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
PAFAH2	5051	broad.mit.edu	37	1	26314754	26314754	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:26314754C>G	uc001bld.4	-	3	489	c.309G>C	c.(307-309)ttG>ttC	p.L103F	PAFAH2_uc001ble.4_Missense_Mutation_p.L103F	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	103					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGATGATCAAGGGGTATC	0.517												
PAFAH2	5051	broad.mit.edu	37	1	26315958	26315958	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:26315958C>T	uc001bld.4	-	2	405	c.225G>A	c.(223-225)ttG>ttA	p.L75L	PAFAH2_uc001ble.4_Silent_p.L75L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	75					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTGAACAGCAAGCCCCCGC	0.592												
HEATR1	55127	broad.mit.edu	37	1	236720633	236720633	+	Silent	SNP	C	C	T	rs138638506	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:236720633C>T	uc001hyd.2	-	36	5369	c.5217G>A	c.(5215-5217)tcG>tcA	p.S1739S	HEATR1_uc009xgh.2_Silent_p.S901S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1739					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGTCAGCAACGATGGCATCA	0.498												
RYR2	6262	broad.mit.edu	37	1	237540686	237540686	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr1:237540686G>A	uc001hyl.1	+	7	647	c.527G>A	c.(526-528)cGa>cAa	p.R176Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	176	MIR 2.		R -> Q (in ARVD2 and CPVT1).		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)			GAAAAAGTACGAGTTGGAGAT	0.438												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
CHAT	1103	broad.mit.edu	37	10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:50835688G>A	uc001jhz.2	+	6	1121	c.968G>A	c.(967-969)cGt>cAt	p.R323H	CHAT_uc001jhv.1_Missense_Mutation_p.R205H|CHAT_uc001jhx.1_Missense_Mutation_p.R205H|CHAT_uc001jhy.1_Missense_Mutation_p.R205H|CHAT_uc001jia.2_Missense_Mutation_p.R241H|CHAT_uc010qgs.1_Missense_Mutation_p.R205H	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(4)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AATTTCCGCCGTCTCAGTGAG	0.512												
TYSND1	219743	broad.mit.edu	37	10	71905207	71905207	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:71905207G>A	uc001jqr.3	-	0	1290	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.A379V|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	379	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGGACCCTGGCTGCTTCCCG	0.647												
KIAA0913	23053	broad.mit.edu	37	10	75560906	75560906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:75560906C>T	uc001jvj.3	+	24	5426	c.5171C>T	c.(5170-5172)cCc>cTc	p.P1724L	KIAA0913_uc001jve.3_Missense_Mutation_p.P1760S|KIAA0913_uc009xrl.3_Missense_Mutation_p.P1755S|KIAA0913_uc001jvf.3_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.P1182S|KIAA0913_uc010qkr.2_Missense_Mutation_p.P1170S	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	0							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CCTGCGTGCCCCGGCCTTCCA	0.622												
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:89720799_89720802delTACT	uc001kfb.3	+	7	1982_1985	c.950_953delTACT	c.(949-954)gtacttfs	p.V317fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	317	C2 tensin-type.				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.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(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)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	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)		
CNNM2	54805	broad.mit.edu	37	10	104678301	104678301	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr10:104678301C>G	uc001kwm.3	+	0	227	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CNNM2_uc001kwn.3_Missense_Mutation_p.L22V|CNNM2_uc001kwl.3_Missense_Mutation_p.L22V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	22					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGCCGCCGCACTGCCCACTTG	0.687												
OR51F1	256892	broad.mit.edu	37	11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:4790251T>A	uc010qyl.2	-	0	897	c.897A>T	c.(895-897)aaA>aaT	p.K299N		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	299						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438												
TEAD1	7003	broad.mit.edu	37	11	12901370	12901370	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:12901370C>T	uc021qdx.1	+	5	1066	c.446C>T	c.(445-447)aCc>aTc	p.T149I	TEAD1_uc001mkk.4_Missense_Mutation_p.T53I|TEAD1_uc009ygl.3_Missense_Mutation_p.T28I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	149	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACGCCCGACCTTCCCAGGG	0.612												
OR5W2	390148	broad.mit.edu	37	11	55681774	55681774	+	Silent	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:55681774A>G	uc010rir.2	-	0	285	c.285T>C	c.(283-285)taT>taC	p.Y95Y		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y95*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCACAGCCATAGAAGGGTA	0.463												
