438000													36	61					0	0	0.004289	0	0
KRT33A	3883	broad.mit.edu	37	17	39506848	39506848	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39506848C>G	ENST00000007735.3	-	1	216	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	58	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCATGGTCTCCTTCTCACTG	0.632000													110	24					0	0	0.003610	0	0
RFX7	64864	broad.mit.edu	37	15	56387748	56387748	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:56387748T>C	ENST00000423270.1	-	9	2177	c.2178A>G	c.(2176-2178)atA>atG	p.I726M	RFX7_ENST00000559447.2_Missense_Mutation_p.I629M|RFX7_ENST00000317318.6_Missense_Mutation_p.I726M|RFX7_ENST00000422057.1_Missense_Mutation_p.I629M	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	629					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATTTGCTCCTATGTGTGAAC	0.413000													19	11					0	0	0.007413	0	0
DOK1	1796	broad.mit.edu	37	2	74784174	74784174	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74784174G>T	ENST00000233668.5	+	5	2048	c.1379G>T	c.(1378-1380)aGc>aTc	p.S460I	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.S321I	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	460					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTCAGGGAGCTGGGACTGT	0.602000													23	31					4.4004e-07	4.97514e-07	0.003330	1	0
GAS2L2	246176	broad.mit.edu	37	17	34077228	34077228	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:34077228C>G	ENST00000254466.6	-	2	522	c.495G>C	c.(493-495)gcG>gcC	p.A165A	GAS2L2_ENST00000587565.1_Silent_p.A165A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	165					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGAGTGTGGGCGCCGCAACAC	0.706000													73	200					0	0	0.003610	0	0
ABCC5	10057	broad.mit.edu	37	3	183696421	183696421	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183696421C>A	ENST00000334444.6	-	9	1406	c.1166G>T	c.(1165-1167)cGt>cTt	p.R389L	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.R389L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	389	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAATATCCGACGCTCCTCCTC	0.473000													12	35					6.40141e-05	6.88493e-05	0.000978	1	0
THOC2	57187	broad.mit.edu	37	X	122802161	122802161	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:122802161A>C	ENST00000245838.8	-	10	897	c.866T>G	c.(865-867)cTt>cGt	p.L289R	THOC2_ENST00000355725.4_Missense_Mutation_p.L289R|THOC2_ENST00000491737.1_Missense_Mutation_p.L174R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	289					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCAGCCGGAAGAAGCTAAAA	0.303000													35	14					0	0	0.002836	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331837	100331837	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:100331837G>T	ENST00000341853.1	-	0	2354					NR_003260.1																						TGGAGAGCTGGGAGGCCACGG	0.602000													47	11					3.54909e-21	5.41037e-21	0.002852	1	0
G2E3	55632	broad.mit.edu	37	14	31066643	31066643	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31066643G>T	ENST00000206595.6	+	7	700	c.546G>T	c.(544-546)gcG>gcT	p.A182A	G2E3_ENST00000553504.1_Silent_p.A212A|G2E3_ENST00000438909.2_Silent_p.A136A|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.A182A(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAATAAATGCGGGAGTGTTTT	0.313000													51	123					2.01807e-28	3.37203e-28	0.003610	1	0
ZNF276	92822	broad.mit.edu	37	16	89789078	89789078	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:89789078G>T	ENST00000289816.5	+	2	432	c.120G>T	c.(118-120)cgG>cgT	p.R40R	ZNF276_ENST00000568064.1_Silent_p.R40R|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Silent_p.R115R	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCTCGTACGGGACTTCCAGC	0.647000													35	10					2.52637e-11	3.17209e-11	0.005524	1	0
OR6A2	8590	broad.mit.edu	37	11	6816919	6816919	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:6816919A>T	ENST00000332601.3	-	1	209	c.21T>A	c.(19-21)agT>agA	p.S7R		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACTCTCCCACTATGGTTCC	0.512000													19	42					0	0	0.008871	0	0
TBX15	6913	broad.mit.edu	37	1	119441667	119441667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:119441667G>T	ENST00000369429.3	-	7	1017	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	TBX15_ENST00000207157.3_Silent_p.T230T			Q96SF7	TBX15_HUMAN	T-box 15	336						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCTTCTGCATGGTGGTGAAGT	0.527000													18	33					2.5808e-16	3.58647e-16	0.006122	1	0
AHNAK	79026	broad.mit.edu	37	11	62284959	62284959	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:62284959C>A	ENST00000378024.4	-	5	17204	c.16930G>T	c.(16930-16932)Ggg>Tgg	p.G5644W	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5644	Gly-rich.				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)				CCTTGAGGCCCAGACACACTC	0.502000													52	105					1.35964e-18	1.97903e-18	0.003610	1	0
SFRP2	6423	broad.mit.edu	37	4	154709967	154709967	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:154709967C>G	ENST00000274063.4	-	1	305	c.21G>C	c.(19-21)tcG>tcC	p.S7S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	7					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCAGCAGCAGCGAGCCAGGGC	0.711000													11	4					0	0	0.008291	0	0
SMARCA2	6595	broad.mit.edu	37	9	2088558	2088558	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:2088558G>T	ENST00000382203.1	+	19	3037	c.2828G>T	c.(2827-2829)aGa>aTa	p.R943I	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R943I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R943I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R943I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	943					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)		AAGGTGTTAAGACCATTTTTA	0.348000													90	29					9.63447e-60	1.82211e-59	0.003610	1	0
SLC45A2	51151	broad.mit.edu	37	5	33963844	33963844	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33963844A>G	ENST00000382102.3	-	3	897	c.840T>C	c.(838-840)aaT>aaC	p.N280N	SLC45A2_ENST00000342059.3_Silent_p.N221N|SLC45A2_ENST00000296589.4_Silent_p.N280N|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	280					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAGCTCTGGATTTACGTAAC	0.408000													61	307					0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48443404	48443404	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:48443404G>C	ENST00000435803.1	+	39	12022	c.11998G>C	c.(11998-12000)Gat>Cat	p.D4000H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4000	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGGTTCTGGATGAGCCCAC	0.577000													21	15					0	0	0.001882	0	0
VPS13A	23230	broad.mit.edu	37	9	79955112	79955112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:79955112G>T	ENST00000360280.3	+	49	7053	c.6793G>T	c.(6793-6795)Gat>Tat	p.D2265Y	VPS13A_ENST00000357409.5_Missense_Mutation_p.D2265Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2265Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2226Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2265					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATGGTAACTGATAGTGAGTT	0.318000													40	4					1.62957e-23	2.57197e-23	0.008740	1	0
TRIM21	6737	broad.mit.edu	37	11	4411570	4411570	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4411570C>A	ENST00000254436.7	-	2	182	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	TRIM21_ENST00000543625.1_Missense_Mutation_p.V24L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	24					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)		ACAGGCTCCACGAAGGGGTCC	0.582000													74	15					5.44642e-36	9.57264e-36	0.003610	1	0
EPHA3	2042	broad.mit.edu	37	3	89390085	89390085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:89390085C>A	ENST00000336596.2	+	4	1059	c.834C>A	c.(832-834)taC>taA	p.Y278*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y278*|EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y278*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	278	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.Y278Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTTTCTACAAGGCATTGG	0.363000										TSP Lung(6;0.00050)			58	15					1.14385e-22	1.78104e-22	0.003610	1	0
BTBD9	114781	broad.mit.edu	37	6	38545399	38545399	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38545399T>A	ENST00000481247.1	-	6	1282	c.1131A>T	c.(1129-1131)ttA>ttT	p.L377F	BTBD9_ENST00000408958.1_Missense_Mutation_p.L309F|BTBD9_ENST00000403056.1_Missense_Mutation_p.L377F|BTBD9_ENST00000314100.6_Missense_Mutation_p.L309F|BTBD9_ENST00000419706.2_Missense_Mutation_p.L318F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	377					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTGGAAAATATAATTTCTGCC	0.363000													56	40					0	0	0.003610	0	0
CANX	821	broad.mit.edu	37	5	179146685	179146685	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:179146685G>C	ENST00000247461.4	+	9	1128	c.928G>C	c.(928-930)Gct>Cct	p.A310P	CANX_ENST00000504734.1_Missense_Mutation_p.A310P|CANX_ENST00000512607.2_Missense_Mutation_p.A202P|CANX_ENST00000415618.2_Missense_Mutation_p.A345P|CANX_ENST00000452673.2_Missense_Mutation_p.A310P	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	310	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGATGCCCCTGCTAAGATTCC	0.438000													12	5					0	0	0.000978	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030432	95030432	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95030432G>T	ENST00000557004.1	+	2	1034	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205F|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	205					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V205F(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)		CAAGAAGGACGTCTTGATGGT	0.458000													23	53					5.45024e-15	7.36063e-15	0.003330	1	0
ALDH1B1	219	broad.mit.edu	37	9	38396171	38396171	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:38396171C>T	ENST00000377698.3	+	2	579	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	142					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)	TGGATGAGGTCATCAAGGTGT	0.557000													48	105					0	0	0.003610	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866251	208866251	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208866251C>A	ENST00000457206.1	-	2	540	c.113G>T	c.(112-114)gGg>gTg	p.G38V	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.G38V|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.G38V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	38					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTGGATCCCATAAACCTC	0.483000													49	70					1.66251e-12	2.13239e-12	0.003610	1	0
FARSA	2193	broad.mit.edu	37	19	13039359	13039359	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13039359G>A	ENST00000588025.1	-	7	975	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	FARSA_ENST00000314606.4_Silent_p.L239L|FARSA_ENST00000423140.2_Silent_p.L208L			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	239					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCCATCTCCAGGAAGATCTGT	0.642000													14	5					0	0	0.002450	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551820	58551820	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:58551820C>A	ENST00000282326.1	+	4	620	c.373C>A	c.(373-375)Ctg>Atg	p.L125M		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	125					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCACAGTTCTGGTATCTCT	0.587000													50	121					2.47907e-22	3.85088e-22	0.003610	1	0
PCM1	5108	broad.mit.edu	37	8	17815210	17815210	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:17815210G>C	ENST00000325083.8	+	13	2405	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	PCM1_ENST00000524226.1_Missense_Mutation_p.E657Q|PCM1_ENST00000519253.1_Missense_Mutation_p.E656Q	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	656					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGCTGAATTTGAACAGAAGAT	0.423000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								10	1					0	0	0.006214	0	0
CFHR2	3080	broad.mit.edu	37	1	196928191	196928191	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:196928191C>A	ENST00000367415.4	+	5	908	c.794C>A	c.(793-795)cCc>cAc	p.P265H	CFHR2_ENST00000367421.3_Missense_Mutation_p.P265H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	265	Sushi 4.					extracellular region		p.P265H(1)		large_intestine(2)|ovary(1)|skin(3)	6						CTGGTATATCCCAGTTGTGAA	0.303000													7	31					0.00307968	0.00317668	0.003080	1	0
ACAT2	39	broad.mit.edu	37	6	160183048	160183048	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:160183048C>A	ENST00000367048.4	+	0	1689				SOD2_ENST00000535372.1_5'UTR|SOD2_ENST00000546087.1_5'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2							mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGCGGCAGGCCTGTGGGCTG	0.697000													11	1					9.70103e-10	1.17308e-09	0.008291	1	0
RASA2	5922	broad.mit.edu	37	3	141272715	141272715	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:141272715G>T	ENST00000286364.3	+	6	579	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	RASA2_ENST00000452898.1_Missense_Mutation_p.G182W			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	182	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GGCATGCCATGGGTTGCCTCT	0.323000													27	76					7.16026e-08	8.31555e-08	0.002445	1	0
EFCAB6	64800	broad.mit.edu	37	22	44131757	44131757	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:44131757T>A	ENST00000262726.7	-	7	877	c.624A>T	c.(622-624)ttA>ttT	p.L208F	EFCAB6_ENST00000356087.4_Missense_Mutation_p.L102F|EFCAB6_ENST00000396231.2_Missense_Mutation_p.L56F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.L102F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCGTCTCTTAACTTCATAC	0.428000													60	12					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33822819	33822819	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:33822819C>A	ENST00000389232.4	+	4	376	c.306C>A	c.(304-306)acC>acA	p.T102T	RYR3_ENST00000415757.3_Silent_p.T102T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	102	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)		GCCACAGGACCCTGTTATACG	0.512000													8	7					2.17888e-05	2.37202e-05	0.006214	1	0
GMPPA	29926	broad.mit.edu	37	2	220369964	220369964	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220369964G>A	ENST00000358215.3	+	8	1004	c.635G>A	c.(634-636)gGc>gAc	p.G212D	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.G212D|GMPPA_ENST00000373917.3_Missense_Mutation_p.G212D|GMPPA_ENST00000341142.3_Missense_Mutation_p.G212D|GMPPA_ENST00000313597.5_Missense_Mutation_p.G212D	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	212					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GACTCACCAGGCTTGTGGCCA	0.592000													15	32					0	0	0.004990	0	0
L2HGDH	79944	broad.mit.edu	37	14	50778849	50778849	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:50778849T>C	ENST00000267436.4	-	1	417	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	L2HGDH_ENST00000421284.3_Missense_Mutation_p.Y7C|L2HGDH_ENST00000555610.1_Missense_Mutation_p.Y7C|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.Y7C|L2HGDH_ENST00000261699.4_Missense_Mutation_p.Y7C			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	7					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ACCAACCAAATAACGCAGCGC	0.687000											OREG0022670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	6					0	0	0.000978	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													4	56					0	0	0.000602	0	0
COL5A1	1289	broad.mit.edu	37	9	137727020	137727020	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:137727020C>T	ENST00000371817.3	+	65	5754	c.5340C>T	c.(5338-5340)ccC>ccT	p.P1780P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1780	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACAACAACCCCTACATCCGCG	0.672000													19	7					0	0	0.007413	0	0
FAT4	79633	broad.mit.edu	37	4	126397370	126397370	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126397370A>T	ENST00000394329.3	+	12	12265	c.12252A>T	c.(12250-12252)ccA>ccT	p.P4084P	FAT4_ENST00000335110.5_Silent_p.P2347P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4084	Laminin G-like 1.				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						ACCAAGAGCCAGGATATTGTA	0.358000													45	53					0	0	0.003610	0	0
NRDE2	55051	broad.mit.edu	37	14	90755006	90755006	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:90755006T>A	ENST00000354366.3	-	11	2945	c.2713A>T	c.(2713-2715)Agc>Tgc	p.S905C	NRDE2_ENST00000357904.3_Missense_Mutation_p.S674C	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TTAGCCAGGCTAATTAGGCGG	0.483000													18	16					0	0	0.004990	0	0
NPAP1	23742	broad.mit.edu	37	15	24923596	24923596	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923596T>A	ENST00000329468.2	+	1	3056	c.2582T>A	c.(2581-2583)cTa>cAa	p.L861Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGGAACACACTACACAGTGAC	0.493000													47	59					0	0	0.002522	0	0
PAK2	5062	broad.mit.edu	37	3	196547287	196547287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:196547287G>C	ENST00000327134.3	+	13	1521	c.1199G>C	c.(1198-1200)cGc>cCc	p.R400P		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	400	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CAGAGCAAACGCAGTACCATG	0.483000													51	42					0	0	0.003610	0	0
GNB5	10681	broad.mit.edu	37	15	52420406	52420406	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:52420406G>A	ENST00000261837.7	-	10	964	c.899C>T	c.(898-900)tCa>tTa	p.S300L	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Missense_Mutation_p.S188L|GNB5_ENST00000358784.7_Missense_Mutation_p.S258L	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	300						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGCGTCATCTGACCCTGAAGC	0.423000													23	12					0	0	0.007291	0	0
GJA8	2703	broad.mit.edu	37	1	147381061	147381061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:147381061G>T	ENST00000240986.4	+	2	1032	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	GJA8_ENST00000369235.1_Missense_Mutation_p.G327W	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	327					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGCTCAGGTGGGGGCACAAGA	0.622000													8	13					0.00307968	0.00317668	0.003080	1	0
ALK	238	broad.mit.edu	37	2	29443605	29443605	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:29443605G>C	ENST00000389048.3	-	23	4518	c.3612C>G	c.(3610-3612)ctC>ctG	p.L1204L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1204	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAAGGACTTGAGGTCTCCCC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	17					0	0	0.001368	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926536	67926536	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926536G>A	ENST00000304363.4	-	11	1630	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAGCTTAGATGAGGTAGAGTT	0.368000													42	31					0	0	0.007835	0	0
PRPF31	26121	broad.mit.edu	37	19	54621832	54621832	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54621832G>C	ENST00000321030.4	+	2	523	c.174G>C	c.(172-174)aaG>aaC	p.K58N	PRPF31_ENST00000419967.1_Missense_Mutation_p.K58N|PRPF31_ENST00000391755.1_Missense_Mutation_p.K58N	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	58					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGATAGTAAGATGGTAAGAG	0.517000													59	114					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48389347	48389347	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48389347C>T	ENST00000224600.4	-	1	1644	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	511	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCGGCGATCATAGGTGGTG	0.657000													29	28					0	0	0.007291	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33630890	33630890	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33630890A>T	ENST00000504830.1	-	13	2352	c.2017T>A	c.(2017-2019)Tgt>Agt	p.C673S	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	673	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATACCTTACATATGCCATTA	0.383000										HNSCC(64;0.19)			31	112					0	0	0.007291	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625362	55625362	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55625362C>G	ENST00000247191.2	-	14	1967	c.1751G>C	c.(1750-1752)aGa>aCa	p.R584T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R584T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	584					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTCTCTCTCATTGCATT	0.393000													34	31					0	0	0.003755	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939616	43939616	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43939616C>A	ENST00000396879.1	-	4	307	c.195G>T	c.(193-195)gtG>gtT	p.V65V	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.V65V|CATSPER2_ENST00000354127.4_Silent_p.V65V|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000381761.1_Silent_p.V71V|CATSPER2_ENST00000321596.5_Silent_p.V65V			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	65					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGAGAAACGCACTAGCTGGT	0.438000													74	13					5.04879e-28	8.40751e-28	0.003610	1	0
TMEM120B	144404	broad.mit.edu	37	12	122188331	122188331	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:122188331C>T	ENST00000449592.2	+	4	452	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	117						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)		TGACCCTCCTCAGCAACCAGG	0.597000													45	6					0	0	0.002522	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139884	40139884	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:40139884G>C	ENST00000325157.6	-	7	1874	c.1624C>G	c.(1624-1626)Cct>Gct	p.P542A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	542										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTGCTTCAGGTTCCTGGGGG	0.438000													11	17					0	0	0.008291	0	0
OR13C9	286362	broad.mit.edu	37	9	107380040	107380040	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107380040C>A	ENST00000259362.1	-	1	445	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCCTGCAAACCAGGACCCAAC	0.443000													56	14					4.78724e-31	8.17994e-31	0.003610	1	0
ACRV1	56	broad.mit.edu	37	11	125547943	125547943	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:125547943G>T	ENST00000533904.1	-	2	644	c.302C>A	c.(301-303)aCt>aAt	p.T101N	ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000257382.2_Missense_Mutation_p.T46N|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000433875.1_Missense_Mutation_p.T101N|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.T46N			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	101	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCATGTTCAGTCGCAGCGGG	0.542000													38	120					9.8876e-21	1.49685e-20	0.004878	1	0
IDO1	3620	broad.mit.edu	37	8	39776358	39776358	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:39776358C>A	ENST00000518237.1	+	4	967	c.328C>A	c.(328-330)Cct>Act	p.P110T	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.P110T|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	110					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TATTGCTGTTCCTTACTGCCA	0.338000													25	62					6.36457e-07	7.17109e-07	0.003954	1	0
NLRP2	55655	broad.mit.edu	37	19	55493576	55493576	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55493576G>C	ENST00000543010.1	+	6	653	c.510G>C	c.(508-510)gaG>gaC	p.E170D	NLRP2_ENST00000263437.6_Missense_Mutation_p.E167D|NLRP2_ENST00000391721.4_Missense_Mutation_p.E146D|NLRP2_ENST00000427260.2_Missense_Mutation_p.E147D|NLRP2_ENST00000339757.7_Missense_Mutation_p.E148D|NLRP2_ENST00000537859.1_Missense_Mutation_p.E148D|NLRP2_ENST00000538819.1_Missense_Mutation_p.E146D|NLRP2_ENST00000448584.2_Missense_Mutation_p.E170D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	170					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGTTCCGGGAGATGTGGAAGA	0.502000													78	196					0	0	0.003610	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926066	67926066	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926066G>T	ENST00000304363.4	-	11	2100	c.1747C>A	c.(1747-1749)Cct>Act	p.P583T		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAGCACAGGAGCTGGCTGC	0.507000													89	53					7.68447e-34	1.33747e-33	0.003610	1	0
ZNF80	7634	broad.mit.edu	37	3	113955588	113955588	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113955588T>C	ENST00000482457.2	-	1	837	c.334A>G	c.(334-336)Aag>Gag	p.K112E		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	112						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTGAAGACCTTCCCGCACTCC	0.547000													16	29					0	0	0.007413	0	0
LPCAT1	79888	broad.mit.edu	37	5	1501688	1501688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1501688C>A	ENST00000283415.3	-	2	298	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	56					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGGAGCCGGACCGGGAAGAGC	0.662000													42	40					9.85913e-13	1.26954e-12	0.009718	1	0
CBLB	868	broad.mit.edu	37	3	105495359	105495359	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:105495359G>C	ENST00000264122.4	-	4	768	c.447C>G	c.(445-447)atC>atG	p.I149M	CBLB_ENST00000394027.3_Missense_Mutation_p.I171M|CBLB_ENST00000405772.1_Missense_Mutation_p.I149M|CBLB_ENST00000403724.1_Missense_Mutation_p.I149M|CBLB_ENST00000545639.1_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	149	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTGACTGAAGATAAGGGACA	0.373000			Mis S		AML								11	35					0	0	0.002450	0	0
COPB2	9276	broad.mit.edu	37	3	139087022	139087022	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:139087022C>T	ENST00000333188.5	-	13	1691	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R	COPB2_ENST00000507777.1_Missense_Mutation_p.G475R	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	504					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCAGTAACTCCCTCATGTGTT	0.383000													11	50					0	0	0.001855	0	0
PDE11A	50940	broad.mit.edu	37	2	178705003	178705003	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:178705003T>A	ENST00000286063.5	-	6	1792	c.1475A>T	c.(1474-1476)tAc>tTc	p.Y492F	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.Y134F|PDE11A_ENST00000449286.2_Missense_Mutation_p.Y134F|PDE11A_ENST00000389683.3_Missense_Mutation_p.Y48F|PDE11A_ENST00000358450.4_Missense_Mutation_p.Y242F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	492	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CGGATCCTGGTAGGCATCACT	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial				18	23					0	0	0.007413	0	0
NPHS1	4868	broad.mit.edu	37	19	36338987	36338987	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36338987A>G	ENST00000378910.5	-	11	1395	c.1396T>C	c.(1396-1398)Ttg>Ctg	p.L466L	NPHS1_ENST00000353632.6_Silent_p.L466L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	466	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGATAGCCAAACACACCAGC	0.652000													34	12					0	0	0.003755	0	0
KIF16B	55614	broad.mit.edu	37	20	16407825	16407825	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:16407825C>G	ENST00000354981.2	-	15	1693	c.1536G>C	c.(1534-1536)gtG>gtC	p.V512V	KIF16B_ENST00000355755.3_Silent_p.V512V|KIF16B_ENST00000408042.1_Silent_p.V512V|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	512	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTATCAGAGTCACTGTCCCCC	0.443000													70	27					0	0	0.003610	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189365	50189365	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50189365G>A	ENST00000335999.6	-	8	2479	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	756										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGGTCCACCCGGGCCCCCATG	0.667000													12	1					0	0	0.001368	0	0
ISLR2	57611	broad.mit.edu	37	15	74426880	74426880	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:74426880A>T	ENST00000361742.3	+	4	2554	c.1785A>T	c.(1783-1785)gcA>gcT	p.A595A	ISLR2_ENST00000453268.2_Silent_p.A595A|ISLR2_ENST00000435464.1_Silent_p.A595A|ISLR2_ENST00000419208.1_Silent_p.A595A|ISLR2_ENST00000445793.1_Silent_p.A595A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.A595A|ISLR2_ENST00000565159.1_Silent_p.A595A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	595					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCATAGTGGCAGTGAGCGTAT	0.632000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	8					0	0	0.004878	0	0
GLG1	2734	broad.mit.edu	37	16	74487121	74487121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:74487121C>A	ENST00000422840.2	-	26	3483	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	GLG1_ENST00000447066.2_Missense_Mutation_p.G1151C|GLG1_ENST00000205061.5_Missense_Mutation_p.G1162C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1162						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACATCAGGCCAATCAGGAAC	0.488000													35	24					1.30998e-17	1.86937e-17	0.005524	1	0
PCDH17	27253	broad.mit.edu	37	13	58208476	58208476	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:58208476G>C	ENST00000377918.3	+	1	1822	c.1796G>C	c.(1795-1797)cGc>cCc	p.R599P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647000													13	5					0	0	0.002450	0	0
DRAXIN	374946	broad.mit.edu	37	1	11769435	11769435	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:11769435G>A	ENST00000294485.5	+	3	690	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCAGCCTGGCGCCCACCATGT	0.632000													5	29					0	0	0.000602	0	0
RBFOX1	54715	broad.mit.edu	37	16	7382892	7382892	+	Translation_Start_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:7382892A>T	ENST00000340209.4	+	0	142				RBFOX1_ENST00000311745.5_De_novo_Start_InFrame|RBFOX1_ENST00000436368.2_De_novo_Start_InFrame|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000355637.4_De_novo_Start_InFrame|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000422070.4_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCTGACAGAAGGGATTTGGC	0.458000													11	11					0	0	0.008291	0	0
TBCK	93627	broad.mit.edu	37	4	107092362	107092362	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:107092362T>A	ENST00000273980.4	-	24	2572	c.2125A>T	c.(2125-2127)Act>Tct	p.T709S	TBCK_ENST00000394706.3_Missense_Mutation_p.T670S|TBCK_ENST00000432496.2_Missense_Mutation_p.T709S|TBCK_ENST00000394708.2_Missense_Mutation_p.T709S|TBCK_ENST00000361687.4_Missense_Mutation_p.T646S|TBCK_ENST00000514689.1_5'UTR			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	709						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TGTCTGTAAGTAGCACTTTTA	0.413000													18	46					0	0	0.010504	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335788	117335788	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117335788C>T	ENST00000321322.6	-	17	3316	c.3315G>A	c.(3313-3315)acG>acA	p.T1105T	DSCAML1_ENST00000527706.1_Silent_p.T835T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1045	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCTGTCCCCCGTGGCCTTCA	0.612000													87	63					0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79027442	79027442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:79027442G>T	ENST00000446378.2	+	2	2885	c.2854G>T	c.(2854-2856)Gtg>Ttg	p.V952L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	952						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTGCATTTGTGTCAGAATT	0.398000													40	11					3.76604e-16	5.20778e-16	0.002522	1	0
PRKAG3	53632	broad.mit.edu	37	2	219692580	219692580	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219692580G>T	ENST00000439262.2	-	7	816	c.721C>A	c.(721-723)Caa>Aaa	p.Q241K	PRKAG3_ENST00000529249.1_Missense_Mutation_p.Q266K|PRKAG3_ENST00000545803.1_Missense_Mutation_p.Q82K|PRKAG3_ENST00000392098.3_Intron	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	266	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTTATGTTGTTCAATCTCA	0.572000													14	34					3.27435e-08	3.823e-08	0.002450	1	0
P2RY8	286530	broad.mit.edu	37	X	1584744	1584744	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:1584744C>A	ENST00000381297.4	-	2	918	c.708G>T	c.(706-708)gtG>gtT	p.V236V		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	236						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CGGCCAGGCCCACCGCGCGCC	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""								13	7					2.27111e-07	2.60218e-07	0.001368	1	0
CD177	57126	broad.mit.edu	37	19	43866474	43866474	+	RNA	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:43866474T>A	ENST00000378009.4	+	0	1477				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCCTGCTAACTCTATTACCCC	0.597000													11	0					0	0	0.000978	0	0
OXGR1	27199	broad.mit.edu	37	13	97639385	97639385	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:97639385G>T	ENST00000298440.1	-	4	872	c.629C>A	c.(628-630)cCc>cAc	p.P210H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P210H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	210						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATCACCAAGGGGAGGCAGAA	0.473000													31	34					1.39806e-14	1.86376e-14	0.008361	1	0
