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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RYR1	6261	broad.mit.edu	37	19	38974129	38974129	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:38974129T>C	uc002oit.3	+	32	5037	c.4907T>C	c.(4906-4908)aTg>aCg	p.M1636T	RYR1_uc002oiu.3_Missense_Mutation_p.M1636T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1636	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGACCATGATGGCGCTGCAC	0.687000														4			3		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136474	40136474	+	Missense_Mutation	SNP	C	T	T	rs138717868		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:40136474C>T	uc021qgf.1	-	0	1369	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	LRRC4C_uc001mxc.1_Missense_Mutation_p.V453I|LRRC4C_uc001mxd.1_Missense_Mutation_p.V453I|LRRC4C_uc001mxa.1_Missense_Mutation_p.V457I|LRRC4C_uc001mxb.1_Missense_Mutation_p.V453I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	457					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCTACTGTGACGGTTGAAAAG	0.493000														51			29		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32408205	32408205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:32408205G>A	uc004dda.1	-	30	4571	c.4327C>T	c.(4327-4329)Cag>Tag	p.Q1443*	DMD_uc004dcw.2_Nonsense_Mutation_p.Q99*|DMD_uc004dcx.2_Nonsense_Mutation_p.Q102*|DMD_uc004dcz.2_Nonsense_Mutation_p.Q1320*|DMD_uc004dcy.1_Nonsense_Mutation_p.Q1439*|DMD_uc004ddb.1_Nonsense_Mutation_p.Q1435*|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1443	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACATCAATCTGAGACAGGACT	0.388000														19			13		0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171619	106171619	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:106171619G>T	uc022ccd.1	+	0	161	c.161G>T	c.(160-162)tGt>tTt	p.C54F	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.C54F|CLDN2_uc022ccc.1_Missense_Mutation_p.C54F|CLDN2_uc004emt.2_Missense_Mutation_p.C54F	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	54					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGATGGAATGTGCCACACAC	0.567000														19			67		8.70839e-23	1.00956e-22	1	1	0
PKN2	5586	broad.mit.edu	37	1	89298451	89298451	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:89298451G>A	uc001dmn.3	+	19	2929	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	PKN2_uc010osp.2_Missense_Mutation_p.E847K|PKN2_uc010osq.2_Missense_Mutation_p.E706K|PKN2_uc009wcv.3_Missense_Mutation_p.E815K|PKN2_uc010osr.2_Missense_Mutation_p.E528K	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	863	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATGATGAAGAGGAAGTTTT	0.338000														66			24		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787500	167787500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:167787500G>A	uc001ger.3	-	30	4590	c.4292C>T	c.(4291-4293)gCc>gTc	p.A1431V	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.A1278V|ADCY10_uc009wvk.3_Missense_Mutation_p.A1339V	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1431					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGAAGTCTGGCATACCTGCA	0.383000														17			22		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211435	72211435	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211435G>C	uc003xyu.3	-	8	1313	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	EYA1_uc003xyt.4_Missense_Mutation_p.Q192E|EYA1_uc003xyr.4_Missense_Mutation_p.Q220E|EYA1_uc010lzf.3_Missense_Mutation_p.Q152E|EYA1_uc003xys.4_Missense_Mutation_p.Q225E|EYA1_uc011lfe.2_Missense_Mutation_p.Q219E|EYA1_uc003xyv.3_Missense_Mutation_p.Q103E	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	225					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTGCGTACTGACCCTGGCCA	0.448000														303			31		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151266281	151266281	+	Splice_Site	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:151266281C>G	uc003lut.3	-	3	539	c.252_splice	c.e3+1	p.M84_splice	GLRA1_uc003lur.3_Splice_Site_p.M84_splice|GLRA1_uc003lus.3_Splice_Site_p.M1_splice	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	84					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTTACTCACCATGGTTGTC	0.468000														54			30		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360574	145360574	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:145360574G>C	uc021oul.1	+	73	9234	c.9199G>C	c.(9199-9201)Gat>Cat	p.D3067H	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3067										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)		GGAGCTGCTGGATGAGAAAGG	0.483000														28			4		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113664682	113664682	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:113664682G>C	uc001tux.3	+	2	415	c.241G>C	c.(241-243)Gtg>Ctg	p.V81L	TPCN1_uc001tuw.3_Missense_Mutation_p.V9L	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	9						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGATGACGACGTGCCGCTCAT	0.542000														76			13		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30791879	30791879	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:30791879T>G	uc010xbr.1	-	18	2361	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	C18orf34_uc010dme.1_Missense_Mutation_p.K254T|C18orf34_uc002kxn.2_Missense_Mutation_p.K740T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K702T|C18orf34_uc002kxp.3_Missense_Mutation_p.K740T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	740										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTGAAGAGTTTTTTGTCTTAC	0.323000														1			13		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60582692	60582692	+	Splice_Site	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:60582692C>A	uc002ybs.3	-	6	1885	c.1885_splice	c.e6-1	p.D629_splice		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	629	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATTTTTCCATCCTTAAAAATA	0.393000														100			4		0.150653	0.151812	1	1	0
