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
SPANXE	171489	broad.mit.edu	37	X	140785743	140785743	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	uc004fbq.3	-	1	266	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	58						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483000													21	203					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	uc010dgl.3	-	9	1716	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_uc010dgk.3_Missense_Mutation_p.E476Q|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	503					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647000								Other identified genes with known or suspected DNA repair function					43	71					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121828209	121828209	+	Silent	SNP	A	A	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	uc003eet.3	+	4	929	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_uc011bjo.2_Silent_p.L185L|CD86_uc011bjp.2_Silent_p.L155L|CD86_uc003eeu.3_Silent_p.L261L|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	267					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTCTAATTCTATGGAAATGGA	0.458000													51	92					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	uc011bal.1	-	2	396	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_uc003cpb.4_Missense_Mutation_p.S95L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	95	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498000													38	89					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864267	50864267	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:50864267C>T	uc002prx.3	-	4	652	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	200					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CATCGGGGGCCGAACTCCTTC	0.537000													29	57					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020750	32020750	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr6:32020750C>T	uc003nzl.2	-	25	9008	c.8806G>A	c.(8806-8808)Gcc>Acc	p.A2936T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2983	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTGGGGGCGGGAGTTTCT	0.642000													23	47					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255754	155255754	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	uc001fjz.1	+	6	1485	c.1477_splice	c.e6+1	p.E493_splice	HCN3_uc010pfz.1_Splice_Site_p.E188_splice	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	493						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647000													54	114					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209025	19209025	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:19209025C>T	uc021wle.1	-	16	2746	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	CLTCL1_uc021wld.1_Missense_Mutation_p.E891K|CLTCL1_uc021wlc.1_Missense_Mutation_p.E891K|CLTCL1_uc021wlf.1_Missense_Mutation_p.E891K|CLTCL1_uc011agw.1_Missense_Mutation_p.E891K	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	891	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGAAGCACTCGGGGCTGTTG	0.577000			T	?	ALCL								4	15					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345262	2345262	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	uc002lvs.3	+	13	1365	c.1285G>C	c.(1285-1287)Gcc>Ccc	p.A429P	SPPL2B_uc002lvr.3_Missense_Mutation_p.A429P	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	430						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)		GCTGCTGGTGGCCTACTGCCA	0.667000													30	50					0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66122963	66122963	+	RNA	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:66122963C>T	uc002jgq.3	+	5		c.2086C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GCTCGGGGGACAGGTCAGTGC	0.483000													48	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648886	179648886	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:179648886C>T	uc021vsy.1	-	15	2911	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	TTN_uc021vsz.1_Missense_Mutation_p.V850I|TTN_uc021vta.1_Missense_Mutation_p.V850I|TTN_uc021vtb.1_Missense_Mutation_p.V850I|TTN_uc002unb.2_Missense_Mutation_p.V896I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	896							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V850I(3)|p.V896I(2)		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)			TTCACCTCAACGCCAGCTTCA	0.547000													43	92					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893185	76893185	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	uc001oyb.2	+	23	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_uc010rsl.2_Silent_p.D1031D|MYO7A_uc010rsm.1_Silent_p.D1020D|MYO7A_uc001oyc.2_Silent_p.D1031D|MYO7A_uc001oyd.3_Silent_p.D371D|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.D242D	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1031	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.D1031N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602000													5	118					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113332905	113332905	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:113332905C>G	uc002thw.2	+	14	3587	c.3007C>G	c.(3007-3009)Cgc>Ggc	p.R1003G	POLR1B_uc010fkn.2_Missense_Mutation_p.R947G|POLR1B_uc002thx.2_Missense_Mutation_p.R864G|POLR1B_uc010fko.2_Missense_Mutation_p.R820G|POLR1B_uc010fkp.2_Missense_Mutation_p.R442G|POLR1B_uc002thy.2_Missense_Mutation_p.R864G|POLR1B_uc010yxo.1_Missense_Mutation_p.R780G	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	1003					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCAGCGCTTACGCCATATGGT	0.478000													18	40					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:125377695C>T	uc011lyy.2	+	0	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537000													10	129					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	uc003fjk.3	+	4	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	62					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538288	4538288	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	uc002mau.3	-	1	719	c.708G>A	c.