OR5M3	219482	broad.mit.edu	37	11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	rs142752109		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:56237921C>T	uc010rjk.2	-	0	94	c.53G>A	c.(52-54)cGt>cAt	p.R18H	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R18H(2)|p.S17S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398												
CD248	57124	broad.mit.edu	37	11	66084085	66084085	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr11:66084085G>A	uc001ohm.1	-	0	431	c.414C>T	c.(412-414)ggC>ggT	p.G138G		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	138	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGCGGTGCTCGCCACTTGCCT	0.706												
C1S	716	broad.mit.edu	37	12	7177424	7177424	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:7177424G>A	uc001qsj.3	+	14	2255	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	C1S_uc001qsk.3_Silent_p.P512P|C1S_uc001qsl.3_Silent_p.P512P|C1S_uc009zfr.3_Silent_p.P345P|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	512	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P512L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTATTCATCCGGGATGGAAGC	0.507												
A2M	2	broad.mit.edu	37	12	9254170	9254170	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:9254170T>C	uc001qvk.1	-	11	1480	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	A2M_uc009zgk.1_Missense_Mutation_p.K306R	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	456					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GACAAAGCTCTTGCTTGGGGA	0.507												
KRT74	121391	broad.mit.edu	37	12	52964563	52964563	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr12:52964563C>T	uc001sap.1	-	4	946	c.898G>A	c.(898-900)Gac>Aac	p.D300N		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	300	Linker 12.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGTTGTTGTCCATGGACAGG	0.572												
FLT3	2322	broad.mit.edu	37	13	28644701	28644701	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr13:28644701G>A	uc001urw.3	-	1	174	c.92C>T	c.(91-93)cCt>cTt	p.P31L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P31L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	31					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P31L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGATCACAGGCAGATCTTG	0.299			"""Mis, O"""		"""AML, ALL"""							
C14orf183	196913	broad.mit.edu	37	14	50550652	50550652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:50550652C>T	uc010tqk.2	-	4	692	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	Homo sapiens chromosome 14 open reading frame 183 (C14orf183), mRNA.	231										endometrium(2)|large_intestine(2)|lung(3)	7						CTCTTGGAGGCGAGGTGGGGC	0.662												
GPR65	8477	broad.mit.edu	37	14	88478002	88478002	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:88478002A>T	uc021rxh.1	+	0	811	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	GPR65_uc001xvv.3_Missense_Mutation_p.M271L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	271					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AACTTACACAATGTATAGAAT	0.383												
SERPINA1	5265	broad.mit.edu	37	14	94845837	94845837	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:94845837G>A	uc001ycy.4	-	5	1583	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S343S|SERPINA1_uc010auy.3_Silent_p.S343S|SERPINA1_uc001ycz.4_Silent_p.S343S|SERPINA1_uc010auz.3_Silent_p.S343S|SERPINA1_uc010ava.3_Silent_p.S343S|SERPINA1_uc001ydb.4_Silent_p.S343S|SERPINA1_uc010avb.3_Silent_p.S343S|SERPINA1_uc001ydc.4_Silent_p.S343S|SERPINA1_uc010auw.3_Silent_p.S343S|SERPINA1_uc010aux.3_Silent_p.S343S|SERPINA1_uc001yda.1_Silent_p.S343S	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	343					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CTGTGACCCCGGAGAGGTCAG	0.542												
TCL1B	9623	broad.mit.edu	37	14	96152931	96152931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:96152931C>T	uc001yfa.3	+	0	178	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.R43C	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	43								p.S42S(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CAATCCCTCGCGTAGGGAATG	0.672												
AHNAK2	113146	broad.mit.edu	37	14	105420774	105420774	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:105420774C>T	uc010axc.1	-	6	1134	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.S238S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	338						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGTCCTGTCGATGAAGGGC	0.667												
GPR132	29933	broad.mit.edu	37	14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr14:105517549C>T	uc001yqd.3	-	3	1824	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	GPR132_uc001yqc.3_Missense_Mutation_p.V121M|GPR132_uc001yqe.3_Missense_Mutation_p.V300M	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	309					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577												
MYH11	4629	broad.mit.edu	37	16	15835524	15835524	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:15835524C>T	uc002ddx.3	-	22	2783	c.2676G>A	c.(2674-2676)ctG>ctA	p.L892L	MYH11_uc002ddv.3_Silent_p.L892L|MYH11_uc002ddw.3_Silent_p.L885L|MYH11_uc002ddy.3_Silent_p.L885L|MYH11_uc010bvg.3_Silent_p.L717L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	885					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			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						TCTCCTCGGTCAGCTGCACGC	0.637			T	CBFB	AML							