EYA1	2138	broad.mit.edu	37	8	72211333	72211333	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211333G>C	uc003xyu.3	-	8	1415	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	EYA1_uc003xyt.4_Missense_Mutation_p.Q226E|EYA1_uc003xyr.4_Missense_Mutation_p.Q254E|EYA1_uc010lzf.3_Missense_Mutation_p.Q186E|EYA1_uc003xys.4_Missense_Mutation_p.Q259E|EYA1_uc011lfe.2_Missense_Mutation_p.Q253E|EYA1_uc003xyv.3_Missense_Mutation_p.Q137E	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	259					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCGGTTCTTGAAGCTGGTAA	0.458000														324			11		0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69995079	69995079	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:69995079C>G	uc001svb.1	+	15	1676	c.1582C>G	c.(1582-1584)Cgt>Ggt	p.R528G	CCT2_uc010stl.1_Missense_Mutation_p.R481G	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	528					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCATAGGAAACGTGTCCCTGA	0.358000														56			35		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080033	152080033	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:152080033C>G	uc009wne.1	-	2	5932	c.5660G>C	c.(5659-5661)cGc>cCc	p.R1887P	TCHH_uc001ezp.2_Missense_Mutation_p.R1887P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1887	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCTGGCGGCGGATGTG	0.557000														392			102		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41801438	41801438	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:41801438G>C	uc010lxb.3	-	13	2600	c.2056C>G	c.(2056-2058)Ctg>Gtg	p.L686V	KAT6A_uc010lxc.3_Missense_Mutation_p.L686V|KAT6A_uc003xon.4_Missense_Mutation_p.L686V|KAT6A_uc010lxd.3_Missense_Mutation_p.L686V	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	686	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AGACGACCCAGATCAGATAAC	0.393000														59			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211356	72211356	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211356G>A	uc003xyu.3	-	8	1392	c.752C>T	c.(751-753)tCc>tTc	p.S251F	EYA1_uc003xyt.4_Missense_Mutation_p.S218F|EYA1_uc003xyr.4_Missense_Mutation_p.S246F|EYA1_uc010lzf.3_Missense_Mutation_p.S178F|EYA1_uc003xys.4_Missense_Mutation_p.S251F|EYA1_uc011lfe.2_Missense_Mutation_p.S245F|EYA1_uc003xyv.3_Missense_Mutation_p.S129F	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	251					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S251F(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGCATTGGTGGATGGTGTCGT	0.478000														338			11		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832787	101832787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:101832787G>A	uc001pgm.3	+	5	1291	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	KIAA1377_uc001pgn.3_Missense_Mutation_p.E297K|KIAA1377_uc010run.2_Missense_Mutation_p.E142K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E142K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	341							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCCTTCATGGGAATATTTTAA	0.323000														172			10		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195998	172195998	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:172195998A>G	uc010zdo.2	-	3	443	c.302T>C	c.(301-303)tTc>tCc	p.F101S	METTL8_uc002ugu.4_Missense_Mutation_p.F101S|METTL8_uc002ugt.4_Missense_Mutation_p.F101S|METTL8_uc002ugs.4_Missense_Mutation_p.F51S|METTL8_uc010zdp.2_Missense_Mutation_p.F56S	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	101							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						ACGATCCTTGAAAAACTTATT	0.323000														58			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211296	72211296	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211296G>C	uc003xyu.3	-	8	1452	c.812C>G	c.(811-813)aCa>aGa	p.T271R	EYA1_uc003xyt.4_Missense_Mutation_p.T238R|EYA1_uc003xyr.4_Missense_Mutation_p.T266R|EYA1_uc010lzf.3_Missense_Mutation_p.T198R|EYA1_uc003xys.4_Missense_Mutation_p.T271R|EYA1_uc011lfe.2_Missense_Mutation_p.T265R|EYA1_uc003xyv.3_Missense_Mutation_p.T149R	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	271					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTGGGATCTGTAACTGCTTG	0.438000														266			17		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337870	28337870	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr21:28337870G>A	uc002ymg.3	-	0	1570	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	281	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A280V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCATACAACCGCGCCATGGAC	0.682000														17			12		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30741037	30741037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr22:30741037C>T	uc003ahl.3	-	3	668	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SF3A1_uc021wnt.1_Missense_Mutation_p.R114H	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	179					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CAGAAACTGGCGCCCATTCCT	0.532000														88			58		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480585	25480585	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr13:25480585C>G	uc001upt.4	-	6	1844	c.1591G>C	c.