VPS16	64601	broad.mit.edu	37	20	2841496	2841496	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2841496C>T	ENST00000380445.3	+	6	689	c.617C>T	c.(616-618)gCc>gTc	p.A206V	VPS16_ENST00000380469.3_Missense_Mutation_p.A206V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	206					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						GACCATGCAGCCTGCTCCGCA	0.577000													41	23					0	0	0.006230	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376069	135376069	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:135376069C>T	ENST00000354042.4	-	13	2012	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	441						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCTCCTGGTTCTCTCCTGGAT	0.512000													27	50					0	0	0.002096	0	0
GABRA4	2557	broad.mit.edu	37	4	46930439	46930439	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46930439C>A	ENST00000264318.3	-	9	2450	c.1468G>T	c.(1468-1470)Gtt>Ttt	p.V490F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	490					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGTATTAACTGTGGTCTTT	0.473000													30	70					7.01153e-11	8.70351e-11	0.007291	1	0
MCTP1	79772	broad.mit.edu	37	5	94208896	94208896	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:94208896T>A	ENST00000515393.1	-	13	1983	c.1984A>T	c.(1984-1986)Aca>Tca	p.T662S	MCTP1_ENST00000505208.1_Missense_Mutation_p.T441S|MCTP1_ENST00000429576.2_Missense_Mutation_p.T395S|MCTP1_ENST00000312216.8_Missense_Mutation_p.T441S|MCTP1_ENST00000505078.1_Missense_Mutation_p.T178S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	662	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACAGTATGTGTTAGCAGTCTA	0.353000													13	10					0	0	0.001855	0	0
KCNB1	3745	broad.mit.edu	37	20	47990813	47990813	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:47990813T>A	ENST00000371741.4	-	2	1450	c.1284A>T	c.(1282-1284)aaA>aaT	p.K428N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	428					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTGATTGCTTTCTCCTGTC	0.498000													118	19					0	0	0.003610	0	0
CEBPE	1053	broad.mit.edu	37	14	23588155	23588155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:23588155C>A	ENST00000206513.5	-	1	670	c.146G>T	c.(145-147)gGg>gTg	p.G49V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGCTCTTCCCCAGACTCGAT	0.647000													55	12					3.76997e-23	5.90748e-23	0.003610	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98411116	98411116	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98411116T>C	ENST00000339364.5	-	6	996	c.877A>G	c.(877-879)Aac>Gac	p.N293D	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.N115D|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	293	DBB.					cytoplasm|plasma membrane		p.N293Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCTCTGTGTTGTAGGGCACA	0.448000													15	22					0	0	0.003163	0	0
ABCC10	89845	broad.mit.edu	37	6	43400872	43400872	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:43400872G>T	ENST00000244533.3	+	1	1384	c.1025G>T	c.(1024-1026)gGc>gTc	p.G342V	ABCC10_ENST00000372530.4_Missense_Mutation_p.G385V|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	385	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AACCTACTAGGCACTGACTCT	0.607000													20	57					3.8784e-16	5.3594e-16	0.001882	1	0
TTC33	23548	broad.mit.edu	37	5	40728524	40728524	+	Missense_Mutation	SNP	C	C	A	rs139469375		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40728524C>A	ENST00000337702.4	-	4	510	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	120							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTGCTGGACGGCCATTTCT	0.403000													14	65					0.00185496	0.00192653	0.001855	1	0
DSG1	1828	broad.mit.edu	37	18	28916327	28916327	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:28916327A>G	ENST00000257192.4	+	9	1228	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	339	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCTTAGATTATGAAGCTATG	0.299000													11	4					0	0	0.001855	0	0
NRXN1	9378	broad.mit.edu	37	2	50170875	50170875	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50170875T>A	ENST00000404971.1	-	23	5642	c.4303A>T	c.(4303-4305)Att>Ttt	p.I1435F	NRXN1_ENST00000342183.5_Missense_Mutation_p.I330F|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1387F|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1395F|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1387F|NRXN1_ENST00000401710.1_Missense_Mutation_p.I383F|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1365F|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1365F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1365					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)			CAGGGGTCAATGTCCTCATCA	0.423000													8	7					0	0	0.008291	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901983	186901983	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186901983G>T	ENST00000367466.3	+	8	799	c.647G>T	c.(646-648)gGa>gTa	p.G216V	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.G156V|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	216	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TACGAATCAGGAATTCTGGAT	0.418000													32	119					3.90053e-15	5.28589e-15	0.002445	1	0
KLK10	5655	broad.mit.edu	37	19	51518109	51518109	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51518109T>A	ENST00000309958.3	-	6	996	c.778A>T	c.(778-780)Acc>Tcc	p.T260S	KLK10_ENST00000358789.3_Missense_Mutation_p.T260S|KLK10_ENST00000391805.1_Missense_Mutation_p.T260S	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	260	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGATCTGGGTGTAGACAGCT	0.542000													23	72					0	0	0.002780	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930456	148930456	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:148930456C>G	ENST00000261798.5	-	1	504	c.72G>C	c.(70-72)ggG>ggC	p.G24G	CSNK1A1_ENST00000515768.1_Silent_p.G24G|CSNK1A1_ENST00000515748.2_Silent_p.G24G|CSNK1A1_ENST00000377843.2_Silent_p.G24G	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	24	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AGGAGCCAGACCCGATCTTCC	0.537000													29	97					0	0	0.009535	0	0
DAPK1	1612	broad.mit.edu	37	9	90322028	90322028	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:90322028G>T	ENST00000469640.2	+	27	4492	c.4117G>T	c.(4117-4119)Ggg>Tgg	p.G1373W	DAPK1_ENST00000472284.1_Missense_Mutation_p.G1348W|DAPK1_ENST00000408954.3_Missense_Mutation_p.G1348W|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1348W|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1282W			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1348	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CACCAGTAACGGGGCTCCCAA	0.632000									Chronic Lymphocytic Leukemia, Familial Clustering of				56	18					9.04393e-38	1.60391e-37	0.003610	1	0
SYDE1	85360	broad.mit.edu	37	19	15220176	15220176	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15220176G>C	ENST00000342784.2	+	2	429	c.398G>C	c.(397-399)gGc>gCc	p.G133A	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Missense_Mutation_p.G66A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	133	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCACAGCCTGGCTCAGCTGAG	0.647000													12	16					0	0	0.002450	0	0
PTPRN	5798	broad.mit.edu	37	2	220164462	220164462	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220164462C>T	ENST00000295718.2	-	10	1723	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	PTPRN_ENST00000409251.3_Intron|PTPRN_ENST00000423636.2_Missense_Mutation_p.E405K|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	495					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCACATGCTCAGCCAGGATC	0.577000													6	68					0	0	0.001984	0	0
CLCA4	22802	broad.mit.edu	37	1	87012922	87012922	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:87012922T>C	ENST00000370563.3	+	1	162	c.120T>C	c.(118-120)ccT>ccC	p.P40P		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	40						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)		TTATAGATCCTAGTGTGCCAG	0.289000													23	28					0	0	0.002780	0	0
EPHA7	2045	broad.mit.edu	37	6	93956558	93956558	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:93956558A>G	ENST00000369303.4	-	15	2862	c.2678T>C	c.(2677-2679)aTg>aCg	p.M893T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	893	Protein kinase.					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)		GTTTCGAATCATTTTGTCTAG	0.418000													38	12					0	0	0.006999	0	0
CACNG6	59285	broad.mit.edu	37	19	54515347	54515347	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54515347G>T	ENST00000252729.2	+	4	1277	c.687G>T	c.(685-687)ctG>ctT	p.L229L	CACNG6_ENST00000352529.1_Silent_p.L158L|CACNG6_ENST00000346968.2_Silent_p.L183L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	229						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GGGCCGGCCTGATCCTGCTGT	0.716000													23	74					5.35356e-11	6.66228e-11	0.002780	1	0
PCDH15	65217	broad.mit.edu	37	10	55591103	55591103	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55591103T>A	ENST00000373965.2	-	31	4589	c.4195A>T	c.(4195-4197)Atc>Ttc	p.I1399F	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1392F|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1399F|PCDH15_ENST00000409834.1_Missense_Mutation_p.I1003F|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1392F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1355F|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1392F|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1321F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1397F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1392F|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1370F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1392					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)				ACCACCAAGATGGCAGGAATG	0.463000										HNSCC(58;0.16)			37	8					0	0	0.007835	0	0
CORIN	10699	broad.mit.edu	37	4	47765523	47765523	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47765523T>C	ENST00000273857.4	-	4	489	c.490A>G	c.(490-492)Aga>Gga	p.R164G	CORIN_ENST00000502252.1_Missense_Mutation_p.R97G|CORIN_ENST00000504584.1_Missense_Mutation_p.R164G|CORIN_ENST00000508498.1_Missense_Mutation_p.R25G|CORIN_ENST00000505909.1_Missense_Mutation_p.R164G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	164	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						TCCATGTTTCTGACAACTGAG	0.493000													26	82					0	0	0.006320	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833654	61833654	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61833654C>A	ENST00000370339.3	-	4	1979	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	YTHDF1_ENST00000370333.4_Missense_Mutation_p.E496D|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	546										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GCACCACCTCCTCCTCCTCCT	0.542000													62	98					2.32582e-20	3.49673e-20	0.003610	1	0
NTNG1	22854	broad.mit.edu	37	1	107691462	107691462	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:107691462G>C	ENST00000370067.1	+	2	873		c.e2+1		NTNG1_ENST00000370070.2_Splice_Site|NTNG1_ENST00000370074.4_Splice_Site|NTNG1_ENST00000370071.2_Splice_Site|NTNG1_ENST00000370066.1_Splice_Site|NTNG1_ENST00000370072.3_Splice_Site|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370065.1_Splice_Site|NTNG1_ENST00000370068.1_Splice_Site|NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000542803.1_Splice_Site			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGTGCAATGGTGAGGTAACC	0.423000													18	40					0	0	0.006122	0	0
HMCN1	83872	broad.mit.edu	37	1	186088942	186088942	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186088942C>G	ENST00000271588.4	+	79	12251	c.12022C>G	c.(12022-12024)Cca>Gca	p.P4008A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4008A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4008	Ig-like C2-type 39.				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						TATTTTATTACCATGTGAAGC	0.383000													15	44					0	0	0.002450	0	0
GSG2	83903	broad.mit.edu	37	17	3628116	3628116	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3628116G>T	ENST00000325418.4	+	1	906	c.887G>T	c.(886-888)gGc>gTc	p.G296V	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	296					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGGGCCACAGGCCAGGACTCT	0.567000													44	25					1.22674e-20	1.85427e-20	0.008740	1	0
SUV420H1	51111	broad.mit.edu	37	11	67925786	67925786	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925786G>A	ENST00000304363.4	-	11	2380	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGTCACAACTGAACAACCGAC	0.473000													36	26					0	0	0.003271	0	0
NDST4	64579	broad.mit.edu	37	4	115773944	115773944	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:115773944A>G	ENST00000264363.2	-	8	2431	c.1753T>C	c.(1753-1755)Tgg>Cgg	p.W585R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	585	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCTGGACCAGATGTCTTTG	0.358000													8	17					0	0	0.004482	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886059	88886059	+	Silent	SNP	G	G	T	rs142584363	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:88886059G>T	ENST00000319675.3	-	1	237	c.141C>A	c.(139-141)cgC>cgA	p.R47R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	47										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CACGCAGCTCGCGAGCTATAC	0.498000													11	37					6.40141e-05	6.88493e-05	0.000978	1	0
ABCC8	6833	broad.mit.edu	37	11	17485047	17485047	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:17485047C>A	ENST00000302539.4	-	4	642	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	ABCC8_ENST00000389817.3_Missense_Mutation_p.G173W	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	173					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)	ACCAGCAGCCCTGTGAGGCAG	0.582000													9	0					0.000274275	0.000289447	0.004482	1	0
TTC7B	145567	broad.mit.edu	37	14	91044511	91044511	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:91044511C>A	ENST00000357056.2	-	20	2421	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.R750L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	750							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATACCACCGCCGCGCCTCGTC	0.622000													13	21					9.31168e-06	1.01992e-05	0.001855	1	0
PIGS	94005	broad.mit.edu	37	17	26883203	26883203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:26883203C>A	ENST00000308360.7	-	10	1537	c.1162G>T	c.(1162-1164)Gtg>Ttg	p.V388L	PIGS_ENST00000543734.1_Missense_Mutation_p.V327L|PIGS_ENST00000395346.2_Missense_Mutation_p.V380L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	388					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCAGGAACACCTCCATCACT	0.502000													49	47					7.06795e-37	1.24785e-36	0.003610	1	0
RGPD3	653489	broad.mit.edu	37	2	107040512	107040512	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:107040512T>A	ENST00000409886.3	-	20	3998	c.3911A>T	c.(3910-3912)aAg>aTg	p.K1304M	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1304M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1304					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GGCAGGAGACTTAGATAGACT	0.403000													54	265					0	0	0.003610	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925554	67925554	+	Silent	SNP	G	G	A	rs146549090	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925554G>A	ENST00000304363.4	-	11	2612	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.N753N(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GATTGTTATCGTTGTCATGGT	0.363000													106	96					0	0	0.003610	0	0
MYOG	4656	broad.mit.edu	37	1	203055013	203055013	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203055013T>A	ENST00000241651.4	-	1	151	c.77A>T	c.(76-78)cAc>cTc	p.H26L		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	26					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GCCCTGGAGGTGGACAGGCAG	0.627000													26	48					0	0	0.004656	0	0
POLQ	10721	broad.mit.edu	37	3	121151258	121151258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121151258G>A	ENST00000264233.5	-	30	7794	c.7666C>T	c.(7666-7668)Cag>Tag	p.Q2556*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2556					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGACAATCTGAGCTACCTAA	0.398000								DNA polymerases (catalytic subunits)					24	17					0	0	0.002299	0	0
RBM34	23029	broad.mit.edu	37	1	235324532	235324532	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:235324532C>T	ENST00000408888.3	-	1	240	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RBM34_ENST00000366606.3_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	4						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTCATCCCTTCCAAGGCCATT	0.627000													90	16					0	0	0.003610	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925397	67925397	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925397G>C	ENST00000304363.4	-	11	2769	c.2416C>G	c.(2416-2418)Ctt>Gtt	p.L806V		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAGAGAAAGAGGATCACTG	0.438000													140	107					0	0	0.003610	0	0
PHF21A	51317	broad.mit.edu	37	11	45992717	45992717	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:45992717C>A	ENST00000257821.4	-	7	1185	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	PHF21A_ENST00000323180.6_Missense_Mutation_p.G188W|PHF21A_ENST00000418153.2_Missense_Mutation_p.G188W	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	188					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GCCCCAGGCCCAGTGACCTTA	0.512000													41	6					9.9191e-30	1.67881e-29	0.008740	1	0
ZNF532	55205	broad.mit.edu	37	18	56586262	56586262	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:56586262A>T	ENST00000336078.4	+	4	1519	c.743A>T	c.(742-744)aAg>aTg	p.K248M	ZNF532_ENST00000591230.1_Missense_Mutation_p.K248M|ZNF532_ENST00000591808.1_Missense_Mutation_p.K248M|ZNF532_ENST00000589288.1_Missense_Mutation_p.K248M|ZNF532_ENST00000591083.1_Missense_Mutation_p.K248M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGCTCCGAGAAGAATGACACC	0.502000													33	8					0	0	0.002836	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710509	40710509	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:40710509G>T	ENST00000253055.3	+	3	1269	c.981G>T	c.(979-981)acG>acT	p.T327T	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	327	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCCCTCCACGTGCCCCGAGC	0.672000													28	30					5.60225e-13	7.22812e-13	0.009535	1	0
MUC16	94025	broad.mit.edu	37	19	9060014	9060014	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9060014G>T	ENST00000397910.4	-	3	27635	c.27432C>A	c.(27430-27432)gcC>gcA	p.A9144A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9146	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						GTGAGAAAGAGGCAGAGCTGG	0.493000													19	7					5.3912e-06	5.92821e-06	0.006122	1	0
MED16	10025	broad.mit.edu	37	19	877041	877041	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:877041C>A	ENST00000312090.6	-	9	1643	c.1493G>T	c.(1492-1494)aGt>aTt	p.S498I	MED16_ENST00000269814.4_Missense_Mutation_p.S498I|MED16_ENST00000395808.3_Missense_Mutation_p.S498I|MED16_ENST00000325464.1_Missense_Mutation_p.S498I|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.S498I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	498					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)		CTGTACCATACTGGGCTGCAC	0.677000													43	9					4.01765e-15	5.44086e-15	0.009718	1	0
NLRC4	58484	broad.mit.edu	37	2	32474721	32474721	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:32474721G>T	ENST00000404025.2	-	5	2700	c.2212C>A	c.(2212-2214)Ctg>Atg	p.L738M	NLRC4_ENST00000402280.1_Missense_Mutation_p.L738M|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.L738M			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	738					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGGTTTTCAGGTTTGTTACA	0.413000													60	117					3.7469e-33	6.49837e-33	0.003610	1	0
COL19A1	1310	broad.mit.edu	37	6	70639585	70639585	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:70639585C>T	ENST00000322773.4	+	6	761	c.659C>T	c.(658-660)cCt>cTt	p.P220L		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	220	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GATGGCAAGCCTGTGGATGTA	0.348000													9	46					0	0	0.000978	0	0
LILRB2	10288	broad.mit.edu	37	19	54782228	54782228	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54782228G>A	ENST00000391748.1	-	7	1271	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	LILRB2_ENST00000434421.1_Missense_Mutation_p.P266S|LILRB2_ENST00000314446.5_Missense_Mutation_p.P382S|LILRB2_ENST00000391746.1_Missense_Mutation_p.P382S|LILRB2_ENST00000391749.4_Missense_Mutation_p.P382S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	382	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGACTCATGGGGAATTCAGCC	0.582000													109	76					0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	75078231	75078231	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:75078231C>A	ENST00000261978.4	-	1	803	c.417G>T	c.(415-417)gcG>gcT	p.A139A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.A139A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	139					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)		GGAGAGCCGGCGCGGCCCGGG	0.751000													35	39					6.53348e-20	9.74813e-20	0.003755	1	0
ATP11A	23250	broad.mit.edu	37	13	113536350	113536350	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:113536350C>G	ENST00000375630.2	+	29	3636	c.3548C>G	c.(3547-3549)cCt>cGt	p.P1183R	ATP11A_ENST00000375645.3_3'UTR|ATP11A_ENST00000487903.1_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CACAGCTGCCCTAGGTCCCGT	0.632000													46	103					0	0	0.003610	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215914	20215914	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20215914G>T	ENST00000331723.1	+	1	328	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	110					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)		CTTTCTAGGAGCCAGTGAGAT	0.488000													13	142					1.5842e-08	1.86964e-08	0.001855	1	0
TAP1	6890	broad.mit.edu	37	6	32820182	32820182	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32820182G>A	ENST00000354258.4	-	2	1037	c.876C>T	c.(874-876)tcC>tcT	p.S292S	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.S31S	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	292	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TGGTGAGAATGGACATGAGAG	0.522000													5	142					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55566820	55566820	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55566820C>G	ENST00000373965.2	-	36	4968	c.4574G>C	c.(4573-4575)aGt>aCt	p.S1525T	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1522T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	588					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)				TTCAGGAGCACTGTCTTCTCC	0.388000										HNSCC(58;0.16)			7	25					0	0	0.001984	0	0
ABCB11	8647	broad.mit.edu	37	2	169781190	169781190	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:169781190C>T	ENST00000263817.6	-	27	3866	c.3742G>A	c.(3742-3744)Gcc>Acc	p.A1248T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1248	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTGTCTAAGGCAGAAGTGGCT	0.393000													14	29					0	0	0.003163	0	0
ADAD2	161931	broad.mit.edu	37	16	84229633	84229633	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:84229633G>A	ENST00000268624.3	+	8	1604	c.1511G>A	c.(1510-1512)aGc>aAc	p.S504N	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.S422N|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	422	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						CCACTCTACAGCACCAGCCTC	0.677000													16	7					0	0	0.004007	0	0
GTF3C1	2975	broad.mit.edu	37	16	27497373	27497373	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27497373T>A	ENST00000356183.4	-	24	3818	c.3803A>T	c.(3802-3804)cAg>cTg	p.Q1268L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1268L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1268						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCATCCTCCTGCATAGACCA	0.602000													57	71					0	0	0.003610	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134082	91134082	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:91134082T>A	ENST00000373094.1	+	2	3688	c.2843T>A	c.(2842-2844)tTc>tAc	p.F948Y	PCDH11X_ENST00000395337.2_Missense_Mutation_p.F948Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F948Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F948Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F948Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	948					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						CAGCCTGCCTTCCAAATTCAG	0.488000													63	24					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458649	25458649	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25458649G>T	ENST00000424208.1	+	0	2606				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CAATGGCCCTGGGCCAGTGTC	0.577000													5	14					0.000602214	0.000631121	0.000602	1	0
SYNE2	23224	broad.mit.edu	37	14	64467393	64467393	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:64467393A>T	ENST00000358025.3	+	28	3824	c.3594A>T	c.(3592-3594)acA>acT	p.T1198T	SYNE2_ENST00000554584.1_Silent_p.T1198T|SYNE2_ENST00000344113.4_Silent_p.T1198T|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1198					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)		AAAGAGACACACTAAAGGAAA	0.308000													31	32					0	0	0.002096	0	0
LPHN2	23266	broad.mit.edu	37	1	82450266	82450266	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:82450266G>T	ENST00000370728.1	+	22	3915		c.e22-1		LPHN2_ENST00000335786.5_Splice_Site|LPHN2_ENST00000359929.3_Splice_Site|LPHN2_ENST00000370715.1_Splice_Site|LPHN2_ENST00000370721.1_Splice_Site|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000370717.2_Splice_Site|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000370727.1_Splice_Site|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Splice_Site|LPHN2_ENST00000271029.4_Splice_Site|LPHN2_ENST00000370730.1_Splice_Site|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000319517.6_Splice_Site			O95490	LPHN2_HUMAN	latrophilin 2						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTCAATGCAGGTACGAAAAG	0.418000													15	36					8.60227e-14	1.1269e-13	0.004007	1	0
GNG2	54331	broad.mit.edu	37	14	52417474	52417474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:52417474C>A	ENST00000335281.4	+	2	484	c.78C>A	c.(76-78)gaC>gaA	p.D26E	GNG2_ENST00000554736.1_Missense_Mutation_p.D26E|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556766.1_Missense_Mutation_p.D26E|GNG2_ENST00000555472.1_Missense_Mutation_p.D26E|GNG2_ENST00000556752.1_Missense_Mutation_p.D26E|GNG2_ENST00000557376.1_Missense_Mutation_p.D65E|GNG2_ENST00000554875.1_Missense_Mutation_p.D55E|GNG2_ENST00000553432.1_Missense_Mutation_p.D57E	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	26					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CCAATATCGACAGGATAAAGG	0.493000													13	32					2.27111e-07	2.60218e-07	0.001368	1	0
SLC15A1	6564	broad.mit.edu	37	13	99361875	99361875	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:99361875A>T	ENST00000376503.5	-	14	1073	c.1018T>A	c.(1018-1020)Ttc>Atc	p.F340I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	340					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACAGCATCGAAGATCGGGACC	0.517000													27	26					0	0	0.008361	0	0
CWC22	57703	broad.mit.edu	37	2	180810056	180810056	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:180810056T>A	ENST00000410053.3	-	20	2826	c.2527A>T	c.(2527-2529)Agt>Tgt	p.S843C	CWC22_ENST00000295749.6_Missense_Mutation_p.S843C	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	843						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AAATTTTCACTGTCTTTAATT	0.343000													29	51					0	0	0.006320	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372748	372748	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:372748G>T	ENST00000329962.6	+	3	342	c.342G>T	c.(340-342)cgG>cgT	p.R114R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	114						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCATGGCGGGAGGAGGTGA	0.692000													19	4					9.95505e-16	1.36604e-15	0.002299	1	0
ZNF548	147694	broad.mit.edu	37	19	57910682	57910682	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57910682G>T	ENST00000366197.5	+	3	1277	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	ZNF548_ENST00000336128.7_Missense_Mutation_p.G355W|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		CAATGATTGTGGGAAATTTTT	0.408000													17	44					3.45872e-05	3.74663e-05	0.004007	1	0
DLC1	10395	broad.mit.edu	37	8	13357256	13357256	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:13357256G>A	ENST00000276297.4	-	2	734	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	DLC1_ENST00000511869.1_Missense_Mutation_p.H109Y|DLC1_ENST00000316609.5_Missense_Mutation_p.H109Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	109					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCAGAAACATGCACTAGTGTT	0.418000													86	42					0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50779845	50779845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50779845C>A	ENST00000404971.1	-	10	3098	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y	NRXN1_ENST00000402717.3_Missense_Mutation_p.D539Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.D547Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.D539Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D547Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.D547Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	547	Laminin G-like 3.				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)			AGGTGGCCATCTAGCATCTCA	0.438000													63	41					1.53716e-24	2.4597e-24	0.003610	1	0
DUSP27	92235	broad.mit.edu	37	1	167095752	167095752	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167095752C>A	ENST00000361200.2	+	6	1550	c.1384C>A	c.(1384-1386)Cac>Aac	p.H462N	DUSP27_ENST00000271385.5_Missense_Mutation_p.H462N|DUSP27_ENST00000443333.1_Missense_Mutation_p.H462N|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	462					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						CCGCCCGGACCACGGCAGGAG	0.672000													6	6					8.12818e-05	8.68982e-05	0.001984	1	0
USH2A	7399	broad.mit.edu	37	1	216219883	216219883	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:216219883A>T	ENST00000366943.2	-	32	6601	c.6215T>A	c.(6214-6216)cTg>cAg	p.L2072Q	USH2A_ENST00000307340.3_Missense_Mutation_p.L2072Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2072	Fibronectin type-III 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)		CCAGGAGAGCAGCAAAGAACT	0.423000										HNSCC(13;0.011)			38	3					0	0	0.009718	0	0
TAOK1	57551	broad.mit.edu	37	17	27849415	27849415	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:27849415G>C	ENST00000261716.3	+	17	2545	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	676					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATGCGCTGTGAGTTGATCAG	0.453000													21	54					0	0	0.010504	0	0
PCDH18	54510	broad.mit.edu	37	4	138450988	138450988	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:138450988C>A	ENST00000344876.4	-	1	2641	c.2255G>T	c.(2254-2256)cGg>cTg	p.R752L	PCDH18_ENST00000412923.2_Missense_Mutation_p.R752L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R532L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	752					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)					GTGAATCTGCCGGGATGGCCT	0.483000													21	42					7.21436e-19	1.05556e-18	0.008871	1	0
CTNND2	1501	broad.mit.edu	37	5	11082867	11082867	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:11082867C>A	ENST00000304623.8	-	16	2918	c.2729G>T	c.(2728-2730)tGc>tTc	p.C910F	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.C573F|CTNND2_ENST00000511377.1_Missense_Mutation_p.C819F|CTNND2_ENST00000458100.2_Missense_Mutation_p.C477F|CTNND2_ENST00000359640.2_Missense_Mutation_p.C852F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					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						GGCCACCGCGCACACCACACG	0.527000													40	78					2.6416e-12	3.375e-12	0.006230	1	0
NLRC4	58484	broad.mit.edu	37	2	32474722	32474722	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:32474722G>T	ENST00000404025.2	-	5	2699	c.2211C>A	c.(2209-2211)aaC>aaA	p.N737K	NLRC4_ENST00000402280.1_Missense_Mutation_p.N737K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.N737K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	737					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGTTTTCAGGTTTGTTACAG	0.413000													57	117					1.13205e-32	1.95816e-32	0.003610	1	0
TENM4	26011	broad.mit.edu	37	11	78383237	78383237	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:78383237G>T	ENST00000278550.7	-	31	6096	c.5634C>A	c.(5632-5634)agC>agA	p.S1878R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CATTCAGCCTGCTGCTGGGTG	0.577000													14	38					6.31663e-08	7.34014e-08	0.003163	1	0
