Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR5D18	219438	broad.mit.edu	37	11	55587681	55587681	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:55587681T>A	ENST00000333976.4	+	1	596	c.576T>A	c.(574-576)gaT>gaA	p.D192E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTGCTCTGATACTTACATCA	0.398000													48	192					0	0	0.870114	0	0
WDR66	144406	broad.mit.edu	37	12	122359424	122359424	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:122359424G>C	ENST00000288912.4	+	2	1067	c.213G>C	c.(211-213)aaG>aaC	p.K71N	WDR66_ENST00000397454.2_Missense_Mutation_p.K71N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	71	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		aggaCAAAAAGATTGTCATGG	0.498000													16	30					0	0	0.608945	0	0
TTC37	9652	broad.mit.edu	37	5	94849322	94849322	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849322A>T	ENST00000358746.2	-	27	3029	c.2731T>A	c.(2731-2733)Tat>Aat	p.Y911N	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATGGTGTCATAACTTCCAACT	0.333000													28	58					0	0	0.750413	0	0
AATK	9625	broad.mit.edu	37	17	79095073	79095073	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:79095073G>A	ENST00000326724.4	-	11	2687	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	AATK_ENST00000417379.1_Missense_Mutation_p.P785L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	888						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCGGAAGGCTGGCACCACATC	0.657000													4	28					0	0	0.184627	0	0
CDH13	1012	broad.mit.edu	37	16	83065808	83065808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:83065808C>G	ENST00000566620.1	+	3	641	c.351C>G	c.(349-351)atC>atG	p.I117M	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.I117M|CDH13_ENST00000446376.2_Missense_Mutation_p.I117M|CDH13_ENST00000428848.3_Missense_Mutation_p.I117M|CDH13_ENST00000268613.10_Missense_Mutation_p.I164M|CDH13_ENST00000431540.3_Missense_Mutation_p.I117M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	117					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGAAAGACATCCAGGGCTCCT	0.468000													10	24					0	0	0.335167	0	0
PKHD1	5314	broad.mit.edu	37	6	51947979	51947979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:51947979C>T	ENST00000371117.3	-	3	402	c.127G>A	c.(127-129)Gat>Aat	p.D43N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D43N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	43	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCTACCATCAAAAATGACT	0.398000													13	117					0	0	0.479597	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598823	79598823	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:79598823C>T	ENST00000263849.4	+	4	434	c.332C>T	c.(331-333)cCt>cTt	p.P111L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	111																	CCTCCTCCTCCTCCACCTTCT	0.378000													13	50					0	0	0.479597	0	0
SPINT1	6692	broad.mit.edu	37	15	41145416	41145416	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:41145416C>A	ENST00000344051.4	+	3	804	c.570C>A	c.(568-570)cgC>cgA	p.R190R	SPINT1_ENST00000562057.1_Silent_p.R190R|SPINT1_ENST00000431806.1_Silent_p.R190R			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGATTGGCGCCTACTGCGGG	0.617000													46	145					2.24722e-20	2.57528e-20	0.870114	1	0
ANKRD52	283373	broad.mit.edu	37	12	56638175	56638175	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:56638175C>T	ENST00000267116.7	-	25	2888	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	923							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCTTGTTCTCATCCAACACA	0.507000													17	47					0	0	0.539581	0	0
ZNF451	26036	broad.mit.edu	37	6	56999545	56999545	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:56999545C>T	ENST00000370706.4	+	7	823	c.579C>T	c.(577-579)ttC>ttT	p.F193F	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F193F|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F193F|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.F193F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGTAGGTTCGATCACTCTC	0.353000													32	96					0	0	0.788014	0	0
DGCR2	9993	broad.mit.edu	37	22	19050747	19050747	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:19050747G>A	ENST00000545799.1	-	5	784	c.584C>T	c.(583-585)tCc>tTc	p.S195F	DGCR2_ENST00000263196.7_Missense_Mutation_p.S198F|DGCR2_ENST00000537045.1_Missense_Mutation_p.S157F|DGCR2_ENST00000473832.1_5'UTR			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	198	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACCTTCCAAGGAGCGGTTCCG	0.582000													10	42					0	0	0.411799	0	0
CTNND2	1501	broad.mit.edu	37	5	11384811	11384811	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:11384811G>C	ENST00000304623.8	-	7	1332	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.A381A|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.A290A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	381					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGTGGCCGTGGCATACAGCT	0.697000													10	30					0	0	0.411799	0	0
ACAD8	27034	broad.mit.edu	37	11	134131693	134131693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:134131693G>A	ENST00000281182.4	+	9	1107	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.R257H|ACAD8_ENST00000374752.4_Missense_Mutation_p.R207H|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	334			R -> C (in IBDD).		branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTGATGGTCCGCAATGCAGCA	0.557000													3	33					0	0	0.115264	0	0
TTC37	9652	broad.mit.edu	37	5	94849321	94849321	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849321T>A	ENST00000358746.2	-	27	3030	c.2732A>T	c.(2731-2733)tAt>tTt	p.Y911F	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CATGGTGTCATAACTTCCAAC	0.328000													28	59					0	0	0.750413	0	0
TACR3	6870	broad.mit.edu	37	4	104511031	104511031	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:104511031G>A	ENST00000304883.2	-	5	1346	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	402						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGTCACGGTGTACATAC	0.502000													88	281					0	0	0.870114	0	0
LRRK1	79705	broad.mit.edu	37	15	101588744	101588744	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:101588744A>T	ENST00000284395.5	+	23	3572	c.3172A>T	c.(3172-3174)Acc>Tcc	p.T1058S	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.T1061S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1061					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGAAAGTCACCATTTACAG	0.433000													42	135					0	0	0.853193	0	0
SCN8A	6334	broad.mit.edu	37	12	52056740	52056740	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:52056740G>A	ENST00000354534.5	+	2	317	c.139G>A	c.(139-141)Gac>Aac	p.D47N	SCN8A_ENST00000545061.1_Missense_Mutation_p.D47N|SCN8A_ENST00000550891.1_Missense_Mutation_p.D47N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	47					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCATCGGGAGGACGATGAGGA	0.552000													43	111					0	0	0.834066	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709328	128709328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:128709328C>T	ENST00000392665.2	-	2	955	c.811G>A	c.(811-813)Gac>Aac	p.D271N	KCNJ1_ENST00000392664.2_Missense_Mutation_p.D290N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	290					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATTCAAAGTCCTGCTGGAGA	0.478000													37	72					0	0	0.804634	0	0
PC	5091	broad.mit.edu	37	11	66620711	66620711	+	Splice_Site	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66620711G>T	ENST00000393960.1	-	13	1793	c.1513_splice	c.e13+1	p.L504_splice	PC_ENST00000393955.2_Splice_Site_p.L504_splice|PC_ENST00000393958.2_Splice_Site_p.L504_splice	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	504					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCCAGACCGAGGTAGTGCA	0.617000													27	74					7.41945e-09	7.92418e-09	0.693898	1	0