(1591-1593)Ggg>Cgg	p.G531R	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	531					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGGCCGGCCCTGTTGAAAGA	0.453000														92			26		0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231094024	231094024	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:231094024C>T	uc001huf.4	-	2	430	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TTC13_uc001hug.4_Missense_Mutation_p.E130K|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Intron	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	130							binding	p.A129S(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTCTTCTGTTCTGCAATAGAC	0.333000														48			3		0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48500908	48500908	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:48500908T>C	uc002lez.3	+	1	240	c.134T>C	c.(133-135)cTt>cCt	p.L45P	ELAC1_uc010dpe.3_Missense_Mutation_p.L45P|SMAD4_uc010xdo.1_Non-coding_Transcript	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA.	45					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CAGACACAGCTTATGAAAAGC	0.483000														15			42		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155165884	155165884	+	Silent	SNP	C	T	T	rs146591443		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:155165884C>T	uc001fix.3	-	21	2811	c.2706G>A	c.(2704-2706)gcG>gcA	p.A902A	THBS3_uc021pat.1_Silent_p.A299A|THBS3_uc010pfu.2_Silent_p.A782A|THBS3_uc009wqi.3_Silent_p.A893A|THBS3_uc001fiy.3_Silent_p.A431A	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	902	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			CCCCAGAATCCGCCACAAGCT	0.527000														193			14		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518563	129518563	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:129518563G>A	uc011muv.2	-	0	949	c.859C>T	c.(859-861)Cga>Tga	p.R287*		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	287						integral to membrane|plasma membrane	lipid binding	p.V286L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGCTGCAGTCGCACCTCCTTC	0.582000														35			20		0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391463	18391463	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:18391463T>C	uc002nip.2	-	0	970	c.832A>G	c.(832-834)Aac>Gac	p.N278D	MIR3188_uc021uqm.1_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	Homo sapiens jun D proto-oncogene (JUND), mRNA.	278					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GCGATGCGGTTGCGCAGCCGC	0.662000														23			8		0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474054	145474054	+	Silent	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:145474054C>G	uc021ouy.1	+	0	726	c.726C>G	c.(724-726)ctC>ctG	p.L242L	ANKRD34A_uc001enq.1_Silent_p.L242L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	242	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAAACCACTCAAAAGGCTCA	0.607000														270			98		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34687642	34687642	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:34687642G>A	uc002nvb.4	+	2	585	c.389G>A	c.(388-390)gGg>gAg	p.G130E	LSM14A_uc002nva.4_Missense_Mutation_p.G130E|LSM14A_uc010xru.2_Missense_Mutation_p.G130E	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	130					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.G130W(1)|p.V129G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCCTTAGTTGGGCAGCAGTTT	0.413000														259			31		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61938923	61938923	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:61938923G>T	uc011aau.2	+	5	678	c.578G>T	c.(577-579)aGt>aTt	p.S193I	COL20A1_uc011aav.2_Missense_Mutation_p.S14I	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	193	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATTGGCCACAGTCACTTCCAG	0.667000														83			22		4.16121e-05	4.39612e-05	1	1	0
CLN8	2055	broad.mit.edu	37	8	1719225	1719225	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:1719225A>G	uc003wpo.4	+	1	310	c.5A>G	c.(4-6)aAt>aGt	p.N2S		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	2					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGGACAATGAATCCTGCGAGC	0.557000														61			33		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689068	153689068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:153689068G>A	uc004flm.3	+	1	718	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	182	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCACCTTGAGCTCCCGCAAG	0.597000														96			14		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113470497	113470497	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr13:113470497C>G	uc001vsj.4	+	5	630	c.542C>G	c.