SGCA	6442	broad.mit.edu	37	17	48245326	48245326	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:48245326G>A	ENST00000262018.3	+	4	367	c.331G>A	c.(331-333)Gac>Aac	p.D111N	SGCA_ENST00000344627.6_Missense_Mutation_p.D111N|SGCA_ENST00000543315.1_Missense_Mutation_p.D111N|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Missense_Mutation_p.D9N	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	111					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTACAATCGGGACAGCTTTGA	0.587000													69	23					0	0	0.003610	0	0
CNTLN	54875	broad.mit.edu	37	9	17464561	17464561	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:17464561G>C	ENST00000380647.3	+	21	3555	c.3471G>C	c.(3469-3471)caG>caC	p.Q1157H	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q1157H|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q1157H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1157						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AATTTCGACAGAAAGTAAATT	0.289000													65	15					0	0	0.003610	0	0
CDKL2	8999	broad.mit.edu	37	4	76532444	76532444	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:76532444C>A	ENST00000429927.2	-	4	1168	c.465G>T	c.(463-465)ggG>ggT	p.G155G	CDKL2_ENST00000307465.4_Silent_p.G155G	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	155	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAACCTCCCCAGGAGCTG	0.453000													17	26					1.15088e-07	1.3256e-07	0.004007	1	0
FBXO39	162517	broad.mit.edu	37	17	6684114	6684114	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:6684114G>A	ENST00000321535.4	+	2	1057	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	309										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						TCCCGATCAGGAGCATCAGTC	0.527000													40	30					0	0	0.006230	0	0
COL5A2	1290	broad.mit.edu	37	2	189923591	189923591	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:189923591C>A	ENST00000374866.3	-	32	2388	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	705					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTAACGGGCCAACTGCTCC	0.358000													8	20					0.00621372	0.0063693	0.006214	1	0
PDILT	204474	broad.mit.edu	37	16	20376864	20376864	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20376864T>C	ENST00000302451.4	-	9	1365		c.e9-2			NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed						cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGATGTTTCTAGGAAGCACA	0.448000													36	53					0	0	0.008740	0	0
COL2A1	1280	broad.mit.edu	37	12	48386700	48386700	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:48386700C>A	ENST00000380518.3	-	16	1148	c.984G>T	c.(982-984)ctG>ctT	p.L328L	COL2A1_ENST00000337299.6_Silent_p.L259L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	328	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)	TTTCACCAGGCAGGCCACGAG	0.552000													8	18					1.06961e-07	1.23926e-07	0.003080	1	0
SPRR2F	6705	broad.mit.edu	37	1	153085207	153085207	+	Translation_Start_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153085207C>G	ENST00000468739.1	-	2	63	c.3G>C	c.(1-3)atG>atC	p.M1I	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	1					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGATAAGACATCCTGCTGG	0.542000													33	51					0	0	0.003271	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779009	156779009	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156779009C>A	ENST00000392306.2	-	7	1157	c.1018G>T	c.(1018-1020)Gtc>Ttc	p.V340F	SH2D2A_ENST00000368198.3_Missense_Mutation_p.V312F|SH2D2A_ENST00000368199.3_Missense_Mutation_p.V330F	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	330	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCCTGGGACAGGCCTGGAC	0.587000													60	115					2.17656e-39	3.90944e-39	0.003610	1	0
MED13	9969	broad.mit.edu	37	17	60107009	60107009	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:60107009C>A	ENST00000397786.2	-	8	1252	c.1176G>T	c.(1174-1176)agG>agT	p.R392S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	392				R -> K (in Ref. 1; AAD22032).	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGAATACTTCCTCCTAAGAT	0.333000													30	6					3.73148e-12	4.75509e-12	0.007291	1	0
BCL11B	64919	broad.mit.edu	37	14	99640777	99640777	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:99640777T>A	ENST00000345514.2	-	3	2449	c.2183A>T	c.(2182-2184)gAg>gTg	p.E728V	BCL11B_ENST00000443726.2_Missense_Mutation_p.E605V|BCL11B_ENST00000357195.3_Missense_Mutation_p.E799V	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	799						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGCAGTACTCGCACGTGTC	0.721000			T	TLX3	T-ALL								4	15					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21901563	21901563	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21901563C>G	ENST00000328843.6	+	70	11347	c.11316C>G	c.(11314-11316)acC>acG	p.T3772T	DNAH11_ENST00000409508.3_Silent_p.T3765T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3772					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						AGAGCATCACCCATGCTGTCT	0.517000									Kartagener syndrome				10	30					0	0	0.008291	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053474	110053474	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:110053474G>T	ENST00000309415.6	+	7	1700	c.1700G>T	c.(1699-1701)aGg>aTg	p.R567M		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	567							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACTGCCACCAGGCCCGCCCTG	0.667000													22	64					7.41877e-09	8.8092e-09	0.001882	1	0
APOB	338	broad.mit.edu	37	2	21228598	21228598	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:21228598G>T	ENST00000233242.1	-	26	11269	c.11142C>A	c.(11140-11142)ccC>ccA	p.P3714P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3714					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)	AATAGCCATTGGGGTTTTTGG	0.403000													50	28					3.86361e-14	5.09187e-14	0.003610	1	0
RTP2	344892	broad.mit.edu	37	3	187416361	187416361	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:187416361C>A	ENST00000358241.1	-	2	1031	c.603G>T	c.(601-603)tgG>tgT	p.W201C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	201					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGAAGAGGCACCAGCGAAGAG	0.587000													29	21					3.80469e-20	5.69834e-20	0.009535	1	0
OR4C15	81309	broad.mit.edu	37	11	55322199	55322199	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55322199C>G	ENST00000314644.2	+	1	417	c.417C>G	c.(415-417)ctC>ctG	p.L139L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TAGACTCCCTCTATGTGACAA	0.488000										HNSCC(20;0.049)			49	128					0	0	0.003610	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986393	89986393	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:89986393G>T	ENST00000491977.1	+	0	72																											TAATGCTCTGGATACCTGGTA	0.532000													27	42					1.75199e-13	2.2799e-13	0.007291	1	0
MYO16	23026	broad.mit.edu	37	13	109777616	109777616	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:109777616G>T	ENST00000356711.2	+	30	3752	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	MYO16_ENST00000357550.2_Missense_Mutation_p.R1209L|MYO16_ENST00000457511.2_Missense_Mutation_p.R721L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1209					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	p.R1209>?(1)		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)			GACATTGCCCGGGAAAATGAC	0.478000													16	23					3.35478e-16	4.65546e-16	0.003163	1	0
GRM7	2917	broad.mit.edu	37	3	7494358	7494358	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:7494358C>T	ENST00000486284.1	+	6	1513	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	GRM7_ENST00000403881.1_Silent_p.D413D|GRM7_ENST00000402647.2_Silent_p.D413D|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.D413D|GRM7_ENST00000357716.4_Silent_p.D413D	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	413					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCGTGATTGACGCAGTCTATG	0.493000													26	6					0	0	0.003954	0	0
MEOX2	4223	broad.mit.edu	37	7	15725606	15725606	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:15725606C>T	ENST00000262041.5	-	1	831	c.422G>A	c.(421-423)gGg>gAg	p.G141E		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	141					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)		GCACGCGGCCCCAGTCGGGGT	0.697000													75	34					0	0	0.003610	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553074	178553074	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:178553074C>A	ENST00000251582.7	-	18	2776	c.2675G>T	c.(2674-2676)cGt>cTt	p.R892L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	892	TSP type-1 2.				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)		ACAGAAGCCACGGTGTACCAT	0.657000													56	17					2.5401e-28	4.24069e-28	0.003610	1	0
ZNF800	168850	broad.mit.edu	37	7	127014753	127014753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:127014753C>A	ENST00000393313.1	-	5	1228	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E213*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E213*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GCCTGCGACTCCTGAGGTTGT	0.433000													54	56					1.46357e-32	2.52939e-32	0.003610	1	0
PDHA2	5161	broad.mit.edu	37	4	96762426	96762426	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:96762426T>G	ENST00000295266.4	+	1	1188	c.1125T>G	c.(1123-1125)gtT>gtG	p.V375V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	375					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTTTGAAGTTCGTGGTGCAA	0.413000													28	35					0	0	0.002445	0	0
GSTA1	2938	broad.mit.edu	37	6	52659012	52659012	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:52659012G>A	ENST00000334575.5	-	5	480	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	109	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.L109L(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CATACGGGCAGAAGGAGGATC	0.388000													50	132					0	0	0.003610	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122550	153122550	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153122550G>T	ENST00000368748.4	-	2	75	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGTGGCTGGCAGGGCTGC	0.562000													26	47					3.99451e-17	5.63071e-17	0.009535	1	0
OR10V1	390201	broad.mit.edu	37	11	59480963	59480963	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59480963A>C	ENST00000307552.2	-	1	374	c.356T>G	c.(355-357)aTg>aGg	p.M119R	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GTCATAAGCCATGACTACCAG	0.512000													30	21					0	0	0.002445	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406450	38406450	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:38406450G>T	ENST00000351773.3	+	8	1201	c.371G>T	c.(370-372)gGg>gTg	p.G124V	ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124V	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATAAAAATGGGAACAGCTTC	0.338000													72	41					1.43675e-24	2.30092e-24	0.003610	1	0
ZNF577	84765	broad.mit.edu	37	19	52376688	52376688	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:52376688G>T	ENST00000420592.1	-	6	1711	c.378C>A	c.(376-378)ccC>ccA	p.P126P	ZNF577_ENST00000301399.5_Silent_p.P185P|ZNF577_ENST00000451628.2_Silent_p.P126P|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATCCATGGGGTTTCTCTC	0.478000													60	46					1.19553e-41	2.16119e-41	0.003610	1	0
HERC2	8924	broad.mit.edu	37	15	28391471	28391471	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28391471T>A	ENST00000261609.7	-	71	11028	c.10920A>T	c.(10918-10920)gtA>gtT	p.V3640V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3640					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTCAAATTCTACCCTGAGTC	0.527000													51	80					0	0	0.003610	0	0
TG	7038	broad.mit.edu	37	8	134108570	134108570	+	Missense_Mutation	SNP	G	G	T	rs35664324		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:134108570G>T	ENST00000220616.4	+	43	7565	c.7525G>T	c.(7525-7527)Ggg>Tgg	p.G2509W	SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Missense_Mutation_p.G2452W|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.G879W|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Missense_Mutation_p.G642W|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2509					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCTCATTGGGAGTTCTCA	0.567000													65	87					2.34191e-24	3.7383e-24	0.003610	1	0
AGXT2	64902	broad.mit.edu	37	5	35014196	35014196	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35014196G>T	ENST00000231420.6	-	10	1192	c.992C>A	c.(991-993)tCt>tAt	p.S331Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	331					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAGAAGTGAGAGCCCAACCT	0.512000													40	123					7.04047e-22	1.08762e-21	0.005524	1	0
GLRA1	2741	broad.mit.edu	37	5	151266335	151266335	+	Missense_Mutation	SNP	C	C	T	rs142888296		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:151266335C>T	ENST00000274576.4	-	3	491	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	GLRA1_ENST00000545569.1_De_novo_Start_InFrame|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.V67M	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	67					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGCAGCTCACGTTCACTGGG	0.488000													57	12					0	0	0.003610	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027440	86027440	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:86027440T>C	ENST00000414626.2	+	4	1479	c.590T>C	c.(589-591)cTg>cCg	p.L197P	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L217P			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	217	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCATCACAGCTGCAGTGCCTA	0.338000													13	28					0	0	0.004990	0	0
MC5R	4161	broad.mit.edu	37	18	13826127	13826127	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:13826127G>T	ENST00000324750.3	+	1	585	c.363G>T	c.(361-363)atG>atT	p.M121I		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	121					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						TTGACTCCATGATCTGCATTT	0.517000													91	13					2.36867e-37	4.18941e-37	0.003610	1	0
BMP4	652	broad.mit.edu	37	14	54416818	54416818	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:54416818C>T	ENST00000245451.4	-	4	1552	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	BMP4_ENST00000558984.1_Missense_Mutation_p.D387N|BMP4_ENST00000417573.1_Missense_Mutation_p.D387N|BMP4_ENST00000559087.1_Missense_Mutation_p.D387N	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	387					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCATACTCATCCAGGTACAGC	0.483000													57	74					0	0	0.003610	0	0
ABI3	51225	broad.mit.edu	37	17	47297633	47297633	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:47297633C>A	ENST00000225941.1	+	6	1245	c.747C>A	c.(745-747)gcC>gcA	p.A249A	ABI3_ENST00000419580.2_Silent_p.A243A	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	249	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CACCAGCAGCCGTCGAGGTGT	0.692000										HNSCC(55;0.14)			17	3					9.16793e-09	1.0872e-08	0.004990	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70712480	70712480	+	RNA	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:70712480A>T	ENST00000530196.1	-	0	2038					NR_003951.1																						TCAGGAAGGCAGATGTGTGAC	0.507000													25	24					0	0	0.002780	0	0
DOPEY2	9980	broad.mit.edu	37	21	37642320	37642320	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:37642320C>G	ENST00000399151.3	+	27	5582	c.5497C>G	c.(5497-5499)Cag>Gag	p.Q1833E		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1833					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAAATCACTCAGAAAATCCT	0.458000													201	28					0	0	0.003610	0	0
FOXP2	93986	broad.mit.edu	37	7	114269983	114269983	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:114269983C>G	ENST00000393500.3	+	11	1115	c.295C>G	c.(295-297)Caa>Gaa	p.Q99E	FOXP2_ENST00000378237.3_Missense_Mutation_p.Q174E|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q198E|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q174E|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q82E|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q82E|FOXP2_ENST00000393494.2_Missense_Mutation_p.Q174E|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q154E|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q199E|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q191E|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q174E|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acaacaacaacaacagcagca	0.507000													18	5					0	0	0.004990	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453925	84453925	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:84453925G>T	ENST00000377084.2	-	1	2603	c.1718C>A	c.(1717-1719)tCc>tAc	p.S573Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	573	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTCGTCATTGGAGAGGAGCAT	0.542000													18	8					5.03518e-11	6.278e-11	0.007413	1	0
CHD5	26038	broad.mit.edu	37	1	6206398	6206398	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:6206398C>T	ENST00000262450.3	-	11	1775	c.1676G>A	c.(1675-1677)gGg>gAg	p.G559E	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	559					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)		GTCTTCATCCCCAGAGCCGTA	0.557000													116	35					0	0	0.003610	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879219	209879219	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:209879219C>G	ENST00000367028.2	+	3	321	c.152C>G	c.(151-153)gCt>gGt	p.A51G	HSD11B1_ENST00000367027.3_Missense_Mutation_p.A51G|HSD11B1_ENST00000261465.1_Missense_Mutation_p.A51G|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	51					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AGAGAGATGGCTTATCATCTG	0.512000													55	40					0	0	0.003610	0	0
RRP1	8568	broad.mit.edu	37	21	45213224	45213224	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:45213224G>T	ENST00000497547.1	+	4	416	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	100					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)		CAGGCCTTCTGGCAGACCATG	0.602000													154	31					1.03023e-69	1.96353e-69	0.003610	1	0
OR4A5	81318	broad.mit.edu	37	11	51411670	51411670	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:51411670G>C	ENST00000319760.6	-	1	778	c.726C>G	c.(724-726)acC>acG	p.T242T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242T(2)		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)				GGACAACAACGGTACTGCCGG	0.398000													32	13					0	0	0.002445	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99443583	99443583	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:99443583C>T	ENST00000397899.2	-	6	921	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		GTCTGAGATCCGGGCAGAGAC	0.557000													19	48					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179634420	179634420	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179634420G>C	ENST00000589042.1	-	37	9112	c.8888C>G	c.(8887-8889)aCc>aGc	p.T2963S	TTN_ENST00000460472.2_Missense_Mutation_p.T2917S|TTN_ENST00000360870.5_Missense_Mutation_p.T2963S|TTN_ENST00000342175.6_Missense_Mutation_p.T2917S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T2917S|TTN_ENST00000342992.6_Missense_Mutation_p.T2963S|TTN_ENST00000591111.1_Missense_Mutation_p.T2963S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2701	Ig-like 16.						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)			GACTGTCAGGGTGGCACTGAC	0.363000													35	33					0	0	0.003755	0	0
LOC440040	440040	broad.mit.edu	37	11	49598375	49598375	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49598375C>A	ENST00000527477.1	+	0	979																											AGGGTTGTGCCTTCAGATGCT	0.453000													29	32					1.39806e-14	1.86376e-14	0.008361	1	0
SYT11	23208	broad.mit.edu	37	1	155838079	155838079	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:155838079G>T	ENST00000368324.4	+	2	611	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	120						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCTTGTATAGACCAATTACC	0.537000													44	66					5.20837e-25	8.38202e-25	0.008740	1	0
HERC2	8924	broad.mit.edu	37	15	28465739	28465739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28465739C>A	ENST00000261609.7	-	37	5812	c.5704G>T	c.(5704-5706)Gga>Tga	p.G1902*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1902	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTATCCATCCGTCCTCTCCC	0.577000													74	144					3.00167e-28	5.00703e-28	0.003610	1	0
TRPC7	57113	broad.mit.edu	37	5	135651405	135651405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135651405G>T	ENST00000513104.1	-	3	1125	c.843C>A	c.(841-843)tgC>tgA	p.C281*	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	281					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTGTCTCGGCACAGGTCCA	0.483000													22	4					2.41591e-17	3.42763e-17	0.004656	1	0
DICER1	23405	broad.mit.edu	37	14	95584026	95584026	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95584026C>A	ENST00000526495.1	-	11	1733	c.1442G>T	c.(1441-1443)gGa>gTa	p.G481V	DICER1_ENST00000527414.1_Missense_Mutation_p.G481V|DICER1_ENST00000541352.1_Missense_Mutation_p.G481V|DICER1_ENST00000393063.1_Missense_Mutation_p.G481V|DICER1_ENST00000343455.3_Missense_Mutation_p.G481V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	481	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATGCCATGTCCAGTTATGAA	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				19	27					9.95505e-16	1.36604e-15	0.002299	1	0
XIST	7503	broad.mit.edu	37	X	73071845	73071845	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:73071845G>A	ENST00000429829.1	-	0	743					NR_001564.2																						GATGGGCGATGAAAAAAAAAA	0.413000													16	0					0	0	0.003163	0	0
HK3	3101	broad.mit.edu	37	5	176308945	176308945	+	Splice_Site	SNP	C	C	A	rs141851478	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176308945C>A	ENST00000292432.5	-	16	2328	c.2237_splice	c.e16+1	p.R746_splice		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	746	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)			CAGCCCACACCTCTGCTTGCC	0.637000													49	10					8.04919e-23	1.25529e-22	0.003610	1	0
SLC35G5	83650	broad.mit.edu	37	8	11189033	11189033	+	Missense_Mutation	SNP	G	G	T	rs145196437	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:11189033G>T	ENST00000382435.4	+	1	637	c.418G>T	c.(418-420)Gta>Tta	p.V140L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	140	DUF6 1.					integral to membrane											TTCTTCCACCGTATGCTCCGC	0.577000													57	30					1.67886e-27	2.7769e-27	0.003610	1	0
DST	667	broad.mit.edu	37	6	56472094	56472094	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:56472094C>A	ENST00000370754.5	-	39	7232	c.7233G>T	c.(7231-7233)ttG>ttT	p.L2411F	DST_ENST00000361203.3_Missense_Mutation_p.L2233F|DST_ENST00000446842.2_Missense_Mutation_p.L1907F|DST_ENST00000370769.4_Missense_Mutation_p.L2233F|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2233F|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2233	Asp-rich.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACTGTGCATCAATTTATCAT	0.408000													56	84					2.91325e-39	5.21836e-39	0.003610	1	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													18	199					0	0	0.004990	0	0
TPTE2	93492	broad.mit.edu	37	13	20038657	20038657	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:20038657C>A	ENST00000400230.2	-	10	724	c.680G>T	c.(679-681)cGt>cTt	p.R227L	TPTE2_ENST00000255310.6_Missense_Mutation_p.R150L|TPTE2_ENST00000382977.4_Missense_Mutation_p.R227L|TPTE2_ENST00000457266.2_Missense_Mutation_p.R116L|TPTE2_ENST00000390680.2_Missense_Mutation_p.R150L|TPTE2_ENST00000382975.4_Missense_Mutation_p.R187L|TPTE2_ENST00000382978.1_Missense_Mutation_p.R187L|TPTE2_ENST00000400103.2_Missense_Mutation_p.R116L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	227	Phosphatase 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)		AGCAATAATACGTTCTGAAAG	0.299000													18	9					8.00594e-06	8.78374e-06	0.007413	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627789	43627789	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43627789C>T	ENST00000332857.6	-	4	926	c.898G>A	c.(898-900)Gat>Aat	p.D300N	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAAAGAGGATCTTGCTGGACT	0.552000													154	647					0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188025	32188025	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32188025T>A	ENST00000375023.3	-	7	1334	c.1196A>T	c.(1195-1197)cAg>cTg	p.Q399L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	399	EGF-like 10.				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						ATGGCACGGCTGGCTCAGACA	0.617000													22	74					0	0	0.001882	0	0
CPS1	1373	broad.mit.edu	37	2	211465408	211465408	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:211465408A>C	ENST00000233072.5	+	15	1875	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	CPS1_ENST00000451903.2_Missense_Mutation_p.K109T|CPS1_ENST00000430249.2_Missense_Mutation_p.K566T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	560	ATP-grasp 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)		ATCAATGAAAAGATTGCTCCA	0.393000													36	37					0	0	0.004289	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963308	88963308	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:88963308C>A	ENST00000333190.4	+	4	1621	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	338						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGATTTTACTCCTACCAGCAG	0.358000										HNSCC(36;0.09)			29	7					3.65163e-15	4.952e-15	0.006320	1	0
MAML3	55534	broad.mit.edu	37	4	141074181	141074181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:141074181C>A	ENST00000509479.2	-	1	1157	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	101					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGCTGCTCCACCTGAGCC	0.677000													6	1					0.00198382	0.00205493	0.001984	1	0
USH2A	7399	broad.mit.edu	37	1	216405386	216405386	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:216405386C>A	ENST00000366943.2	-	14	3288	c.2902G>T	c.(2902-2904)Ggt>Tgt	p.G968C	USH2A_ENST00000366942.3_Missense_Mutation_p.G968C|USH2A_ENST00000307340.3_Missense_Mutation_p.G968C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	968	Laminin EGF-like 9.				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)		ACACACTGACCAGTCAGGCTA	0.448000										HNSCC(13;0.011)			61	11					3.89483e-19	5.73713e-19	0.003610	1	0
TRAF5	7188	broad.mit.edu	37	1	211526639	211526639	+	Missense_Mutation	SNP	G	G	T	rs148579195	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:211526639G>T	ENST00000261464.5	+	2	112	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C	TRAF5_ENST00000367004.3_Missense_Mutation_p.G20C|TRAF5_ENST00000427925.2_Missense_Mutation_p.G20C|TRAF5_ENST00000336184.2_Missense_Mutation_p.G20C|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	20					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CCAGAATTCCGGCAACTCCAT	0.493000											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	87					6.8793e-45	1.25747e-44	0.003610	1	0
C10orf128	170371	broad.mit.edu	37	10	50374978	50374978	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50374978C>G	ENST00000374148.1	-	3	228	c.174G>C	c.(172-174)atG>atC	p.M58I	C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374153.2_Missense_Mutation_p.M58I|C10orf128_ENST00000474718.1_Missense_Mutation_p.M58I|C10orf128_ENST00000374151.3_Missense_Mutation_p.M58I			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	58						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						GCCTCCTGATCATGCAGATCT	0.577000													16	43					0	0	0.004007	0	0
TGM6	343641	broad.mit.edu	37	20	2411243	2411243	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2411243C>A	ENST00000202625.2	+	11	1891	c.1830C>A	c.(1828-1830)atC>atA	p.I610I	TGM6_ENST00000381423.1_Silent_p.I610I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	610					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCATCACCATCAAGGTGACCT	0.547000													4	47					0.00024832	0.000262197	0.009096	1	0
HFM1	164045	broad.mit.edu	37	1	91866637	91866637	+	Translation_Start_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:91866637C>G	ENST00000370425.3	-	2	101	c.3G>C	c.(1-3)atG>atC	p.M1I	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTGATTTCAGCATTGTTGAAA	0.254000													6	15					0	0	0.001168	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025948	129025948	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:129025948C>A	ENST00000259241.6	-	2	1037	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	342					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ATGTCCAGGTCGTTGAGCTCC	0.627000													20	55					1.56452e-12	2.00803e-12	0.007413	1	0
POTEH	23784	broad.mit.edu	37	22	16287400	16287400	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:16287400G>T	ENST00000343518.6	-	1	537	c.486C>A	c.(484-486)gaC>gaA	p.D162E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAAAGCGCTGTCGTCGTAGT	0.592000													87	147					1.96202e-32	3.37598e-32	0.003610	1	0
CEP170	9859	broad.mit.edu	37	1	243349110	243349110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:243349110C>A	ENST00000366542.1	-	10	1588	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	513						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCTTCCACTTCCTCACTGTTG	0.353000													72	22					1.17611e-34	2.05977e-34	0.003610	1	0
COL14A1	7373	broad.mit.edu	37	8	121267580	121267580	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:121267580A>G	ENST00000297848.3	+	23	3124	c.2854A>G	c.(2854-2856)Ata>Gta	p.I952V	COL14A1_ENST00000247781.3_Missense_Mutation_p.I857V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.I952V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	952	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGGGTTGTTATAGAATCCCT	0.453000													33	53					0	0	0.009535	0	0
A4GNT	51146	broad.mit.edu	37	3	137843458	137843458	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:137843458C>A	ENST00000236709.3	-	3	872	c.671G>T	c.(670-672)gGc>gTc	p.G224V		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	224					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CAACTCAGGGCCTTGGTTGCC	0.468000													21	83					8.34094e-07	9.36033e-07	0.008871	1	0
RBFOX1	54715	broad.mit.edu	37	16	7703943	7703943	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:7703943A>G	ENST00000340209.4	+	9	1196	c.899A>G	c.(898-900)tAc>tGc	p.Y300C	RBFOX1_ENST00000311745.5_Missense_Mutation_p.Y315C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Y315C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.Y295C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Y295C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Y252C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Y268C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Y338C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Y315C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Y312C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Y338C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	295					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCCCGGCCTACGGCGGGTAA	0.731000													5	8					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696314	48696314	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:48696314T>C	ENST00000352832.5	+	31	5996	c.5624T>C	c.(5623-5625)cTg>cCg	p.L1875P	CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1864P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1864P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1852P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1909P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1875P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1884P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1902P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1891P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1909P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1868P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1916P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1891P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1875P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1886P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1909P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1875P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1909P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1875P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1857P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1886P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1909					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGGGCTCTGCACCCAGCG	0.711000													26	7					0	0	0.007291	0	0