NDRG4	65009	broad.mit.edu	37	16	58538057	58538057	+	Splice_Site	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:58538057G>C	uc002enm.3	+	5	625	c.284_splice	c.e5-1	p.H95_splice	NDRG4_uc002enk.3_Splice_Site_p.H75_splice|NDRG4_uc010vif.2_Splice_Site_p.H75_splice|NDRG4_uc002eno.3_Splice_Site_p.H43_splice|NDRG4_uc010cdk.3_Splice_Site_p.D61_splice|NDRG4_uc010vig.2_Splice_Site_p.H73_splice|NDRG4_uc010vih.2_Splice_Site|NDRG4_uc010vii.2_Splice_Site_p.H61_splice|NDRG4_uc002enp.3_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	43					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGTCTTTGCAGACAAACTATG	0.577												
CNOT1	23019	broad.mit.edu	37	16	58559906	58559906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:58559906C>T	uc002env.3	-	44	6883	c.6590G>A	c.(6589-6591)cGc>cAc	p.R2197H	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.R2192H|CNOT1_uc002ent.3_Missense_Mutation_p.R135H|CNOT1_uc010vik.2_Missense_Mutation_p.R1154H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2197					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R2197H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTTGCTGCGCAGATCAGA	0.413												
CDYL2	124359	broad.mit.edu	37	16	80646527	80646527	+	Missense_Mutation	SNP	G	G	A	rs145890469		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr16:80646527G>A	uc002ffs.3	-	4	1319	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	405						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTACCAGCGCGACGCCCAG	0.622												
GNGT2	2793	broad.mit.edu	37	17	47284767	47284767	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr17:47284767G>A	uc002ioo.2	-	2	325	c.18C>T	c.(16-18)agC>agT	p.S6S	GNGT2_uc021tzo.1_Silent_p.S6S|GNGT2_uc021tzp.1_Silent_p.S6S|GNGT2_uc021tzq.1_Silent_p.S6S|ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	6					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.L5I(1)		endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGTCCTTCTCGCTGAGATCCT	0.537												
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr17:76082938C>T	uc002jud.2	+	13	4166	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1189					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A1189V(2)|p.A1189A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592												
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:44561319T>C	uc002lcr.1	-	0	670	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	106					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q106R(2)|p.D105E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTTTTCCTGGTCCTGAAG	0.652												
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821	byFrequency	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:44561321G>C	uc002lcr.1	-	0	668	c.315C>G	c.(313-315)gaC>gaG	p.D105E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	105					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.D105E(2)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTTTCCTGGTCCTGAAGAG	0.662												
NFATC1	4772	broad.mit.edu	37	18	77227543	77227543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr18:77227543C>T	uc010xfg.2	+	7	2506	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	NFATC1_uc002lnc.1_Nonsense_Mutation_p.R685*|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.3_Nonsense_Mutation_p.R685*|NFATC1_uc002lne.3_Nonsense_Mutation_p.R213*|NFATC1_uc010xfh.2_Nonsense_Mutation_p.R685*|NFATC1_uc010xfi.1_Nonsense_Mutation_p.R672*|NFATC1_uc010xfj.2_Nonsense_Mutation_p.R213*|NFATC1_uc002lnf.3_Nonsense_Mutation_p.R672*|NFATC1_uc002lng.3_Nonsense_Mutation_p.R672*|NFATC1_uc010xfk.2_Nonsense_Mutation_p.R672*	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	685					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GAAGAGAAAGCGAAGCCAGTA	0.522												
MUC16	94025	broad.mit.edu	37	19	9087317	9087317	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:9087317A>G	uc002mkp.3	-	0	4702	c.4498T>C	c.(4498-4500)Tca>Cca	p.S1500P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1500	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1500*(1)		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						TCTGACTTTGAAAGTTCATGA	0.428												
ZNF653	115950	broad.mit.edu	37	19	11598332	11598332	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:11598332C>T	uc002mrz.2	-	3	1083	c.946G>A	c.(946-948)Ggc>Agc	p.G316S		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ACCTGTGAGCCGGGCACCATG	0.672												
ZNF829	374899	broad.mit.edu	37	19	37383097	37383097	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:37383097A>G	uc021utr.1	-	5	906	c.839T>C	c.(838-840)gTt>gCt	p.V280A	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.V199A	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTCGAGTAACGAGTGAGCC	0.373												