OSBPL6	114880	broad.mit.edu	37	2	179214036	179214036	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179214036C>T	ENST00000190611.4	+	12	1449	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	OSBPL6_ENST00000315022.2_Missense_Mutation_p.P362L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P327L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P383L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P358L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P327L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P358L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	358					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGACTCCCCCTAGCCACCTC	0.438000													83	278					0	0	0.870114	0	0
KIF23	9493	broad.mit.edu	37	15	69733141	69733141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:69733141G>A	ENST00000260363.4	+	18	2219	c.2102G>A	c.(2101-2103)gGc>gAc	p.G701D	KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.G701D|KIF23_ENST00000352331.4_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	701					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATTTCCAACGGCCAGCAACTC	0.398000													3	68					0	0	0.115264	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228939	118228939	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:118228939C>A	ENST00000360388.4	+	1	251	c.50C>A	c.(49-51)gCc>gAc	p.A17D		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	17					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCGTCGCCAGCCCCGCCGAAC	0.746000													4	10					0.184627	0.18701	0.184627	1	0
ZFHX4	79776	broad.mit.edu	37	8	77619978	77619978	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:77619978C>A	ENST00000521891.2	+	3	3236	c.2788C>A	c.(2788-2790)Ctc>Atc	p.L930I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L930V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCGCTCTCTCCCTGAAGA	0.512000										HNSCC(33;0.089)			12	53					6.40141e-05	6.70014e-05	0.387290	1	0
HCN1	348980	broad.mit.edu	37	5	45396672	45396672	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:45396672G>C	ENST00000303230.4	-	4	1209	c.1152C>G	c.(1150-1152)acC>acG	p.T384T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	384						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCATAGCAGGTGGCCCCGA	0.507000													23	76					0	0	0.639603	0	0
MYPN	84665	broad.mit.edu	37	10	69908207	69908207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:69908207G>T	ENST00000358913.5	+	5	1716	c.1228G>T	c.(1228-1230)Gtg>Ttg	p.V410L	MYPN_ENST00000540630.1_Missense_Mutation_p.V410L|MYPN_ENST00000354393.2_Missense_Mutation_p.V135L|MYPN_ENST00000373675.3_Missense_Mutation_p.V410L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	410	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAACCTCGTGTGGCAACCAT	0.527000													23	67					2.32416e-17	2.60638e-17	0.624587	1	0
MAU2	23383	broad.mit.edu	37	19	19431858	19431858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:19431858G>A	ENST00000392313.5	+	1	236	c.190G>A	c.(190-192)Gag>Aag	p.E64K	MAU2_ENST00000262815.8_Missense_Mutation_p.E64K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	64	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCAGCGCATCGAGGCCCGTAC	0.672000													6	21					0	0	0.307466	0	0
RXFP1	59350	broad.mit.edu	37	4	159560442	159560442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:159560442C>G	ENST00000307765.5	+	14	1325	c.1074C>G	c.(1072-1074)atC>atG	p.I358M	RXFP1_ENST00000448688.2_Missense_Mutation_p.I253M|RXFP1_ENST00000460056.2_Missense_Mutation_p.I277M|RXFP1_ENST00000343542.5_Missense_Mutation_p.I310M|RXFP1_ENST00000470033.1_Missense_Mutation_p.I325M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	358						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCAAATATCCAACAAAGGA	0.274000													14	75					0	0	0.520397	0	0
ZNF292	23036	broad.mit.edu	37	6	87969024	87969024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:87969024C>T	ENST00000369577.3	+	8	5720	c.5677C>T	c.(5677-5679)Caa>Taa	p.Q1893*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q1888*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATAAACATTCAATTTAATGA	0.353000													23	63					0	0	0.624587	0	0
ITGB6	3694	broad.mit.edu	37	2	161030575	161030575	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:161030575G>A	ENST00000283249.2	-	5	906	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.F181F|ITGB6_ENST00000409872.1_Silent_p.F223F|ITGB6_ENST00000409967.2_Silent_p.F223F			P18564	ITB6_HUMAN	integrin, beta 6	223	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAATTTCATTGAATCTTTCAG	0.353000													17	52					0	0	0.520397	0	0
SCN11A	11280	broad.mit.edu	37	3	38888755	38888755	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:38888755C>A	ENST00000450244.1	-	26	5004	c.4806G>T	c.(4804-4806)gtG>gtT	p.V1602V	SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000302328.3_Silent_p.V1602V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1602					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTCTAAAATCACAGCAATGT	0.413000													4	123					0.00909568	0.00933348	0.150653	1	0
TBPL1	9519	broad.mit.edu	37	6	134308158	134308158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:134308158A>G	ENST00000237264.4	+	7	816	c.541A>G	c.(541-543)Agc>Ggc	p.S181G	TBPL1_ENST00000477527.1_3'UTR	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	181					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		TGTGTTTGAAAGCAGGAAAGA	0.398000													23	83					0	0	0.639603	0	0
LOC645166	645166	broad.mit.edu	37	1	148932860	148932860	+	RNA	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:148932860G>C	ENST00000539543.1	+	0	116					NR_027355.1																						CCAGTACCAAGAGTTGGTGGG	0.622000													17	268					0	0	0.539581	0	0
FCGBP	8857	broad.mit.edu	37	19	40367904	40367904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:40367904G>T	ENST00000221347.6	-	29	13063	c.13056C>A	c.(13054-13056)tgC>tgA	p.C4352*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4352	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTTTTCTGGGCAGGTGATCT	0.617000													45	167					1.32136e-16	1.4713e-16	0.840704	1	0
LGSN	51557	broad.mit.edu	37	6	63990490	63990490	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:63990490A>G	ENST00000370658.5	-	5	578	c.545T>C	c.(544-546)aTa>aCa	p.I182T	LGSN_ENST00000370657.4_Silent_p.D322D	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	346					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTTTCTTCCTATCGACATCCC	0.438000													33	81					0	0	0.750413	0	0
OR2W5	441932	broad.mit.edu	37	1	247654496	247654496	+	RNA	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:247654496C>A	ENST00000522351.1	+	0	127							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCGGCCTGGACTGGAGAAAAT	0.488000													22	81					7.41877e-09	7.92418e-09	0.608945	1	0
CD109	135228	broad.mit.edu	37	6	74516767	74516767	+	Missense_Mutation	SNP	C	C	G	rs141815508		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:74516767C>G	ENST00000437994.2	+	25	3592	c.3161C>G	c.(3160-3162)aCt>aGt	p.T1054S	CD109_ENST00000287097.5_Missense_Mutation_p.T1054S|CD109_ENST00000422508.2_Missense_Mutation_p.T977S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1054						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATTGTAACTTCTCTCCTG	0.363000													16	51					0	0	0.539581	0	0
SCO2	9997	broad.mit.edu	37	22	50962708	50962708	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962708C>T	ENST00000543927.1	-	2	339	c.133G>A	c.(133-135)Gag>Aag	p.E45K	SCO2_ENST00000395693.3_Missense_Mutation_p.E45K|SCO2_ENST00000535425.1_Missense_Mutation_p.E45K|SCO2_ENST00000252785.3_Missense_Mutation_p.E45K	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	45					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTGTCTCTGCAGGGCCC	0.692000													29	63					0	0	0.804634	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779266	52779266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:52779266G>T	ENST00000216862.3	-	7	1373	c.980C>A	c.(979-981)gCg>gAg	p.A327E	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A185E|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A327E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	327					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTTTCCACCGCAGCCAGCTG	0.418000													26	64					3.73148e-12	4.0968e-12	0.717897	1	0