PTPN22	26191	broad.mit.edu	37	1	114377049	114377049	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114377049G>A	ENST00000359785.5	-	15	2042	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	PTPN22_ENST00000538253.1_Missense_Mutation_p.P392L|PTPN22_ENST00000528414.1_Missense_Mutation_p.P581L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P509L|PTPN22_ENST00000420377.2_Missense_Mutation_p.P636L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	636					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAACATTTGGTGAGAATTC	0.358000													30	48					0	0	0.002836	0	0
IL21R	50615	broad.mit.edu	37	16	27456035	27456035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27456035C>A	ENST00000337929.3	+	6	1153	c.680C>A	c.(679-681)tCa>tAa	p.S227*	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Nonsense_Mutation_p.S227*|IL21R_ENST00000395754.4_Nonsense_Mutation_p.S227*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.S227*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	227					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGACCCAGTCAGAGGGTAGG	0.582000			T	BCL6	NHL								17	40					3.32936e-07	3.78818e-07	0.006122	1	0
MNDA	4332	broad.mit.edu	37	1	158815556	158815556	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158815556A>T	ENST00000368141.4	+	5	1011	c.750A>T	c.(748-750)aaA>aaT	p.K250N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	250	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCATGTGAAAGTCTTCGACA	0.373000													7	17					0	0	0.003080	0	0
CREBBP	1387	broad.mit.edu	37	16	3900688	3900688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3900688C>A	ENST00000262367.5	-	2	1217	c.408G>T	c.(406-408)caG>caT	p.Q136H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q136H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	136					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTGGCTGCCTGTTTAGGCA	0.632000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						36	43					1.57351e-24	2.51583e-24	0.003755	1	0
STC2	8614	broad.mit.edu	37	5	172755091	172755091	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:172755091C>A	ENST00000265087.4	-	1	1415	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	36					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCTCCTGTCTTGGGGACCC	0.667000													72	20					2.32478e-39	4.16806e-39	0.003610	1	0
CCSER1	401145	broad.mit.edu	37	4	91645125	91645125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:91645125G>T	ENST00000509176.1	+	7	2281	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	CCSER1_ENST00000333691.8_Nonsense_Mutation_p.E665*|CCSER1_ENST00000432775.2_Nonsense_Mutation_p.E665*|CCSER1_ENST00000504150.1_3'UTR	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TCTTACTGAAGAGCCAGTGCC	0.333000													3	0					0.004672	0.004799	0.004672	1	0
SETBP1	26040	broad.mit.edu	37	18	42530404	42530404	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:42530404G>T	ENST00000282030.5	+	4	1395	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATACAGAAGGGAAAAGGGA	0.448000									Schinzel-Giedion syndrome				32	11					2.2171e-23	3.48528e-23	0.009535	1	0
FCRL1	115350	broad.mit.edu	37	1	157772359	157772359	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:157772359C>A	ENST00000358292.3	-	4	466	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	FCRL1_ENST00000491942.1_Missense_Mutation_p.G139C|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.G139C	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	139	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTCCTGTGCCCATAGCAACT	0.542000													18	26					2.48551e-13	3.22804e-13	0.004990	1	0
MCM4	4173	broad.mit.edu	37	8	48889288	48889288	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:48889288G>T	ENST00000262105.2	+	16	2751	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	MCM4_ENST00000523944.1_Missense_Mutation_p.A848S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	848					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCGTGCCCTGGCAGATGATGA	0.488000													19	115					1.9806e-07	2.27595e-07	0.002299	1	0
GRIA4	2893	broad.mit.edu	37	11	105804547	105804547	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:105804547C>G	ENST00000393127.2	+	14	2592	c.2146C>G	c.(2146-2148)Cgc>Ggc	p.R716G	GRIA4_ENST00000525187.1_Missense_Mutation_p.R716G|GRIA4_ENST00000282499.5_Missense_Mutation_p.R716G|GRIA4_ENST00000530497.1_Missense_Mutation_p.R716G	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	716					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)	AGCTCGTGTCCGCAAATCCAA	0.458000													7	31					0	0	0.001984	0	0
SOX3	6658	broad.mit.edu	37	X	139586651	139586651	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:139586651G>T	ENST00000370536.2	-	1	574	c.575C>A	c.(574-576)gCc>gAc	p.A192D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	192					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)					AAGTCGCTTGGCCTCGTCGAT	0.572000													24	5					2.39556e-15	3.25989e-15	0.002780	1	0
PTPRM	5797	broad.mit.edu	37	18	8370953	8370953	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:8370953A>G	ENST00000332175.8	+	22	4118	c.3081A>G	c.(3079-3081)atA>atG	p.I1027M	PTPRM_ENST00000580170.1_Missense_Mutation_p.I1040M|PTPRM_ENST00000444013.1_Missense_Mutation_p.I814M|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1041M|PTPRM_ENST00000400053.4_Missense_Mutation_p.I965M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1027	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTACCCTAATAGAAACAGAAC	0.338000													23	41					0	0	0.002299	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589728	47589728	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:47589728C>T	ENST00000253048.5	-	6	820	c.783G>A	c.(781-783)atG>atA	p.M261I	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	261	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCCCCTGCCCATGCCGCGGC	0.647000													35	6					0	0	0.004289	0	0
INSR	3643	broad.mit.edu	37	19	7166355	7166355	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:7166355C>A	ENST00000341500.5	-	8	1710	c.1671G>T	c.(1669-1671)acG>acT	p.T557T	INSR_ENST00000302850.5_Silent_p.T557T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	557					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCTACCACCGTCCAACTGT	0.552000													35	3					1.21669e-08	1.44111e-08	0.003271	1	0
FAM69B	138311	broad.mit.edu	37	9	139617948	139617948	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139617948T>A	ENST00000371691.1	+	3	1856	c.757T>A	c.(757-759)Tgc>Agc	p.C253S	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.C340S			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	340						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CAGCACCGACTGCACCTACGG	0.682000													13	0					0	0	0.001368	0	0
KCNK10	54207	broad.mit.edu	37	14	88729877	88729877	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:88729877G>T	ENST00000340700.5	-	2	507	c.56C>A	c.(55-57)gCa>gAa	p.A19E	KCNK10_ENST00000312350.5_Missense_Mutation_p.A24E|KCNK10_ENST00000319231.5_Missense_Mutation_p.A24E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	19					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCACACCGGTGCTGCTGCGGG	0.562000													30	45					1.55811e-20	2.34972e-20	0.008361	1	0
CORO7	79585	broad.mit.edu	37	16	4411088	4411088	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:4411088T>A	ENST00000251166.4	-	19	1920		c.e19-2		CORO7-PAM16_ENST00000572467.1_Splice_Site|CORO7_ENST00000539968.1_Splice_Site|CORO7_ENST00000537233.2_Splice_Site|CORO7_ENST00000423908.2_Splice_Site|CORO7_ENST00000574025.1_Splice_Site	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGTGTGGCCTGGAGGAAGGC	0.627000													9	24					0	0	0.004482	0	0
MBD2	8932	broad.mit.edu	37	18	51686216	51686216	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:51686216T>C	ENST00000256429.3	-	6	1395	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	389					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ACAAGATGTCTGCCATCAGTG	0.418000													31	6					0	0	0.002445	0	0
MYH11	4629	broad.mit.edu	37	16	15878555	15878555	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:15878555G>T	ENST00000452625.2	-	6	741	c.654_splice	c.e6+1	p.Y218_splice	MYH11_ENST00000576790.1_Intron|MYH11_ENST00000396324.3_Splice_Site_p.Y218_splice|MYH11_ENST00000300036.5_Intron|MYH11_ENST00000338282.6_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	211	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.Y218Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTTACTCACGTAGGCAAAAG	0.483000			T	CBFB	AML								13	19					0.000219431	0.000232318	0.002450	1	0
FAT3	120114	broad.mit.edu	37	11	92086518	92086518	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:92086518G>T	ENST00000298047.6	+	1	1257	c.1240G>T	c.(1240-1242)Ggt>Tgt	p.G414C	FAT3_ENST00000409404.2_Missense_Mutation_p.G414C|FAT3_ENST00000541502.1_Missense_Mutation_p.G414C|FAT3_ENST00000525166.1_Missense_Mutation_p.G264C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	414	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTATCTCCTGGTGAGGATGC	0.418000										TCGA Ovarian(4;0.039)			7	30					8.12818e-05	8.68982e-05	0.001984	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281550	145281550	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:145281550C>T	ENST00000369340.3	+	5	924	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NOTCH2NL_ENST00000362074.6_Silent_p.L160L|NOTCH2NL_ENST00000344859.3_Silent_p.L160L|RP11-458D21.5_ENST00000468030.1_Silent_p.L160L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	160	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.L160L(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCACCTGCCTCAACCTGCCTG	0.562000													15	185					0	0	0.004007	0	0
PSMA8	143471	broad.mit.edu	37	18	23738084	23738084	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:23738084A>T	ENST00000308268.6	+	4	461		c.e4-1		PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TTATTTTTCTAGAAATATACC	0.303000													50	4					0	0	0.003610	0	0
CD247	919	broad.mit.edu	37	1	167407857	167407857	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167407857C>A	ENST00000392122.3	-	4	394	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	CD247_ENST00000362089.5_Missense_Mutation_p.D84Y|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	84	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TCCAAAACATCGTACTCCTCT	0.552000													50	73					6.08268e-21	9.2297e-21	0.003610	1	0
SEC23IP	11196	broad.mit.edu	37	10	121662451	121662451	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:121662451A>G	ENST00000369075.3	+	3	909	c.837A>G	c.(835-837)gtA>gtG	p.V279V	SEC23IP_ENST00000543134.1_Silent_p.V68V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	279	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCAAGGAGGTAGAATACAAAC	0.418000													40	10					0	0	0.008740	0	0
ATP9B	374868	broad.mit.edu	37	18	77108132	77108132	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:77108132G>T	ENST00000426216.2	+	25	2856	c.2838_splice	c.e25-1	p.A947_splice	ATP9B_ENST00000543761.1_Splice_Site_p.A268_splice|ATP9B_ENST00000307671.7_Splice_Site_p.A947_splice	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	947					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)		CTCTCTCCAGGCTGTGTTTTC	0.567000													59	21					1.87469e-40	3.37651e-40	0.003610	1	0
ANO3	63982	broad.mit.edu	37	11	26664763	26664763	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:26664763G>T	ENST00000256737.3	+	23	3162	c.2310G>T	c.(2308-2310)gcG>gcT	p.A770A	ANO3_ENST00000531568.1_Silent_p.A624A|ANO3_ENST00000525139.1_Silent_p.A754A|ANO3_ENST00000537978.1_Silent_p.A754A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	770						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						TCTTTGTTGCGGCTTTTCCTC	0.383000													33	12					4.90274e-10	5.96895e-10	0.006230	1	0
ZNF90	7643	broad.mit.edu	37	19	20229559	20229559	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:20229559G>A	ENST00000418063.2	+	4	1308	c.1196G>A	c.(1195-1197)tGt>tAt	p.C399Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	399						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCCTACAAATGTGAAGAATGT	0.358000													3	8					0	0	0.004672	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624397	33624397	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33624397G>C	ENST00000504830.1	-	14	2417	c.2082C>G	c.(2080-2082)tgC>tgG	p.C694W	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	694	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTCCCAGGCACACACCGC	0.512000										HNSCC(64;0.19)			33	108					0	0	0.002445	0	0
TRPC7	57113	broad.mit.edu	37	5	135651404	135651404	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135651404G>T	ENST00000513104.1	-	3	1126	c.844C>A	c.(844-846)Cga>Aga	p.R282R	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	282					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTGTCTCGGCACAGGTCC	0.478000													21	4					3.6726e-16	5.08216e-16	0.003954	1	0
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141027836G>T	ENST00000389484.3	-	86	14193	c.13222C>A	c.(13222-13224)Ccc>Acc	p.P4408T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 14.				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)		TTTGTCTCGGGGTCCAGCTGG	0.403000										TSP Lung(27;0.18)			30	36					3.67414e-24	5.85064e-24	0.002445	1	0
TMEM132E	124842	broad.mit.edu	37	17	32959844	32959844	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:32959844C>A	ENST00000321639.5	+	7	1662	c.1334C>A	c.(1333-1335)cCc>cAc	p.P445H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	445						integral to membrane		p.P445H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCTGGGTCCCCAAGCTGCCC	0.597000													89	75					1.82171e-49	3.37705e-49	0.003610	1	0
IGSF22	283284	broad.mit.edu	37	11	18731902	18731902	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18731902G>C	ENST00000513874.1	-	17	2812	c.2673C>G	c.(2671-2673)tcC>tcG	p.S891S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	889	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTACTGAGCTGGATGGCACAC	0.493000													67	20					0	0	0.003610	0	0
RNF145	153830	broad.mit.edu	37	5	158596030	158596030	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:158596030C>A	ENST00000424310.2	-	8	1331	c.972G>T	c.(970-972)ctG>ctT	p.L324L	RNF145_ENST00000518802.1_Silent_p.L354L|RNF145_ENST00000519865.1_Silent_p.L324L|RNF145_ENST00000520638.1_Silent_p.L338L|RNF145_ENST00000521606.2_Silent_p.L341L|RNF145_ENST00000274542.2_Silent_p.L352L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	324						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCACTGCCAGGATTAACA	0.378000													34	15					1.69901e-12	2.17779e-12	0.005524	1	0
MPPED1	758	broad.mit.edu	37	22	43898595	43898595	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:43898595C>A	ENST00000417669.1	+	6	1264	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	MPPED1_ENST00000542779.1_Missense_Mutation_p.R274S|MPPED1_ENST00000538182.1_Missense_Mutation_p.R307S|MPPED1_ENST00000439548.1_Missense_Mutation_p.R116S|MPPED1_ENST00000414469.2_Missense_Mutation_p.R168S|MPPED1_ENST00000443721.1_Missense_Mutation_p.R274S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	274							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGTGCAGAGGCGCGTCCAGCC	0.617000													56	15					2.01871e-26	3.30014e-26	0.003610	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520564	72520564	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:72520564G>C	ENST00000373208.1	+	22	3636	c.3636G>C	c.(3634-3636)ctG>ctC	p.L1212L	ADAMTS14_ENST00000373207.1_Silent_p.L1209L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1209	Pro-rich.				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						GAGAAGACCTGAGACATCCCG	0.642000													25	8					0	0	0.005443	0	0
SLC28A3	64078	broad.mit.edu	37	9	86903039	86903039	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:86903039C>A	ENST00000376238.4	-	12	1253	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.A333S	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	402					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTAGCAGCAGCCAATGACGCA	0.428000													96	21					1.7666e-45	3.2352e-45	0.003610	1	0
POSTN	10631	broad.mit.edu	37	13	38153997	38153997	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:38153997C>A	ENST00000379747.4	-	12	1778		c.e12+1		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCACTTACGTATCAGAAT	0.403000													10	4					0.000673444	0.000704267	0.008291	1	0
PDLIM3	27295	broad.mit.edu	37	4	186429513	186429513	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:186429513T>C	ENST00000284770.5	-	5	675	c.602A>G	c.(601-603)aAt>aGt	p.N201S	PDLIM3_ENST00000284771.6_Intron|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	201						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TTCCATAATATTGTCATCTGA	0.418000													30	14					0	0	0.007291	0	0
SHANK1	50944	broad.mit.edu	37	19	51192614	51192614	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51192614A>T	ENST00000391813.1	-	1	47	c.48T>A	c.(46-48)ggT>ggA	p.G16G	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1194					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTGTCCCCCACCCGGCAACC	0.562000													7	16					0	0	0.001984	0	0
TM9SF1	10548	broad.mit.edu	37	14	24664018	24664018	+	Missense_Mutation	SNP	C	C	T	rs148543793		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24664018C>T	ENST00000530611.1	-	6	868	c.835G>A	c.(835-837)Gag>Aag	p.E279K	TM9SF1_ENST00000396854.4_Missense_Mutation_p.E70K|TM9SF1_ENST00000261789.4_Missense_Mutation_p.E70K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E279K|TM9SF1_ENST00000524835.1_5'UTR|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E70K			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	70					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.E70K(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CGTATCTTCTCAGGGCAGCAG	0.507000													617	511					0	0	0.003610	0	0
ZNF304	57343	broad.mit.edu	37	19	57868146	57868146	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57868146A>T	ENST00000391705.3	+	4	1193	c.909A>T	c.(907-909)ggA>ggT	p.G303G	ZNF304_ENST00000598744.1_Silent_p.G261G|ZNF304_ENST00000443917.2_Silent_p.G350G|ZNF304_ENST00000282286.5_Silent_p.G303G	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCACACTGGAAAAAGACACT	0.428000													17	49					0	0	0.008871	0	0
ZIC1	7545	broad.mit.edu	37	3	147131139	147131139	+	Splice_Site	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:147131139A>C	ENST00000282928.4	+	3	1875		c.e3-1			NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTATTCCTGCAGGTCCACGAA	0.632000													12	59					0	0	0.000978	0	0
NTSR2	23620	broad.mit.edu	37	2	11809768	11809768	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:11809768G>A	ENST00000306928.5	-	1	522	c.488C>T	c.(487-489)tCg>tTg	p.S163L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	163					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGCCGAGCGAGGCGGCCCA	0.746000													3	10					0	0	0.004672	0	0
MDM1	56890	broad.mit.edu	37	12	68710012	68710012	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:68710012C>G	ENST00000303145.7	-	8	1113	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	MDM1_ENST00000540418.1_Missense_Mutation_p.A63P|MDM1_ENST00000411698.2_Missense_Mutation_p.A308P	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	343						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TAAAACTCAGCCTTTTCTCGG	0.403000													16	2					0	0	0.004007	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911024	61911024	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:61911024C>T	ENST00000448276.2	-	10	1505	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	SMARCD2_ENST00000225742.9_Missense_Mutation_p.D339N|SMARCD2_ENST00000323347.10_Missense_Mutation_p.D366N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	414					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTCAGTGGGTCGTCCACCTCC	0.562000													13	51					0	0	0.002450	0	0
EGFR	1956	broad.mit.edu	37	7	55242491	55242491	+	Missense_Mutation	SNP	A	A	T	rs121913463		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55242491A>T	ENST00000275493.2	+	19	2438	c.2261A>T	c.(2260-2262)aAa>aTa	p.K754I	EGFR_ENST00000455089.1_Missense_Mutation_p.K709I|EGFR_ENST00000454757.2_Missense_Mutation_p.K701I|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	754	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.K754R(1)|p.K754I(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.K754A(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACATCTCCGAAAGCCAACAAG	0.493000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	46					0	0	0.003755	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251091	68251091	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:68251091C>A	ENST00000347230.4	-	20	3724	c.3586G>T	c.(3586-3588)Gtg>Ttg	p.V1196L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1196L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1196					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGATGTGACACCAGTTGGGAA	0.483000													51	161					9.53978e-28	1.58058e-27	0.003610	1	0
NUP210	23225	broad.mit.edu	37	3	13401954	13401954	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:13401954C>A	ENST00000254508.5	-	15	2052	c.1970G>T	c.(1969-1971)gGc>gTc	p.G657V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	657					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)					CTTTGAGGAGCCCAGGGTTAC	0.572000													16	6					1.15088e-07	1.3256e-07	0.004007	1	0
MED24	9862	broad.mit.edu	37	17	38209742	38209742	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:38209742C>A	ENST00000394126.1	-	1	603	c.185G>T	c.(184-186)tGg>tTg	p.W62L	MED24_ENST00000501516.3_Missense_Mutation_p.W37L|MED24_ENST00000394127.2_Missense_Mutation_p.W37L|MED24_ENST00000394128.2_Missense_Mutation_p.W37L|MED24_ENST00000356271.3_Missense_Mutation_p.W37L|MED24_ENST00000479829.1_5'UTR			O75448	MED24_HUMAN	mediator complex subunit 24	37					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.W37L(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAGAATATCCCAGGTGGCTCC	0.463000													209	38					7.15034e-89	1.37614e-88	0.003610	1	0
KAZALD1	81621	broad.mit.edu	37	10	102822830	102822830	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:102822830A>T	ENST00000370200.5	+	2	807	c.481A>T	c.(481-483)Act>Tct	p.T161S		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	161	Kazal-like.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TGCCAACCTCACTGTGGCACA	0.692000													26	9					0	0	0.004656	0	0
EPS8	2059	broad.mit.edu	37	12	15777257	15777257	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:15777257T>C	ENST00000281172.5	-	19	2565	c.2129A>G	c.(2128-2130)cAt>cGt	p.H710R	EPS8_ENST00000542903.1_Missense_Mutation_p.H450R|EPS8_ENST00000540613.1_Missense_Mutation_p.H450R|EPS8_ENST00000543612.1_Missense_Mutation_p.H710R|EPS8_ENST00000543523.1_Missense_Mutation_p.H710R	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	710					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCGTGGCACATGGAATTTCTT	0.493000													72	21					0	0	0.003610	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925427	67925427	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925427G>A	ENST00000304363.4	-	11	2739	c.2386C>T	c.(2386-2388)Cat>Tat	p.H796Y		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATTTTCATGAAGCCCCTCT	0.408000													154	115					0	0	0.003610	0	0
CHL1	10752	broad.mit.edu	37	3	433372	433372	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:433372A>T	ENST00000256509.2	+	23	3448	c.2806A>T	c.(2806-2808)Act>Tct	p.T936S	CHL1_ENST00000397491.2_Missense_Mutation_p.T920S	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	920	Fibronectin type-III 4.				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)		TGAACAGCCAACTTTTCTAAA	0.294000													32	6					0	0	0.003271	0	0
POU4F2	5458	broad.mit.edu	37	4	147561536	147561536	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147561536G>T	ENST00000281321.3	+	2	1054	c.806G>T	c.(805-807)cGc>cTc	p.R269L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	269	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AAGCAGCGACGCATCAAGCTG	0.687000													7	15					5.18039e-06	5.70598e-06	0.003080	1	0
MAPK3	5595	broad.mit.edu	37	16	30128053	30128053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30128053C>A	ENST00000484663.1	-	7	1867	c.734G>T	c.(733-735)cGg>cTg	p.R245L	MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000322266.5_Missense_Mutation_p.R315L|MAPK3_ENST00000263025.4_Missense_Mutation_p.R359L|MAPK3_ENST00000395202.1_Missense_Mutation_p.R315L|MAPK3_ENST00000395200.1_Missense_Mutation_p.R291L			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	359	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|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 histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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 initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTCCTTCAGCCGCTCCTTAGG	0.642000													28	34					4.59853e-10	5.60553e-10	0.005443	1	0
PCDH9	5101	broad.mit.edu	37	13	67801402	67801402	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:67801402T>A	ENST00000544246.1	-	2	1862	c.1171A>T	c.(1171-1173)Aag>Tag	p.K391*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.K391*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.K391*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.K391*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.K391*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTGTGTCCTTATCTGAAACT	0.378000													54	42					0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756523	94756523	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94756523G>T	ENST00000554723.1	-	2	946	c.528C>A	c.(526-528)acC>acA	p.T176T	SERPINA10_ENST00000393096.1_Silent_p.T136T|SERPINA10_ENST00000261994.4_Silent_p.T136T|SERPINA10_ENST00000554173.1_Silent_p.T136T			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	136					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)		GCCCGGGCTTGGTGGGCTTCA	0.602000													23	21					2.98393e-07	3.41095e-07	0.002780	1	0
TRPM8	79054	broad.mit.edu	37	2	234851361	234851361	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:234851361G>T	ENST00000324695.4	+	6	708	c.668G>T	c.(667-669)cGg>cTg	p.R223L	TRPM8_ENST00000409625.1_Missense_Mutation_p.R146L|TRPM8_ENST00000355722.4_Missense_Mutation_p.R173L|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	223						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)	GTCTCCAACCGGGACACCCTC	0.552000													39	79					9.73076e-26	1.57763e-25	0.006999	1	0
PSG8	440533	broad.mit.edu	37	19	43258502	43258502	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:43258502A>G	ENST00000404209.4	-	5	1322	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	PSG8_ENST00000401467.2_Missense_Mutation_p.M316T|PSG8_ENST00000306511.4_Missense_Mutation_p.M409T|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.M287T	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	409	Ig-like C2-type 3.					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)				TTTTACTGTCATGGATTTGGA	0.458000													211	48					0	0	0.003610	0	0
RNF212	285498	broad.mit.edu	37	4	1079701	1079701	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:1079701C>G	ENST00000382968.5	-	5	442	c.345G>C	c.(343-345)caG>caC	p.Q115H	RNF212_ENST00000433731.2_Missense_Mutation_p.Q115H	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	115							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GTTGTTCTATCTGCAGCACTG	0.498000													36	100					0	0	0.005524	0	0
PCDH1	5097	broad.mit.edu	37	5	141244741	141244741	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:141244741G>A	ENST00000287008.3	-	3	1302	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	PCDH1_ENST00000394536.3_Silent_p.P385P|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.P373P|PCDH1_ENST00000536585.1_Silent_p.P363P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	385	Cadherin 3.				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)		TCTCAATGGTGGGGGCATTGT	0.582000													78	12					0	0	0.003610	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102824467	102824467	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:102824467C>A	ENST00000312132.4	-	0	3920																											CACAACACACCATGCCTCTTC	0.303000													38	12					9.62906e-15	1.29066e-14	0.006230	1	0
SNHG14	104472715	broad.mit.edu	37	15	25232182	25232182	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25232182T>C	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TTGCTGAGAGTAGTGGAAGGA	0.383000													37	22					0	0	0.004289	0	0
SNX18	112574	broad.mit.edu	37	5	53839209	53839209	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:53839209C>A	ENST00000381410.4	+	2	2012	c.1822C>A	c.(1822-1824)Caa>Aaa	p.Q608K	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	461	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AATATTTTTCCAAAAAGTTAC	0.343000													14	98					7.93312e-07	8.91285e-07	0.002450	1	0
RNF214	257160	broad.mit.edu	37	11	117153860	117153860	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117153860G>A	ENST00000530849.1	+	12	1420	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	RNF214_ENST00000300650.4_Missense_Mutation_p.M660I|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Missense_Mutation_p.M660I|RNF214_ENST00000531287.1_Missense_Mutation_p.M505I			Q8ND24	RN214_HUMAN	ring finger protein 214	660	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TATGTCTAATGTGCCAGAAAC	0.488000													20	52					0	0	0.002780	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374103	95374103	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:95374103C>A	ENST00000494840.1	-	0	1758					NR_077228.1																						AGAATTCGTGCAGCGGATGTT	0.398000													8	8					5.4927e-09	6.54528e-09	0.004482	1	0
SERPINB2	5055	broad.mit.edu	37	18	61569721	61569721	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61569721A>T	ENST00000457692.1	+	8	1095	c.762A>T	c.(760-762)ctA>ctT	p.L254L	SERPINB2_ENST00000299502.4_Silent_p.L254L|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	254					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)	CTCAGATTCTAGAACTCCCAT	0.413000													40	6					0	0	0.006999	0	0
IFNA5	3442	broad.mit.edu	37	9	21304946	21304946	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:21304946G>A	ENST00000259555.4	-	1	366	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	104					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTGTCTAGAAGTGTCTCATCC	0.473000													44	57					0	0	0.009718	0	0
FGF4	2249	broad.mit.edu	37	11	69589549	69589549	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:69589549C>A	ENST00000168712.1	-	1	622	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	102					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CCGATGCGGCCGTCGGGGAGC	0.771000													4	2					1.23904e-05	1.35488e-05	0.000602	1	0
TTN	7273	broad.mit.edu	37	2	179614488	179614488	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179614488G>A	ENST00000360870.5	-	46	12861	c.12639C>T	c.(12637-12639)agC>agT	p.S4213S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3557							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)			ATAATTGGTGGCTACAATTAA	0.348000													10	28					0	0	0.006214	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675205	40675205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:40675205G>T	ENST00000416151.2	+	1	284	c.169G>T	c.(169-171)Gag>Tag	p.E57*	KNSTRN_ENST00000249776.8_Nonsense_Mutation_p.E57*|KNSTRN_ENST00000448395.2_Nonsense_Mutation_p.E57*	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCTTTTAAACGAGAGCGAGAA	0.622000													42	19					1.89013e-27	3.12109e-27	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179441953	179441953	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179441953C>A	ENST00000589042.1	-	324	69333	c.69109G>T	c.(69109-69111)Gtc>Ttc	p.V23037F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13972F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14164F|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14097F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V20469F|TTN_ENST00000591111.1_Missense_Mutation_p.V21396F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21396	Fibronectin type-III 67.						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)			ACATCAAGGACTGTTACCTTC	0.463000													10	19					0.00621372	0.0063693	0.006214	1	0
CHN2	1124	broad.mit.edu	37	7	29539621	29539621	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:29539621T>A	ENST00000222792.6	+	9	1408	c.878T>A	c.(877-879)gTg>gAg	p.V293E	CHN2_ENST00000409041.4_Missense_Mutation_p.V157E|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.V157E|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.V278E|CHN2_ENST00000539389.1_Missense_Mutation_p.V149E|CHN2_ENST00000539406.1_Missense_Mutation_p.V368E|CHN2_ENST00000495789.2_Missense_Mutation_p.V306E|CHN2_ENST00000424025.2_Missense_Mutation_p.V112E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	293	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGACCCATGGTGGTAGACATA	0.383000													12	39					0	0	0.000978	0	0