MARK4	57787	broad.mit.edu	37	19	45781188	45781188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:45781188G>A	uc002pbb.2	+	8	1125	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	265	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGAGCTGCGGGAGCGAGTA	0.567												
SLC8A2	6543	broad.mit.edu	37	19	47960816	47960816	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:47960816C>T	uc010ele.3	-	1	727	c.711G>A	c.(709-711)ccG>ccA	p.P237P	SLC8A2_uc002pgx.3_Silent_p.P237P|SLC8A2_uc010xyq.2_5'UTR|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	237					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCACGCACACCGGGAAGAAGA	0.672												
SLC17A7	57030	broad.mit.edu	37	19	49933892	49933892	+	Missense_Mutation	SNP	C	C	T	rs150211751		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:49933892C>T	uc002pnp.3	-	11	1739	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	SLC17A7_uc002pno.3_Missense_Mutation_p.E185K	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	523					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.S522S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		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;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCCTCCATTTCGCTGTCGTCA	0.662												
KLK14	43847	broad.mit.edu	37	19	51582885	51582885	+	Missense_Mutation	SNP	C	C	T	rs61998181	by1000genomes	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:51582885C>T	uc021uyk.1	-	4	554	c.335G>A	c.(334-336)cGt>cAt	p.R112H	KLK14_uc002pvs.1_Missense_Mutation_p.R112H	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	112	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGTCACCTGACGAACCACGCG	0.657												
SIGLEC8	27181	broad.mit.edu	37	19	51958738	51958738	+	Nonsense_Mutation	SNP	G	G	A	rs141833256		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:51958738G>A	uc002pwt.3	-	3	1052	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SIGLEC8_uc010yda.2_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	329	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R329Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCTGAGCTCGGCAGGTGAAT	0.637												
ZNF813	126017	broad.mit.edu	37	19	53994691	53994691	+	Missense_Mutation	SNP	G	G	A	rs140206311	by1000genomes	TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:53994691G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R402H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAATGCCATCGTAGACTTCAT	0.408												
ZNF274	10782	broad.mit.edu	37	19	58723898	58723898	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr19:58723898C>T	uc002qrq.1	+	8	1807	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	ZNF274_uc002qrr.1_Missense_Mutation_p.R418C|ZNF274_uc002qrs.1_Missense_Mutation_p.R345C|ZNF274_uc010eum.1_Missense_Mutation_p.R210C	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	451					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AAAACGATTGCGCAAACGTGA	0.428												
EMILIN1	11117	broad.mit.edu	37	2	27306459	27306459	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:27306459G>A	uc002rii.4	+	3	2519	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	674					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGGCGCTGATCTGGCTGA	0.562												
COL3A1	1281	broad.mit.edu	37	2	189859003	189859003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:189859003G>A	uc002uqj.1	+	17	1355	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	413	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATGGGAGCCCGGGGTCCTCCA	0.488												
ECEL1	9427	broad.mit.edu	37	2	233347307	233347307	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr2:233347307G>A	uc002vsv.2	-	10	1902	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	566					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCCTGTGGGGGGAGCAGCCA	0.617												
DTD1	92675	broad.mit.edu	37	20	18576672	18576672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:18576672C>T	uc002wrf.4	+	2	318	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	53					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						TCTAAACCTGCGTGTATTTGA	0.493												
XKR7	343702	broad.mit.edu	37	20	30585031	30585031	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:30585031G>A	uc002wxe.3	+	2	1685	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	504						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCAGGTGCGGCCTGGCTTG	0.677												
DNMT3B	1789	broad.mit.edu	37	20	31386409	31386409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:31386409G>A	uc002wyc.3	+	14	1955	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R525H|DNMT3B_uc002wye.3_Missense_Mutation_p.R525H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R483H|DNMT3B_uc010zua.2_Missense_Mutation_p.R449H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R244H|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	545	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAACGTGCGCCTGCAGGCC	0.627												
SRSF6	6431	broad.mit.edu	37	20	42089538	42089538	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:42089538G>C	uc010zwg.2	+	5	1040	c.870G>C	c.(868-870)aaG>aaC	p.K290N	SRSF6_uc002xki.3_Missense_Mutation_p.K161N	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	290	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GTGATATAAAGTCAAAATCCA	0.488												