PIK3CD	5293	broad.mit.edu	37	1	9787005	9787005	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:9787005G>A	ENST00000536656.1	+	24	3316	c.3108G>A	c.(3106-3108)ctG>ctA	p.L1036L	PIK3CD_ENST00000361110.2_Silent_p.L1036L|PIK3CD_ENST00000377346.4_Silent_p.L1012L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1012	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGCACTGAAGCACTTCC	0.557000													13	31					0	0	0.435327	0	0
MCHR2	84539	broad.mit.edu	37	6	100368869	100368869	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:100368869C>A	ENST00000281806.2	-	6	1284	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	MCHR2_ENST00000369212.1_Missense_Mutation_p.A324S|MCHR2_ENST00000445970.1_Missense_Mutation_p.A324S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	324						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCTCAGTCGCTCTTCTTTGG	0.423000													45	190					1.86633e-21	2.15452e-21	0.870114	1	0
CAPZA1	829	broad.mit.edu	37	1	113189888	113189888	+	Silent	SNP	A	A	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:113189888A>C	ENST00000263168.3	+	2	768	c.96A>C	c.(94-96)gtA>gtC	p.V32V	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	32					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAATGAAGTATTCAATGGTG	0.338000													56	87					0	0	0.870114	0	0
CFHR5	81494	broad.mit.edu	37	1	196967390	196967390	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:196967390C>G	ENST00000367414.5	+	7	1231	c.1175C>G	c.(1174-1176)tCa>tGa	p.S392*	CFHR5_ENST00000256785.4_Nonsense_Mutation_p.S368*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	368	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACAGGCACTCAGTCTGTATA	0.323000													14	49					0	0	0.457914	0	0
CORO2B	10391	broad.mit.edu	37	15	69011053	69011053	+	Silent	SNP	C	C	T	rs3751554	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:69011053C>T	ENST00000543950.1	+	9	1323	c.969C>T	c.(967-969)caC>caT	p.H323H	CORO2B_ENST00000540068.1_Silent_p.H323H|CORO2B_ENST00000566799.1_Silent_p.H328H|CORO2B_ENST00000261861.5_Silent_p.H323H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	328					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCAAGCACGGGCTGGATG	0.592000													7	40					0	0	0.248553	0	0
CEP19	84984	broad.mit.edu	37	3	196434583	196434583	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:196434583T>A	ENST00000409690.3	-	3	765	c.343A>T	c.(343-345)Aag>Tag	p.K115*	CEP19_ENST00000399942.4_Nonsense_Mutation_p.K76*	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	111						centriole|spindle pole				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						GCAAGCTCCTTGTCATCTAGT	0.398000													66	330					0	0	0.870114	0	0
MYH3	4621	broad.mit.edu	37	17	10543464	10543464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:10543464G>A	ENST00000583535.1	-	22	2618	c.2531C>T	c.(2530-2532)gCa>gTa	p.A844V	MYH3_ENST00000226209.7_Missense_Mutation_p.A844V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	844					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCAGTCTCTGCACTCTTGAG	0.468000													50	86					0	0	0.870114	0	0
ITPR1	3708	broad.mit.edu	37	3	4699938	4699938	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:4699938G>A	ENST00000302640.8	+	12	1432	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	ITPR1_ENST00000456211.2_Missense_Mutation_p.R361H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R376H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R376H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R376H|ITPR1_ENST00000443694.2_Missense_Mutation_p.R361H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	376	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACCACTCTGCGTGGAGGTGAC	0.493000													20	44					0	0	0.592651	0	0
UIMC1	51720	broad.mit.edu	37	5	176396609	176396609	+	Silent	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:176396609G>T	ENST00000377219.2	-	5	622	c.456C>A	c.(454-456)ctC>ctA	p.L152L	UIMC1_ENST00000511320.1_Silent_p.L152L|UIMC1_ENST00000377227.4_Silent_p.L152L|UIMC1_ENST00000506128.1_Silent_p.L152L	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	152	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCTTCAGTGAGCCCAGAGT	0.517000													23	22					1.36565e-18	1.54249e-18	0.639603	1	0
MRGPRD	116512	broad.mit.edu	37	11	68748063	68748063	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68748063G>C	ENST00000309106.3	-	1	392	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	131						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTGAACCAGATAGGGAAGA	0.577000													16	142					0	0	0.479597	0	0
KIF3C	3797	broad.mit.edu	37	2	26203523	26203523	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:26203523G>T	ENST00000264712.3	-	1	1843	c.1264C>A	c.(1264-1266)Cct>Act	p.P422T	KIF3C_ENST00000405914.1_Missense_Mutation_p.P422T	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	422					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCCTCAGGGTACCCAGGC	0.662000													56	175					2.53126e-37	2.98803e-37	0.870114	1	0
HMGA2	8091	broad.mit.edu	37	12	66221845	66221845	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:66221845G>T	ENST00000541363.1	+	2	549	c.176G>T	c.(175-177)aGt>aTt	p.S59I	HMGA2_ENST00000354636.3_Missense_Mutation_p.S59I|HMGA2_ENST00000403681.2_Missense_Mutation_p.S59I|HMGA2_ENST00000425208.2_Missense_Mutation_p.S59I|HMGA2_ENST00000536545.1_Missense_Mutation_p.S59I|HMGA2_ENST00000393578.3_Missense_Mutation_p.S59I|HMGA2_ENST00000393577.3_Missense_Mutation_p.S59I			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	59	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AAAAACAAGAGTCCCTCTAAA	0.463000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								17	70					4.14922e-12	4.5238e-12	0.500413	1	0
PRKCH	5583	broad.mit.edu	37	14	61857999	61857999	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:61857999C>T	ENST00000332981.5	+	2	805	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	140					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCGGGAGTTTCACTGAAGGTA	0.338000													28	86					0	0	0.760397	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234792	44234792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:44234792G>A	ENST00000330884.4	-	4	583	c.463C>T	c.(463-465)Cga>Tga	p.R155*	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Nonsense_Mutation_p.R155*	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	155					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AAGGTGCCTCGGTAGCTCATG	0.537000													20	69					0	0	0.608945	0	0
SLC34A3	142680	broad.mit.edu	37	9	140128317	140128317	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:140128317C>A	ENST00000538474.1	+	9	1073	c.849C>A	c.(847-849)acC>acA	p.T283T	SLC34A3_ENST00000361134.2_Silent_p.T283T	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	283					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCCCCAGACCCAGGAGAACA	0.687000													6	18					0.000274275	0.000285173	0.307466	1	0
BMP4	652	broad.mit.edu	37	14	54418769	54418769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:54418769C>T	ENST00000245451.4	-	3	565	c.172G>A	c.(172-174)Gag>Aag	p.E58K	BMP4_ENST00000417573.1_Missense_Mutation_p.E58K|BMP4_ENST00000558984.1_Missense_Mutation_p.E58K|BMP4_ENST00000559087.1_Missense_Mutation_p.E58K	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	58					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTGTCGCCTCGAAGTCCCGC	0.607000													29	81					0	0	0.729181	0	0
WWC2	80014	broad.mit.edu	37	4	184203868	184203868	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:184203868A>G	ENST00000403733.3	+	18	2891	c.2692A>G	c.(2692-2694)Atg>Gtg	p.M898V	WWC2_ENST00000513834.1_Missense_Mutation_p.M849V|WWC2_ENST00000508747.1_Missense_Mutation_p.M26V|WWC2_ENST00000504005.1_Missense_Mutation_p.M580V|WWC2_ENST00000448232.2_Missense_Mutation_p.M922V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	898										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TAGGCTAACAATGCTAAGAGA	0.413000													2	4					0	0	0.115264	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215951	37215951	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:37215951G>A	ENST00000233099.5	-	35	5844	c.5749C>T	c.(5749-5751)Cgt>Tgt	p.R1917C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1828C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1917							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAAAGGGCACGATTGGAATGC	0.358000													33	75					0	0	0.796494	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													4	145					0.184627	0.18701	0.184627	1	0
