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
ARHGEF16	27237	broad.mit.edu	37	1	3395016	3395016	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:3395016G>A	uc001akg.4	+	11	1902	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A256T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	552	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGGACTACGCCCAGATGAA	0.657												
HCRTR1	3061	broad.mit.edu	37	1	32084903	32084903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:32084903G>A	uc009vtx.2	+	2	495	c.110G>A	c.(109-111)cGc>cAc	p.R37H	HCRTR1_uc001btc.4_Missense_Mutation_p.A11T|HCRTR1_uc001btd.2_Missense_Mutation_p.R37H|HCRTR1_uc010ogl.2_Missense_Mutation_p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	37					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TATCTGTGGCGCGATTATCTG	0.607												
KANK4	163782	broad.mit.edu	37	1	62740564	62740564	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:62740564C>T	uc001dah.4	-	2	589	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	71								p.R71Q(6)|p.R71R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGAAGTTTCGGGGCAGAGT	0.557												
TGFBR3	7049	broad.mit.edu	37	1	92224221	92224221	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:92224221C>T	uc001doh.3	-	3	848	c.333G>A	c.(331-333)gtG>gtA	p.V111V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.V69V|TGFBR3_uc001doi.3_Silent_p.V111V|TGFBR3_uc001doj.3_Silent_p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	111					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAGATGCCACACCAGGGGGT	0.507												
PSRC1	84722	broad.mit.edu	37	1	109823399	109823399	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:109823399C>T	uc001dxj.3	-	5	1140	c.994_splice	c.e5+1	p.V332_splice	PSRC1_uc001dxb.3_Splice_Site_p.V132_splice|PSRC1_uc001dxc.3_Splice_Site_p.V302_splice|PSRC1_uc001dxd.3_Splice_Site_p.V302_splice|PSRC1_uc001dxf.3_Splice_Site_p.G268_splice	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	332	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GACCTCTTACCCTTGTGTCCA	0.552												
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:114682285C>T	uc021osa.1	-	1	542	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_uc021orz.1_Missense_Mutation_p.R70H|SYT6_uc001eev.3_Missense_Mutation_p.R70H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622												
FLG	2312	broad.mit.edu	37	1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:152282266C>T	uc001ezu.1	-	2	5132	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1698W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis			
PKLR	5313	broad.mit.edu	37	1	155264433	155264433	+	Missense_Mutation	SNP	C	C	T	rs142395015	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:155264433C>T	uc001fkb.4	-	5	844	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	PKLR_uc001fka.4_Missense_Mutation_p.V238I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	269					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCTCGGACGTCCTGCTCG	0.672												
KCNH1	3756	broad.mit.edu	37	1	210977475	210977475	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:210977475G>A	uc001hib.2	-	7	1666	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	KCNH1_uc001hic.2_Missense_Mutation_p.T472M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	499					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAAAATAGTCGTCACATTCCC	0.478												
FAM107B	83641	broad.mit.edu	37	10	14816316	14816316	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:14816316G>A	uc001ina.1	-	0	581	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCACAGTCCGCCCCATCATC	0.572												
AGAP5	729092	broad.mit.edu	37	10	75434500	75434500	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:75434500C>T	uc009xri.3	-	7	1959	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	AGAP5_uc001juu.4_Missense_Mutation_p.A601T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	640					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						AGGAGCTGTGCCAGGACCACA	0.667												
C10orf12	26148	broad.mit.edu	37	10	98741767	98741767	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:98741767G>A	uc001kmv.3	+	0	727	c.620G>A	c.(619-621)cGt>cAt	p.R207H	C10orf12_uc009xvg.2_Missense_Mutation_p.R517H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAACTGTTCGTACACTGGCC	0.433												
FANK1	92565	broad.mit.edu	37	10	127677132	127677132	+	Silent	SNP	G	G	A	rs146192515		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:127677132G>A	uc009yan.3	+	2	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_uc010quk.1_Silent_p.T62T|FANK1_uc001ljh.4_Silent_p.T68T|FANK1_uc001lji.3_Silent_p.T62T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	68	Fibronectin type-III.					cytoplasm|nucleus		p.T68T(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512												