(541-543)gCc>gGc	p.A181G	ATP11A_uc001vsi.4_Missense_Mutation_p.A181G|ATP11A_uc001vsm.1_Missense_Mutation_p.A57G	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	181					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTCACCACCGCCAGCTTGGAT	0.562000														73			15		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915076	176915076	+	Silent	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:176915076C>G	uc001glc.3	-	12	2447	c.2235G>C	c.(2233-2235)ctG>ctC	p.L745L	ASTN1_uc001glb.1_Silent_p.L745L|ASTN1_uc001gld.1_Silent_p.L745L|ASTN1_uc009wwx.1_Silent_p.L745L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	753					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGTTCCTTTCAGCACCTGTC	0.448000														448			26		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455429	29455429	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:29455429A>G	uc011dlq.2	-	0	251	c.251T>C	c.(250-252)cTg>cCg	p.L84P		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	84						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAGGGAGACCAGCACAGCCTT	0.517000														136			10		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025211	86025211	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86025211G>T	uc003ycw.3	+	3	629	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.D48Y|LRRCC1_uc010maa.2_5'UTR|LRRCC1_uc003ycy.3_Missense_Mutation_p.D121Y	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	141					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAGATATATTGATCTACATAG	0.348000														177			40		6.1244e-12	6.79912e-12	1	1	0
ZFP28	140612	broad.mit.edu	37	19	57065333	57065333	+	Silent	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:57065333T>C	uc002qnj.3	+	7	1250	c.1179T>C	c.(1177-1179)caT>caC	p.H393H	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGAAAGTTCATAATCGTGATT	0.318000														28			12		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5751795	5751795	+	Silent	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:5751795G>A	uc002mda.3	+	11	1186	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CATSPERD_uc010duj.1_Silent_p.A33A	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	375						integral to membrane											ATATCCAGGCGCTTCTCATGG	0.453000														22			15		0	0	1	0	0
C11orf46	120534	broad.mit.edu	37	11	30352518	30352518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:30352518G>A	uc001mso.1	+	1	187	c.23G>A	c.(22-24)gGa>gAa	p.G8E		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	8										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						TGTTCAGTTGGAGTCCAGCTT	0.368000														38			10		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616407	116616407	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:116616407G>A	uc003yny.3	-	3	2367	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S	TRPS1_uc011lhy.2_Missense_Mutation_p.P588S|TRPS1_uc003ynz.3_Missense_Mutation_p.P584S|TRPS1_uc010mcy.3_Missense_Mutation_p.P584S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	584					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGCAAACGGATAAGTAATT	0.468000									Langer-Giedion syndrome					10			15		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367018	12367018	+	Silent	SNP	G	A	A	rs141538541	byFrequency	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr18:12367018G>A	uc002kqz.2	-	4	692	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	166					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTTCTCTCCCGGATCTCTTGA	0.438000														102			36		0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2343291	2343291	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:2343291A>C	uc004cqf.4	-	1	213	c.164T>G	c.(163-165)aTt>aGt	p.I55S		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	55							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAATAGCCAATGCCATCTGT	0.418000														221			29		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150748969	150748969	+	Silent	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150748969T>C	uc003wio.2	+	6	1655	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	ASIC3_uc003win.2_Silent_p.Y429Y|ASIC3_uc003wip.2_Silent_p.Y429Y|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	429					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGGCCTATGAGATGTCAG	0.587000														138			5		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625248	43625248	+	Silent	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr9:43625248G>A	uc011lrb.2	-	3	3468	c.3439C>T	c.(3439-3441)Ctg>Ttg	p.L1147L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1147						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TTTGATGGCAGTAGCTGGACG	0.428000														118			4		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217476	150217476	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150217476G>T	uc003whk.3	+	1	544	c.414G>T	c.(412-414)gaG>gaT	p.E138D	GIMAP7_uc022apu.1_Missense_Mutation_p.E138D	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	138							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGTTGGAGGGCCAGAGCT	0.512000														53			16		5.35267e-07	5.74754e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769799	57769799	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:57769799C>T	uc002yan.3	+	0	3725	c.3725C>T	c.