FBXO43	286151	broad.mit.edu	37	8	101153460	101153460	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:101153460A>T	ENST00000428847.2	-	2	1338	c.1022T>A	c.(1021-1023)tTg>tAg	p.L341*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	341					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATTTCTCCAAGCTAAGTGA	0.428000													45	150					0	0	0.847076	0	0
CAMKK2	10645	broad.mit.edu	37	12	121678561	121678561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:121678561G>A	ENST00000324774.5	-	17	2536	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P527S|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P570S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P570S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	570					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGAGCCGGGGGCGGGGGCC	0.711000													8	41					0	0	0.335167	0	0
SCO2	9997	broad.mit.edu	37	22	50962769	50962769	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962769C>T	ENST00000543927.1	-	2	278	c.72G>A	c.(70-72)ggG>ggA	p.G24G	SCO2_ENST00000395693.3_Silent_p.G24G|SCO2_ENST00000535425.1_Silent_p.G24G|SCO2_ENST00000252785.3_Silent_p.G24G	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	24					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCAGGGTCCCAGGGAGGA	0.652000													9	63					0	0	0.520397	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691022	88691022	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:88691022G>A	ENST00000301011.5	+	12	2111	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	ZC3H18_ENST00000452588.2_Silent_p.V661V	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	637	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGAAGTCAGTGAAGAAGCCGG	0.667000													13	37					0	0	0.435327	0	0
CSRNP1	64651	broad.mit.edu	37	3	39186502	39186502	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:39186502T>A	ENST00000273153.5	-	3	628	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.M151L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	151					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACTGCAGCATCTCCAACTTC	0.617000													27	39					0	0	0.740014	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239306	160239306	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:160239306T>A	ENST00000392783.2	-	25	4264	c.3769A>T	c.(3769-3771)Atc>Ttc	p.I1257F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1221F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1223F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1157F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCATGAATGATTCTGAGCCTT	0.398000													29	85					0	0	0.750413	0	0
VWA3A	146177	broad.mit.edu	37	16	22144336	22144336	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:22144336C>T	ENST00000389398.5	+	20	2084	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	663	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCCCGCTATGCCAGTCACACT	0.607000													3	33					0	0	0.115264	0	0
TMC4	147798	broad.mit.edu	37	19	54664094	54664094	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:54664094G>C	ENST00000376591.4	-	15	2219	c.2088C>G	c.(2086-2088)gtC>gtG	p.V696V	TMC4_ENST00000416963.1_Silent_p.V278V|TMC4_ENST00000301187.4_Silent_p.V690V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	696						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGCCAGGAAGACTTTATTCT	0.632000													42	176					0	0	0.827153	0	0
HILPDA	29923	broad.mit.edu	37	7	128097493	128097493	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:128097493C>G	ENST00000257696.4	+	2	372	c.171C>G	c.(169-171)gaC>gaG	p.D57E	RP11-155G14.5_ENST00000493710.1_RNA|HILPDA_ENST00000435296.2_Missense_Mutation_p.D57E|HILPDA_ENST00000481454.1_Intron	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HIG2_HUMAN	hypoxia inducible lipid droplet-associated	57					autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding										GCCTTCCAGACCATCCATCCA	0.542000													22	78					0	0	0.639603	0	0
GIPC2	54810	broad.mit.edu	37	1	78591604	78591604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:78591604G>A	ENST00000370759.3	+	5	947	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	252						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AAAGATTGATGATGTTCTTGA	0.294000													14	50					0	0	0.500413	0	0
TP63	8626	broad.mit.edu	37	3	189526081	189526081	+	Silent	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:189526081G>T	ENST00000264731.3	+	4	434	c.345G>T	c.(343-345)ggG>ggT	p.G115G	TP63_ENST00000456148.1_Silent_p.G21G|TP63_ENST00000354600.5_Silent_p.G21G|TP63_ENST00000320472.5_Silent_p.G115G|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Silent_p.G115G|TP63_ENST00000437221.1_Silent_p.G21G|TP63_ENST00000392460.3_Silent_p.G115G|TP63_ENST00000392463.2_Silent_p.G21G|TP63_ENST00000392461.3_Silent_p.G21G|TP63_ENST00000418709.2_Silent_p.G115G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	115					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGAACCTGGGGCTCCTGAACA	0.567000										HNSCC(45;0.13)			143	152					6.50729e-104	7.91973e-104	0.870114	1	0
KIF7	374654	broad.mit.edu	37	15	90176168	90176168	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90176168C>T	ENST00000394412.3	-	14	2854	c.2778G>A	c.(2776-2778)cgG>cgA	p.R926R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	926					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCGCCCGCCGCTGCTGTA	0.622000													17	19					0	0	0.520397	0	0
COL6A3	1293	broad.mit.edu	37	2	238253355	238253355	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253355C>G	ENST00000295550.4	-	36	7758	c.7306G>C	c.(7306-7308)Gag>Cag	p.E2436Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGTTGCTCTCAGCAATGGTC	0.557000													41	160					0	0	0.853193	0	0
RAB9B	51209	broad.mit.edu	37	X	103080242	103080242	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:103080242T>C	ENST00000243298.2	-	3	757	c.473A>G	c.(472-474)gAt>gGt	p.D158G		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	158					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CACATTAGTATCATCTTTGGC	0.473000													129	95					0	0	0.870114	0	0
OR2V2	285659	broad.mit.edu	37	5	180582306	180582306	+	Missense_Mutation	SNP	G	G	T	rs150156274	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:180582306G>T	ENST00000328275.1	+	1	364	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D122N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCTTATGACCGCTATGT	0.522000													59	72					1.77205e-36	2.0762e-36	0.870114	1	0
ZMYND8	23613	broad.mit.edu	37	20	45867756	45867756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:45867756G>A	ENST00000311275.7	-	15	2604	c.2351C>T	c.(2350-2352)aCg>aTg	p.T784M	ZMYND8_ENST00000461685.1_Missense_Mutation_p.T804M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T721M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T732M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T811M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T779M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T779M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	784							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GACGGTGACCGTGGAGGACGT	0.692000													36	93					0	0	0.859065	0	0
ZNF230	7773	broad.mit.edu	37	19	44514424	44514424	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:44514424G>A	ENST00000429154.2	+	5	461	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTTATAGGCGGCAAGACTATT	0.423000													3	59					0	0	0.115264	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160252611	160252611	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:160252611A>G	ENST00000264431.4	+	8	1432	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	338	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTGTGGGTAAATAATCACTTC	0.303000													22	63					0	0	0.639603	0	0
PSME1	5720	broad.mit.edu	37	14	24607452	24607452	+	Silent	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:24607452C>G	ENST00000382708.3	+	8	570	c.507C>G	c.(505-507)ggC>ggG	p.G169G	PSME1_ENST00000206451.6_Silent_p.G169G|PSME1_ENST00000559123.1_Silent_p.G10G|PSME1_ENST00000561435.1_Silent_p.G169G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCTAGAAGGCTTCCACACTC	0.473000													134	383					0	0	0.870114	0	0