CNTN5	53942	broad.mit.edu	37	11	99827598	99827598	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:99827598G>T	ENST00000524871.1	+	8	1024	c.734G>T	c.(733-735)cGg>cTg	p.R245L	CNTN5_ENST00000527185.1_Missense_Mutation_p.R245L|CNTN5_ENST00000418526.2_Missense_Mutation_p.R171L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R245L|CNTN5_ENST00000279463.3_Missense_Mutation_p.R245L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	245	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACAGCCGGCGGTTCATCTCC	0.413000													14	49					6.72482e-11	8.35289e-11	0.003163	1	0
PRPS2	5634	broad.mit.edu	37	X	12817345	12817345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:12817345G>T	ENST00000380668.5	+	2	270	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	PRPS2_ENST00000489404.1_Missense_Mutation_p.V48L|PRPS2_ENST00000398491.2_Missense_Mutation_p.V48L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	48					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						TGGTGAAAGCGTGAGAGGGGA	0.488000													19	5					1.45105e-14	1.92657e-14	0.006122	1	0
CPED1	79974	broad.mit.edu	37	7	120935540	120935540	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:120935540A>T	ENST00000310396.5	+	23	3382	c.2915A>T	c.(2914-2916)aAa>aTa	p.K972I		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATTAAAATGAAAAGATCAAGA	0.328000													15	1					0	0	0.003163	0	0
CAPN10	11132	broad.mit.edu	37	2	241537463	241537463	+	Silent	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:241537463A>C	ENST00000391984.2	+	10	2098	c.1902A>C	c.(1900-1902)acA>acC	p.T634T	CAPN10_ENST00000354082.4_Silent_p.T479T|CAPN10_ENST00000352879.4_Silent_p.T100T|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.T634T	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	634	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCCGGACACAGAGGGGGCCT	0.657000													5	59					0	0	0.000602	0	0
FZD10	11211	broad.mit.edu	37	12	130647776	130647776	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:130647776G>C	ENST00000539839.1	+	1	773	c.191G>C	c.(190-192)cGa>cCa	p.R64P	FZD10_ENST00000229030.4_Missense_Mutation_p.E97Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				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)		GATGTGCACCGAGCAGGTCTC	0.652000													32	44					0	0	0.002096	0	0
REG1A	5967	broad.mit.edu	37	2	79348029	79348029	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79348029G>T	ENST00000233735.1	+	2	145	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	14					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						TCTCCTGCCTGATGTTTCTGT	0.458000													21	23					1.66031e-10	2.04545e-10	0.003954	1	0
POU5F1B	5462	broad.mit.edu	37	8	128428463	128428463	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:128428463C>A	ENST00000465342.2	+	2	1509	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P118T|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CTGCACCGTCCCCCCTGGTGC	0.597000													11	16					0.000673444	0.000704267	0.008291	1	0
NSFL1C	55968	broad.mit.edu	37	20	1426310	1426310	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:1426310C>A	ENST00000216879.4	-	8	1818		c.e8+1		NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ATGCAAGGTACCTGTGGCTGT	0.512000													17	137					1.45105e-14	1.92657e-14	0.006122	1	0
C20orf26	26074	broad.mit.edu	37	20	20051508	20051508	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:20051508A>T	ENST00000245957.5	+	3	230	c.154A>T	c.(154-156)Aac>Tac	p.N52Y	C20orf26_ENST00000451767.2_Missense_Mutation_p.N52Y|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.N52Y|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	52										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)		AGAAAAGGCCAACCTTGCTGT	0.473000													8	30					0	0	0.004482	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662025	24662025	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24662025C>T	ENST00000530611.1	-	7	1456	c.1423G>A	c.(1423-1425)Gct>Act	p.A475T	TM9SF1_ENST00000396854.4_Missense_Mutation_p.A266T|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A266T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A475T|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A179T|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A266T			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	266					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TTGTACCGAGCCAGGTCATTC	0.473000													63	71					0	0	0.003610	0	0
TRIM35	23087	broad.mit.edu	37	8	27145298	27145298	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:27145298C>A	ENST00000305364.4	-	6	1334	c.1251G>T	c.(1249-1251)acG>acT	p.T417T	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	417	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAGGGGCGACGTGGCTGGGT	0.667000													7	5					0.00198382	0.00205493	0.001984	1	0
ZNF341	84905	broad.mit.edu	37	20	32357894	32357894	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:32357894A>T	ENST00000375200.1	+	10	1783	c.1418A>T	c.(1417-1419)tAc>tTc	p.Y473F	ZNF341_ENST00000342427.2_Missense_Mutation_p.Y466F			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CTCAAGGTGTACAAGTGTGTG	0.577000													21	2					0	0	0.010504	0	0
CDH9	1007	broad.mit.edu	37	5	26916033	26916033	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:26916033C>A	ENST00000231021.4	-	3	401		c.e3-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.?(1)		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						CAGTGTGAAGCTTTAGAGAGG	0.343000													13	67					1.5842e-08	1.86964e-08	0.001855	1	0
MRPL3	11222	broad.mit.edu	37	3	131208896	131208896	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:131208896C>A	ENST00000264995.3	-	5	644	c.497G>T	c.(496-498)cGg>cTg	p.R166L	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Missense_Mutation_p.R193L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363000													15	15					8.60227e-14	1.1269e-13	0.004007	1	0
KDELC1	79070	broad.mit.edu	37	13	103450906	103450906	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:103450906G>T	ENST00000376004.4	-	1	451	c.115C>A	c.(115-117)Cta>Ata	p.L39I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	39						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTGCTTTTAGCCCGGGTCCC	0.527000													34	17					1.22384e-17	1.75152e-17	0.002836	1	0
RNF149	284996	broad.mit.edu	37	2	101924612	101924612	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:101924612T>A	ENST00000295317.3	-	1	546	c.439A>T	c.(439-441)Acc>Tcc	p.T147S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	147	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGGGCAAGGTGATGTTCCCG	0.687000													19	47					0	0	0.008871	0	0
NRXN1	9378	broad.mit.edu	37	2	50318579	50318579	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50318579A>G	ENST00000404971.1	-	20	5059	c.3720T>C	c.(3718-3720)atT>atC	p.I1240I	NRXN1_ENST00000342183.5_Silent_p.I165I|NRXN1_ENST00000402717.3_Silent_p.I1192I|NRXN1_ENST00000401669.2_Silent_p.I1200I|NRXN1_ENST00000405472.3_Silent_p.I1192I|NRXN1_ENST00000401710.1_Silent_p.I218I|NRXN1_ENST00000406859.3_Silent_p.I1200I|NRXN1_ENST00000406316.2_Silent_p.I1200I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1200	Laminin G-like 6.				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)			TGGATTCTTCAATGGCGATGT	0.438000													50	55					0	0	0.003610	0	0
SOX2	6657	broad.mit.edu	37	3	181430578	181430578	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:181430578G>C	ENST00000325404.1	+	1	857	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R	SOX2_ENST00000431565.2_Missense_Mutation_p.G144R	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	144					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GAGCGGGGTCGGGGTGGGCGC	0.677000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						7	14					0	0	0.003080	0	0
BTNL2	56244	broad.mit.edu	37	6	32370752	32370752	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32370752G>A	ENST00000454136.3	-	3	673	c.669C>T	c.(667-669)ccC>ccT	p.P223P	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374993.1_Silent_p.P223P|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	223	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CAGTGAGGACGGGGTTGTGGA	0.587000													4	35					0	0	0.009096	0	0
GCNT2	2651	broad.mit.edu	37	6	10529945	10529945	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:10529945G>T	ENST00000379597.3	+	1	1357	c.801G>T	c.(799-801)gtG>gtT	p.V267V	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.V267V			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	267						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CGGCCTACGTGGCTCTCACAA	0.453000													30	131					1.75199e-13	2.2799e-13	0.007291	1	0
MSH4	4438	broad.mit.edu	37	1	76345744	76345744	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76345744G>C	ENST00000263187.3	+	13	1791	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	563					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GATTTCTAAAGTGAAAAATTC	0.279000								Mismatch excision repair (MMR)					14	9					0	0	0.001855	0	0
OR8J3	81168	broad.mit.edu	37	11	55904345	55904345	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55904345T>C	ENST00000301529.1	-	1	849	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGATTCAGCATAGGAATCACC	0.363000													24	57					0	0	0.002299	0	0
PDE8B	8622	broad.mit.edu	37	5	76633113	76633113	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:76633113G>C	ENST00000264917.5	+	6	815	c.770G>C	c.(769-771)gGg>gCg	p.G257A	PDE8B_ENST00000346042.3_Missense_Mutation_p.G257A|PDE8B_ENST00000340978.3_Missense_Mutation_p.G257A|PDE8B_ENST00000342343.4_Missense_Mutation_p.G237A|PDE8B_ENST00000333194.4_Missense_Mutation_p.G257A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	257					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)		ATAGAACATGGGGAAGTTCGC	0.333000													11	0					0	0	0.000978	0	0
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	C	G	rs139229616	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:189899755C>G	ENST00000374866.3	-	53	4514	c.4240G>C	c.(4240-4242)Gat>Cat	p.D1414H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1414	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTAGCTTGATCGTCCATGTAT	0.383000													19	43					0	0	0.008871	0	0
DNMT1	1786	broad.mit.edu	37	19	10254444	10254444	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:10254444G>A	ENST00000340748.4	-	28	3301	c.3066C>T	c.(3064-3066)taC>taT	p.Y1022Y	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.Y1022Y|DNMT1_ENST00000359526.4_Silent_p.Y1038Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1022	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTGCTGACCTGTAGAACTTGT	0.512000													157	281					0	0	0.003610	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175669	118175669	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:118175669G>T	ENST00000427715.2	+	9	1016	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SLC30A8_ENST00000521243.1_Missense_Mutation_p.E194D|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E194D|SLC30A8_ENST00000456015.2_Missense_Mutation_p.E243D	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	243					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTAGCCAGAGTATAAAATAG	0.388000													22	82					3.7963e-18	5.47303e-18	0.003330	1	0
NRXN2	9379	broad.mit.edu	37	11	64434732	64434732	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64434732A>G	ENST00000265459.6	-	9	2249	c.1788T>C	c.(1786-1788)gaT>gaC	p.D596D	NRXN2_ENST00000409571.1_Silent_p.D589D|NRXN2_ENST00000377551.1_Silent_p.D596D|NRXN2_ENST00000377559.3_Silent_p.D565D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	596	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.D596D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTTTCGCCCATCCCTCTGGA	0.592000													16	47					0	0	0.003163	0	0
AMY2A	279	broad.mit.edu	37	1	104160642	104160642	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:104160642C>G	ENST00000414303.2	+	2	299	c.235C>G	c.(235-237)Cca>Gca	p.P79A		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	79					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AAGATACCAACCAGTTAGCTA	0.353000													30	70					0	0	0.009535	0	0
ATOH1	474	broad.mit.edu	37	4	94750813	94750813	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:94750813G>T	ENST00000306011.3	+	1	772	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	246					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCCTATGAAGGGGGCGCGGG	0.716000													17	22					3.32936e-07	3.78818e-07	0.006122	1	0
VCAN	1462	broad.mit.edu	37	5	82836030	82836030	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:82836030C>A	ENST00000265077.3	+	8	7773	c.7208C>A	c.(7207-7209)gCt>gAt	p.A2403D	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1416D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2403	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)		GATTTTCTGGCTAGAGCTTAT	0.383000													21	5					3.10358e-05	3.36936e-05	0.002299	1	0
ASTN2	23245	broad.mit.edu	37	9	119625893	119625893	+	Translation_Start_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:119625893G>T	ENST00000361477.3	-	0	1956				ASTN2_ENST00000313400.4_Missense_Mutation_p.S670Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.S619Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.S666Y			O75129	ASTN2_HUMAN	astrotactin 2							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						CTGCCGGTCAGACACACACTT	0.577000													20	9					6.44725e-10	7.84449e-10	0.002299	1	0
WDFY3	23001	broad.mit.edu	37	4	85660262	85660262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:85660262C>A	ENST00000322366.6	-	40	6882	c.6475G>T	c.(6475-6477)Gga>Tga	p.G2159*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.G2159*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2159						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)		AGTCCAAATCCATCCACGTTG	0.413000													22	23					1.9806e-07	2.27595e-07	0.002299	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74541699	74541699	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:74541699T>A	ENST00000553458.1	-	2	168	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S24C|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	24						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	CAGGTGGGACTGGATTTCACC	0.368000													11	8					0	0	0.000978	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017722	203017722	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203017722G>A	ENST00000367240.2	+	11	1763	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	PPFIA4_ENST00000414050.2_Silent_p.R119R|PPFIA4_ENST00000447715.2_Silent_p.R416R|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	108					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCGCCAGCGGGAAAAGATGA	0.647000													6	7					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179664219	179664219	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179664219C>A	ENST00000589042.1	-	6	1133	c.909G>T	c.(907-909)ccG>ccT	p.P303P	TTN_ENST00000460472.2_Silent_p.P303P|TTN_ENST00000360870.5_Silent_p.P303P|TTN_ENST00000342175.6_Silent_p.P303P|TTN_ENST00000359218.5_Silent_p.P303P|TTN_ENST00000342992.6_Silent_p.P303P|TTN_ENST00000591111.1_Silent_p.P303P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	303	ZIS1.						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)			TTTACCTGACCGGAGATGGGG	0.562000													27	27					1.12875e-08	1.33776e-08	0.006320	1	0
CGREF1	10669	broad.mit.edu	37	2	27322662	27322662	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27322662G>T	ENST00000402550.1	-	6	669	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	CGREF1_ENST00000452318.2_Missense_Mutation_p.P110Q|KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_3'UTR|KHK_ENST00000260599.6_3'UTR	NM_001166240.1	NP_001159712.1	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 2.				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)					CTACCATTGCGGCTGCATCGC	0.622000													10	11					0.00621372	0.0063693	0.006214	1	0
OR2Z1	284383	broad.mit.edu	37	19	8842092	8842092	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:8842092A>G	ENST00000324060.2	+	1	777	c.702A>G	c.(700-702)agA>agG	p.R234R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGAGGCCAGACACAAGGCTG	0.587000													49	10					0	0	0.003610	0	0
FAM13A	10144	broad.mit.edu	37	4	89649693	89649693	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:89649693C>G	ENST00000264344.5	-	24	3270	c.3063G>C	c.(3061-3063)aaG>aaC	p.K1021N	FAM13A_ENST00000511976.1_Missense_Mutation_p.K607N|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000395002.2_Missense_Mutation_p.K667N|FAM13A_ENST00000508369.1_Missense_Mutation_p.K695N|FAM13A_ENST00000503556.1_Missense_Mutation_p.K681N|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000513837.1_Missense_Mutation_p.K667N	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	1021					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTCACATGGACTTGGAATCAG	0.547000													17	34					0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152191741	152191741	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152191741G>A	ENST00000368801.2	-	3	2439	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	788					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCTGGAGGAGTGCCCTG	0.602000													36	37					0	0	0.003755	0	0
TMCO3	55002	broad.mit.edu	37	13	114202690	114202690	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:114202690G>T	ENST00000434316.2	+	12	2202	c.1843G>T	c.(1843-1845)Gcg>Tcg	p.A615S	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	615						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GATCGTCTCTGCGGGGCTTGC	0.627000													43	32					4.64027e-19	6.81984e-19	0.003610	1	0
BRINP3	339479	broad.mit.edu	37	1	190068145	190068145	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:190068145C>A	ENST00000367462.3	-	8	1535	c.1304G>T	c.(1303-1305)tGc>tTc	p.C435F	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.C333F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		435						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)					GAACGCGGTGCAGACCACCTG	0.602000													27	28					3.28513e-13	4.25249e-13	0.003954	1	0
KRT34	3885	broad.mit.edu	37	17	39538006	39538006	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39538006G>C	ENST00000394001.1	-	2	546	c.516C>G	c.(514-516)aaC>aaG	p.N172K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	172	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATTGTCAATGTTCACCACCA	0.448000													62	12					0	0	0.003610	0	0
PUM2	23369	broad.mit.edu	37	2	20482713	20482713	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20482713G>A	ENST00000361078.2	-	11	1737	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	PUM2_ENST00000403432.1_Missense_Mutation_p.S572L|PUM2_ENST00000536417.1_Missense_Mutation_p.S516L|PUM2_ENST00000338086.5_Missense_Mutation_p.S572L|PUM2_ENST00000319801.5_Missense_Mutation_p.S572L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	572	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCTGATGAACCAAATCC	0.408000													17	27					0	0	0.006122	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596345	41596345	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41596345C>T	ENST00000330436.3	+	4	530	c.530C>T	c.(529-531)aCa>aTa	p.T177I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTGAGCCGCACAGTCTCCAAT	0.552000													76	22					0	0	0.003610	0	0
SMO	6608	broad.mit.edu	37	7	128843410	128843410	+	Missense_Mutation	SNP	C	C	A	rs143083812	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128843410C>A	ENST00000249373.3	+	2	797	c.517C>A	c.(517-519)Cgc>Agc	p.R173S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	173	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTCCTGACCGCTTCCCTGA	0.677000			Mis		skin basal cell								9	10					1.58986e-06	1.77505e-06	0.008291	1	0
NUP133	55746	broad.mit.edu	37	1	229622275	229622275	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:229622275C>A	ENST00000261396.3	-	11	1434	c.1342_splice	c.e11-1	p.G448_splice	NUP133_ENST00000537506.1_Splice_Site_p.G432_splice|NUP133_ENST00000366679.1_Splice_Site_p.G448_splice	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	448			G -> R (in a breast cancer sample; somatic mutation).		carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AACACTATCTCCTAAAAGAAA	0.353000													19	5					7.07596e-05	7.60627e-05	0.006122	1	0
LST3	0	broad.mit.edu	37	12	21229434	21229434	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:21229434G>T	ENST00000540229.1	+	15	2044	c.1979G>T	c.(1978-1980)tGt>tTt	p.C660F	RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.V53L|LST3_ENST00000381541.3_Missense_Mutation_p.C599F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C599F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C660F|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.C552F																							GATACAACGTGTATGAAGTGG	0.358000													85	63					1.37401e-58	2.59359e-58	0.003610	1	0
WNT8A	7478	broad.mit.edu	37	5	137420278	137420278	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:137420278G>T	ENST00000506684.1	+	2	484	c.248G>T	c.(247-249)tGc>tTc	p.C83F	WNT8A_ENST00000398754.1_Missense_Mutation_p.C65F			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	65					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGCTGGAACTGCCCTGAAAAT	0.527000													48	5					2.01872e-29	3.40204e-29	0.003610	1	0
ATG2A	23130	broad.mit.edu	37	11	64676542	64676542	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64676542G>A	ENST00000421419.2	-	16	2399	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	ATG2A_ENST00000377264.3_Missense_Mutation_p.S762L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	762							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACTCTCCACTGACAGCTCCAG	0.622000													19	36					0	0	0.007413	0	0
CRYGC	1420	broad.mit.edu	37	2	208994375	208994375	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208994375G>T	ENST00000282141.3	-	2	79	c.42C>A	c.(40-42)ggC>ggA	p.G14G		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	14	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGTAGCTGCGGCCCTGGAAGG	0.517000													62	93					1.48873e-21	2.27831e-21	0.003610	1	0
OR52N1	79473	broad.mit.edu	37	11	5809322	5809322	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5809322G>T	ENST00000317078.1	-	1	724	c.725C>A	c.(724-726)aCc>aAc	p.T242N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAGTGCAGGTGCTGAAGGC	0.473000													21	41					2.54575e-18	3.68365e-18	0.010504	1	0
CADPS	8618	broad.mit.edu	37	3	62860663	62860663	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:62860663G>C	ENST00000383710.4	-	1	391	c.42C>G	c.(40-42)atC>atG	p.I14M	CADPS_ENST00000490353.2_Missense_Mutation_p.I14M|CADPS_ENST00000357948.3_Missense_Mutation_p.I14M|CADPS_ENST00000283269.9_Missense_Mutation_p.I14M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	14					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCTCCTCCACGATCTCATCCG	0.706000													7	2					0	0	0.003080	0	0
DNAH8	1769	broad.mit.edu	37	6	38738285	38738285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38738285G>T	ENST00000359357.3	+	10	1317	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E355*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E572*					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						TGAGGTTTCAGAAATGTATAT	0.363000													17	31					2.23348e-06	2.47815e-06	0.004007	1	0
SULF1	23213	broad.mit.edu	37	8	70551059	70551059	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:70551059G>A	ENST00000260128.4	+	21	3234	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	SULF1_ENST00000402687.4_Silent_p.K839K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.K839K|SULF1_ENST00000458141.2_Silent_p.K839K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	839					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGGATATAAGCAGTGCAACC	0.388000													14	51					0	0	0.003163	0	0
ZEB2	9839	broad.mit.edu	37	2	145274875	145274875	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:145274875G>T	ENST00000558170.2	-	2	1227	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	ZEB2_ENST00000470879.1_Missense_Mutation_p.R15S|ZEB2_ENST00000409487.3_Missense_Mutation_p.R15S|ZEB2_ENST00000465070.1_Missense_Mutation_p.R15S|ZEB2_ENST00000303660.4_Missense_Mutation_p.R15S|ZEB2_ENST00000539609.3_Missense_Mutation_p.R15S|ZEB2_ENST00000462355.1_Missense_Mutation_p.R15S|ZEB2_ENST00000493689.1_5'UTR	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	15						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTGTTTGCGCCTCTTGCAC	0.602000													53	46					1.0442e-30	1.77649e-30	0.003610	1	0
VWF	7450	broad.mit.edu	37	12	6121286	6121286	+	Silent	SNP	C	C	T	rs144221902		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6121286C>T	ENST00000261405.5	-	33	5885	c.5631G>A	c.(5629-5631)agG>agA	p.R1877R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1877					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGCAAATCCTAACAAATC	0.428000													103	28					0	0	0.003610	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406604	37406604	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:37406604G>T	ENST00000535679.1	-	4	525	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Q138K|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Q138K			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	176						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCCATACCTTGTCCTTTCATG	0.373000													32	38					4.3181e-19	6.3511e-19	0.002836	1	0
SPDYC	387778	broad.mit.edu	37	11	64938797	64938797	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64938797G>T	ENST00000377185.2	+	2	108		c.e2-1			NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C						cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTTCTCTACAGGTCACCCTGC	0.592000													62	138					5.10652e-33	8.8486e-33	0.003610	1	0
UNC79	57578	broad.mit.edu	37	14	94088153	94088153	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94088153G>T	ENST00000553484.1	+	31	4794	c.4640G>T	c.(4639-4641)cGg>cTg	p.R1547L	UNC79_ENST00000393151.2_Missense_Mutation_p.R1525L|UNC79_ENST00000555664.1_Missense_Mutation_p.R1525L|UNC79_ENST00000256339.4_Missense_Mutation_p.R1348L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1525						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						TGCATAGATCGGTGTGACATA	0.453000													24	40					1.10923e-09	1.33802e-09	0.002780	1	0
ATR	545	broad.mit.edu	37	3	142232433	142232433	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:142232433C>T	ENST00000350721.4	-	26	4672	c.4551G>A	c.(4549-4551)atG>atA	p.M1517I	ATR_ENST00000383101.3_Missense_Mutation_p.M1453I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1517					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATGCTTCATCATAATGCTAC	0.363000								Other conserved DNA damage response genes					10	27					0	0	0.006214	0	0
TMEM131	23505	broad.mit.edu	37	2	98392311	98392311	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:98392311T>G	ENST00000186436.5	-	32	4543	c.4315A>C	c.(4315-4317)Aag>Cag	p.K1439Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1439	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGTACCTCCTTGAGGAGCGGT	0.512000													15	19					0	0	0.004007	0	0
FLNC	2318	broad.mit.edu	37	7	128486948	128486948	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128486948G>C	ENST00000325888.8	+	24	4538	c.4277G>C	c.(4276-4278)cGg>cCg	p.R1426P	FLNC_ENST00000346177.6_Missense_Mutation_p.R1426P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1426					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						TTCGGGGGGCGGCCCATCCCA	0.592000													41	33					0	0	0.009718	0	0
IL16	3603	broad.mit.edu	37	15	81578048	81578048	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:81578048C>A	ENST00000394660.2	+	10	1569	c.1209C>A	c.(1207-1209)gaC>gaA	p.D403E	IL16_ENST00000302987.4_Missense_Mutation_p.D403E	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	403	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGTGTGGGGACGAGATTGTGG	0.527000													40	17					1.60099e-16	2.228e-16	0.004878	1	0
AGPAT6	137964	broad.mit.edu	37	8	41469465	41469465	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:41469465C>G	ENST00000396987.3	+	6	1582	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	219					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AATGTGTTACCGGATCTGCGT	0.458000													11	50					0	0	0.000978	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862500	25862500	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:25862500A>T	ENST00000397060.4	-	3	373	c.264T>A	c.(262-264)ttT>ttA	p.F88L	SLC17A3_ENST00000361703.6_Missense_Mutation_p.F88L|SLC17A3_ENST00000360657.3_Missense_Mutation_p.F88L	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	88					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						TTAGGCCACCAAATGAGTCAA	0.413000													23	55					0	0	0.003330	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562593	140562593	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140562593T>C	ENST00000361016.2	+	1	1614	c.459T>C	c.(457-459)ccT>ccC	p.P153P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		153	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGTTCCCTCTGAATCATG	0.393000													21	7					0	0	0.010504	0	0
CHN1	1123	broad.mit.edu	37	2	175742768	175742768	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:175742768C>A	ENST00000409900.3	-	6	662	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.V117L	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	117	SH2.				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)			CCATCAGTCACCAGATCGTGG	0.438000			T	TAF15	extraskeletal myxoid chondrosarcoma								21	54					7.41877e-09	8.8092e-09	0.001882	1	0
FMN2	56776	broad.mit.edu	37	1	240255968	240255968	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:240255968C>T	ENST00000319653.9	+	1	789	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	187					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)			CTATAGCTTCCATTCGGCTAC	0.622000													43	12					0	0	0.003610	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065005	55065005	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55065005C>A	ENST00000526016.1	-	0	420					NR_038174.2																						CTGAGATTTTCACAAGCTTTT	0.398000													26	15					2.44723e-14	3.23608e-14	0.004656	1	0
FAM171A1	221061	broad.mit.edu	37	10	15296861	15296861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:15296861G>T	ENST00000378116.4	-	4	442	c.436C>A	c.(436-438)Cgc>Agc	p.R146S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	146						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAATGAACGCGAGGCTGTGGC	0.552000													16	3					1.45105e-14	1.92657e-14	0.006122	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8222142	8222142	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:8222142G>T	ENST00000361926.3	+	12	2057	c.1947G>T	c.(1945-1947)ggG>ggT	p.G649G	ARHGEF15_ENST00000421050.1_Silent_p.G649G|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	649					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCGGAGGGGGGGCGTGCTCT	0.647000													81	251					1.30681e-28	2.1929e-28	0.003610	1	0
LOC440040	440040	broad.mit.edu	37	11	49598110	49598110	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49598110G>T	ENST00000527477.1	+	0	714																											TTCGGCTGTGGCCCTAGAGCA	0.522000													10	14					0.000442599	0.000465084	0.006214	1	0
RFWD2	64326	broad.mit.edu	37	1	175957423	175957423	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175957423C>A	ENST00000367669.3	-	17	2487		c.e17+1		RFWD2_ENST00000308769.8_Splice_Site	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTCACTTACCACAAGCTAT	0.368000													8	12					0.00448238	0.00461629	0.004482	1	0
OR4K13	390433	broad.mit.edu	37	14	20502265	20502265	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20502265T>A	ENST00000315693.2	-	1	654	c.653A>T	c.(652-654)tAt>tTt	p.Y218F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATGACTCCATAGGAGACAAG	0.483000													52	9					0	0	0.003610	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070047	114070047	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:114070047T>G	ENST00000462705.1	-	11	1480	c.659A>C	c.(658-660)gAg>gCg	p.E220A	ZBTB20_ENST00000481632.1_Missense_Mutation_p.E220A|ZBTB20_ENST00000474710.1_Missense_Mutation_p.E293A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E220A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E220A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E220A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E220A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGCGAGCGCTCATGGATGCG	0.657000													64	31					0	0	0.003610	0	0