(3724-3726)gCg>gTg	p.A1242V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1242						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGGGCCGGCGCAGATGTCC	0.592000														42			10		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465272	1465272	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:1465272C>T	uc002lsr.1	+	14	2180	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	APC2_uc002lss.1_Missense_Mutation_p.R240C|APC2_uc002lst.1_Missense_Mutation_p.R658C|APC2_uc002lsu.1_Missense_Mutation_p.R657C|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	658					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCGCAGCGCCCGTGACCAGGA	0.657000														10			9		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813510	214813510	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:214813510A>C	uc001hkm.3	+	11	2003	c.1829A>C	c.(1828-1830)gAa>gCa	p.E610A		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	610					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGAATATGAAGAATTGAAA	0.323000														24			7		0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954352	64954352	+	Silent	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr14:64954352G>A	uc001xhf.3	-	2	780	c.597C>T	c.(595-597)ccC>ccT	p.P199P	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Silent_p.P199P	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	199						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGGAAACTGGGGGCTTCTGGT	0.572000														158			106		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947382	145947382	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:145947382G>T	uc003zdv.4	-	4	1919	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTCCAGCGCAGAATGAGATTT	0.488000														118			26		1.80694e-10	1.97258e-10	1	1	0
C4orf19	55286	broad.mit.edu	37	4	37591786	37591786	+	Missense_Mutation	SNP	G	A	A	rs111504567		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:37591786G>A	uc003gsw.4	+	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C4orf19_uc003gsy.4_Missense_Mutation_p.D37N	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	37										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGATGAAGACGACACTGATAA	0.458000														250			64		0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														32			3		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094916	150094916	+	Silent	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:150094916C>T	uc003whf.1	+	2	1472	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	LOC728743_uc003whg.3_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATCTGCAACGAGTGCGGCA	0.736000														15			3		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160281796	160281796	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:160281796C>T	uc001fvv.4	-	10	1332	c.938G>A	c.(937-939)gGt>gAt	p.G313D	COPA_uc009wti.3_Missense_Mutation_p.G313D|COPA_uc009wtj.1_Missense_Mutation_p.G259D	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	313					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAATCATACCACCATCATG	0.448000														46			138		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507446	76507446	+	Silent	SNP	G	A	A	rs147023916		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:76507446G>A	uc021qno.1	+	0	786	c.786G>A	c.(784-786)tcG>tcA	p.S262S	TSKU_uc001oxt.3_Silent_p.S262S	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	262						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGACCTGTCGGGCAACCCCA	0.652000														259			17		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887313	47887313	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:47887313C>G	uc003cru.3	+	9	1489	c.1063C>G	c.(1063-1065)Ctc>Gtc	p.L355V	DHX30_uc003crt.3_Missense_Mutation_p.L316V|DHX30_uc010hjr.1_Missense_Mutation_p.L383V	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	355						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGAGCCCATCCTCCGCAAGAT	0.592000														63			14		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130842043	130842043	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:130842043G>A	uc001uik.3	+	13	1881	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K	PIWIL1_uc001uij.2_Missense_Mutation_p.R537K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	537					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.R537K(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGGATGACAGAACTGAAGCC	0.423000														65			3		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473470	56473470	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:56473470G>C	uc002qmh.3	+	3	2151	c.2080G>C	c.(2080-2082)Gac>Cac	p.D694H	NLRP8_uc010etg.3_Missense_Mutation_p.D694H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	694						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGTGGCAAGACTTATGCTC	0.483000														142			21		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848905	117848905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr9:117848905C>T	uc004bjj.4	-	2	1517	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	TNC_uc010mvf.3_Missense_Mutation_p.G369S|TNC_uc022bmj.1_Missense_Mutation_p.G369S	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	369	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGTCCACACCGGCAAAGCCC	0.597000														101			17		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61768563	61768563	+	Silent	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:61768563C>T	uc003xue.3	+	32	7458	c.6966C>T	c.