NPBWR2	2832	broad.mit.edu	37	20	62737203	62737203	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr20:62737203G>A	uc011abt.2	-	0	982	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	328						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AATATGCTGCGGAAGTTCTTC	0.552												
FBLN2	2199	broad.mit.edu	37	3	13679191	13679191	+	Silent	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:13679191G>A	uc011avc.2	+	17	3850	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A	FBLN2_uc011auz.2_Silent_p.A1135A|FBLN2_uc011avb.2_Silent_p.A1109A|FBLN2_uc011ava.2_Silent_p.A1156A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TTGGCCCCGCGCCAGCCTTCA	0.622												
CTNNB1	1499	broad.mit.edu	37	3	41275669	41275669	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:41275669G>A	uc010hia.1	+	10	1720	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	CTNNB1_uc003ckq.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckp.2_Missense_Mutation_p.A522T|CTNNB1_uc003ckr.2_Missense_Mutation_p.A522T|CTNNB1_uc011azf.1_Missense_Mutation_p.A515T|CTNNB1_uc011azg.1_Missense_Mutation_p.A450T|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	522					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTTTGTCCCGCAAATCATGC	0.468		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of			
TGM4	7047	broad.mit.edu	37	3	44929232	44929232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:44929232C>T	uc003coc.4	+	2	318	c.245C>T	c.(244-246)aCg>aTg	p.T82M	TGM4_uc003coa.2_Missense_Mutation_p.T82M|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	82					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T82M(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACCCGAGGACGCCCTCAGAC	0.617												
CACNA1D	776	broad.mit.edu	37	3	53756373	53756373	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:53756373G>A	uc003dgv.4	+	11	1701	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	CACNA1D_uc003dgu.4_Missense_Mutation_p.R533H|CACNA1D_uc003dgy.4_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.4_Missense_Mutation_p.R180H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	513					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGATTCAATCGCAGAAGATGT	0.453												
PRR23B	389151	broad.mit.edu	37	3	138739098	138739098	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:138739098C>T	uc003esy.1	-	0	671	c.406G>A	c.(406-408)Gtc>Atc	p.V136I		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	136										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						AGCTCGACGACGACGTCCTCC	0.657												
P2RY13	53829	broad.mit.edu	37	3	151045981	151045981	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:151045981T>C	uc003eyv.2	-	1	884	c.863A>G	c.(862-864)gAc>gGc	p.D288G	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	288						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCTACAGTCAGTCTTATT	0.358												
SSR3	6747	broad.mit.edu	37	3	156271443	156271444	+	Splice_Site	INS	-	-	TTGTGCTTG			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:156271443_156271444insTTGTGCTTG	uc011bop.2	-	2	355	c.260_splice	c.e2+1	p.K87_splice	SSR3_uc003fau.3_Splice_Site_p.K87_splice	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	87					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACATACTTACTTGTGCTTGAG	0.312												
MFI2	4241	broad.mit.edu	37	3	196736682	196736682	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr3:196736682C>T	uc003fxk.4	-	11	1445	c.1331_splice	c.e11-1	p.P444_splice		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	444	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGCTGTCTTCCGCTGGGGAGA	0.632												
KDR	3791	broad.mit.edu	37	4	55968556	55968556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:55968556delC	uc003has.3	-	13	2409	c.2107delG	c.(2107-2109)gatfs	p.D703fs	KDR_uc003hat.1_Frame_Shift_Del_p.D703fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	703	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTCATTATCTTTAAACCAC	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
SMARCA5	8467	broad.mit.edu	37	4	144474296	144474296	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:144474296G>A	uc003ijg.3	+	23	3580	c.3118G>A	c.(3118-3120)Gca>Aca	p.A1040T		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	1040					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGGATGGCGCACCTGATGG	0.333												
GLRA3	8001	broad.mit.edu	37	4	175649758	175649758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr4:175649758G>A	uc003ity.1	-	3	862	c.359C>T	c.(358-360)cCc>cTc	p.P120L	GLRA3_uc003itz.1_Missense_Mutation_p.P120L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	120					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CAACATGGAGGGGTCGAGGTC	0.418												
PLEKHG4B	153478	broad.mit.edu	37	5	161944	161944	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:161944G>A	uc003jak.2	+	9	1516	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	489					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R489H(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AACCCGCAACGTACAGAGGAA	0.592												
