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
ZMYM3	9203	broad.mit.edu	37	X	70471027	70471027	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	uc004dzh.2	-	4	957	c.778_splice	c.e4+1	p.I260_splice	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Splice_Site_p.I260_splice|ZMYM3_uc004dzj.2_Splice_Site_p.I260_splice|ZMYM3_uc011mpu.2_Splice_Site|ZMYM3_uc004dzl.4_Splice_Site_p.I260_splice	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	260					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532000													65	15					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	uc001gvv.3	-	3	760	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	178					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.G178V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612000													3	69					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230128	39230128	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:39230128C>T	uc003cjk.2	-	1	1038	c.809G>A	c.(808-810)cGc>cAc	p.R270H	XIRP1_uc003cji.3_Missense_Mutation_p.R270H|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R270H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	270							actin binding	p.R270H(2)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGAGCCAGCGGGCAGACCT	0.677000													42	73					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	uc001pgp.3	+	4	499	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_uc001pgo.3_Nonstop_Mutation_p.*100L|C11orf70_uc001pgq.3_Nonsense_Mutation_p.E118*	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343000													17	191					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968943	5968943	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:5968943G>T	uc003zjq.4	-	2	1504	c.1288C>A	c.(1288-1290)Ctt>Att	p.L430I		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	430								p.L430I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGACCCTTAAGTAGCCACACT	0.383000													5	32					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	uc010qzs.2	+	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453000													6	256					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189856917	189856917	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:189856917G>A	uc002uqj.1	+	13	1076	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	COL3A1_uc010frw.1_Non-coding_Transcript	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	320	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R320Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGGGTGCTCGGGGTAATGAC	0.378000													30	190					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10277647	10277647	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:10277647G>A	uc002wnq.2	+	5	568	c.356G>A	c.(355-357)cGt>cAt	p.R119H	SNAP25_uc002wnr.2_Missense_Mutation_p.R119H|SNAP25_uc002wns.2_Missense_Mutation_p.R56H|SNAP25_uc010gca.2_Missense_Mutation_p.R119H	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	119					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.R119H(3)|p.R119C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CAGCCTGCTCGTGTAGTGGAC	0.517000													34	49					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42513409	42513409	+	Splice_Site	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:42513409C>T	uc002rsi.3	+	10	1274	c.1012_splice	c.e10-1	p.P338_splice	EML4_uc010fap.3_Splice_Site_p.P280_splice|EML4_uc002rsj.3_Missense_Mutation_p.P27S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	338					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.P338S(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTTTTGCAGCCTCTACAACC	0.443000			T	ALK	NSCLC								73	116					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	uc001sti.2	+	11	2798	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	924					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Y924H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532000													43	99					0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72949181	72949181	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:72949181C>A	uc002jmj.4	-	16	2121	c.1972_splice	c.e16-1	p.E658_splice	C17orf28_uc002jmi.3_Splice_Site_p.E60_splice|C17orf28_uc010wrs.2_Splice_Site_p.E457_splice	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	658						integral to membrane|plasma membrane	protein binding	p.E658*(1)		endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGCTGGGCTCCTGGCCCCCA	0.672000													3	13					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848144	56848144	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:56848144C>T	uc001slh.3	-	0	292	c.254G>A	c.(253-255)cGt>cAt	p.R85H		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	85					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.R85H(2)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCAGAAGGCACGGAGCAGGGA	0.597000													34	46					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	C	T	rs1045121	by1000genomes	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr15:79051880C>T	uc002bej.4	-	23	5155	c.4944G>A	c.(4942-4944)acG>acA	p.T1648T		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1648	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1648T(8)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGGCGCAGCGTCTCGCAGA	0.697000													4	16					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	uc001pga.3	+	3	665	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_uc009ywv.2_Missense_Mutation_p.Y54S|CNTN5_uc001pfz.3_Missense_Mutation_p.Y54S|CNTN5_uc021qpb.1_Missense_Mutation_p.Y54S|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	54					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y54S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428000													5	188					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439357	14439357	+	RNA	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr21:14439357C>G	uc002yja.4	+	9		c.2875C>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGAATCAGCTCAATCAATCGC	0.279000													2	3					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	uc003yqt.3	-	8	812	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ANXA13_uc003yqu.3_Nonsense_Mutation_p.R206*	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	206					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.R247*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448000													9	404					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	uc021oiw.1	+	14	1907	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_uc001bix.3_Nonsense_Mutation_p.Y559*|GRHL3_uc021oix.1_Nonsense_Mutation_p.Y513*|GRHL3_uc001biy.3_Nonsense_Mutation_p.Y564*|GRHL3_uc001biz.3_Nonsense_Mutation_p.Y466*	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	559					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498000													3	51					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54791832	54791832	+	Silent	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	uc003xrp.3	+	1	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RGS20_uc003xrq.3_Intron|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.3_5'Flank|RGS20_uc003xrt.3_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	60					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A60A(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597000													88	166					0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	uc003krh.3	-	0	313	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.P52L	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	5					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607000													81	92					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000													3	11					0	0	1	0	0