TK1	7083	broad.mit.edu	37	17	76171087	76171087	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:76171087A>G	ENST00000588734.1	-	6	795	c.557T>C	c.(556-558)aTg>aCg	p.M186T	TK1_ENST00000405273.1_Intron|TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000301634.7_Intron			P04183	KITH_HUMAN	thymidine kinase 1, soluble	171					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			AGGCAGAGCCATACCCCCACC	0.647000													12	5					0	0	0.000978	0	0
RP1	6101	broad.mit.edu	37	8	55541689	55541689	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:55541689A>T	ENST00000220676.1	+	4	5395	c.5247A>T	c.(5245-5247)aaA>aaT	p.K1749N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1749					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)			GGCTTCTGAAAGAAAATCATT	0.418000													15	32					0	0	0.004007	0	0
IGF2	3481	broad.mit.edu	37	11	2161380	2161380	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:2161380C>A	ENST00000434045.2	-	2	531	c.147G>T	c.(145-147)gtG>gtT	p.V49V	IGF2_ENST00000381389.1_Intron|IGF2_ENST00000337883.6_Intron|IGF2_ENST00000300632.5_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGCCGAGCTCACCGGGGTGC	0.592000													10	32					0.000442599	0.000465084	0.006214	1	0
KCNJ9	3765	broad.mit.edu	37	1	160057416	160057416	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:160057416C>A	ENST00000368088.3	+	3	1233	c.991C>A	c.(991-993)Cct>Act	p.P331T		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	331					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCCCACACCTTCGTGCAG	0.612000													24	47					4.4004e-07	4.97514e-07	0.003330	1	0
HTR1A	3350	broad.mit.edu	37	5	63257032	63257032	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:63257032A>C	ENST00000323865.3	-	1	748	c.515T>G	c.(514-516)aTg>aGg	p.M172R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	172				M -> I (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			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)	CCAGCCCAGCATGGGCGGGAT	0.597000													101	31					0	0	0.003610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150226	37150226	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:37150226G>C	ENST00000262879.6	+	10	1788	c.1504G>C	c.(1504-1506)Gca>Cca	p.A502P	RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A280P|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A502P|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A502P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	502					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TATGTTTGATGCAAGTGAATT	0.448000													81	9					0	0	0.003610	0	0
SMAP1	60682	broad.mit.edu	37	6	71567637	71567637	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:71567637G>T	ENST00000370455.3	+	10	1222	c.974G>T	c.(973-975)gGa>gTa	p.G325V	SMAP1_ENST00000316999.5_Missense_Mutation_p.G298V|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Missense_Mutation_p.G298V	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	325					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GTATTTATGGGACCCACAAAT	0.443000													37	26					4.90274e-10	5.96895e-10	0.006230	1	0
AGXT2	64902	broad.mit.edu	37	5	35039598	35039598	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35039598G>T	ENST00000231420.6	-	3	393	c.193C>A	c.(193-195)Cgt>Agt	p.R65S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	65					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCCAGGACACGGTTGTAGCCA	0.473000													33	94					1.22384e-17	1.75152e-17	0.002836	1	0
NTNG1	22854	broad.mit.edu	37	1	107937821	107937821	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:107937821C>A	ENST00000370067.1	+	4	1560	c.933C>A	c.(931-933)agC>agA	p.S311R	NTNG1_ENST00000370070.2_Missense_Mutation_p.S311R|NTNG1_ENST00000370074.4_Missense_Mutation_p.S311R|NTNG1_ENST00000370071.2_Missense_Mutation_p.S311R|NTNG1_ENST00000370066.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370072.3_Missense_Mutation_p.S311R|NTNG1_ENST00000370061.3_Missense_Mutation_p.S311R|NTNG1_ENST00000370065.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370068.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370073.2_Missense_Mutation_p.S311R|NTNG1_ENST00000542803.1_Missense_Mutation_p.S311R			Q9Y2I2	NTNG1_HUMAN	netrin G1	311	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATGACAACAGCAAATTGACAT	0.478000													44	70					1.61863e-15	2.21029e-15	0.003610	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162827	33162827	+	RNA	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33162827C>T	ENST00000510327.1	-	0	346																											AAGGCCGGGACAGTGTGGCCG	0.478000													16	38					0	0	0.004990	0	0
OR8D2	283160	broad.mit.edu	37	11	124189589	124189589	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124189589A>G	ENST00000357438.2	-	1	595	c.505T>C	c.(505-507)Tgt>Cgt	p.C169R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGAGACCTACAGAATGACAAC	0.453000													29	68					0	0	0.005443	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77333351	77333351	+	Translation_Start_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:77333351G>A	ENST00000477717.1	+	0	226				ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5						protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCACAAAAGAGGTGCCCAAAA	0.607000													10	55					0	0	0.000978	0	0
DEK	7913	broad.mit.edu	37	6	18250037	18250037	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:18250037C>A	ENST00000397239.3	-	7	1054	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C	DEK_ENST00000244776.7_Missense_Mutation_p.G169C	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	203					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTTTTACTGCCTTTGCTACAA	0.348000			T	NUP214	AML								20	28					8.00594e-06	8.78374e-06	0.007413	1	0
PADI6	353238	broad.mit.edu	37	1	17708469	17708469	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:17708469G>A	ENST00000434762.2	+	0	611							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAAATAACGAATCTGTCCC	0.507000													11	142					0	0	0.000978	0	0
PLCB1	23236	broad.mit.edu	37	20	8717814	8717814	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8717814A>T	ENST00000378641.3	+	20	2658	c.2183A>T	c.(2182-2184)gAa>gTa	p.E728V	PLCB1_ENST00000378637.2_Missense_Mutation_p.E728V|PLCB1_ENST00000338037.6_Missense_Mutation_p.E728V|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	728	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGTCTGGGAAGAAGAACCT	0.378000													15	42					0	0	0.003163	0	0
NPAP1	23742	broad.mit.edu	37	15	24923130	24923130	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923130T>A	ENST00000329468.2	+	1	2590	c.2116T>A	c.(2116-2118)Tcc>Acc	p.S706T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACTCCTCCTTCCAAGGCTGT	0.512000													60	143					0	0	0.003610	0	0
KCND3	3752	broad.mit.edu	37	1	112524472	112524472	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:112524472G>A	ENST00000369697.1	-	1	946	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	KCND3_ENST00000302127.4_Missense_Mutation_p.R293C|KCND3_ENST00000315987.2_Missense_Mutation_p.R293C			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	293						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.R293C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGAAGACGCGGAAGACCCGG	0.587000													20	29					0	0	0.008871	0	0
FOLH1	2346	broad.mit.edu	37	11	49175458	49175458	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49175458T>C	ENST00000340334.7	-	18	2233	c.1865A>G	c.(1864-1866)aAg>aGg	p.K622R	FOLH1_ENST00000356696.3_Missense_Mutation_p.K637R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K637R|FOLH1_ENST00000533034.1_Missense_Mutation_p.K622R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K329R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	637					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTAAAATTCTTTACTGCAGA	0.338000													9	36					0	0	0.004482	0	0
PYGM	5837	broad.mit.edu	37	11	64525786	64525786	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64525786C>A	ENST00000164139.3	-	4	858	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCATAGGCGGCCAGGCCCAGT	0.602000													87	60					3.59392e-34	6.26069e-34	0.003610	1	0
WNK3	65267	broad.mit.edu	37	X	54282275	54282275	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:54282275A>G	ENST00000354646.2	-	12	2586	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	WNK3_ENST00000375159.2_Silent_p.P716P|WNK3_ENST00000375169.3_Silent_p.P716P	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	716					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGGTTATCAGGGCTACTGA	0.418000													3	38					0	0	0.009096	0	0
SSX1	6756	broad.mit.edu	37	X	48121247	48121247	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48121247G>C	ENST00000376919.3	+	5	463	c.327G>C	c.(325-327)ccG>ccC	p.P109P		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAATCATCCCGAAGGTGAGTA	0.408000			T	SS18	synovial sarcoma								27	3					0	0	0.009535	0	0
IRF2	3660	broad.mit.edu	37	4	185339812	185339812	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:185339812T>A	ENST00000393593.3	-	4	445	c.238A>T	c.(238-240)Aat>Tat	p.N80Y	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	80					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CATCTGAAATTCGCCTTCCAT	0.388000													12	4					0	0	0.001368	0	0
OLFM4	10562	broad.mit.edu	37	13	53616220	53616220	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:53616220G>T	ENST00000219022.2	+	3	611	c.533G>T	c.(532-534)gGt>gTt	p.G178V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	178					cell adhesion	extracellular space		p.G178V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GAGAGTTTTGGTGGAAGCTCA	0.428000													5	5					0.000602214	0.000631121	0.000602	1	0
COL6A3	1293	broad.mit.edu	37	2	238303671	238303671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238303671C>A	ENST00000295550.4	-	3	720	c.268G>T	c.(268-270)Gag>Tag	p.E90*	COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E90*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E90*|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	90	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACAGGAACTCGGTATGTGGG	0.383000													31	27					3.1745e-13	4.1147e-13	0.008361	1	0
DMD	1756	broad.mit.edu	37	X	32717412	32717412	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:32717412T>C	ENST00000357033.4	-	8	856		c.e8-2		DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000288447.4_Splice_Site	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						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)				TATCAACATCTGTAAGCACAT	0.353000													8	6					0	0	0.004482	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486999	20486999	+	Nonsense_Mutation	SNP	C	C	A	rs145558453	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20486999C>A	ENST00000573854.1	+	8	1116	c.1002C>A	c.(1000-1002)tgC>tgA	p.C334*	ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.C334*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.C334*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.C106*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.C255*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.C334*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	334					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.C334C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TACAGAACTGCGTCACTGTAG	0.517000													49	84					1.30916e-28	2.19497e-28	0.003610	1	0
ACACB	32	broad.mit.edu	37	12	109577742	109577742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:109577742G>T	ENST00000338432.7	+	2	651	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	ACACB_ENST00000377854.5_Missense_Mutation_p.D178Y|ACACB_ENST00000377848.3_Missense_Mutation_p.D178Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	178					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTCCGACGAGGACTCTGTTGC	0.572000													59	20					1.06179e-41	1.92296e-41	0.003610	1	0
ACADM	34	broad.mit.edu	37	1	76211578	76211578	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76211578A>T	ENST00000370841.4	+	8	1124	c.687A>T	c.(685-687)ccA>ccT	p.P229P	ACADM_ENST00000541113.1_Silent_p.P193P|ACADM_ENST00000543667.1_Silent_p.P40P|ACADM_ENST00000420607.2_Silent_p.P233P|ACADM_ENST00000370834.5_Silent_p.P262P	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	229					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CAGATACCCCAGGAATTCAGA	0.328000													50	31					0	0	0.003610	0	0
CHL1	10752	broad.mit.edu	37	3	419519	419519	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:419519T>A	ENST00000256509.2	+	16	2412	c.1770T>A	c.(1768-1770)gcT>gcA	p.A590A	CHL1_ENST00000397491.2_Silent_p.A574A|CHL1-AS1_ENST00000417612.1_RNA	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	574	Ig-like C2-type 6.				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)		TTGATGGAGCTAATTTGACCA	0.338000													42	4					0	0	0.008740	0	0
SV2A	9900	broad.mit.edu	37	1	149878336	149878336	+	Missense_Mutation	SNP	G	G	T	rs149927876		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:149878336G>T	ENST00000369146.3	-	11	2241	c.1751C>A	c.(1750-1752)cCg>cAg	p.P584Q	SV2A_ENST00000369145.1_Missense_Mutation_p.P584Q	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	584					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CACGTCTAGCGGGCAGCCCTC	0.542000													21	26					5.26018e-13	6.79569e-13	0.001882	1	0
KPRP	448834	broad.mit.edu	37	1	152732973	152732973	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152732973C>G	ENST00000368773.1	+	2	967	c.909C>G	c.(907-909)ccC>ccG	p.P303P	KPRP_ENST00000606109.1_Silent_p.P303P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	303	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGAACCCATATATAACA	0.597000													15	47					0	0	0.010504	0	0
GTF2E1	2960	broad.mit.edu	37	3	120500084	120500084	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:120500084G>T	ENST00000283875.5	+	5	1180	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	363					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TGAGTCAGATGATGATTCTCC	0.532000													73	56					4.98926e-31	8.51772e-31	0.003610	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476583	27476583	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27476583G>T	ENST00000356183.4	-	33	5368	c.5353C>A	c.(5353-5355)Cag>Aag	p.Q1785K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1785K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1785						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCTCACCTGGATGCAATCT	0.572000													21	39					3.5997e-14	4.75044e-14	0.002299	1	0
MXRA5	25878	broad.mit.edu	37	X	3242201	3242201	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:3242201G>T	ENST00000217939.6	-	5	1679	c.1525C>A	c.(1525-1527)Cca>Aca	p.P509T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	509	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGATAGATGGACTCTCAGAA	0.532000													58	9					3.07002e-29	5.16488e-29	0.003610	1	0
P2RY14	9934	broad.mit.edu	37	3	150931952	150931952	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:150931952G>T	ENST00000309170.3	-	3	465	c.153C>A	c.(151-153)ccC>ccA	p.P51P	P2RY14_ENST00000424796.2_Silent_p.P51P|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	51						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTAGAGCTGGGCACGTAAA	0.433000													43	39					1.41504e-22	2.1998e-22	0.002852	1	0
MYH1	4619	broad.mit.edu	37	17	10402067	10402067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10402067C>A	ENST00000226207.5	-	30	4151	c.4057G>T	c.(4057-4059)Gag>Tag	p.E1353*	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	1353						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						TCCTGCTCCTCCTCATACTGT	0.552000													86	53					7.7321e-48	1.42395e-47	0.003610	1	0
STK40	83931	broad.mit.edu	37	1	36809008	36809008	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:36809008G>C	ENST00000359297.2	-	9	1053	c.1046C>G	c.(1045-1047)cCt>cGt	p.P349R	STK40_ENST00000373129.3_Missense_Mutation_p.P349R|STK40_ENST00000373130.3_Missense_Mutation_p.P354R|STK40_ENST00000373132.3_Missense_Mutation_p.P349R			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	349						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ATCAATGTCAGGAACCACTTG	0.592000													20	8					0	0	0.001882	0	0
GNAT3	346562	broad.mit.edu	37	7	80091604	80091604	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:80091604G>C	ENST00000398291.3	-	7	838	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	249					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTGTTGAACAGGTGAAGGCTT	0.353000													2	2					0	0	0.004672	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797834	148797834	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:148797834G>C	ENST00000355220.5	+	5	790	c.688G>C	c.(688-690)Gtt>Ctt	p.V230L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.V201L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	230	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AATTGATTTGGTTCATTTATT	0.453000													39	12					0	0	0.007835	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309735	153309735	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153309735C>G	ENST00000368739.3	-	8	1211	c.853G>C	c.(853-855)Ggc>Cgc	p.G285R	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.G289R			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	289					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			ACATTCCAGCCCACCCCTTCA	0.532000													11	25					0	0	0.008291	0	0
GPC4	2239	broad.mit.edu	37	X	132445320	132445320	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:132445320T>A	ENST00000370828.3	-	4	1367	c.843A>T	c.(841-843)caA>caT	p.Q281H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q211H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	281					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGAGATCCCCTTGGTTGGCCA	0.453000													45	3					0	0	0.003610	0	0
IGSF11	152404	broad.mit.edu	37	3	118623538	118623538	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:118623538T>C	ENST00000354673.2	-	8	1188	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	IGSF11_ENST00000393775.2_Missense_Mutation_p.K271E|IGSF11_ENST00000441144.2_Missense_Mutation_p.K246E|IGSF11_ENST00000489689.1_Missense_Mutation_p.K247E|IGSF11_ENST00000491903.1_Missense_Mutation_p.K243E|IGSF11_ENST00000425327.2_Missense_Mutation_p.K270E	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	271					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTTTATTTTTGCTTCTCCAG	0.353000													225	78					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152328422	152328422	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152328422C>A	ENST00000388718.5	-	3	1912	c.1840G>T	c.(1840-1842)Ggt>Tgt	p.G614C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	614	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACCTGATCTAGAC	0.512000													149	213					2.0701e-58	3.90379e-58	0.003610	1	0
RCBTB1	55213	broad.mit.edu	37	13	50108290	50108290	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:50108290T>G	ENST00000378302.2	-	13	1824	c.1564A>C	c.(1564-1566)Aaa>Caa	p.K522Q	RCBTB1_ENST00000258646.3_Missense_Mutation_p.K522Q|RCBTB1_ENST00000471984.1_5'UTR	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	522					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTACTGGCTTTAGCAATGAAT	0.453000													33	81					0	0	0.002445	0	0
UGT2B28	54490	broad.mit.edu	37	4	70155468	70155468	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:70155468T>G	ENST00000335568.5	+	4	1090	c.1088T>G	c.(1087-1089)cTa>cGa	p.L363R	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	363					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATGACCTTCTAGGTAACACT	0.353000													22	42					0	0	0.002299	0	0
MRPS35	60488	broad.mit.edu	37	12	27908112	27908112	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:27908112A>G	ENST00000081029.3	+	8	773		c.e8-1		MRPS35_ENST00000538315.1_Splice_Site	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35						DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTTTTGTTTCAGAATACTGAA	0.308000													12	60					0	0	0.001368	0	0
SULF1	23213	broad.mit.edu	37	8	70536307	70536307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:70536307G>T	ENST00000260128.4	+	15	2442	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SULF1_ENST00000402687.4_Missense_Mutation_p.K575N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.K575N|SULF1_ENST00000458141.2_Missense_Mutation_p.K575N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	575					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACATTGCTAAGCGTCATGATG	0.498000													9	34					2.17888e-05	2.37202e-05	0.006214	1	0
OR56B4	196335	broad.mit.edu	37	11	6129388	6129388	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:6129388A>T	ENST00000316529.3	+	1	475	c.380A>T	c.(379-381)gAc>gTc	p.D127V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCAGTAGACAGATACATA	0.493000													91	21					0	0	0.003610	0	0
AGO2	27161	broad.mit.edu	37	8	141554341	141554341	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:141554341C>T	ENST00000220592.5	-	14	1922	c.1810G>A	c.(1810-1812)Ggg>Agg	p.G604R	AGO2_ENST00000519980.1_Missense_Mutation_p.G604R	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TTCCCATCCCCGGCGGGGGGG	0.642000													8	132					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	132052171	132052171	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:132052171T>A	ENST00000286355.5	-	1	2501	c.409A>T	c.(409-411)Agc>Tgc	p.S137C	ADCY8_ENST00000377928.3_Missense_Mutation_p.S137C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	137					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGAGTTGCTAGGGGCACAG	0.607000										HNSCC(32;0.087)			6	2					0	0	0.001168	0	0
GRM8	2918	broad.mit.edu	37	7	126409993	126409993	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:126409993A>G	ENST00000339582.2	-	7	2091	c.1283T>C	c.(1282-1284)aTt>aCt	p.I428T	GRM8_ENST00000358373.3_Missense_Mutation_p.I428T|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I428T|GRM8_ENST00000405249.1_Missense_Mutation_p.I428T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	428					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)	ACAAAGGCCAATGTATCCAGG	0.408000										HNSCC(24;0.065)			35	33					0	0	0.004289	0	0
SLC38A6	145389	broad.mit.edu	37	14	61512097	61512097	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:61512097T>G	ENST00000354886.2	+	11	942	c.778T>G	c.(778-780)Ttt>Gtt	p.F260V	SLC38A6_ENST00000456840.2_Missense_Mutation_p.F237V|SLC38A6_ENST00000267488.4_Missense_Mutation_p.F260V	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	260					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGCTTTTTCATTTCTCTGCCA	0.313000													4	35					0	0	0.000602	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698332	153698332	+	Missense_Mutation	SNP	G	G	T	rs142245785	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153698332G>T	ENST00000369682.3	+	29	4983	c.4808G>T	c.(4807-4809)cGc>cTc	p.R1603L	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1603					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTGCTCCGCACGGCCAGC	0.622000													28	3					7.76418e-22	1.19754e-21	0.005443	1	0
MYBPC3	4607	broad.mit.edu	37	11	47364673	47364673	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47364673G>A	ENST00000399249.2	-	14	1304	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A416V|MYBPC3_ENST00000545968.1_Missense_Mutation_p.A417V			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	416	Ig-like C2-type 2.				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)		GGTACGCTTGGCACCGATGGA	0.617000													11	0					0	0	0.001855	0	0
FSTL5	56884	broad.mit.edu	37	4	162577485	162577485	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:162577485T>G	ENST00000306100.5	-	7	1325	c.889A>C	c.(889-891)Atc>Ctc	p.I297L	FSTL5_ENST00000536695.1_Missense_Mutation_p.I296L|FSTL5_ENST00000379164.4_Missense_Mutation_p.I296L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.I296L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	297	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTCACATTGATGTCTTCCAAA	0.338000													4	7					0	0	0.009096	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455557	84455557	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:84455557C>G	ENST00000377084.2	-	1	971	c.86G>C	c.(85-87)tGt>tCt	p.C29S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	29	LRRNT.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTGCAGGAACAGATCTTCTC	0.468000													34	49					0	0	0.002836	0	0
ZFR	51663	broad.mit.edu	37	5	32417849	32417849	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:32417849T>C	ENST00000265069.8	-	4	571	c.469A>G	c.(469-471)Agt>Ggt	p.S157G		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	157	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATTGCTTACTATCATAAGCT	0.438000													83	163					0	0	0.003610	0	0
AGXT2	64902	broad.mit.edu	37	5	35003936	35003936	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35003936C>T	ENST00000231420.6	-	13	1569	c.1369G>A	c.(1369-1371)Gta>Ata	p.V457I		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	457					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATCTGATTTACTTCTTCACGG	0.408000											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	181					0	0	0.003610	0	0
VN1R2	317701	broad.mit.edu	37	19	53762072	53762072	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:53762072G>T	ENST00000341702.3	+	1	528	c.444G>T	c.(442-444)atG>atT	p.M148I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	148					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CAGAGACCATGGCAACTTTTG	0.438000													22	48					1.10923e-09	1.33802e-09	0.002780	1	0
FBN2	2201	broad.mit.edu	37	5	127664340	127664340	+	Nonstop_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:127664340A>T	ENST00000508989.1	-	33	4637	c.4420T>A	c.(4420-4422)Taa>Aaa	p.*1474K	FBN2_ENST00000262464.4_Intron|FBN2_ENST00000507835.1_Nonstop_Mutation_p.*357K|FBN2_ENST00000508053.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	0	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTTCATTTACTGTGGTTGA	0.468000													5	6					0	0	0.000602	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981848	61981848	+	Silent	SNP	G	G	T	rs121912258		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61981848G>T	ENST00000370263.4	-	5	1136	c.915C>A	c.(913-915)ctC>ctA	p.L305L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	305					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ACTCGCCGATGAGTGGGATGA	0.592000													46	93					8.00217e-19	1.16909e-18	0.003610	1	0
OR4N4	283694	broad.mit.edu	37	15	22383042	22383042	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:22383042C>A	ENST00000328795.4	+	1	661	c.570C>A	c.(568-570)acC>acA	p.T190T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TGGCTTGCACCGACATGTTTG	0.527000													20	23					7.41877e-09	8.8092e-09	0.001882	1	0
SLC9A5	6553	broad.mit.edu	37	16	67298304	67298304	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:67298304G>C	ENST00000299798.11	+	13	1957	c.1892G>C	c.(1891-1893)cGg>cCg	p.R631P		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	631					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)		GCGCAGGAGCGGCAGGACAAG	0.582000													20	10					0	0	0.008871	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802586	185802586	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:185802586C>A	ENST00000302277.6	+	4	3057	c.2463C>A	c.(2461-2463)ccC>ccA	p.P821P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821						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						GATTCCACCCCGGATTTGAAA	0.388000													11	35					6.40141e-05	6.88493e-05	0.000978	1	0
MED12L	116931	broad.mit.edu	37	3	151105894	151105894	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:151105894C>T	ENST00000474524.1	+	35	5318	c.5280C>T	c.(5278-5280)acC>acT	p.T1760T	MED12L_ENST00000273432.4_Silent_p.T1620T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1760					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)			AGGGAAAAACCACAACAGATG	0.488000													16	13					0	0	0.004007	0	0
ABI3	51225	broad.mit.edu	37	17	47295217	47295217	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:47295217G>T	ENST00000225941.1	+	3	900	c.402G>T	c.(400-402)acG>acT	p.T134T	ABI3_ENST00000419580.2_Silent_p.T128T	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	134					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCTCTCACGCCCTACTGCA	0.632000										HNSCC(55;0.14)			67	13					4.15811e-52	7.75943e-52	0.003610	1	0
TLR4	7099	broad.mit.edu	37	9	120475273	120475273	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:120475273A>G	ENST00000355622.6	+	3	968	c.867A>G	c.(865-867)cgA>cgG	p.R289R	TLR4_ENST00000394487.4_Silent_p.R249R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	289					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						AAGAATTCCGATTAGCATACT	0.363000													26	9					0	0	0.005443	0	0
TBX18	9096	broad.mit.edu	37	6	85446925	85446925	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:85446925C>A	ENST00000369663.5	-	8	1639	c.1302G>T	c.(1300-1302)ttG>ttT	p.L434F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	434					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGTCTCTGCCAAAGATGTGC	0.607000													37	8					3.76114e-14	4.96016e-14	0.004289	1	0
IGLC3	3539	broad.mit.edu	37	22	23248767	23248767	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:23248767G>T	ENST00000390325.2	+	0	256																											AGAAGCTACAGCTGCCAGGTC	0.577000													48	10					2.73218e-42	4.95728e-42	0.003610	1	0
OR8D1	283159	broad.mit.edu	37	11	124180357	124180357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124180357A>T	ENST00000357821.2	-	1	376	c.306T>A	c.(304-306)ttT>ttA	p.F102L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	102			F -> V (in dbSNP:rs2510433).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCACAAAGAAAAAGAGCTGGA	0.448000													15	24					0	0	0.003163	0	0
HR	55806	broad.mit.edu	37	8	21986575	21986575	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:21986575G>T	ENST00000381418.4	-	2	1589	c.109C>A	c.(109-111)Cac>Aac	p.H37N	HR_ENST00000312841.8_Missense_Mutation_p.H37N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	37							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)		GGCCCATGGTGCAGTCCATCT	0.677000													26	12					4.22769e-11	5.29135e-11	0.006320	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84639249	84639249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:84639249G>T	ENST00000286744.5	+	20	2728	c.2504G>T	c.(2503-2505)tGt>tTt	p.C835F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.C835F|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	835	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGTCAGTTGTGGTGTTGGA	0.517000													74	20					2.32478e-39	4.16806e-39	0.003610	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388903	39388903	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39388903T>G	ENST00000411528.2	+	1	189	c.150T>G	c.(148-150)acT>acG	p.T50T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	50	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCACCCAACTTGCTGTCAAA	0.627000													61	17					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11565065	11565065	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:11565065C>G	ENST00000304623.8	-	3	467	c.278G>C	c.(277-279)aGc>aCc	p.S93T	CTNND2_ENST00000503622.1_Missense_Mutation_p.S2T|CTNND2_ENST00000511377.1_Missense_Mutation_p.S2T|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S93T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	93					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						CCTCATGCTGCTCATGCTGCC	0.542000													16	39					0	0	0.004007	0	0
ADAM19	8728	broad.mit.edu	37	5	156964947	156964947	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:156964947G>T	ENST00000257527.4	-	4	382	c.304C>A	c.(304-306)Cct>Act	p.P102T	ADAM19_ENST00000394020.1_Missense_Mutation_p.P104T|ADAM19_ENST00000517905.1_Missense_Mutation_p.P102T|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	102					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)			GTGGTTTGAGGGTTACCACTT	0.443000													20	14					3.62473e-10	4.43223e-10	0.001882	1	0
NCALD	83988	broad.mit.edu	37	8	102701577	102701577	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:102701577C>G	ENST00000395923.1	-	6	1001	c.542G>C	c.(541-543)cGc>cCc	p.R181P	NCALD_ENST00000311028.3_Missense_Mutation_p.R181P|NCALD_ENST00000521599.1_Missense_Mutation_p.R181P|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000519508.2_Missense_Mutation_p.R181P|NCALD_ENST00000220931.6_Missense_Mutation_p.R181P	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	181					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)			CTGCAGGAGGCGCACAATGGA	0.562000													8	33					0	0	0.003080	0	0
AGBL1	123624	broad.mit.edu	37	15	86686992	86686992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:86686992C>A	ENST00000441037.2	+	2	135	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	AGBL1_ENST00000421325.2_Missense_Mutation_p.L14M	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	14					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCAGACCCTGGTAGACAC	0.542000													44	6					1.61863e-15	2.21029e-15	0.003610	1	0