COL7A1	1294	broad.mit.edu	37	3	48626135	48626135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:48626135G>A	ENST00000328333.8	-	19	2634	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.R843*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	843	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGTCACTCGCACTGAGTAG	0.617000													29	54					0	0	0.729181	0	0
CXADR	1525	broad.mit.edu	37	21	18937987	18937987	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr21:18937987A>G	ENST00000284878.7	+	7	1823	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000400169.1_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.S318G	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	359					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCCAGCACAGAGCAAGGATGG	0.458000													28	71					0	0	0.740014	0	0
SREBF1	6720	broad.mit.edu	37	17	17716991	17716991	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:17716991C>T	ENST00000355815.4	-	18	3253	c.3084G>A	c.(3082-3084)caG>caA	p.Q1028Q	SREBF1_ENST00000338854.5_Silent_p.Q998Q|SREBF1_ENST00000261646.5_Silent_p.Q998Q|SREBF1_ENST00000395757.1_Silent_p.Q744Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	998					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCTGGTGCCCTGGGCTGCTG	0.716000													2	2					0	0	0.115264	0	0
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	35					0	0	0.457914	0	0
IGLV3-21	28796	broad.mit.edu	37	22	23055518	23055518	+	RNA	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:23055518G>T	ENST00000390308.2	+	0	432																											GCCAGGCCAGGCCCCTGTGCT	0.592000													12	44					1.99824e-07	2.11975e-07	0.520397	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254048	30254048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:30254048C>T	ENST00000361644.2	+	5	744	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	MAGEB3_ENST00000378986.1_Missense_Mutation_p.R3W	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	3										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CATCATGCCTCGGGGTCAGAA	0.562000													24	23					0	0	0.654019	0	0
OGDH	4967	broad.mit.edu	37	7	44715628	44715628	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:44715628C>A	ENST00000222673.5	+	9	1128	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	OGDH_ENST00000439616.2_Silent_p.T212T|OGDH_ENST00000443864.2_Silent_p.T362T|OGDH_ENST00000543843.1_Silent_p.T313T|OGDH_ENST00000444676.1_Silent_p.T377T|OGDH_ENST00000447398.1_Silent_p.T373T|OGDH_ENST00000449767.1_Silent_p.T358T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	362					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATCGTGTCACCGACAGGAACA	0.552000													165	135					2.19381e-74	2.64945e-74	0.870114	1	0
CFAP54	144535	broad.mit.edu	37	12	97158907	97158907	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:97158907G>C	ENST00000524981.3	+	27	3545	c.3545G>C	c.(3544-3546)aGa>aCa	p.R1182T				Q6ZTY8	CL063_HUMAN		1156										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGAATACTAGAATGCATAAA	0.323000													37	113					0	0	0.834066	0	0
PRSS1	5644	broad.mit.edu	37	7	142460802	142460802	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:142460802G>A	ENST00000486171.1	+	6	734	c.717G>A	c.(715-717)aaG>aaA	p.K239K	PRSS1_ENST00000311737.7_Silent_p.K225K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	225	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAAGAACAAGCCTGGAGTCT	0.512000													9	202					0	0	0.307466	0	0
ADAM15	8751	broad.mit.edu	37	1	155025140	155025140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:155025140C>G	ENST00000531455.1	+	2	139	c.103C>G	c.(103-105)Cct>Gct	p.P35A	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000356955.2_Intron			Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	26					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGTCCTGGGACCTGCAGGTGG	0.617000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179476145	179476145	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179476145G>A	ENST00000589042.1	-	269	51035	c.50811C>T	c.(50809-50811)agC>agT	p.S16937S	TTN_ENST00000460472.2_Silent_p.S7872S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.S15296S|TTN_ENST00000342175.6_Silent_p.S8064S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.S7997S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S14369S|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15296							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)			CAGATGGCTCGCTGACACCAA	0.408000													24	89					0	0	0.667858	0	0
SYT5	6861	broad.mit.edu	37	19	55686278	55686278	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686278C>T	ENST00000354308.3	-	7	1167	c.798G>A	c.(796-798)ctG>ctA	p.L266L	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.L266L|SYT5_ENST00000590851.1_Silent_p.L262L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	266	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATCTTCTTCAGGTTTTTAG	0.577000													56	93					0	0	0.870114	0	0
CLEC11A	6320	broad.mit.edu	37	19	51227677	51227677	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:51227677G>C	ENST00000250340.4	+	3	542	c.345G>C	c.(343-345)ctG>ctC	p.L115L	CLEC11A_ENST00000599973.1_Silent_p.L115L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	115					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGGCCGCCTGGCCGGCCTGG	0.701000											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	24					0	0	0.387290	0	0
PDE5A	8654	broad.mit.edu	37	4	120528105	120528105	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:120528105G>T	ENST00000354960.3	-	2	819	c.500C>A	c.(499-501)gCc>gAc	p.A167D	PDE5A_ENST00000264805.5_Missense_Mutation_p.A125D|PDE5A_ENST00000394439.1_Missense_Mutation_p.A115D	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	167	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTGACATAAGGCTGTGACATC	0.428000													49	110					6.61955e-31	7.69829e-31	0.870114	1	0
ZNF710	374655	broad.mit.edu	37	15	90611606	90611606	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90611606G>A	ENST00000268154.4	+	2	1488	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CGTCGAGTGCGGCCTGGACTT	0.652000													17	66					0	0	0.654019	0	0
AE000661.37	0	broad.mit.edu	37	14	22948534	22948534	+	RNA	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:22948534G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRAJ56_ENST00000390483.1_RNA																							ATAGTAAGCTGACATTTGGAA	0.363000													16	78					0	0	0.608945	0	0
ESR1	2099	broad.mit.edu	37	6	152129446	152129446	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:152129446G>A	ENST00000440973.1	+	3	769	c.399G>A	c.(397-399)gaG>gaA	p.E133E	ESR1_ENST00000206249.3_Silent_p.E133E|ESR1_ENST00000456483.2_Silent_p.E133E|ESR1_ENST00000338799.5_Silent_p.E133E|ESR1_ENST00000443427.1_Silent_p.E133E|ESR1_ENST00000406599.1_Silent_p.E133E	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	133	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACTACCTGGAGAACGAGCCCA	0.736000													3	6					0	0	0.217242	0	0
PLK1	5347	broad.mit.edu	37	16	23700659	23700659	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:23700659C>T	ENST00000300093.4	+	8	1482	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	457	POLO box 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TAGAGCGTGACGGCACTGAGT	0.557000													43	81					0	0	0.840704	0	0
BRD4	23476	broad.mit.edu	37	19	15350543	15350543	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:15350543G>A	ENST00000263377.2	-	16	3593	c.3372C>T	c.(3370-3372)ccC>ccT	p.P1124P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1124					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGGCTGAAGGGCTCGCTGC	0.692000			T	C15orf55	lethal midline carcinoma of young people								29	31					0	0	0.769981	0	0