UGT3A2	167127	broad.mit.edu	37	5	36035828	36035828	+	Missense_Mutation	SNP	C	C	T	rs138640717		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:36035828C>T	uc003jjz.2	-	6	1676	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	UGT3A2_uc011cos.2_Missense_Mutation_p.R481H|UGT3A2_uc011cot.2_Missense_Mutation_p.R213H	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	515			R -> H (in a colorectal cancer sample; somatic mutation).			integral to membrane	glucuronosyltransferase activity	p.R515H(4)		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)			TCTGGCCCCACGCAGCCACCA	0.577												
KCTD16	57528	broad.mit.edu	37	5	143853420	143853420	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr5:143853420C>T	uc003lnm.1	+	3	1659	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	KCTD16_uc003lnn.1_Missense_Mutation_p.R344C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	344						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R344H(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTCTGGACCGTCCCATCAA	0.587												
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:27775524C>T	uc003njl.3	-	0	186	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3H_uc003njm.3_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	Homo sapiens histone cluster 1, H2bl (HIST1H2BL), mRNA.	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582												
HLA-L	3139	broad.mit.edu	37	6	30228382	30228382	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:30228382C>T	uc003npv.2	+	2	503	c.53C>T	c.(52-54)gCg>gTg	p.A18V						Homo sapiens major histocompatibility complex, class I, L (pseudogene) (HLA-L), non-coding RNA.																		CTGCAGCACGCGGGTACCAGG	0.602												
DST	667	broad.mit.edu	37	6	56457035	56457035	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr6:56457035G>C	uc003pcy.4	-	29	5087	c.4979C>G	c.(4978-4980)tCt>tGt	p.S1660C	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4072					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	p.L1659M(1)		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)			AATAGGTTCAGATAAGTGTTT	0.433												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					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.G598V(31)|p.A597T(1)|p.A597P(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)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
FZD9	8326	broad.mit.edu	37	7	72849409	72849409	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:72849409T>A	uc003tyb.3	+	0	1301	c.1072T>A	c.(1072-1074)Ttc>Atc	p.F358I		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	358					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGCAGCTATTTCCACATGGC	0.652												
SRPK2	6733	broad.mit.edu	37	7	104782492	104782492	+	Silent	SNP	T	T	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:104782492T>C	uc003vct.3	-	9	1660	c.1473A>G	c.(1471-1473)agA>agG	p.R491R	SRPK2_uc003vcu.3_Silent_p.R491R|SRPK2_uc003vcv.3_Silent_p.R502R|SRPK2_uc003vcw.1_Silent_p.R491R	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	491	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R491R(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CTGAAACCGTTCTGCTTCTGT	0.512												
SSU72P8	136157	broad.mit.edu	37	7	124116511	124116511	+	Silent	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:124116511A>G								EU233817 (81339 upstream) : GPR37 (269603 downstream)																							TCAGGAGAAAAGGGCTAAGTG	0.517												
ATP6V0A4	50617	broad.mit.edu	37	7	138441286	138441286	+	Splice_Site	SNP	C	C	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:138441286C>G	uc003vuf.3	-	8	878	c.640_splice	c.e8-1	p.K214_splice	ATP6V0A4_uc003vug.3_Splice_Site_p.K214_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.K214_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	214					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTCTTCTTTCTGGAAAATCA	0.353												
MKRN1	23608	broad.mit.edu	37	7	140156627	140156627	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr7:140156627A>T	uc003vvt.2	-	4	1036	c.811T>A	c.(811-813)Ttt>Att	p.F271I	MKRN1_uc003vvs.2_Missense_Mutation_p.F207I|MKRN1_uc011krd.1_Missense_Mutation_p.F5I|MKRN1_uc003vvv.4_Missense_Mutation_p.F271I|MKRN1_uc003vvu.4_Missense_Mutation_p.F207I	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	271							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TGCACGGCAAATGAGAGCTCC	0.532												
C8orf58	541565	broad.mit.edu	37	8	22458597	22458597	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:22458597C>T	uc003xce.3	+	1	363	c.243C>T	c.(241-243)gcC>gcT	p.A81A	C8orf58_uc011kzl.2_Silent_p.A81A|C8orf58_uc003xcf.3_Silent_p.A81A	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA.	81										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCCCCTGGCCGCCTTACCGG	0.632												