(706-708)ccG>ccA	p.P236P	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	236						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587000													43	418					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181439	57181439	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:57181439G>T	uc003hbk.2	+	7	2162	c.1771G>T	c.(1771-1773)Gtt>Ttt	p.V591F	KIAA1211_uc010iha.2_Missense_Mutation_p.V584F|KIAA1211_uc011bzz.1_Missense_Mutation_p.V501F|KIAA1211_uc003hbm.1_Missense_Mutation_p.V477F	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	591										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCCTGAGCGTTCCCCACAC	0.672000													12	19					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	uc011dcy.2	+	11	2027	c.2000C>A	c.(1999-2001)aCa>aAa	p.T667K	GRIA1_uc003lva.4_Missense_Mutation_p.T657K|GRIA1_uc003luy.4_Missense_Mutation_p.T657K|GRIA1_uc003luz.4_Missense_Mutation_p.T562K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.T577K|GRIA1_uc011dcx.2_Missense_Mutation_p.T588K|GRIA1_uc011dcz.2_Missense_Mutation_p.T667K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	657					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502000													13	39					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985025	985025	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	uc003gcb.3	-	2	845	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_uc003gbx.3_Missense_Mutation_p.G156E|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.G156E	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	156						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687000													23	32					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	uc002ukj.3	+	0	366	c.296C>T	c.(295-297)cCc>cTc	p.P99L		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	99						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448000													36	65					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	uc003dsi.1	+	0	880	c.880T>C	c.(880-882)Tac>Cac	p.Y294H		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y294*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378000													16	35					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:37027200A>C	uc004ddl.2	+	0	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637000													3	54					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622147	64622147	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	uc010rnq.1	-	5	1352	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	EHD1_uc021qkz.1_Silent_p.P104P|EHD1_uc001obu.1_Silent_p.P421P|EHD1_uc001obv.1_Silent_p.P421P	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	421				D -> H (in Ref. 1; AAB81204).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667000													13	147					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104742131	104742131	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	uc021rcx.1	+	17	1904	c.1882_splice	c.e17-1	p.V628_splice	TXNRD1_uc021rcy.1_Splice_Site_p.V530_splice|TXNRD1_uc021rcz.1_Splice_Site_p.V478_splice|TXNRD1_uc021rda.1_Splice_Site_p.V478_splice|TXNRD1_uc021rdb.1_Splice_Site_p.V478_splice|TXNRD1_uc010swp.2_Splice_Site_p.V440_splice|TXNRD1_uc010swq.2_Splice_Site_p.V528_splice|TXNRD1_uc001tku.3_Splice_Site|TXNRD1_uc009zun.3_Splice_Site_p.V544_splice	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	628					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCCCCTGCAGGTATTCACAAC	0.498000													63	119					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	uc002otk.1	+	8	753	c.701T>C	c.(700-702)aTt>aCt	p.I234T		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	234						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552000													11	81					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543401	23543401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:23543401C>A	uc002nre.3	-	3	2493	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Nonsense_Mutation_p.G762*	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	794						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTCTCTCCAGTGTGTATC	0.383000													22	60					0	0	1	0	0
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	uc001bvt.2	-	2	1455	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	SYNC_uc010ohl.1_Missense_Mutation_p.Y452C|RBBP4_uc001bvr.3_3'UTR|RBBP4_uc001bvs.3_3'UTR|RBBP4_uc010ohj.2_3'UTR|RBBP4_uc010ohk.2_3'UTR	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433000													133	186					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945111	22945111	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	uc001yus.3	+	11	1286	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_uc001yut.3_Silent_p.A394A|CYFIP1_uc010aya.1_Silent_p.A422A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	394					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706000													11	16					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24789053	24789053	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:24789053G>A	uc001wow.3	-	20	3047	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	ADCY4_uc010toh.2_Silent_p.F562F|ADCY4_uc001wox.3_Silent_p.F876F|ADCY4_uc001woy.3_Silent_p.F876F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	876					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACTGAGGCGAAGAGGACAC	0.498000													27	64					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520472	40520472	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:40520472G>A	uc002oms.2	+	6	1551	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	ZNF546_uc002omt.2_Missense_Mutation_p.R406H	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCGACATCGTAGAATTCAT	0.388000													16	9					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060921	189060921	+	Missense_Mutation	SNP	G	G	A	rs112281664		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:189060921G>A	uc003izm.1	+	0	324	c.209G>A	c.