INS-IGF2	3630	broad.mit.edu	37	11	2181082	2181082	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:2181082C>T	uc021qcd.1	-	1	571	c.333G>A	c.(331-333)taG>taA	p.*111*	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Silent_p.*111*|INS-IGF2_uc001lvn.2_Silent_p.*111*|INS-IGF2_uc009ydg.1_Splice_Site_p.*99_splice	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CGGGCTGCGTCTAGTTGCAGT	0.612												
CSNK2A1	283106	broad.mit.edu	37	11	11374589	11374589	+	Nonsense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:11374589G>C	uc001mjp.3	-	0	316	c.78C>G	c.(76-78)taC>taG	p.Y26*	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.473												
SLC5A12	159963	broad.mit.edu	37	11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:26734241G>A	uc001mra.2	-	1	665	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	118					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418												
LRRC4C	57689	broad.mit.edu	37	11	40135944	40135944	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:40135944G>T	uc021qgf.1	-	0	1899	c.1899C>A	c.(1897-1899)gaC>gaA	p.D633E	LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxa.1_Missense_Mutation_p.D633E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	633					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318												
OR5AR1	219493	broad.mit.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56431699G>A	uc010rjm.2	+	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483												
OR9G4	283189	broad.mit.edu	37	11	56511283	56511283	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56511283A>T	uc010rjo.2	-	0	5	c.5T>A	c.(4-6)aTt>aAt	p.I2N		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAGGGAAAATCATCACTTA	0.383												
OR4D6	219983	broad.mit.edu	37	11	59224665	59224665	+	Missense_Mutation	SNP	G	G	A	rs144983296	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:59224665G>A	uc010rku.2	+	0	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCTATCACCGTCCCCAAGTT	0.468												
ARHGEF17	9828	broad.mit.edu	37	11	73073628	73073628	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:73073628G>A	uc001otu.3	+	13	4866	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706												
ODZ4	26011	broad.mit.edu	37	11	78383335	78383335	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:78383335C>T	uc001ozl.4	-	30	5999	c.5536G>A	c.(5536-5538)Gta>Ata	p.V1846I	ODZ4_uc001ozk.4_Missense_Mutation_p.V71I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1846					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGCGTGTTACGCGATCAAAG	0.512												
PZP	5858	broad.mit.edu	37	12	9346769	9346769	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:9346769G>A	uc001qvl.3	-	10	1187	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	PZP_uc009zgl.3_Silent_p.D255D	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATAATTGGCGTCATTCACAG	0.408												
NR1H4	9971	broad.mit.edu	37	12	100897268	100897268	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:100897268G>A	uc001tht.2	+	0	131	c.103G>A	c.(103-105)Gcg>Acg	p.A35T	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.A35T	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	35					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G35G(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGAAGCCCGCGAAAGGTAG	0.463												
RBM19	9904	broad.mit.edu	37	12	114377904	114377904	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:114377904G>A	uc009zwi.2	-	14	1943	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V	RBM19_uc001tvn.4_Missense_Mutation_p.A600V|RBM19_uc001tvm.3_Missense_Mutation_p.A600V	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	600	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGCTGGGCCGCCAGGGTGCC	0.627												
CKAP2	26586	broad.mit.edu	37	13	53029668	53029668	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr13:53029668C>T	uc001vgv.2	+	0					CKAP2_uc001vgt.2_5'UTR|CKAP2_uc001vgu.2_5'UTR|CKAP2_uc010tha.1_5'Flank	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.						apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAGCGGAGACGCATCCCCCG	0.672												
SLC7A8	23428	broad.mit.edu	37	14	23600746	23600746	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:23600746C>T	uc001wiz.3	-	7	1763	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.2_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.2_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	346					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGCCCTCTCGGGCTCCAGC	0.592												