NCAPG2	54892	broad.mit.edu	37	7	158454900	158454900	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:158454900G>A	ENST00000409339.3	-	16	2088	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	NCAPG2_ENST00000541468.1_Silent_p.L160L|NCAPG2_ENST00000409423.1_Silent_p.L659L|NCAPG2_ENST00000356309.3_Silent_p.L659L|NCAPG2_ENST00000275830.10_Silent_p.L451L|NCAPG2_ENST00000449727.2_Silent_p.L659L			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	659					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATACTTTCAGATACTCTGGA	0.323000													20	50					0	0	0.575678	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696781	68696781	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68696781G>A	ENST00000255078.3	+	8	1302	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	397	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTGCATCCTGGCGGGCGATC	0.632000													167	390					0	0	0.870114	0	0
SF3A2	8175	broad.mit.edu	37	19	2248215	2248215	+	Silent	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2248215T>C	ENST00000221494.4	+	9	1483	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	355	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCCCCTGGGGTTCACC	0.736000													4	3					0	0	0.150653	0	0
TXN	7295	broad.mit.edu	37	9	113013678	113013678	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:113013678G>A	ENST00000374517.5	-	2	293	c.89C>T	c.(88-90)aCg>aTg	p.T30M	TXN_ENST00000374515.5_Missense_Mutation_p.T30M	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	30	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		CCCACACCACGTGGCTGAGAA	0.388000													16	45					0	0	0.575678	0	0
B4GALNT3	283358	broad.mit.edu	37	12	663005	663005	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:663005G>A	ENST00000266383.5	+	14	1929	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	639						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGACCTTCAGTGCCCGGAAT	0.542000													11	181					0	0	0.387290	0	0
MANBA	4126	broad.mit.edu	37	4	103578879	103578879	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:103578879T>C	ENST00000226578.4	-	12	1763	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	MANBA_ENST00000505239.1_Missense_Mutation_p.Y498C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	555					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CTGATATCCATATTCAGATGC	0.358000													33	105					0	0	0.804634	0	0
CEACAM4	1089	broad.mit.edu	37	19	42128134	42128134	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:42128134G>A	ENST00000221954.2	-	3	542	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CEACAM4_ENST00000600925.1_Silent_p.N144N	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	144						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGCCTGGGACGTTGTTTTCTG	0.602000													37	74					0	0	0.804634	0	0
PARD3	56288	broad.mit.edu	37	10	34671476	34671476	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:34671476A>C	ENST00000374789.3	-	9	1716	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PARD3_ENST00000346874.4_Missense_Mutation_p.L464R|PARD3_ENST00000374790.3_Missense_Mutation_p.L420R|PARD3_ENST00000374788.3_Missense_Mutation_p.L464R|PARD3_ENST00000545693.1_Missense_Mutation_p.L464R|PARD3_ENST00000374776.1_Missense_Mutation_p.L464R|PARD3_ENST00000544292.1_Missense_Mutation_p.L194R|PARD3_ENST00000350537.4_Missense_Mutation_p.L464R|PARD3_ENST00000374794.3_Missense_Mutation_p.L420R|PARD3_ENST00000340077.5_Missense_Mutation_p.L464R|PARD3_ENST00000545260.1_Missense_Mutation_p.L420R|PARD3_ENST00000374773.1_Missense_Mutation_p.L464R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	464	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCTTTCTTAAGCTGGATATT	0.393000													47	142					0	0	0.870114	0	0
OR2B6	26212	broad.mit.edu	37	6	27925495	27925495	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:27925495G>A	ENST00000244623.1	+	1	477	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGTGTGGTTGTCTACCCTGA	0.488000													44	103					0	0	0.840704	0	0
SH2D7	646892	broad.mit.edu	37	15	78393518	78393518	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:78393518C>T	ENST00000328828.5	+	5	923	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P172L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	308										endometrium(2)|kidney(2)|lung(3)	7						GACCAGGGTCCCACAGAGTCT	0.617000													8	26					0	0	0.307466	0	0
STAU1	6780	broad.mit.edu	37	20	47752436	47752436	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:47752436G>C	ENST00000371828.3	-	6	787	c.300C>G	c.(298-300)ctC>ctG	p.L100L	STAU1_ENST00000340954.7_Silent_p.L100L|STAU1_ENST00000347458.5_Silent_p.L100L|STAU1_ENST00000371792.1_Silent_p.L100L|STAU1_ENST00000360426.4_Silent_p.L100L|STAU1_ENST00000371802.1_Silent_p.L100L|STAU1_ENST00000371856.2_Silent_p.L181L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	181	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CAGATTTATTGAGATTTTCTT	0.343000													12	54					0	0	0.457914	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039213	184039213	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039213G>T	ENST00000342981.4	+	9	1255	c.841G>T	c.(841-843)Gca>Tca	p.A281S	EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTAATCTCGCAGTCCTCTC	0.552000													24	116					7.87624e-14	8.70824e-14	0.639603	1	0
NAV1	89796	broad.mit.edu	37	1	201778369	201778369	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:201778369C>T	ENST00000367296.4	+	21	4705	c.4285C>T	c.(4285-4287)Ccg>Tcg	p.P1429S	NAV1_ENST00000367300.3_Missense_Mutation_p.P1369S|NAV1_ENST00000367295.1_Missense_Mutation_p.P1035S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1421S|NAV1_ENST00000295624.6_Missense_Mutation_p.P1426S|NAV1_ENST00000367302.1_Missense_Mutation_p.P1382S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1429					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAGGATGCCCCCGCAGCACAT	0.507000													13	240					0	0	0.435327	0	0
KIAA1755	85449	broad.mit.edu	37	20	36850904	36850904	+	Silent	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:36850904G>T	ENST00000279024.4	-	10	2635	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	788										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCTGGCCAGGGTGGCTCCAC	0.637000											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	95					2.75727e-19	3.1369e-19	0.804634	1	0
GFPT1	2673	broad.mit.edu	37	2	69601183	69601183	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:69601183T>G	ENST00000357308.4	-	2	248	c.70A>C	c.(70-72)Atc>Ctc	p.I24L	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.I24L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	24	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGGCCTTTGATTAGGGTCTCC	0.323000													43	127					0	0	0.870114	0	0
SCO2	9997	broad.mit.edu	37	22	50962761	50962761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962761C>T	ENST00000543927.1	-	2	286	c.80G>A	c.(79-81)gGa>gAa	p.G27E	SCO2_ENST00000395693.3_Missense_Mutation_p.G27E|SCO2_ENST00000535425.1_Missense_Mutation_p.G27E|SCO2_ENST00000252785.3_Missense_Mutation_p.G27E	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	27					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGGCCTCCCAGGGTCCC	0.662000													10	60					0	0	0.520397	0	0
CDH23	64072	broad.mit.edu	37	10	73553321	73553321	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:73553321C>A	ENST00000224721.6	+	47	6656	c.6651C>A	c.(6649-6651)gtC>gtA	p.V2217V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2212	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACATTGTCGGCATTGTGG	0.567000													18	43					3.52763e-06	3.71703e-06	0.520397	1	0
MTF2	22823	broad.mit.edu	37	1	93602313	93602313	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:93602313C>A	ENST00000370298.4	+	15	1800	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	MTF2_ENST00000545708.1_Missense_Mutation_p.P402Q|MTF2_ENST00000370303.4_Missense_Mutation_p.P447Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.P402Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	504						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GGTCGTCTTCCAAGAAGAGCA	0.408000													43	111					5.59293e-11	6.05579e-11	0.827153	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530937	80530937	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:80530937A>G	ENST00000295057.3	-	2	664	c.8T>C	c.(7-9)tTc>tCc	p.F3S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.F3S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCAGCAGGAAATCCATTAG	0.562000										HNSCC(69;0.2)			19	59					0	0	0.624587	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390209	93390209	+	Silent	SNP	G	G	A	rs35287022	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:93390209G>A	ENST00000238994.5	-	2	513	c.429C>T	c.(427-429)acC>acT	p.T143T		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	143	Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TTAAGTAATCGGTTGAAGGCT	0.433000													48	125					0	0	0.870114	0	0