TIMM22	29928	broad.mit.edu	37	17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	uc002fsc.3	+	0	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	69					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	p.C69*(2)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662000													3	47					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	uc003xyg.2	+	5	1088	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_uc010lza.1_Missense_Mutation_p.N176S|SULF1_uc003xyd.2_Missense_Mutation_p.N176S|SULF1_uc003xye.2_Missense_Mutation_p.N176S|SULF1_uc003xyf.2_Missense_Mutation_p.N176S	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	176					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.N176S(2)|p.R175C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTTGTCGCAATGGCATCAAA	0.388000													16	293					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	uc002kuw.3	+	5	1405	c.953T>C	c.(952-954)aTg>aCg	p.M318T	TTC39C_uc002kuu.3_Missense_Mutation_p.M257T	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	318							binding	p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398000													71	47					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118441315	118441315	+	Silent	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr10:118441315G>T	uc001lct.3	-	7	1014	c.909C>A	c.(907-909)tcC>tcA	p.S303S	HSPA12A_uc001lcu.3_Silent_p.S220S	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	303							ATP binding	p.S924S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCTCCAGCTCGGACCAGATTT	0.478000											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	73					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14757889	14757889	+	Silent	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:14757889C>G	uc010dlo.2	+	4	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.V231V	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	231								p.V231V(3)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGTTGACGTCTTTGCTGAAG	0.378000													3	65					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70767813	70767813	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	uc004eaa.2	+	4	826	c.588T>G	c.(586-588)aaT>aaG	p.N196K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N186K|OGT_uc004eac.3_Missense_Mutation_p.N57K|OGT_uc004ead.3_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378000													9	189					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	uc021vsy.1	-	7	1514	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_uc021vsz.1_Missense_Mutation_p.V430D|TTN_uc021vta.1_Missense_Mutation_p.V430D|TTN_uc021vtb.1_Missense_Mutation_p.V430D|TTN_uc002unb.2_Missense_Mutation_p.V430D|TTN_uc010frg.1_Missense_Mutation_p.V104D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	430	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430D(8)		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)			AACGGCAGCAACAACAGTCGC	0.458000													9	151					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	uc002gci.3	-	16	4724	c.4169T>C	c.(4168-4170)aTa>aCa	p.I1390T	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Missense_Mutation_p.I1346T|NLRP1_uc002gck.3_Missense_Mutation_p.I1346T|NLRP1_uc002gcj.3_Missense_Mutation_p.I1360T|NLRP1_uc002gcl.3_Missense_Mutation_p.I1316T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1390	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.I1390T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582000													3	93					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	uc003uon.3	-	0	447	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_uc011kim.1_Missense_Mutation_p.V80E	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	80					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V80E(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612000													22	58					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	uc003bwx.3	+	6	1493	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	PPARG_uc003bwr.3_Missense_Mutation_p.T440A|PPARG_uc003bws.3_Missense_Mutation_p.T440A|PPARG_uc003bwu.3_Missense_Mutation_p.T440A|PPARG_uc003bwv.3_3'UTR	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	468	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.T468A(2)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCAGAAAATGACAGACCTCAG	0.522000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						3	101					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760066	54760066	+	Silent	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	uc010yer.1	-	3	579	c.468C>A	c.(466-468)acC>acA	p.T156T	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.T165T|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.T165T|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	165	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557000													57	105					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600348	3600348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:3600348C>T	uc002lyg.2	-	1	672	c.285G>A	c.(283-285)tgG>tgA	p.W95*	TBXA2R_uc021umv.1_Nonsense_Mutation_p.W95*	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	95					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.W95*(2)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCACGGCGTGCCACTCGAAGA	0.672000													3	50					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	uc002hve.3	-	0	186	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	42	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.G42V(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557000													5	67					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202486	140202486	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:140202486C>T	uc003lhl.2	+	0	1126	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R376C|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R376C	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	392	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R376S(2)|p.R376C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCTGACCGTGACTCAGG	0.542000													14	186					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145150822	145150822	+	Silent	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	uc003zaz.4	+	1	259	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CYC1_uc003zay.3_Silent_p.A13A	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	72					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.A72A(3)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20751288	20751288	+	Silent	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr4:20751288G>A	uc021xmt.1	-	4	546	c.426C>T	c.