CTNND2	1501	broad.mit.edu	37	5	10973694	10973694	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:10973694G>T	ENST00000304623.8	-	22	3738	c.3549C>A	c.(3547-3549)agC>agA	p.S1183R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S846R|CTNND2_ENST00000511377.1_Missense_Mutation_p.S1092R|CTNND2_ENST00000458100.2_Missense_Mutation_p.S750R|CTNND2_ENST00000359640.2_Missense_Mutation_p.S1125R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1183					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S1183S(1)		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						TGGTGTACTCGCTGGCGGGAG	0.522000													47	64					9.58827e-17	1.34004e-16	0.003610	1	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199333	26199333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:26199333C>A	ENST00000341023.1	-	1	138	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	47					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				ACTGGCGCGCCGGCCCCGACT	0.667000													45	75					4.18559e-23	6.55353e-23	0.003610	1	0
HELZ2	85441	broad.mit.edu	37	20	62193511	62193511	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62193511C>A	ENST00000467148.1	-	10	6512	c.6443G>T	c.(6442-6444)gGa>gTa	p.G2148V	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1579V	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGGCGGCCTCCGGGGATGTT	0.662000													19	33					5.35267e-07	6.04482e-07	0.007413	1	0
OXSR1	9943	broad.mit.edu	37	3	38266060	38266060	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38266060A>G	ENST00000311806.3	+	8	1074		c.e8-1		OXSR1_ENST00000446845.1_Splice_Site	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1						intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAATTCTTGCAGGTTTTAATG	0.343000													41	6					0	0	0.009718	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67968449	67968449	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:67968449A>T	ENST00000377477.2	+	15	2120	c.2008A>T	c.(2008-2010)Aaa>Taa	p.K670*		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AACACAAATTAAATTCAATGC	0.338000													52	45					0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446683	107446683	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:107446683G>T	ENST00000409382.3	-	5	1767	c.1157C>A	c.(1156-1158)cCg>cAg	p.P386Q	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P386Q|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P386Q	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	386					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						GTTGTAATCCGGTTTTTTGTA	0.393000													10	42					1.08611e-07	1.25541e-07	0.000978	1	0
IL18RAP	8807	broad.mit.edu	37	2	103068359	103068359	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:103068359A>G	ENST00000264260.2	+	12	2107	c.1518A>G	c.(1516-1518)acA>acG	p.T506T	IL18RAP_ENST00000409369.1_Silent_p.T364T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGATCAAACACTGAAACTCA	0.413000													13	72					0	0	0.001368	0	0
CPT1C	126129	broad.mit.edu	37	19	50208355	50208355	+	Missense_Mutation	SNP	G	G	T	rs143361095		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:50208355G>T	ENST00000392518.4	+	9	1235	c.863G>T	c.(862-864)cGc>cTc	p.R288L	CPT1C_ENST00000598293.1_Missense_Mutation_p.R288L|CPT1C_ENST00000354199.5_Missense_Mutation_p.R288L|CPT1C_ENST00000405931.2_Missense_Mutation_p.R277L|CPT1C_ENST00000323446.5_Missense_Mutation_p.R288L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	288					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGCCTGAACCGCCAGGAGATA	0.662000													67	11					9.12251e-31	1.55336e-30	0.003610	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30688566	30688566	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:30688566C>A	ENST00000215790.7	-	9	1489	c.1325G>T	c.(1324-1326)aGa>aTa	p.R442I	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R354I|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R449I	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	442						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGCTGCCCTCTCCCCTTCAT	0.647000													88	11					3.90494e-43	7.11141e-43	0.003610	1	0
CCDC173	129881	broad.mit.edu	37	2	170518868	170518868	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:170518868A>T	ENST00000447353.1	-	5	846	c.741T>A	c.(739-741)aaT>aaA	p.N247K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CATATAATGCATTCTGTCGCT	0.313000													34	55					0	0	0.002096	0	0
SARDH	1757	broad.mit.edu	37	9	136529095	136529095	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:136529095C>G	ENST00000371872.4	-	21	2930	c.2673G>C	c.(2671-2673)gaG>gaC	p.E891D	SARDH_ENST00000422262.2_Missense_Mutation_p.E723D|SARDH_ENST00000371868.1_Missense_Mutation_p.E341D|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.E891D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	891					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)		CCCCCATTCTCTCCAGGGCAT	0.572000													33	17					0	0	0.002445	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175593	143175593	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:143175593C>T	ENST00000408916.1	+	1	628	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	210					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)					TCTGAGGAGGCATACTCAGAG	0.463000													36	8					0	0	0.002836	0	0
OTP	23440	broad.mit.edu	37	5	76932818	76932818	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:76932818G>T	ENST00000306422.3	-	2	1413	c.275C>A	c.(274-276)cCc>cAc	p.P92H	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	92						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGCTTGGCTGGGGTTCGGGCC	0.697000													69	25					8.3131e-28	1.38317e-27	0.003610	1	0
SENP7	57337	broad.mit.edu	37	3	101047391	101047391	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:101047391C>A	ENST00000394095.2	-	22	2849		c.e22-1		SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394085.3_Splice_Site	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7						proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATACATGGCCTATGAAAAGC	0.318000													31	97					7.11191e-15	9.5653e-15	0.002836	1	0
GPRASP2	114928	broad.mit.edu	37	X	101972246	101972246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101972246G>T	ENST00000543253.1	+	5	3368	c.2449G>T	c.(2449-2451)Gag>Tag	p.E817*	GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.E817*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E817*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGAGGAGTTAGCTAA	0.378000													36	7					1.60099e-16	2.228e-16	0.004878	1	0
TTLL6	284076	broad.mit.edu	37	17	46868791	46868791	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:46868791G>C	ENST00000393382.3	-	9	1314	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	TTLL6_ENST00000433608.2_Missense_Mutation_p.I84M	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	343	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAAAGCCCAGGATCTCAAAGC	0.542000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	4					0	0	0.005443	0	0
MYH1	4619	broad.mit.edu	37	17	10415180	10415180	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10415180G>T	ENST00000226207.5	-	14	1486	c.1392C>A	c.(1390-1392)gaC>gaA	p.D464E	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	464	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						AGCCAGCAATGTCCAAGACCC	0.463000													109	89					4.58075e-42	8.30366e-42	0.003610	1	0
TNR	7143	broad.mit.edu	37	1	175360441	175360441	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175360441G>C	ENST00000367674.1	-	7	2198	c.1490C>G	c.(1489-1491)tCg>tGg	p.S497W	TNR_ENST00000263525.2_Missense_Mutation_p.S497W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	497	Fibronectin type-III 2.				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)					GACGCTGGCCGAGGTAGGGGG	0.547000													27	41					0	0	0.009535	0	0
CEP19	84984	broad.mit.edu	37	3	196434644	196434644	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:196434644C>A	ENST00000409690.3	-	3	704	c.282G>T	c.(280-282)atG>atT	p.M94I	CEP19_ENST00000399942.4_Missense_Mutation_p.M55I	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	90						centriole|spindle pole				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						GAATTTGTTCCATTGTTTCTG	0.433000													84	69					6.16549e-39	1.10238e-38	0.003610	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141381254	141381254	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:141381254C>T	ENST00000389328.4	-	8	1468	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R387H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R378H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	387					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						GATGCTGTAGCGCTGAATTTT	0.468000													9	14					0	0	0.008291	0	0
ALAS2	212	broad.mit.edu	37	X	55042087	55042087	+	Silent	SNP	C	C	G	rs150494562	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:55042087C>G	ENST00000330807.5	-	8	1229	c.1092G>C	c.(1090-1092)ctG>ctC	p.L364L	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Silent_p.L327L|ALAS2_ENST00000396198.3_Silent_p.L351L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	364					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGACCCATACAGTCCTACAG	0.542000													23	10					0	0	0.001882	0	0
CCDC147	159686	broad.mit.edu	37	10	106207461	106207461	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:106207461G>T	ENST00000369704.3	+	16	2396	c.2262G>T	c.(2260-2262)aaG>aaT	p.K754N		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	754										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAGGAAAAGGAGAAACTCT	0.542000													60	11					1.64573e-32	2.83424e-32	0.003610	1	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849689	98849689	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:98849689G>A	ENST00000554295.1	-	0	1234					NR_033801.1																						TCGACTTCTTGATTCCACCGA	0.468000													26	43					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563668	176563668	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176563668G>T	ENST00000367662.3	+	3	2092	c.928G>T	c.(928-930)Gat>Tat	p.D310Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D310Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	310					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						AGGTGTGTTTGATAACTGCTC	0.507000													6	17					0.00116845	0.0012161	0.001168	1	0
COL6A3	1293	broad.mit.edu	37	2	238283063	238283063	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238283063G>T	ENST00000295550.4	-	8	4123	c.3671C>A	c.(3670-3672)cCg>cAg	p.P1224Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.P1018Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P817Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1018Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1023Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1024Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.P1018Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.P617Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1224	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGGGCTCGGTAGAGGCTG	0.582000													42	63					1.31131e-34	2.29449e-34	0.003214	1	0
TLR1	7096	broad.mit.edu	37	4	38798645	38798645	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:38798645T>A	ENST00000308979.2	-	4	2081	c.1808A>T	c.(1807-1809)tAc>tTc	p.Y603F	TLR1_ENST00000502213.2_Missense_Mutation_p.Y603F	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	603					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CAGATCCAAGTAGCTGCAGAG	0.527000													67	52					0	0	0.003610	0	0
CHSY3	337876	broad.mit.edu	37	5	129520888	129520888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:129520888G>T	ENST00000305031.4	+	3	2411	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	685						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCCCAAAGCAGAAATGACCCT	0.438000													36	2					4.65686e-17	6.54559e-17	0.003755	1	0
ITSN2	50618	broad.mit.edu	37	2	24522911	24522911	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:24522911C>A	ENST00000355123.4	-	12	1654	c.1211G>T	c.(1210-1212)tGg>tTg	p.W404L	ITSN2_ENST00000406921.3_Missense_Mutation_p.W404L|ITSN2_ENST00000361999.3_Missense_Mutation_p.W404L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	404					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCGTTCCCACTCTTCCTT	0.453000													40	143					3.43241e-23	5.38284e-23	0.009718	1	0
CREB1	1385	broad.mit.edu	37	2	208461697	208461697	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208461697G>A	ENST00000432329.2	+	9	1192	c.941G>A	c.(940-942)aGa>aAa	p.R314K	METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|CREB1_ENST00000430624.1_Missense_Mutation_p.R300K|CREB1_ENST00000374397.4_Missense_Mutation_p.R203K|CREB1_ENST00000353267.3_Missense_Mutation_p.R300K	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	314	Leucine-zipper.	Required for binding TORCs.			activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	TTAGAAAACAGAGTGGCAGTG	0.358000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								17	25					0	0	0.007413	0	0
SCARA5	286133	broad.mit.edu	37	8	27737272	27737272	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:27737272C>A	ENST00000354914.3	-	8	1650	c.1165G>T	c.(1165-1167)Gcc>Tcc	p.A389S	SCARA5_ENST00000380385.2_Missense_Mutation_p.A164S	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	389					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATCATCGGGGCCTCCACGCCA	0.662000													13	6					4.3838e-07	4.97067e-07	0.001855	1	0
C1orf173	127254	broad.mit.edu	37	1	75055736	75055736	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:75055736G>A	ENST00000326665.5	-	12	1973	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	C1orf173_ENST00000420661.2_Silent_p.S388S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	585	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						GGTGACTTCTGGATGAGGTTG	0.393000													14	21					0	0	0.001855	0	0
TRPV5	56302	broad.mit.edu	37	7	142625798	142625798	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142625798C>A	ENST00000265310.1	-	6	1098	c.750G>T	c.(748-750)gaG>gaT	p.E250D	TRPV5_ENST00000442623.1_Missense_Mutation_p.E250D	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	250					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGTGTTACCCTCCACTCCAG	0.587000													17	2					1.15088e-07	1.3256e-07	0.004007	1	0
DAAM1	23002	broad.mit.edu	37	14	59797982	59797982	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:59797982C>T	ENST00000395125.1	+	13	1639	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L	DAAM1_ENST00000351081.1_Missense_Mutation_p.P539L|DAAM1_ENST00000360909.3_Missense_Mutation_p.P539L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	539	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCAGGAGGGCCCTTTCCTTCC	0.572000													15	92					0	0	0.006122	0	0
DMXL1	1657	broad.mit.edu	37	5	118513159	118513159	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:118513159C>T	ENST00000311085.8	+	27	6946	c.6866C>T	c.(6865-6867)aCg>aTg	p.T2289M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T2289M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2289								p.T2289M(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTCCCAATACGTCACCAGCT	0.353000													16	2					0	0	0.007413	0	0
MARCH4	57574	broad.mit.edu	37	2	217234468	217234468	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:217234468C>G	ENST00000273067.4	-	1	2282	c.516_splice	c.e1+1	p.Q172_splice		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	172						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGGACTCACCTGTTCTGGCC	0.537000													31	40					0	0	0.004289	0	0
TBX22	50945	broad.mit.edu	37	X	79286084	79286084	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:79286084C>G	ENST00000442340.1	+	9	1167	c.677C>G	c.(676-678)cCt>cGt	p.P226R	TBX22_ENST00000373294.5_Missense_Mutation_p.P346R|TBX22_ENST00000373296.3_Missense_Mutation_p.P346R|TBX22_ENST00000373291.1_Missense_Mutation_p.P226R	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	346					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCTTTTCACCTATGTTTCAT	0.483000													39	7					0	0	0.004878	0	0
XIRP2	129446	broad.mit.edu	37	2	168101926	168101926	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168101926G>T	ENST00000409195.1	+	9	4113	c.4024G>T	c.(4024-4026)Gta>Tta	p.V1342L	XIRP2_ENST00000295237.9_Missense_Mutation_p.V1342L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1120L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1167					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						AAAAGAAGAGGTAATTCATGG	0.378000													7	17					5.18039e-06	5.70598e-06	0.003080	1	0
CSPG4	1464	broad.mit.edu	37	15	75977804	75977804	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:75977804G>T	ENST00000308508.5	-	4	4120	c.4028C>A	c.(4027-4029)cCc>cAc	p.P1343H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1343	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						GCCCTCGAGGGGAGCACCCAG	0.672000													18	5					2.4624e-09	2.95397e-09	0.008871	1	0
ZNF287	57336	broad.mit.edu	37	17	16456737	16456737	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:16456737C>A	ENST00000395824.1	-	6	1336	c.719G>T	c.(718-720)tGg>tTg	p.W240L	ZNF287_ENST00000395825.3_Missense_Mutation_p.W240L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	233					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTAGTTTCCCATTCTGaaat	0.318000													30	7					3.65163e-15	4.952e-15	0.006320	1	0
GNRHR	2798	broad.mit.edu	37	4	68610368	68610368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:68610368G>T	ENST00000226413.4	-	2	684	c.660C>A	c.(658-660)ttC>ttA	p.F220L	RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.H178N|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	220					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAGGGATGATGAAGAGGCAGC	0.428000													24	35					2.52088e-20	3.78132e-20	0.002780	1	0
SLC25A32	81034	broad.mit.edu	37	8	104415469	104415469	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:104415469G>C	ENST00000297578.4	-	4	641	c.475C>G	c.(475-477)Cca>Gca	p.P159A	SLC25A32_ENST00000543107.1_Missense_Mutation_p.P27A	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	159					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGTCGGTGTGGGGAGTTAACA	0.338000													19	93					0	0	0.006122	0	0
STAB2	55576	broad.mit.edu	37	12	104129323	104129323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:104129323G>T	ENST00000388887.2	+	52	5719	c.5515G>T	c.(5515-5517)Gag>Tag	p.E1839*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1839	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCAAGGTTCAGAGCTGAGTGT	0.532000													12	5					1.61879e-10	1.99556e-10	0.001368	1	0
KYNU	8942	broad.mit.edu	37	2	143798057	143798057	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:143798057C>G	ENST00000264170.4	+	13	1360	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V	KYNU_ENST00000409512.1_Missense_Mutation_p.L368V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	368					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)	AACTGGCTATCTGGAATACCT	0.403000													28	22					0	0	0.007291	0	0
FBXL7	23194	broad.mit.edu	37	5	15928422	15928422	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:15928422T>A	ENST00000504595.1	+	3	1032	c.551T>A	c.(550-552)gTg>gAg	p.V184E	FBXL7_ENST00000510662.1_Missense_Mutation_p.V137E|FBXL7_ENST00000329673.7_Missense_Mutation_p.V172E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	184					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCCCCAACGTGTGTCTCATG	0.647000													22	27					0	0	0.001882	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777975	110777975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:110777975C>A	ENST00000368919.3	-	2	365	c.299G>T	c.(298-300)aGg>aTg	p.R100M	SLC22A16_ENST00000456137.2_Missense_Mutation_p.R100M|SLC22A16_ENST00000330550.4_Missense_Mutation_p.R66M|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R100M	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	100					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCTGCTACACCTTGAGAGCTC	0.473000													134	34					1.67419e-43	3.05174e-43	0.003610	1	0
HERC2	8924	broad.mit.edu	37	15	28510997	28510997	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28510997G>A	ENST00000261609.7	-	13	1830	c.1722C>T	c.(1720-1722)acC>acT	p.T574T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	574					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCGGCCCCAGGTGTACAGCT	0.632000													34	59					0	0	0.003755	0	0
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	434					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597000													55	17					2.17126e-26	3.54657e-26	0.003610	1	0
ATP10D	57205	broad.mit.edu	37	4	47517556	47517556	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47517556C>A	ENST00000273859.3	+	3	623	c.354C>A	c.(352-354)ttC>ttA	p.F118L	ATP10D_ENST00000504445.1_Missense_Mutation_p.F118L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	118					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TAGAAGCCTTCCAAAAGGAAA	0.418000													23	73					1.64293e-13	2.14367e-13	0.003330	1	0
LMOD3	56203	broad.mit.edu	37	3	69168080	69168080	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:69168080G>A	ENST00000420581.2	-	2	1605	c.1426C>T	c.(1426-1428)Ccg>Tcg	p.P476S	LMOD3_ENST00000475434.1_Missense_Mutation_p.P476S|LMOD3_ENST00000489031.1_Missense_Mutation_p.P476S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	476						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGTACTTCGGGGCCTGCGAT	0.552000													26	9					0	0	0.003954	0	0
TG	7038	broad.mit.edu	37	8	133975270	133975270	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:133975270G>T	ENST00000220616.4	+	29	5539	c.5499G>T	c.(5497-5499)atG>atT	p.M1833I	TG_ENST00000377869.1_Missense_Mutation_p.M1776I|TG_ENST00000542445.1_Missense_Mutation_p.M203I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1833					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAGTCTATGGGATGTAGAA	0.478000													60	114					9.40535e-28	1.56094e-27	0.003610	1	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110119	37110119	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:37110119G>T	ENST00000430593.3	-	0	541					NR_027320.1																						CACCGTATGTGGGGGATGCCA	0.488000													36	9					3.03874e-20	4.55463e-20	0.003271	1	0
EOGT	285203	broad.mit.edu	37	3	69058943	69058943	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:69058943G>C	ENST00000383701.3	-	4	797	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	EOGT_ENST00000295571.5_Missense_Mutation_p.Q19E|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GCTTCATTCTGACCACTCAGT	0.428000													24	3					0	0	0.004656	0	0
DHRS12	79758	broad.mit.edu	37	13	52351249	52351249	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:52351249T>C	ENST00000218981.1	-	5	421	c.310A>G	c.(310-312)Att>Gtt	p.I104V	DHRS12_ENST00000280056.2_Missense_Mutation_p.I104V|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000444610.2_Missense_Mutation_p.I153V	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	153							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GTCGTGAGAATGTACACACCT	0.572000													29	24					0	0	0.008361	0	0
BATF2	116071	broad.mit.edu	37	11	64756939	64756939	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64756939C>T	ENST00000301887.4	-	3	617	c.487G>A	c.(487-489)Gtt>Att	p.V163I	BATF2_ENST00000435842.2_Missense_Mutation_p.V78I|BATF2_ENST00000527716.1_Missense_Mutation_p.V139I	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	163						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGTTCAGCAACCACAGCGGGG	0.632000													20	8					0	0	0.007413	0	0
COL6A6	131873	broad.mit.edu	37	3	130284285	130284285	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:130284285C>T	ENST00000358511.6	+	3	1140	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A370V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	370	Nonhelical region.|VWFA 2.		A -> T (in dbSNP:rs9830253).		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						ATAGAGGGCGCCAGCGACACC	0.547000													43	85					0	0	0.009718	0	0
OR5B3	441608	broad.mit.edu	37	11	58170323	58170323	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58170323C>A	ENST00000309403.2	-	1	559	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTATCAGAGCAAGAGAGAAC	0.388000													45	19					4.44401e-20	6.64573e-20	0.002522	1	0
TRRAP	8295	broad.mit.edu	37	7	98562303	98562303	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:98562303A>T	ENST00000359863.4	+	47	7069	c.6860A>T	c.(6859-6861)gAc>gTc	p.D2287V	TRRAP_ENST00000446306.3_Missense_Mutation_p.D2268V|TRRAP_ENST00000355540.3_Missense_Mutation_p.D2269V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2287	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTACATAGACAGGCTGATC	0.502000													59	9					0	0	0.003610	0	0
ZIC4	84107	broad.mit.edu	37	3	147108855	147108855	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:147108855C>A	ENST00000383075.3	-	4	1379	c.867G>T	c.(865-867)ggG>ggT	p.G289G	ZIC4_ENST00000484399.1_Silent_p.G289G|ZIC4_ENST00000425731.3_Silent_p.G327G|ZIC4_ENST00000525172.2_Silent_p.G339G|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.G289G|ZIC4_ENST00000491672.1_Silent_p.G83G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGAGCGCCCGTGCACCT	0.662000													14	53					0.000308642	0.000325366	0.003163	1	0
IRS4	8471	broad.mit.edu	37	X	107977509	107977509	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:107977509G>T	ENST00000372129.2	-	1	2142	c.2066C>A	c.(2065-2067)gCc>gAc	p.A689D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	689	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			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						AAAAGCTCTGGCTCTGTGGGG	0.502000													106	17					6.36747e-66	1.21007e-65	0.003610	1	0
PPM1B	5495	broad.mit.edu	37	2	44457644	44457644	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:44457644A>T	ENST00000282412.4	+	6	1639	c.1227A>T	c.(1225-1227)caA>caT	p.Q409H	PPM1B_ENST00000345249.4_Missense_Mutation_p.Q122H|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	409					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTACCGACAACTTCTGGAGG	0.468000													38	36					0	0	0.003755	0	0
COL11A2	1302	broad.mit.edu	37	6	33157167	33157167	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:33157167A>G	ENST00000341947.2	-	2	389	c.162T>C	c.(160-162)tgT>tgC	p.C54C	COL11A2_ENST00000374713.1_Silent_p.C54C|COL11A2_ENST00000395197.1_Silent_p.C54C|COL11A2_ENST00000357486.1_Silent_p.C54C|COL11A2_ENST00000395194.1_Silent_p.C54C|COL11A2_ENST00000374712.1_Silent_p.C54C|COL11A2_ENST00000374714.1_Silent_p.C54C|COL11A2_ENST00000374708.4_Silent_p.C54C|COL11A2_ENST00000361917.1_Silent_p.C54C	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	54	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATCAGCTGGACAGATGCCTT	0.627000													49	21					0	0	0.003610	0	0
PLSCR5	389158	broad.mit.edu	37	3	146318153	146318153	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:146318153T>A	ENST00000443512.1	-	2	1114	c.111A>T	c.(109-111)gcA>gcT	p.A37A	PLSCR5_ENST00000492200.1_Silent_p.A37A|PLSCR5_ENST00000482567.1_Silent_p.A37A	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	37										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCAGCTGCCATGCTTGGTTCC	0.502000													5	11					0	0	0.000602	0	0
GABBR2	9568	broad.mit.edu	37	9	101147957	101147957	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:101147957A>T	ENST00000259455.2	-	11	2086	c.1627T>A	c.(1627-1629)Ttt>Att	p.F543I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	543					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCAGAGACAAAGGATCCATCA	0.428000													30	7					0	0	0.002836	0	0
OR1L8	138881	broad.mit.edu	37	9	125330211	125330211	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:125330211G>T	ENST00000304865.2	-	1	627	c.546C>A	c.(544-546)ctC>ctA	p.L182L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	182					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						GCACAGGGCTGAGGTCACAGA	0.463000													35	8					1.04594e-18	1.52355e-18	0.006230	1	0
FAT2	2196	broad.mit.edu	37	5	150905469	150905469	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:150905469G>A	ENST00000261800.5	-	17	10378	c.10366C>T	c.(10366-10368)Cca>Tca	p.P3456S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3456	Cadherin 31.				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)			CCATTCTCTGGAGAATCTGGG	0.567000													20	18					0	0	0.008871	0	0
COL5A1	1289	broad.mit.edu	37	9	137630602	137630602	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:137630602G>T	ENST00000371817.3	+	11	1856	c.1442G>T	c.(1441-1443)gGa>gTa	p.G481V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	481	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCTTCCCGGACCTCCAGGA	0.562000													73	15					6.44082e-31	1.09768e-30	0.003610	1	0
MAP6	4135	broad.mit.edu	37	11	75298606	75298606	+	Missense_Mutation	SNP	G	G	A	rs140994962	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:75298606G>A	ENST00000304771.3	-	4	2690	c.1940C>T	c.(1939-1941)cCg>cTg	p.P647L	MAP6_ENST00000526740.1_Missense_Mutation_p.P318L|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	647	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.P647Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCATCCTTCGGATGCTCTGG	0.517000													103	68					0	0	0.003610	0	0
UPF1	5976	broad.mit.edu	37	19	18965953	18965953	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:18965953G>T	ENST00000262803.5	+	11	1718	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	UPF1_ENST00000599848.1_Silent_p.V493V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	493					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGAAGACTGTGCTGCAAAGAC	0.672000													32	11					6.00712e-18	8.64762e-18	0.002445	1	0
SHOX	6473	broad.mit.edu	37	X	591819	591819	+	Missense_Mutation	SNP	G	G	T	rs138243769		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:591819G>T	ENST00000381578.1	+	2	878	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	SHOX_ENST00000334060.3_Missense_Mutation_p.G63C|SHOX_ENST00000554971.1_Missense_Mutation_p.G63C|SHOX_ENST00000381575.1_Missense_Mutation_p.G63C	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	63					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACGGAGGGCGGCGGCCACTG	0.582000													52	20					7.05377e-20	1.05164e-19	0.003610	1	0
SOGA2	23255	broad.mit.edu	37	18	8784148	8784148	+	Missense_Mutation	SNP	C	C	A	rs141911404		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:8784148C>A	ENST00000359865.3	+	6	1180	c.1038C>A	c.(1036-1038)agC>agA	p.S346R	SOGA2_ENST00000306329.11_Missense_Mutation_p.S706R|SOGA2_ENST00000400050.3_Missense_Mutation_p.S346R|SOGA2_ENST00000517570.1_Missense_Mutation_p.S346R|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	697																	TGCAGATCAGCGAGCTCAGCG	0.692000													32	49					2.08457e-15	2.84062e-15	0.002096	1	0
UGT3A2	167127	broad.mit.edu	37	5	36035965	36035965	+	Silent	SNP	C	C	A	rs138782726		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:36035965C>A	ENST00000282507.3	-	7	1508	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	UGT3A2_ENST00000545528.1_Silent_p.T167T|UGT3A2_ENST00000513300.1_Silent_p.T435T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						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)			GCTTGAGGTGCGTCGCGCCCC	0.622000													34	50					9.04072e-19	1.31984e-18	0.003271	1	0
ATAD3B	83858	broad.mit.edu	37	1	1430994	1430995	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1430994_1430995delGA	ENST00000308647.7	+	16	1860_1861	c.1744_1745delGA	c.(1744-1746)gfs	p.E582fs		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	582							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCGGGGTCGAGCACCCCCTA	0.649													29	79	---	---	---	---					
USP24	23358	broad.mit.edu	37	1	55567332	55567332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:55567332delC	ENST00000294383.6	-	43	5069	c.5070delG	c.(5068-5070)ggfs	p.G1690fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.G1530fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1690					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATTTCTCAGCCCCACAAACC	0.463													8	32	---	---	---	---					
LRRC7	57554	broad.mit.edu	37	1	70493969	70493970	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:70493969_70493970insAA	ENST00000310961.5	+	19	2229_2230	c.1811_1812insAA	c.(1810-1812)taafs	p.*604fs	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Frame_Shift_Ins_p.*599fs|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	599						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTTGAGAATTCAAATCCAACTG	0.406													31	23	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86904751	86904751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:86904751delG	ENST00000370565.4	+	7	1327	c.1165delG	c.(1165-1167)acfs	p.D389fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	389	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCTAAAACAGACATCAGCAT	0.428													11	41	---	---	---	---					