SPTB	6710	broad.mit.edu	37	14	65261276	65261276	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:65261276C>T	uc001xht.3	-	11	1755	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	SPTB_uc001xhr.3_Silent_p.Q568Q|SPTB_uc001xhs.3_Silent_p.Q568Q|SPTB_uc001xhu.3_Silent_p.Q568Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	568					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTTGTGCTTCTGTAGCAGGT	0.522												
EXD2	55218	broad.mit.edu	37	14	69702870	69702870	+	Splice_Site	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:69702870G>T	uc001xky.3	+	7	1402	c.1156_splice	c.e7+1	p.E386_splice	EXD2_uc001xkt.3_Splice_Site_p.E261_splice|EXD2_uc001xkv.3_Splice_Site_p.E386_splice|EXD2_uc001xkw.3_Splice_Site_p.E261_splice|EXD2_uc001xku.3_Splice_Site_p.E131_splice|EXD2_uc001xkx.3_Splice_Site_p.E261_splice|EXD2_uc010aqt.3_Splice_Site_p.E386_splice|EXD2_uc010tte.2_Splice_Site_p.E386_splice	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	261					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCATTGGTGGTATGAGATTC	0.478												
CAPN3	825	broad.mit.edu	37	15	42700426	42700426	+	Silent	SNP	G	G	A	rs28364528	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:42700426G>A	uc001zpn.1	+	15	2124	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	606	Linker.		S -> L (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTTCGTTTCGGACAGAGCAA	0.552												
GOLGA6B	55889	broad.mit.edu	37	15	72954655	72954655	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:72954655G>A	uc010uks.1	+	10	951	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	304										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACAAGATGAGGCCAAACACCT	0.542												
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89391161C>T	uc010upo.1	+	8	1998	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	542					cell adhesion		hyaluronic acid binding|sugar binding	p.R542W(2)|p.P541P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607												
ACAN	176	broad.mit.edu	37	15	89401858	89401858	+	Silent	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89401858A>G	uc010upo.1	+	11	6416	c.6042A>G	c.(6040-6042)gtA>gtG	p.V2014V	ACAN_uc010upp.1_Silent_p.V2014V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2014					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACCAATGTAAGTGGAGAAT	0.522												
TP53	7157	broad.mit.edu	37	17	7578264	7578268	+	Frame_Shift_Del	DEL	GATAA	GATAA	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:7578264_7578268delGATAA	uc002gim.2	-	5	775_779	c.581_585delTTATC	c.(580-585)cttatcfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.3_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.2_Frame_Shift_Del_p.L155fs|DL476358_uc021tph.1_3'UTR	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(84)|p.H193R(72)|p.I195F(38)|p.H193L(35)|p.H193Y(27)|p.I195N(24)|p.L194F(18)|p.L194P(16)|p.I195S(16)|p.H193P(14)|p.L194H(14)|p.I195fs*14(10)|p.H193D(9)|p.I195fs*52(9)|p.L194L(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.R196*(7)|p.?(6)|p.L101R(5)|p.L62R(5)|p.P191_E198>Q(4)|p.I195M(4)|p.H193N(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.P191fs*53(2)|p.L194fs*14(2)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.I102T(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.L101H(1)|p.I63fs*14(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.L194I(1)|p.I63M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTCCACTCGGATAAGATGCTGAGG	0.551		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH2	4620	broad.mit.edu	37	17	10447064	10447064	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:10447064G>A	uc010coi.3	-	7	833	c.705C>T	c.(703-705)aaC>aaT	p.N235N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N235N|MYH2_uc010coj.3_Silent_p.N235N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	235	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGTCTTGGCGTTGCCAAAGG	0.478												
HOXB3	3213	broad.mit.edu	37	17	46628102	46628102	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:46628102G>A	uc002inn.3	-	1	1290	c.890C>T	c.(889-891)gCc>gTc	p.A297V	HOXB3_uc010wlm.2_Missense_Mutation_p.A224V|HOXB3_uc010dbf.3_Missense_Mutation_p.A297V|HOXB3_uc010dbg.3_Missense_Mutation_p.A297V|HOXB3_uc002ino.3_Missense_Mutation_p.A297V|HOXB3_uc010wlk.2_Missense_Mutation_p.A165V|HOXB3_uc010wll.2_Missense_Mutation_p.A224V	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	297					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTGGTGGGCTTTACCGAA	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:5428401G>A	uc002kmt.1	-	8	1062	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R326R(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418												