(424-426)ttC>ttT	p.F142F	KCNIP4_uc003gqe.2_Silent_p.F125F|KCNIP4_uc003gqf.1_Silent_p.F121F|KCNIP4_uc003gqg.1_Silent_p.F80F|KCNIP4_uc003gqh.1_Silent_p.F117F|KCNIP4_uc003gqi.1_Silent_p.F80F|KCNIP4_uc021xmu.1_Silent_p.F108F|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Silent_p.F105F	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	142	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	p.F121F(2)|p.F108F(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGCTTACCTCGAAACTCACAG	0.358000													22	85					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52827241	52827241	+	Missense_Mutation	SNP	G	G	A	rs149044360		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:52827241G>A	uc001ctq.2	-	3	413	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	CC2D1B_uc001cts.3_5'Flank	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	88								p.R88W(2)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						tccACATCCCGCATACAGTCT	0.587000													4	93					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	uc002xbu.2	+	2	493	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	164					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R164G(2)|p.W163*(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGAAGTGGAGGCAAAAACA	0.552000													4	121					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474613	102474613	+	Silent	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	uc001yks.2	+	28	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1972	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S1972S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537000													38	51					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	uc022aye.1	-	0	2151	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_uc003yfz.3_Missense_Mutation_p.Q717H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	717							RNA binding|nucleotide binding	p.Q717H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627000													145	235					0	0	1	0	0
TCF15	6939	broad.mit.edu	37	20	585299	585299	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:585299C>A	uc002wdz.3	-	1	565	c.536G>T	c.(535-537)cGt>cTt	p.R179L		NM_004609	NP_004600	Q12870	TCF15_HUMAN	Homo sapiens transcription factor 15 (basic helix-loop-helix) (TCF15), mRNA.	179					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R179L(2)		autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CCCCAGGTCACGACGGCCACC	0.607000													2	3					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35450217	35450217	+	RNA	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:35450217C>T	uc010mko.3	+	10		c.1627C>T			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		GGTTTGAATGCGGTGTAGAAA	0.373000													3	63					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9912815	9912815	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	uc004csu.1	+	8	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_uc004csv.2_Silent_p.P316P|SHROOM2_uc011mic.1_Silent_p.P317P|SHROOM2_uc004csw.1_Silent_p.P317P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1482	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P1482P(2)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647000													3	42					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849827	156849827	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:156849827C>T	uc001fqh.1	+	15	2139	c.2083C>T	c.(2083-2085)Ccg>Tcg	p.P695S	NTRK1_uc001fqf.1_Missense_Mutation_p.P659S|NTRK1_uc009wsi.1_Missense_Mutation_p.P394S|NTRK1_uc001fqi.1_Missense_Mutation_p.P689S|NTRK1_uc009wsk.1_Missense_Mutation_p.P692S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	695	Protein kinase.		P -> L (in CIPA).		Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P695S(5)|p.P659S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCGCTGGATGCCGCCCGAGAG	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			4	96					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	64000258	64000258	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:64000258C>A	uc001nyt.3	+	3	874	c.451C>A	c.(451-453)Cac>Aac	p.H151N	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Missense_Mutation_p.H150N|DNAJC4_uc001nyu.3_Missense_Mutation_p.H150N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	150					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	p.H150N(1)|p.H109N(1)		endometrium(1)|lung(1)|prostate(1)	3						GCAGCAGCAACACAAACAAAA	0.607000													3	107					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													7	29					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	uc009vrj.3	-	6	1036	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	RUNX3_uc001bjq.3_Missense_Mutation_p.R250C|RUNX3_uc010oen.2_Missense_Mutation_p.R197C|RUNX3_uc001bjr.3_Missense_Mutation_p.R264C|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	250	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637000													5	202					0	0	1	0	0
C14orf101	54916	broad.mit.edu	37	14	57114085	57114085	+	Missense_Mutation	SNP	C	C	T	rs147042249		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:57114085C>T	uc001xcm.3	+	15	2116	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Missense_Mutation_p.S198L|C14orf101_uc001xco.3_Missense_Mutation_p.S198L	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	665						integral to membrane		p.S665L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GTGCTGTTATCGGAAACCATC	0.478000													10	126					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417720	169417720	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:169417720delT	uc002uec.1	+	2	419	c.295delT	c.(295-297)ttgfs	p.L99fs	CERS6_uc002ueb.1_Frame_Shift_Del_p.L99fs	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	99						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAAAAGAGATTGGAAGGCCT	0.428													14	250	---	---	---	---					
GPR64	10149	broad.mit.edu	37	X	19026198	19026199	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	uc004cyx.3	-	18	1707_1708	c.1465_1466insA	c.(1465-1467)attfs	p.I489fs	GPR64_uc004cze.3_Frame_Shift_Ins_p.I459fs|GPR64_uc004cza.3_Frame_Shift_Ins_p.I467fs|GPR64_uc004czf.3_Frame_Shift_Ins_p.I451fs|GPR64_uc004cyy.3_Frame_Shift_Ins_p.I486fs|GPR64_uc004czc.3_Frame_Shift_Ins_p.I473fs|GPR64_uc004cyz.3_Frame_Shift_Ins_p.I475fs|GPR64_uc004czb.3_Frame_Shift_Ins_p.I489fs|GPR64_uc004czd.3_Frame_Shift_Ins_p.I465fs|GPR64_uc004cyw.3_Frame_Shift_Ins_p.I473fs|GPR64_uc010nfj.3_Intron	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	489					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391													91	23	---	---	---	---					