HENMT1	113802	broad.mit.edu	37	1	109197453	109197453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:109197453delG	ENST00000370032.5	-	5	703	c.283delC	c.(283-285)tgfs	p.L95fs	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Frame_Shift_Del_p.L95fs|HENMT1_ENST00000370031.1_Frame_Shift_Del_p.L95fs	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	95					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAATCCCCCAGGAAAGGAGCT	0.398													11	14	---	---	---	---					
TTF2	8458	broad.mit.edu	37	1	117626641	117626642	+	Splice_Site	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117626641_117626642delCT	ENST00000369466.3	+	11	1949_1950	c.1903_splice	c.e11-1	p.DS635_splice		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	635	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTTCTCAAGACTCTTGTGACTT	0.406													23	34	---	---	---	---					
C1orf61	10485	broad.mit.edu	37	1	156384451	156384451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156384451delG	ENST00000368243.1	-	4	282	c.166delC	c.(166-168)ggfs	p.R56fs	C1orf61_ENST00000476966.1_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	56						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CTCACCGCCCGGGAGCTGTCC	0.562											OREG0006902	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=C1orf61|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	21	23	---	---	---	---					
DARC	2532	broad.mit.edu	37	1	159175850	159175850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159175850delG	ENST00000537147.1	+	3	1464	c.621delG	c.(619-621)cafs	p.Q207fs	DARC_ENST00000368122.2_Frame_Shift_Del_p.Q207fs|DARC_ENST00000368121.2_Frame_Shift_Del_p.Q209fs			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	207					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGGCTTTGCAGGCCACACACA	0.577													17	22	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186062769	186062769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186062769delT	ENST00000271588.4	+	66	10393	c.10164delT	c.(10162-10164)cafs	p.H3388fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.H3388fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3388	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						TCTCCTCCCATATCCGGTTAC	0.433													36	122	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249391	90249391	+	RNA	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:90249391delC	ENST00000468879.1	+	0	528																											TATTATAGTACCCCTCCCACA	0.517													52	96	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96993095	96993095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:96993095delC	ENST00000361124.4	+	1	1161	c.750delC	c.(748-750)gtfs	p.V250fs	ITPRIPL1_ENST00000439118.2_Frame_Shift_Del_p.V242fs|ITPRIPL1_ENST00000536814.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_ENST00000542887.1_Frame_Shift_Del_p.V234fs	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	242						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCCCATTGTCCCCCCACAGG	0.587													15	29	---	---	---	---					
CCDC93	54520	broad.mit.edu	37	2	118704407	118704408	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:118704407_118704408delCT	ENST00000376300.2	-	16	1412_1413	c.1275_1276delAG	c.(1273-1278)agcafs	p.RA425fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.RA424fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	425										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CCACGTGGTGCTCTCTCAGCTT	0.406													15	94	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141298599	141298599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141298599delT	ENST00000389484.3	-	45	8427	c.7456delA	c.(7456-7458)gafs	p.R2486fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2486					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)		CAATTCACTCTCCCATTGGGA	0.403										TSP Lung(27;0.18)			33	39	---	---	---	---					
MYL1	4632	broad.mit.edu	37	2	211163245	211163271	+	In_Frame_Del	DEL	GAATCACCTGTTCTGTCAAACAGGAGA	GAATCACCTGTTCTGTCAAACAGGAGA	-	rs11554011		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:211163245_211163271delGAATCACCTGTTCTGTCAAACAGGAGA	ENST00000352451.3	-	3	324_350	c.177_203delTCTCCTGTTTGACAGAACAGGTGATTC	c.(175-204)ttc>tt	p.FLLFDRTGDS59del	MYL1_ENST00000341685.4_In_Frame_Del_p.FLLFDRTGDS15del|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	59	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGTTCTGTCAAACAGGAGAAATGCCTCCT	0.427													8	31	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219251925	219251927	+	In_Frame_Del	DEL	CTT	CTT	-	rs145226482	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219251925_219251927delCTT	ENST00000233202.6	+	6	883_885	c.543_545delCTT	c.(541-546)acc>ac	p.TF181del	SLC11A1_ENST00000539932.1_In_Frame_Del_p.TF63del	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	181					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGTGGACACCTTCTTCTTCCTC	0.596													9	98	---	---	---	---					
SATB1-AS1	101927777	broad.mit.edu	37	3	18580347	18580348	+	RNA	INS	-	-	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:18580347_18580348insAA	ENST00000595865.1	+	0	364				AC144521.1_ENST00000596152.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000596139.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000599762.1_RNA|AC144521.1_ENST00000456253.2_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000600177.1_RNA																							ATACTGCTCTCAAAGAATATAA	0.426													67	22	---	---	---	---					
TNIK	23043	broad.mit.edu	37	3	170858288	170858289	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:170858288_170858289delCG	ENST00000436636.2	-	13	1575_1576	c.1231_1232delCG	c.(1231-1233)afs	p.R411fs	TNIK_ENST00000460047.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.R411fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.R411fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.R411fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.R411fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCCTTCTCTCGCCTTTGTTGC	0.624													42	173	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													5	11	---	---	---	---					
PPARGC1A	10891	broad.mit.edu	37	4	23815781	23815781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:23815781delT	ENST00000264867.2	-	8	1444	c.1325delA	c.(1324-1326)agfs	p.K442fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	442					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)				AGAGACCTGCTTGCTTGCCTC	0.488													24	61	---	---	---	---					
KCTD8	386617	broad.mit.edu	37	4	44177021	44177021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44177021delG	ENST00000360029.3	-	2	1491	c.1208delC	c.(1207-1209)cafs	p.P404fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	404						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						TTTGTCTGGTGGGGGTATCCA	0.483										HNSCC(17;0.042)			65	220	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66467899	66467899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:66467899delA	ENST00000273854.3	-	3	970	c.370delT	c.(370-372)ccfs	p.S124fs	EPHA5_ENST00000511294.1_Frame_Shift_Del_p.S124fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.S124fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.S124fs	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	124					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGATTCTGGAAGCACCTTCA	0.423										TSP Lung(17;0.13)			34	46	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443707	100443707	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:100443707delG	ENST00000514652.1	+	3	532	c.178delG	c.(178-180)gafs	p.G60fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Del_p.G60fs			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	60										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAATGCATTTGGAACATTGTG	0.428													23	35	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126372442	126372444	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126372442_126372444delCCT	ENST00000394329.3	+	9	10284_10286	c.10271_10273delCCT	c.(10270-10275)att>a	p.TF3424del	FAT4_ENST00000335110.5_In_Frame_Del_p.TF1722del	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3424	Cadherin 33.				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						ACTCATGTGACCTTTGTCAGTGC	0.453													24	66	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													5	7	---	---	---	---					
LIFR	3977	broad.mit.edu	37	5	38502756	38502758	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:38502756_38502758delTGT	ENST00000263409.4	-	11	1743_1745	c.1581_1583delACA	c.(1579-1584)cat>ca	p.QH527del	LIFR_ENST00000453190.2_In_Frame_Del_p.QH527del|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	527	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTTGTTAAATGTTGTTTTTTAT	0.335			T	PLAG1	salivary adenoma								33	75	---	---	---	---					
PCDHB8	56128	broad.mit.edu	37	5	140558334	140558334	+	Frame_Shift_Del	DEL	C	C	-	rs138380475		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140558334delC	ENST00000239444.2	+	1	964	c.719delC	c.(718-720)gcfs	p.A240fs		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		240	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)			AATGATAATGCCCCTGAATTT	0.507													83	237	---	---	---	---					
TAAR9	134860	broad.mit.edu	37	6	132859668	132859668	+	RNA	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:132859668delG	ENST00000434551.1	+	0	240					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CTGACTTCTTGGTGGGAGTCA	0.463													24	57	---	---	---	---					
LATS1	9113	broad.mit.edu	37	6	150005349	150005349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:150005349delT	ENST00000543571.1	-	4	1423	c.876delA	c.(874-876)ccfs	p.P293fs	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P293fs|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P293fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	293					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATGCCCCAGGTGGGACAGGAG	0.507													73	17	---	---	---	---					
DGKB	1607	broad.mit.edu	37	7	14880840	14880840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:14880840delG	ENST00000403951.2	-	2	468	c.49delC	c.(49-51)aafs	p.Q17fs	DGKB_ENST00000258767.5_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000407950.1_Frame_Shift_Del_p.Q17fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	17					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCTGAAGTTGGGAAAATTCC	0.368													16	16	---	---	---	---					
ADCYAP1R1	117	broad.mit.edu	37	7	31117644	31117644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31117644delC	ENST00000304166.4	+	4	485	c.196delC	c.(196-198)ccfs	p.P66fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.P66fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.P66fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	66					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTTGGAAGCCCGCCCATGT	0.587													18	91	---	---	---	---					
CCDC129	223075	broad.mit.edu	37	7	31692358	31692360	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31692358_31692360delCTT	ENST00000319386.3	+	14	3599_3601	c.2606_2608delCTT	c.(2605-2610)cca>c	p.PS869del	CCDC129_ENST00000407970.3_In_Frame_Del_p.PS1017del|CCDC129_ENST00000409210.1_In_Frame_Del_p.PS925del|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1017										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGATGTCTCCTTCATCATCAGC	0.522													22	96	---	---	---	---					
TNS3	64759	broad.mit.edu	37	7	47407966	47407966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:47407966delC	ENST00000398879.1	-	17	2643	c.2277delG	c.(2275-2277)cgfs	p.R759fs	TNS3_ENST00000311160.9_Frame_Shift_Del_p.R759fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.R519fs			Q68CZ2	TENS3_HUMAN	tensin 3	759						focal adhesion	protein binding			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						GCTCACCTTGCCGCCCGGTGG	0.632													55	301	---	---	---	---					
IQUB	154865	broad.mit.edu	37	7	123109440	123109440	+	Splice_Site	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:123109440delT	ENST00000466202.1	-	9	1987		c.e9-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing											breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGCTGAACACttaaaaataat	0.318													21	6	---	---	---	---					
REPIN1	29803	broad.mit.edu	37	7	150069438	150069439	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150069438_150069439insC	ENST00000397281.2	+	4	1597_1598	c.1108_1109insC	c.(1108-1110)cccfs	p.P370fs	REPIN1_ENST00000444957.1_Frame_Shift_Ins_p.P370fs|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000425389.2_Frame_Shift_Ins_p.P370fs|REPIN1_ENST00000540729.1_Frame_Shift_Ins_p.P370fs|REPIN1_ENST00000489432.2_Frame_Shift_Ins_p.P427fs	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	370	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCGATCGAAGCCCCCCCCTCC	0.752													2	4	---	---	---	---					
NBN	4683	broad.mit.edu	37	8	90965709	90965709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:90965709delG	ENST00000265433.3	-	11	1762	c.1608delC	c.(1606-1608)gcfs	p.A536fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.A454fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	536					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GAGATTTACTGGCAGAATTTT	0.348								Homologous recombination					21	46	---	---	---	---					
ESRP1	54845	broad.mit.edu	37	8	95653626	95653628	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:95653626_95653628delAGA	ENST00000433389.2	+	1	270_272	c.80_82delAGA	c.(79-84)gag>g	p.EK27del	ESRP1_ENST00000423620.2_In_Frame_Del_p.EK27del|ESRP1_ENST00000358397.5_In_Frame_Del_p.EK27del|ESRP1_ENST00000454170.2_In_Frame_Del_p.EK27del	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	27					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGCTCGGATGAGAAGGAGTTGAT	0.532													20	46	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144945106	144945106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144945106delC	ENST00000525985.1	-	2	2387	c.2316delG	c.(2314-2316)acfs	p.T772fs				P58107	EPIPL_HUMAN	epiplakin 1	772						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)			GGTTCTCGTGCGTGTTGGGGT	0.627													34	56	---	---	---	---					
ZNF251	90987	broad.mit.edu	37	8	145947348	145947358	+	Frame_Shift_Del	DEL	AAGGATTTCTC	AAGGATTTCTC	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:145947348_145947358delAAGGATTTCTC	ENST00000292562.7	-	5	1962_1972	c.1687_1697delGAGAAATCCTT	c.(1687-1698)tfs	p.EKSF563fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATTACATCCAAAGGATTTCTCACCAGTGTGA	0.469													27	46	---	---	---	---					
PTPRD	5789	broad.mit.edu	37	9	8528692	8528692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:8528692delC	ENST00000381196.4	-	12	983	c.440delG	c.(439-441)ttfs	p.C147fs	PTPRD_ENST00000397611.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000463477.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.C147fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	147	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTGGCTGCACAAAGCATGGT	0.473										TSP Lung(15;0.13)			40	16	---	---	---	---					
RECK	8434	broad.mit.edu	37	9	36087832	36087833	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:36087832_36087833delTT	ENST00000377966.3	+	9	1345_1346	c.779_780delTT	c.(778-780)cfs	p.L260fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	260	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGATCCTCTTTGGCAATGTT	0.475													15	46	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37440624	37440625	+	Frame_Shift_Ins	INS	-	-	CTTA	rs11558453		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:37440624_37440625insCTTA	ENST00000307750.4	-	2	2112_2113	c.1924_1925insTAAG	c.(1924-1926)ctgfs	p.L642fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTTCAGGCAGGCGTAAGGCTTT	0.505													27	50	---	---	---	---					
ZNF484	83744	broad.mit.edu	37	9	95608548	95608548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:95608548delC	ENST00000395505.2	-	3	2505	c.2413delG	c.(2413-2415)acfs	p.D805fs	ZNF484_ENST00000395506.3_Frame_Shift_Del_p.D843fs|ZNF484_ENST00000375495.3_Frame_Shift_Del_p.D841fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.D805fs|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCTTCTGAGTCCCCACACCAT	0.438													88	24	---	---	---	---					
APBB1IP	54518	broad.mit.edu	37	10	26825135	26825135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:26825135delG	ENST00000376236.4	+	10	1488	c.1033delG	c.(1033-1035)gafs	p.G345fs		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGTACCCAAAGGAAAGACTAA	0.328													70	78	---	---	---	---					
RBP3	5949	broad.mit.edu	37	10	48388734	48388734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48388734delG	ENST00000224600.4	-	1	2257	c.2144delC	c.(2143-2145)cafs	p.P718fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	718	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGGGGTGGTGGGGGTGCTTC	0.627													11	57	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tcc>tc	p.SF2del	SLK_ENST00000335753.4_In_Frame_Del_p.SF2del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	2					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													65	15	---	---	---	---					
HABP2	3026	broad.mit.edu	37	10	115312947	115312948	+	Splice_Site	DEL	GG	GG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:115312947_115312948delGG	ENST00000351270.3	+	1	163_164	c.69_splice	c.e1+1	p.G23_splice	HABP2_ENST00000541666.1_Splice_Site_p.G23_splice|HABP2_ENST00000537906.1_5'UTR|HABP2_ENST00000542051.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	23					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GACAGCCTGTGGGGTAAGTGTT	0.441													34	18	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396279	118396279	+	RNA	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118396279delT	ENST00000537242.1	+	0	962				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)		CAAATTATGGTTTTTTTTTTC	0.423													6	3	---	---	---	---					
OR8K1	390157	broad.mit.edu	37	11	56113743	56113743	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56113743delC	ENST00000279783.2	+	1	323	c.229delC	c.(229-231)ttfs	p.L77fs		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AATCACTGATCTTGGTTACTC	0.418										HNSCC(65;0.19)			34	92	---	---	---	---					
LTBP3	4054	broad.mit.edu	37	11	65308712	65308713	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65308712_65308713delTG	ENST00000301873.5	-	20	3045_3046	c.2777_2778delCA	c.(2776-2778)afs	p.T926fs	LTBP3_ENST00000536982.1_Frame_Shift_Del_p.T552fs|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.T356fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.T926fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	926	TB 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCAGAACACTGTGTCATCGAA	0.634											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	86	---	---	---	---					
C11orf80	79703	broad.mit.edu	37	11	66583618	66583619	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:66583618_66583619delTC	ENST00000360962.4	+	11	1291_1292	c.1284_1285delTC	c.(1282-1287)tttcfs	p.FL428fs	C11orf80_ENST00000527634.1_Frame_Shift_Del_p.FL211fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.FL263fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.FL274fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.FL273fs|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.FL210fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	273										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGCTGCTTTTTCTCTTTGTGGA	0.465													13	12	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71717101	71717107	+	Frame_Shift_Del	DEL	ACCCCGG	ACCCCGG	-	rs61745941	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:71717101_71717107delACCCCGG	ENST00000393695.3	-	22	5997_6003	c.5666_5672delCCGGGGT	c.(5665-5673)ggfs	p.AGV1889fs	NUMA1_ENST00000351960.6_Frame_Shift_Del_p.AGV753fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.AGV1875fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1889					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCACTGGACACCCCGGCCTGGGAACG	0.589			T	RARA	APL								45	68	---	---	---	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)del	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	163	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113102898	113102899	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:113102898_113102899insA	ENST00000316851.7	+	10	1217_1218	c.1217_1218insA	c.(1216-1218)caafs	p.Q406fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.Q415fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.Q288fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	416	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.P415Q(4)|p.P406Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGATGCCCCAAAGCTACAGG	0.525													18	12	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39716860	39716860	+	Frame_Shift_Del	DEL	A	A	-	rs141053276		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:39716860delA	ENST00000553728.1	+	4	1295	c.1082delA	c.(1081-1083)gafs	p.E361fs	MIA2_ENST00000556784.1_Frame_Shift_Del_p.E360fs|MIA2_ENST00000280082.3_Frame_Shift_Del_p.E361fs																							ATATTAACAGAAAAAAAAGAC	0.348													52	32	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101515166	101515166	+	RNA	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:101515166delC	ENST00000553692.1	+	0	28																											TCGCCTGTCTCCCCACATGCC	0.512													32	48	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25327820	25327820	+	RNA	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25327820delG	ENST00000546682.1	+	0	156				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GGGAGTCCTAGGACATGTGTG	0.507													13	14	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25472145	25472146	+	RNA	DEL	GC	GC	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:25472145_25472146delGC	ENST00000453082.2	+	0	1187_1188					NR_003343.1																						AGCCCCCAGTGCGCTGAAGCTC	0.624													31	32	---	---	---	---					
SPPL2A	84888	broad.mit.edu	37	15	51040893	51040894	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:51040893_51040894delTG	ENST00000261854.5	-	3	625_626	c.351_352delCA	c.(349-354)aagtfs	p.NS117fs	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	117	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ACTAGGACACTGTTATTGACAA	0.371													69	22	---	---	---	---					
USP3	9960	broad.mit.edu	37	15	63862705	63862705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:63862705delG	ENST00000268049.7	+	10	1093	c.769delG	c.(769-771)gtfs	p.G257fs	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Frame_Shift_Del_p.G262fs|USP3_ENST00000539772.1_Frame_Shift_Del_p.G30fs|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Frame_Shift_Del_p.G279fs|USP3_ENST00000540797.1_Frame_Shift_Del_p.G235fs|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Frame_Shift_Del_p.G190fs			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	279					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ACTTCAGGGCGGTTTCAACGG	0.443													31	52	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631962	90631964	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:90631962_90631964delTCT	ENST00000330062.3	-	4	502_504	c.389_391delAGA	c.(388-393)atg>a	p.KM130del	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Start_Codon_Del|IDH2_ENST00000540499.2_In_Frame_Del_p.KM78del	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	130					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTTTCCACATCTTCTTCAGCTT	0.522			M		GBM								15	56	---	---	---	---					
CLDN6	9074	broad.mit.edu	37	16	3065398	3065399	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3065398_3065399delGA	ENST00000396925.1	-	3	1052_1053	c.624_625delTC	c.(622-627)tcggfs	p.SR208fs	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.SR208fs			P56747	CLD6_HUMAN	claudin 6	208					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGGGCCCCCGAGAGATGGCAG	0.644													24	81	---	---	---	---					
CCDC64B	146439	broad.mit.edu	37	16	3080710	3080711	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3080710_3080711delCT	ENST00000572449.1	-	4	663_664	c.601_602delAG	c.(601-603)tfs	p.S201fs	CCDC64B_ENST00000573514.1_5'UTR|CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.S201fs			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	201										breast(1)|endometrium(2)|large_intestine(1)	4						CCCCTGCAGACTCTCCAGCCGC	0.644													5	8	---	---	---	---					
COQ7	10229	broad.mit.edu	37	16	19079004	19079004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:19079004delG	ENST00000321998.5	+	1	84	c.18delG	c.(16-18)gcfs	p.A9fs	COQ7_ENST00000568985.1_Frame_Shift_Del_p.A9fs|RP11-626G11.5_ENST00000567047.1_RNA	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	9	Poly-Ala.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						gcgccggggcggcggcggctc	0.652													8	12	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	65015995	65015995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:65015995delC	ENST00000394156.3	-	8	1662	c.1209delG	c.(1207-1209)ggfs	p.G403fs	CDH11_ENST00000268603.4_Frame_Shift_Del_p.G403fs|CDH11_ENST00000566827.1_Frame_Shift_Del_p.G277fs			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	403	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CATGCACTCTCCCAACCACGG	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			27	27	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71319263	71319263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:71319263delA	ENST00000338099.5	-	3	897	c.561delT	c.(559-561)atfs	p.I187fs	FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.I187fs			Q8IYT2	FTSJ1_HUMAN		187						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCATCCATAATCATCATGA	0.428													29	8	---	---	---	---					
RP11-281J9.2	0	broad.mit.edu	37	16	78082513	78082513	+	RNA	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:78082513delC	ENST00000563114.1	-	0	41																											GCTTGTGAGGCCCCCCTAGGC	0.592													3	3	---	---	---	---					
KCNJ2	3759	broad.mit.edu	37	17	68171564	68171564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:68171564delC	ENST00000243457.3	+	2	767	c.384delC	c.(382-384)agfs	p.S128fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.S128fs	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	128					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGGTCAACAGCTTCACGGCTG	0.502													60	76	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71394500	71394510	+	Frame_Shift_Del	DEL	GCGGGCATCGG	GCGGGCATCGG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:71394500_71394510delGCGGGCATCGG	ENST00000392650.3	-	23	3152_3162	c.3152_3162delCCGATGCCCGC	c.(3151-3162)cfs	p.PDAR1051fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.PDAR1051fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1051	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1054S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTCCATGGAGCGGGCATCGGGCTCATTGGA	0.640													9	71	---	---	---	---					
AQP4	361	broad.mit.edu	37	18	24441125	24441125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:24441125delT	ENST00000383168.4	-	3	710	c.582delA	c.(580-582)ggfs	p.G194fs	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Frame_Shift_Del_p.G172fs|AQP4_ENST00000581374.1_Frame_Shift_Del_p.G172fs|AQP4_ENST00000583022.1_5'UTR	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	194					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAACAGAAAATCCAATTGCTA	0.383													68	11	---	---	---	---					
DSEL	92126	broad.mit.edu	37	18	65179594	65179594	+	Frame_Shift_Del	DEL	C	C	-	rs149331251		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:65179594delC	ENST00000310045.7	-	2	3755	c.2282delG	c.(2281-2283)gcfs	p.G761fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	751						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGCTTGAGTGCCCAAACCAAA	0.383													25	3	---	---	---	---					
ZNF562	54811	broad.mit.edu	37	19	9764212	9764213	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9764212_9764213delAG	ENST00000448622.1	-	6	855_856	c.693_694delCT	c.(691-696)ctgtfs	p.LC231fs	ZNF562_ENST00000293648.4_Frame_Shift_Del_p.LC159fs|ZNF562_ENST00000541032.1_Frame_Shift_Del_p.LC194fs|ZNF562_ENST00000453792.2_Frame_Shift_Del_p.LC162fs|ZNF562_ENST00000590155.1_Frame_Shift_Del_p.LC230fs|ZNF562_ENST00000537617.1_Frame_Shift_Del_p.LC115fs|ZNF562_ENST00000453372.2_Frame_Shift_Del_p.LC231fs	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAATTCACAGAGTTTCTCTC	0.396													40	12	---	---	---	---					
PBX4	80714	broad.mit.edu	37	19	19672896	19672896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:19672896delG	ENST00000251203.8	-	8	1349	c.1063delC	c.(1063-1065)aafs	p.Q355fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	355							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTTGCAGGTTGGGGGGTGGCC	0.597													8	7	---	---	---	---					
PSG2	5670	broad.mit.edu	37	19	43576090	43576090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:43576090delG	ENST00000406487.1	-	4	824	c.726delC	c.(724-726)ccfs	p.P242fs		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAATTCTGGGGAGGTCTG	0.493													125	37	---	---	---	---					
ADRM1	11047	broad.mit.edu	37	20	60881371	60881372	+	In_Frame_Ins	INS	-	-	AGGCGG			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:60881371_60881372insAGGCGG	ENST00000253003.2	+	4	495_496	c.449_450insAGGCGG	c.(448-450)cgg>cAGGCGGgg	p.150_150R>QAG	ADRM1_ENST00000462554.1_3'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	150	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCTCTGCGCTAGGCGGTAACT	0.599													15	191	---	---	---	---					
BCL2L13	23786	broad.mit.edu	37	22	18210074	18210076	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:18210074_18210076delAGA	ENST00000317582.5	+	7	1579_1581	c.1232_1234delAGA	c.(1231-1236)gag>g	p.EK411del	BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000538149.1_In_Frame_Del_p.EK287del|BCL2L13_ENST00000337612.5_In_Frame_Del_p.EK249del|BCL2L13_ENST00000543133.1_In_Frame_Del_p.EK249del|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000485631.1_3'UTR	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	411	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCTGAGTGAGAAGGAGATAAA	0.557													28	99	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													7	15	---	---	---	---					
POM121L9P	29774	broad.mit.edu	37	22	24657356	24657356	+	RNA	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:24657356delG	ENST00000414583.2	+	0	2077					NR_003714.1																						CTTTCCAGGCGGTCTAGAAGG	0.607													42	5	---	---	---	---					
LRP5L	91355	broad.mit.edu	37	22	25753294	25753294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:25753294delC	ENST00000444995.3	-	5	1066	c.366delG	c.(364-366)tgfs	p.W122fs	LRP5L_ENST00000402859.2_Frame_Shift_Del_p.W122fs|LRP5L_ENST00000402785.2_Frame_Shift_Del_p.W122fs			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	122										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGCCGTTGGGCCACCCGAGGG	0.597													106	15	---	---	---	---					
SHANK3	85358	broad.mit.edu	37	22	51160242	51160242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:51160242delC	ENST00000414786.2	+	21	4166	c.3939delC	c.(3937-3939)ggfs	p.G1313fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.G1329fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.G1343fs			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1343										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGGCCCGGGCCCCTCGCCCA	0.701													2	4	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38016264	38016264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:38016264delC	ENST00000378533.3	-	8	1080	c.974delG	c.(973-975)gtfs	p.G325fs	SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Frame_Shift_Del_p.G312fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Frame_Shift_Del_p.G266fs|SRPX_ENST00000544439.1_Frame_Shift_Del_p.G305fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.G325fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	325					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CGTTCTGACACCCACATTGAC	0.498													30	17	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													7	62	---	---	---	---					
TGIF2LX	90316	broad.mit.edu	37	X	89177718	89177718	+	Frame_Shift_Del	DEL	G	G	-	rs149582592	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:89177718delG	ENST00000561129.2	+	1	764	c.634delG	c.(634-636)ccfs	p.A212fs	TGIF2LX_ENST00000283891.5_Frame_Shift_Del_p.A212fs			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAGGAGCACGCCGACTTCAG	0.532													10	7	---	---	---	---					