DSG3	1830	broad.mit.edu	37	18	29038467	29038467	+	Silent	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:29038467C>A	uc002kws.3	+	3	385	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	92	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438												
QTRT1	81890	broad.mit.edu	37	19	10823297	10823297	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr19:10823297G>A	uc002mpr.3	+	6	879	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	285					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TTCCCCACACGGACAGCGGTG	0.632												
AUP1	550	broad.mit.edu	37	2	74756731	74756731	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:74756731G>A	uc002smh.3	-	0					AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Missense_Mutation_p.P9L|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.R40W|AUP1_uc021vjm.1_5'UTR|AUP1_uc010yry.2_Missense_Mutation_p.P9L|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GAGCCGCTCCGGCCCCGGCCC	0.711												
ASTL	431705	broad.mit.edu	37	2	96795617	96795617	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:96795617G>A	uc010yui.2	-	7	820	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	274					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAGGACCCGGGTGATGTCC	0.652												
ACMSD	130013	broad.mit.edu	37	2	135621053	135621053	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:135621053G>T	uc002ttz.3	+	4	405	c.338G>T	c.(337-339)gGt>gTt	p.G113V	ACMSD_uc002tua.3_Missense_Mutation_p.G55V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	113					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGTTCGTGGGTCTGGGGACG	0.587												
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468												
TTN	7273	broad.mit.edu	37	2	179575562	179575562	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:179575562G>A	uc021vsy.1	-	94	24755	c.24530C>T	c.(24529-24531)aCg>aTg	p.T8177M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9104	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGTGCCCGTGACGTGGCA	0.522												
PLCL1	5334	broad.mit.edu	37	2	198968641	198968641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:198968641G>A	uc010fsp.3	+	4	3484	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	PLCL1_uc002uuv.4_Nonsense_Mutation_p.W950*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCTTTGCTTGGAACATTACA	0.403												
ESPNL	339768	broad.mit.edu	37	2	239039147	239039147	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:239039147C>T	uc002vxq.4	+	8	1902	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	ESPNL_uc010fyw.3_Missense_Mutation_p.R294C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	598										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACATCTCCCGCCTGGTACG	0.692												
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Silent	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:9370528T>C	uc021wam.1	+	12	1176	c.1161T>C	c.(1159-1161)gaT>gaC	p.D387D	PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.3_Silent_p.D387D|PLCB4_uc021wal.1_Silent_p.D387D|PLCB4_uc002wnh.3_Silent_p.D234D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333												
WFDC3	140686	broad.mit.edu	37	20	44417585	44417585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:44417585G>A	uc002xpf.1	-	2	280	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	66	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAATGTCTCGGCAGATCCGA	0.527												
ZBP1	81030	broad.mit.edu	37	20	56191402	56191402	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:56191402T>G	uc002xyo.3	-	1	438	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	ZBP1_uc010gjm.3_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.K53Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	53			K -> R (in dbSNP:rs35895307).			cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AACTCCTTTTTCATTCGGTAG	0.597												
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697												
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:35796511G>A	uc003anu.4	+	1	174	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_uc003anv.4_Missense_Mutation_p.R27H	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	27					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647												
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:39497965C>T	uc021wpt.1	+	3	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537												
CENPM	79019	broad.mit.edu	37	22	42342475	42342475	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:42342475A>G	uc003bbn.3	-	1	151	c.83T>C	c.(82-84)cTg>cCg	p.L28P	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	28					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CAGCTGCTGCAGAAGAGCATC	0.662											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CSPG5	10675	broad.mit.edu	37	3	47619104	47619104	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:47619104T>C	uc003crp.4	-	1	588	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Missense_Mutation_p.I138V|CSPG5_uc021wxh.1_Missense_Mutation_p.I138V|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	138					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGCATGATTGACTGCCCG	0.692												
KBTBD12	166348	broad.mit.edu	37	3	127682174	127682174	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:127682174C>T	uc010hsr.3	+	3	1638	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	KBTBD12_uc003ejy.4_Silent_p.T152T|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.T120T|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	545										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAATTCCACCAATGCAGGGG	0.532												
CNGA1	1259	broad.mit.edu	37	4	47938532	47938532	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:47938532G>T	uc003gxu.3	-	9	2327	c.2186C>A	c.(2185-2187)aCc>aAc	p.T729N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.T660N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	660					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAACCTTGGTTAATCTTTG	0.463												
CENPE	1062	broad.mit.edu	37	4	104068560	104068560	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:104068560C>A	uc003hxb.1	-	28	4177	c.4087G>T	c.(4087-4089)Gtt>Ttt	p.V1363F	CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1363					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATGTTTAACTTCAAGGGCT	0.343												
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:153244185G>A	uc003ims.3	-	11	2134	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_uc011cii.2_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.3_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.2_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.3_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.3_Nonsense_Mutation_p.R540*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(6)|p.R658Q(1)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
NPY5R	4889	broad.mit.edu	37	4	164271738	164271738	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:164271738G>C	uc003iqn.3	+	3	495	c.313G>C	c.(313-315)Gat>Cat	p.D105H	NPY5R_uc021xtw.1_Missense_Mutation_p.D105H	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	105					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTGCTGGATCAGTGGAT	0.393												
SLC9A3	6550	broad.mit.edu	37	5	482707	482707	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:482707C>T	uc003jbe.2	-	6	1424	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	438						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGTGCTGACGAACAGGTTC	0.652												
GPR98	84059	broad.mit.edu	37	5	89954051	89954051	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:89954051A>G	uc003kju.3	+	20	4804	c.4708A>G	c.(4708-4710)Aat>Gat	p.N1570D	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1570					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAAGTGACAATGCAAATGG	0.343												
NUP153	9972	broad.mit.edu	37	6	17616339	17616339	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:17616339G>A	uc003ncd.1	-	21	4617	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1473					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTTCCTGCGTCTAACAGCA	0.388												
SUPT3H	8464	broad.mit.edu	37	6	44922308	44922308	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:44922308C>T	uc003oxp.3	-	7	783	c.617G>A	c.(616-618)tGc>tAc	p.C206Y	SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc003oxo.3_Missense_Mutation_p.C217Y|SUPT3H_uc011dvv.2_Missense_Mutation_p.C54Y|SUPT3H_uc011dvw.2_Missense_Mutation_p.C120Y	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	288					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATACTGCTGCAGTCCAACCA	0.348												
MEP1A	4224	broad.mit.edu	37	6	46761453	46761453	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:46761453G>A	uc011dwh.1	+	2	237	c.229_splice	c.e2+1	p.A77_splice	MEP1A_uc010jzh.1_Splice_Site_p.A49_splice|MEP1A_uc011dwg.1_Splice_Site|MEP1A_uc011dwi.1_Splice_Site	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	49	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATCAATTTAGGTGAGTTCAA	0.313												
HTR1E	3354	broad.mit.edu	37	6	87725079	87725079	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:87725079G>A	uc003pli.3	+	1	730	c.27G>A	c.(25-27)gaG>gaA	p.E9E	HTR1E_uc021zcg.1_Silent_p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	9					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTACCACAGAGGCCAGCATGG	0.473												
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:146720758C>T	uc010khw.1	+	7	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	861					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCATGTTGGCGATGGCAAGC	0.522												