DOCK5	80005	broad.mit.edu	37	8	25156484	25156484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:25156484C>T	uc003xeg.3	+	7	768	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.R211W	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	211						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTCGATTTGCGGGGCCAGTC	0.418												
PPP1R16A	84988	broad.mit.edu	37	8	145726654	145726654	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr8:145726654G>C	uc003zdd.3	+	9	2093	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.E394Q|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	394						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GACAGGCGCAGAGCTCAGGCC	0.736												
PTCH1	5727	broad.mit.edu	37	9	98209358	98209358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chr9:98209358G>A	uc004avk.4	-	22	4368	c.4180C>T	c.(4180-4182)Cga>Tga	p.R1394*	PTCH1_uc010mrn.3_Nonsense_Mutation_p.R186*|PTCH1_uc010mro.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.3_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.3_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.4_Nonsense_Mutation_p.R1243*|PTCH1_uc004avm.4_Nonsense_Mutation_p.R1393*|PTCH1_uc010mrr.3_Nonsense_Mutation_p.R1328*	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1394					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.R1394*(2)		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)				AGTCCCCCTCGGGGGTTCCGC	0.677												
ARSD	414	broad.mit.edu	37	X	2826829	2826829	+	Silent	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:2826829C>T	uc004cqy.3	-	8	1453	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	451						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				ACTCATGTGCCGAGCGTGCCT	0.572												
MAGEB6	158809	broad.mit.edu	37	X	26212934	26212934	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:26212934T>A	uc022buc.1	+	0	971	c.971T>A	c.(970-972)aTc>aAc	p.I324N	MAGEB6_uc004dbr.3_Missense_Mutation_p.I324N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	324	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGCATTCAATCTATGGGGAT	0.488												
FAM47A	158724	broad.mit.edu	37	X	34150200	34150200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:34150200C>T	uc004ddg.3	-	0	248	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	66								p.E66K(2)|p.P65P(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						AGAGTATCTTCGGGAGACGGA	0.552												
GPKOW	27238	broad.mit.edu	37	X	48976107	48976107	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:48976107G>A	uc004dmr.3	-	3	524	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	173	G-patch.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCCATGCCCCGCAGCATGGCC	0.597												
TRO	7216	broad.mit.edu	37	X	54949888	54949888	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:54949888G>A	uc004dtq.3	+	2	1030	c.923G>A	c.(922-924)aGg>aAg	p.R308K	TRO_uc011moj.1_Missense_Mutation_p.R251K|TRO_uc004dts.3_Missense_Mutation_p.R308K|TRO_uc004dtr.3_Missense_Mutation_p.R308K|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Intron|TRO_uc004dtx.3_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	308					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTGCCAGCAGGGGCCCAAAT	0.552												
KLHL4	56062	broad.mit.edu	37	X	86773199	86773199	+	Silent	SNP	A	A	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:86773199A>G	uc004efa.2	+	0	485	c.303A>G	c.(301-303)caA>caG	p.Q101Q	KLHL4_uc004efb.2_Silent_p.Q101Q	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	101						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACATTTTCAAGCAAATGAAG	0.438												
ESX1	80712	broad.mit.edu	37	X	103499199	103499199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:103499199G>A	uc004ely.3	-	1	211	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	48					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTTTGGACCGTGTATTCTCC	0.587												
MUM1L1	139221	broad.mit.edu	37	X	105451028	105451028	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:105451028A>C	uc022cca.1	+	0	1603	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L	MUM1L1_uc004emg.2_Missense_Mutation_p.M535L|MUM1L1_uc004emf.2_Missense_Mutation_p.M535L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	535										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACCAAGAAAATGTCCTTCCA	0.453												
KIAA1210	57481	broad.mit.edu	37	X	118219419	118219419	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:118219419T>A	uc004era.4	-	11	4775	c.4775A>T	c.(4774-4776)cAc>cTc	p.H1592L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1592										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACAGAAATGTGGGCCTTGAA	0.463												
BRS3	680	broad.mit.edu	37	X	135570275	135570275	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0125-02A-11D-2280-08	TCGA-06-0125-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96e3db14-2bb1-4f68-aed6-5e794750c96e	eae82a82-aa9f-4fea-b1da-e973e1982dc6	g.chrX:135570275T>G	uc004ezv.1	+	0	151	c.2T>G	c.(1-3)aTg>aGg	p.M1R		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	1					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.M1I(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCAGAAGAAATGGCTCAAAGG	0.378												