TNS3	64759	broad.mit.edu	37	7	47385791	47385791	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:47385791G>C	ENST00000398879.1	-	18	2811	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	TNS3_ENST00000311160.9_Silent_p.V815V|TNS3_ENST00000355730.3_Silent_p.V575V			Q68CZ2	TENS3_HUMAN	tensin 3	815						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATACCTCTTTGACGTCCGCTG	0.592000													26	101					0	0	0.769981	0	0
MED14	9282	broad.mit.edu	37	X	40571488	40571488	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:40571488G>T	ENST00000324817.1	-	7	957	c.839C>A	c.(838-840)tCt>tAt	p.S280Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	280	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAGCCTAGACTGCACCAG	0.408000													115	104					3.62976e-74	4.35016e-74	0.870114	1	0
AGT	183	broad.mit.edu	37	1	230846411	230846411	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:230846411G>C	ENST00000366667.4	-	2	400	c.186C>G	c.(184-186)ccC>ccG	p.P62P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	62					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGGGTCTTTGGGCTTCCCGG	0.567000													8	103					0	0	0.361761	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													9	105					0	0	0.361761	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463950	66463950	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66463950C>G	ENST00000533211.1	-	21	4407	c.4076G>C	c.(4075-4077)aGa>aCa	p.R1359T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1359T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1359T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1359					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGCAGGTCTCTCAGCTTCTC	0.587000													75	236					0	0	0.870114	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039214	184039214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039214C>T	ENST00000342981.4	+	9	1256	c.842C>T	c.(841-843)gCa>gTa	p.A281V	EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTAATCTCGCAGTCCTCTCT	0.547000													24	114					0	0	0.624587	0	0
NALCN	259232	broad.mit.edu	37	13	101759854	101759854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr13:101759854G>A	ENST00000251127.6	-	22	2644	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	855						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R855*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCGTGCTCGGACCACCACC	0.507000													60	68					0	0	0.870114	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424000	47424000	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:47424000G>A	ENST00000404338.3	+	1	2068	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	690					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGCCGGCGGGATAATCATTT	0.463000													10	30					0	0	0.335167	0	0
SMO	6608	broad.mit.edu	37	7	128852282	128852282	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:128852282C>T	ENST00000249373.3	+	12	2634	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	785					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGCAGACTCGGACTTCTGA	0.607000			Mis		skin basal cell								26	102					0	0	0.717897	0	0
GLI4	2738	broad.mit.edu	37	8	144358773	144358773	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:144358773C>T	ENST00000340042.1	+	4	1015	c.930C>T	c.(928-930)ctC>ctT	p.L310L	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.L310L	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	310						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCGTGCTCATCGAGCACC	0.667000													7	11					0	0	0.248553	0	0
MYO6	4646	broad.mit.edu	37	6	76527375	76527375	+	Silent	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:76527375A>G	ENST00000369981.3	+	2	390	c.111A>G	c.(109-111)aaA>aaG	p.K37K	MYO6_ENST00000369977.3_Silent_p.K37K|MYO6_ENST00000369975.1_Silent_p.K37K|MYO6_ENST00000369985.4_Silent_p.K37K			Q9UM54	MYO6_HUMAN	myosin VI	37	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGAATCAGAAAGGCAAGGTGA	0.403000													23	98					0	0	0.681144	0	0
C8A	731	broad.mit.edu	37	1	57349161	57349161	+	Missense_Mutation	SNP	C	C	T	rs139740733		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:57349161C>T	ENST00000361249.3	+	6	758	c.662C>T	c.(661-663)gCa>gTa	p.A221V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	221	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGGCCCTGGCAGATACTGGA	0.338000													11	104					0	0	0.457914	0	0
COL6A3	1293	broad.mit.edu	37	2	238253401	238253401	+	Silent	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253401C>G	ENST00000295550.4	-	36	7712	c.7260G>C	c.(7258-7260)cgG>cgC	p.R2420R	COL6A3_ENST00000353578.4_Silent_p.R2214R|COL6A3_ENST00000347401.3_Silent_p.R2219R|COL6A3_ENST00000346358.4_Silent_p.R2220R|COL6A3_ENST00000409809.1_Silent_p.R2214R|COL6A3_ENST00000472056.1_Silent_p.R1813R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2420	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCTCGCATCCGGCCGAAAG	0.567000													57	173					0	0	0.870114	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261028	67261028	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:67261028G>A	ENST00000356404.3	-	22	3420	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	PITPNM1_ENST00000534749.1_Silent_p.V1065V|PITPNM1_ENST00000436757.2_Silent_p.V1064V|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1065					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCGGCCTGTGACATACACGA	0.687000													10	7					0	0	0.411799	0	0
HPS3	84343	broad.mit.edu	37	3	148889972	148889972	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:148889972A>G	ENST00000296051.2	+	17	3118	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C	HPS3_ENST00000460120.1_Missense_Mutation_p.Y828C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	993						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTTGCCATATCTTCTCTAT	0.343000									Hermansky-Pudlak syndrome				44	57					0	0	0.853193	0	0
SYT5	6861	broad.mit.edu	37	19	55686277	55686277	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686277T>C	ENST00000354308.3	-	7	1168	c.799A>G	c.(799-801)Aag>Gag	p.K267E	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.K267E|SYT5_ENST00000590851.1_Missense_Mutation_p.K263E	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	267	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCATCTTCTTCAGGTTTTTA	0.582000													58	93					0	0	0.870114	0	0
WDFY3	23001	broad.mit.edu	37	4	85731060	85731060	+	Silent	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:85731060T>A	ENST00000322366.6	-	14	2732	c.2325A>T	c.(2323-2325)gtA>gtT	p.V775V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.V775V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	775						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCTGTGGCTACTTTGTAAA	0.363000													29	75					0	0	0.740014	0	0
USP34	9736	broad.mit.edu	37	2	61597672	61597672	+	Silent	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:61597672A>G	ENST00000398571.2	-	9	1195	c.1119T>C	c.(1117-1119)aaT>aaC	p.N373N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	373					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTCCACCACATTGTTGCTAA	0.303000													29	86					0	0	0.788014	0	0
DISP2	85455	broad.mit.edu	37	15	40659622	40659622	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:40659622C>A	ENST00000267889.3	+	8	1396	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	437					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAAGTACAGCCTGCTCTTCCT	0.582000													148	595					8.23634e-74	9.79625e-74	0.870114	1	0