SYNE1	23345	broad.mit.edu	37	6	152763368	152763368	+	Missense_Mutation	SNP	G	G	A	rs140780725		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:152763368G>A	uc021zhb.1	-	28	4073	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W	SYNE1_uc003qot.4_Missense_Mutation_p.R1291W|SYNE1_uc003qou.4_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.3_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1284					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGAGATCCGCTTTGTCTTT	0.512										HNSCC(10;0.0054)		
SLC22A2	6582	broad.mit.edu	37	6	160662608	160662608	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:160662608C>T	uc003qtf.3	-	8	1573	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	467					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.G466A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGATGTGGACGCCAAGATTC	0.453												
UNC93A	54346	broad.mit.edu	37	6	167728686	167728686	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:167728686G>A	uc003qvq.3	+	7	1295	c.1120G>A	c.(1120-1122)Gtt>Att	p.V374I	UNC93A_uc003qvr.3_Missense_Mutation_p.V332I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	374						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTCTACGGCGTTCTGTTTGA	0.567												
CALN1	83698	broad.mit.edu	37	7	71488740	71488740	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:71488740C>A	uc003twb.4	-	4	794	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CALN1_uc003twa.4_Missense_Mutation_p.D93Y|CALN1_uc003twc.4_Missense_Mutation_p.D93Y	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	93						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.E135K(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458												
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:87148697G>A	uc003uiz.2	-	23	3365	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_uc011khc.2_Missense_Mutation_p.R894W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCTCCAAACCGGAAACATCCA	0.378												
PEX1	5189	broad.mit.edu	37	7	92120719	92120719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:92120719C>A	uc003uly.3	-	20	3401	c.3305G>T	c.(3304-3306)tGt>tTt	p.C1102F	PEX1_uc011khr.2_Missense_Mutation_p.C894F|PEX1_uc010ley.3_Missense_Mutation_p.C1045F|PEX1_uc011khs.2_Missense_Mutation_p.C780F	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1102					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATCTAAGCCACATTCTCCATC	0.428												
NPTX2	4885	broad.mit.edu	37	7	98254301	98254301	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:98254301C>T	uc003upl.2	+	2	888	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	237	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587												
LMOD2	442721	broad.mit.edu	37	7	123302696	123302696	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:123302696G>A	uc003vky.2	+	1	1213	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	352						cytoskeleton	actin binding|tropomyosin binding	p.M352I(1)									CAAGAAATATGGATAAACAGA	0.473												
TRPV5	56302	broad.mit.edu	37	7	142622682	142622682	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:142622682C>T	uc003wby.1	-	7	1328	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TRPV5_uc003wbz.3_Missense_Mutation_p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	355					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(2)|p.R355H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517												
OR2A12	346525	broad.mit.edu	37	7	143792808	143792808	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:143792808C>T	uc011kty.2	+	0	608	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCGGGTTCTGCGTTCATCTTA	0.537												
SSPO	23145	broad.mit.edu	37	7	149502623	149502623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:149502623delC	uc010lpk.3	+	56	8427	c.8427delC	c.(8425-8427)tgcfs	p.C2809fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2812	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCATCCTGCCCAGGAGATG	0.682												
NOS3	4846	broad.mit.edu	37	7	150703567	150703567	+	Missense_Mutation	SNP	G	G	A	rs145168353	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:150703567G>A	uc003wif.3	+	14	2101	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	NOS3_uc011kuy.2_Missense_Mutation_p.R396Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	602	Flavodoxin-like.		R -> Q (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R602Q(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTCCCCTCGGCCGGAACAG	0.542												
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:10390524C>T	uc003wta.3	+	3	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	236	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483												