(208-210)cGt>cAt	p.R70H		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	70					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACGAGCGTCTGGGGAGG	0.617000													43	59					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	uc003avs.1	-	1	1376	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	KCNJ4_uc003avt.1_Missense_Mutation_p.R427C|KCNJ4_uc021wpp.1_Missense_Mutation_p.R427C	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	427					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692000													65	129					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516373	102516373	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:102516373C>T	uc002cdi.3	+	10	2119	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P432P(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGAGGGGCCCGGAGGAGCCT	0.662000													4	18					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:3443797C>G	uc003ghc.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc010icw.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													3	54					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000													4	34					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	uc002lcy.3	-	10	1545	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_uc002lcz.3_Missense_Mutation_p.S433G|SMAD2_uc010xdc.2_Missense_Mutation_p.S403G	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	433	MH2.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413000													18	10					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000													6	184					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	uc002hrm.2	-	11	1344	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	CACNB1_uc002hrl.1_Missense_Mutation_p.Q151R|CACNB1_uc002hrn.3_Missense_Mutation_p.Q379R|CACNB1_uc002hro.3_Missense_Mutation_p.Q424R	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	379					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542000													61	123					0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	uc002xva.3	-	3	386	c.341C>T	c.(340-342)tCa>tTa	p.S114L	TMEM189-UBE2V1_uc002xvf.3_Missense_Mutation_p.S337L|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Missense_Mutation_p.S70L|TMEM189-UBE2V1_uc002xvd.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_uc002xve.3_Missense_Mutation_p.S137L	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GATGCTATATGAATTCTGCCA	0.423000													26	35					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	uc003cmv.3	-	5	1292	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_uc011azs.2_Missense_Mutation_p.N374S|ANO10_uc003cmw.3_Missense_Mutation_p.N308S|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Missense_Mutation_p.N263S	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	374					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453000													18	34					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:44116470A>C	uc002ikc.3	-	8	2786	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_uc002ikd.3_Missense_Mutation_p.L772R|KANSL1_uc010dav.3_Missense_Mutation_p.L772R|KANSL1_uc010wkb.2_Missense_Mutation_p.L103R|KANSL1_uc010wkc.2_Intron	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	772						MLL1 complex	protein binding										TGGTGGGTTGAGCAAGCGCTC	0.592000													35	82					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000													8	182					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000													5	71					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													8	54	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:100855927delG	uc003uyd.3	-	8	1345	c.889delC	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642													7	99	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:114271580_114271582delCAG	uc003vhb.3	+	6	972	c.598_splice	c.e6-1	p.Q200_splice	FOXP2_uc003vgu.3_Splice_Site|FOXP2_uc003vgz.3_Splice_Site_p.Q225_splice|FOXP2_uc003vha.3_Splice_Site_p.Q108_splice|FOXP2_uc011kmv.2_Intron|FOXP2_uc011kmu.2_Splice_Site_p.Q217_splice|FOXP2_uc010ljz.2_Splice_Site_p.Q108_splice|FOXP2_uc003vgt.2_Splice_Site|FOXP2_uc003vgv.1_Splice_Site_p.Q200_splice|FOXP2_uc003vgx.2_Splice_Site_p.Q200_splice|FOXP2_uc003vhc.3_Splice_Site_p.Q225_splice|FOXP2_uc003vhd.3_Splice_Site_p.Q200_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	200	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													2	4	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:59750796_59750798delCTT	uc003xtw.1	-	4	987_989	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													9	223	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	-	-	rs61752959	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													4	3	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	13	---	---	---	---					
DOCK9	23348	broad.mit.edu	37	13	99457438	99457438	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr13:99457438delT	uc001vnt.2	-	50	5634	c.5579delA	c.(5578-5580)aagfs	p.K1860fs	DOCK9_uc001vnw.2_Frame_Shift_Del_p.K1859fs|DOCK9_uc021rlw.1_Frame_Shift_Del_p.K1861fs|DOCK9_uc001vnq.2_Frame_Shift_Del_p.K409fs|DOCK9_uc001vnr.2_Frame_Shift_Del_p.K491fs|DOCK9_uc010tin.1_Frame_Shift_Del_p.K480fs|DOCK9_uc001vns.2_Frame_Shift_Del_p.K397fs|DOCK9_uc010tio.1_Frame_Shift_Del_p.K517fs|DOCK9_uc010tip.1_Frame_Shift_Del_p.K558fs	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1862	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTATGCATACTTAGAATCCAG	0.438													2	4	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	TGC	TGC	rs41550117		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:89876827_89876828insTGC	uc002bns.4	-	1	440_441	c.158_159insGCA	c.(157-159)caa>caGCAa	p.53_53Q>QQ	POLG_uc002bnr.4_In_Frame_Ins_p.53_53Q>QQ|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	53	Poly-Gln.				DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)					8	25	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:67913767_67913769delCAG	uc002eur.3	+	15	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	EDC4_uc010cer.3_In_Frame_Del_p.S236del|EDC4_uc010vkg.1_In_Frame_Del_p.S549del|EDC4_uc002eus.3_In_Frame_Del_p.S347del|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	91	---	---	---	---					
PBX4	80714	broad.mit.edu	37	19	19729403	19729403	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:19729403delG	uc002nmy.3	-	0	323	c.36delC	c.(34-36)cccfs	p.P12fs	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	12							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gccgcggggcggggggcgatg	0.766													2	4	---	---	---	---					