PDE3A	5139	broad.mit.edu	37	12	20833104	20833104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:20833104C>T	ENST00000359062.3	+	16	3365	c.3325C>T	c.(3325-3327)Cag>Tag	p.Q1109*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1109					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAGACCCCTCAGTCGCACTC	0.488000													39	119					0	0	0.827153	0	0
ROR1	4919	broad.mit.edu	37	1	64515514	64515514	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:64515514C>T	ENST00000371079.1	+	3	690	c.315C>T	c.(313-315)ctC>ctT	p.L105L	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.L105L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	105	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCGGAGGCTCTCCTTTCGGT	0.572000													55	181					0	0	0.870114	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540069	133540069	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:133540069T>C	ENST00000409261.1	-	14	4688	c.4315A>G	c.(4315-4317)Aca>Gca	p.T1439A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1439A|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1439							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTACTGCTTGTTTCAAAAGTG	0.572000													25	63					0	0	0.654019	0	0
ZNF644	84146	broad.mit.edu	37	1	91403466	91403473	+	Frame_Shift_Del	DEL	TTTTTCTT	TTTTTCTT	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:91403466_91403473delTTTTTCTT	ENST00000370440.1	-	4	3474_3481	c.3257_3264delAAGAAAAA	c.(3256-3264)gfs	p.EEK1086fs	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Del_p.EEK1086fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	1086					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTTTCATATTTTTCTTCATTTTGCAT	0.346													59	254	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596778	228596779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:228596778_228596779insC	ENST00000456946.2	-	6	1352_1353	c.977_978insG	c.(976-978)gtcfs	p.V326fs	TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CACTTGTAGAACCCCCCCCATT	0.569													16	57	---	---	---	---					
CELSR3	1951	broad.mit.edu	37	3	48685381	48685382	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:48685381_48685382insG	ENST00000544264.1	-	21	7316_7317	c.7036_7037insC	c.(7036-7038)tcgfs	p.S2346fs	CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.S2341fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCGG	0.629													7	232	---	---	---	---					
LINC01010	154092	broad.mit.edu	37	6	134819231	134819231	+	RNA	DEL	T	T	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:134819231delT	ENST00000431422.1	+	0	275				RP11-557H15.3_ENST00000417483.1_lincRNA	NR_038217.1|NR_038218.1																						Ccctttcttctttccttcctt	0.358													2	4	---	---	---	---					
PNPLA8	50640	broad.mit.edu	37	7	108112931	108112935	+	Frame_Shift_Del	DEL	CTTGA	CTTGA	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:108112931_108112935delCTTGA	ENST00000426128.2	-	10	2198_2202	c.2073_2077delTCAAG	c.(2071-2079)agaafs	p.SQE691fs	PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.SQE653fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.SQE691fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	753					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTTGTTTTTTCTTGACTTAATATTT	0.288													10	59	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24831690	24831691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:24831690_24831691insT	ENST00000376451.2	+	13	2912_2913	c.2652_2653insT	c.(2650-2655)gatccafs	p.P885fs	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.P885fs|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.P1166fs|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1202fs			Q5T5P2	SKT_HUMAN	KIAA1217	1202					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAATGGAATTCCAAAAGGT	0.426													22	44	---	---	---	---					
MASTL	84930	broad.mit.edu	37	10	27459203	27459208	+	In_Frame_Del	DEL	GGGAAA	GGGAAA	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:27459203_27459208delGGGAAA	ENST00000375946.4	+	8	1918_1923	c.1315_1320delGGGAAA	c.(1315-1320)del	p.GK439del	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_In_Frame_Del_p.GK439del|MASTL_ENST00000375940.4_In_Frame_Del_p.GK439del	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	439	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGCACCTTGGGAAAAGAAGTTTAA	0.340													13	105	---	---	---	---					
CCDC83	220047	broad.mit.edu	37	11	85627150	85627150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:85627150delT	ENST00000280245.4	+	11	1559	c.1047delT	c.(1045-1047)cafs	p.H349fs	CCDC83_ENST00000376067.1_Frame_Shift_Del_p.H218fs|CCDC83_ENST00000342404.3_Frame_Shift_Del_p.H318fs	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	318										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTATCTTACATCTTAGTCATG	0.383													61	111	---	---	---	---					
SIK2	23235	broad.mit.edu	37	11	111571666	111571667	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:111571666_111571667insG	ENST00000304987.3	+	5	708_709	c.535_536insG	c.(535-537)cccfs	p.P179fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	179	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ATGGTGTGGCAGCCCCCCTTAT	0.431													20	76	---	---	---	---					
LIG3	3980	broad.mit.edu	37	17	33331461	33331462	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:33331461_33331462insGC	ENST00000378526.4	+	20	3099_3100	c.2966_2967insGC	c.(2965-2967)ccafs	p.P989fs		NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	989	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTGCGGCCCAGCAGGTCTCCC	0.569								Other BER factors					32	203	---	---	---	---					
PTRH2	51651	broad.mit.edu	37	17	57775075	57775076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:57775075_57775076insA	ENST00000470557.2	-	1	3710_3711	c.264_265insT	c.(262-267)cactgcfs	p.C89fs	PTRH2_ENST00000537860.1_Frame_Shift_Ins_p.C89fs|PTRH2_ENST00000409433.2_Frame_Shift_Ins_p.C90fs|PTRH2_ENST00000393038.2_Frame_Shift_Ins_p.C89fs			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAACAGCAGCATGAGAGCACT	0.475													68	243	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60345216	60345217	+	RNA	INS	-	-	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:60345216_60345217insT	ENST00000581291.1	-	0	846																				breast(2)|kidney(1)|lung(2)	5						ATGCAGAACACTGGGCGGTGTC	0.619													14	44	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.4	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)del	p.PAPGVHP360del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742													4	9	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2341094	2341102	+	RNA	DEL	CTCCCTGGA	CTCCCTGGA	-	rs76166147		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2341094_2341102delCTCCCTGGA	ENST00000452401.2	+	0	1033				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCCTGCCCTCCCTGGAGGCCGCCCCA	0.703													4	3	---	---	---	---					
SLC2A4RG	56731	broad.mit.edu	37	20	62372799	62372801	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:62372799_62372801delCTT	ENST00000266077.2	+	3	410_412	c.358_360delCTT	c.(358-360)del	p.L121del	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	121				SPLLL -> KPSPS (in Ref. 1; AAF97516).		cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L120F(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGCCCTCTCCTTCTGGGGGCCC	0.650													9	86	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885754	29885777	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGAAGAAGCA	AAGTCCCCAGTGAAGGAAGAAGCA	-	rs139600064	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENST00000310624.6	+	4	2158_2181	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	c.(2125-2148)del	p.KSPVKEEA709del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	715	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.E715K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTG	0.562													8	266	---	---	---	---					
FLNA	2316	broad.mit.edu	37	X	153599568	153599569	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:153599568_153599569insCG	ENST00000422373.1	-	2	293_294	c.45_46insCG	c.(43-48)gcctccfs	p.S16fs	FLNA_ENST00000369850.3_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.S16fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	16	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGGAGCCGCGCCTGCTG	0.718													8	8	---	---	---	---