PHYHIP	9796	broad.mit.edu	37	8	22079191	22079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:22079191G>A	uc003xbk.4	-	5	1362	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PHYHIP_uc003xbj.4_Missense_Mutation_p.A223V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GTAGAAGTCCGCAAAGTAGAG	0.657												
SULF1	23213	broad.mit.edu	37	8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70536309G>A	uc003xyg.2	+	13	2288	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	SULF1_uc010lza.1_Missense_Mutation_p.R576H|SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	576					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R576C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498												
SLCO5A1	81796	broad.mit.edu	37	8	70744225	70744225	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70744225G>A	uc003xyl.3	-	1	1391	c.684C>T	c.(682-684)aaC>aaT	p.N228N	SLCO5A1_uc010lzb.3_Silent_p.N228N|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	228						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGCCGAGGCGTTCAACTCTT	0.637												
KIAA1161	57462	broad.mit.edu	37	9	34372688	34372688	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:34372688G>A	uc003zue.4	-	2	418	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	85					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTCGCTCCGCCTTGCGTAG	0.662												
FAM214B	80256	broad.mit.edu	37	9	35108015	35108015	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:35108015C>T	uc003zwl.3	-	2	582	c.257G>A	c.(256-258)gGg>gAg	p.G86E	FAM214B_uc003zwm.3_Missense_Mutation_p.G86E|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.G86E|FAM214B_uc003zwp.1_Missense_Mutation_p.G86E|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.G86E	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	86						nucleus											CTCTCTGGCCCCCAGCCCAGG	0.637												
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:109746495C>T	uc004bcz.3	+	9	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.C2196C|ZNF462_uc004bda.3_Silent_p.C2195C|ZNF462_uc011lvz.2_Silent_p.C244C|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2287					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C2287C(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423												
USP20	10868	broad.mit.edu	37	9	132625554	132625555	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:132625554_132625555delTC	uc004bys.2	+	8	798_799	c.587_588delTC	c.(586-588)gtcfs	p.V196fs	USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	196					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGAAGCTGGTCTCTGAGGTCT	0.589												
PHEX	5251	broad.mit.edu	37	X	22151701	22151701	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:22151701A>T	uc004dah.3	+	11	1567	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V	PHEX_uc011mjr.2_Missense_Mutation_p.E455V|PHEX_uc011mjs.2_Missense_Mutation_p.E358V	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	455					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGAAAATGAGTGGATGGAT	0.403												
GLUD2	2747	broad.mit.edu	37	X	120183085	120183085	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:120183085G>A	uc004eto.3	+	0	1624	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	516					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAATGGAGCGTTCTGCCAGG	0.468												
ENOX2	10495	broad.mit.edu	37	X	129759413	129759413	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:129759413T>G	uc004evw.3	-	15	2126	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ENOX2_uc004evx.3_Missense_Mutation_p.T541P|ENOX2_uc004evy.3_Missense_Mutation_p.T541P|ENOX2_uc004evv.3_Missense_Mutation_p.T395P	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	570					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACATCGCTGGTGCAGATCTGT	0.463												
SLITRK2	84631	broad.mit.edu	37	X	144903994	144903997	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:144903994_144903997delACAG	uc022cfn.1	+	0	51_54	c.51_54delACAG	c.(49-54)ttacagfs	p.L17fs	SLITRK2_uc004fcd.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	17						integral to membrane		p.Q18Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGATCTTACAGACAGAGAGTC	0.471												
L1CAM	3897	broad.mit.edu	37	X	153137805	153137805	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:153137805G>A	uc004fjb.3	-	3	310	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	L1CAM_uc004fjc.3_Missense_Mutation_p.R68C|L1CAM_uc010nuo.3_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.R63C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	68	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGTCCAGCGGAACCTGTGG	0.637												