(6964-6966)aaC>aaT	p.N2322N	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2322					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTTAGACAACATCTGTGAAG	0.418000														42			6		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139881	33139881	+	Splice_Site	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:33139881C>T	uc003ocx.1	-	41	3217	c.2989_splice	c.e41-1	p.G997_splice	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Splice_Site_p.G911_splice|COL11A2_uc003ocz.1_Splice_Site_p.G890_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	997	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGTCCACCCTATGAACCAG	0.567000														384			31		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537498	55537498	+	Silent	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:55537498T>C	uc003xsd.1	+	3	1204	c.1056T>C	c.(1054-1056)acT>acC	p.T352T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	352					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAACTACTGTCAGTAAAA	0.348000														175			14		0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86519507	86519507	+	Silent	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:86519507G>C	uc021qok.1	+	0	822	c.822G>C	c.(820-822)ggG>ggC	p.G274G	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.G242G|PRSS23_uc001pcb.3_Silent_p.G274G	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	274					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCTGCCAGGGGGCAGAATTC	0.488000														151			4		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512967	161512967	+	Silent	SNP	T	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:161512967T>A	uc001gar.3	-	4	892	c.708A>T	c.(706-708)tcA>tcT	p.S236S	FCGR3A_uc001gas.3_Silent_p.S235S|FCGR3A_uc001gat.4_Silent_p.S200S|FCGR3A_uc009wuh.3_Silent_p.S199S|FCGR3A_uc009wui.3_Silent_p.S200S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	200					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAGAATGATGAGATGGTTG	0.423000														381			8		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839934	71839934	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:71839934C>G	uc010fen.3	+	38	4526	c.4385C>G	c.(4384-4386)cCa>cGa	p.P1462R	DYSF_uc010fei.3_Missense_Mutation_p.P1461R|DYSF_uc010feh.3_Missense_Mutation_p.P1430R|DYSF_uc002sig.4_Missense_Mutation_p.P1430R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1475R|DYSF_uc010fee.3_Missense_Mutation_p.P1444R|DYSF_uc010fef.3_Missense_Mutation_p.P1461R|DYSF_uc002sie.3_Missense_Mutation_p.P1444R|DYSF_uc010feo.3_Missense_Mutation_p.P1476R|DYSF_uc010fej.3_Missense_Mutation_p.P1431R|DYSF_uc010fel.3_Missense_Mutation_p.P1431R|DYSF_uc010fem.3_Missense_Mutation_p.P1445R|DYSF_uc002sif.3_Missense_Mutation_p.P1445R|DYSF_uc010fek.3_Missense_Mutation_p.P1462R|DYSF_uc010yqy.2_Missense_Mutation_p.P325R|DYSF_uc010yqz.2_Missense_Mutation_p.P184R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1444						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGGTGGCCCAGGTAGGGGA	0.622000														34			8		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156432	52156432	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:52156432G>C	uc001ryw.3	+	14	2694	c.2516G>C	c.(2515-2517)gGg>gCg	p.G839A	SCN8A_uc010snl.2_Missense_Mutation_p.G839A|SCN8A_uc001ryy.2_Missense_Mutation_p.G704A	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	839					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GACGTGGAGGGGCTTTCAGTG	0.398000														54			8		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211369	72211369	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:72211369G>T	uc003xyu.3	-	8	1379	c.739C>A	c.(739-741)Cca>Aca	p.P247T	EYA1_uc003xyt.4_Missense_Mutation_p.P214T|EYA1_uc003xyr.4_Missense_Mutation_p.P242T|EYA1_uc010lzf.3_Missense_Mutation_p.P174T|EYA1_uc003xys.4_Missense_Mutation_p.P247T|EYA1_uc011lfe.2_Missense_Mutation_p.P241T|EYA1_uc003xyv.3_Missense_Mutation_p.P125T	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	247					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGTGTCGTTGGGCTGGTGTTG	0.498000														338			18		1.80694e-10	1.97258e-10	1	1	0
EVC2	132884	broad.mit.edu	37	4	5564656	5564656	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:5564656C>G	uc003gij.3	-	21	3900	c.3846G>C	c.(3844-3846)gaG>gaC	p.E1282D	EVC2_uc003gik.3_Missense_Mutation_p.E1202D|EVC2_uc011bwb.2_Missense_Mutation_p.E722D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1282						integral to membrane		p.E1282D(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAGTGAGATCTCTGGCTCCT	0.483000														167			26		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102818680	102818680	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:102818680G>C	uc001phl.3	-	7	1180	c.1151C>G	c.(1150-1152)gCa>gGa	p.A384G		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	384	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGAACAGCTGCACTTATCTT	0.433000														112			9		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78381398	78381398	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:78381398G>C	uc001ozl.4	-	31	6455	c.5992C>G	c.(5992-5994)Ctc>Gtc	p.L1998V	ODZ4_uc001ozk.4_Missense_Mutation_p.L223V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1998					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGTGAAGGAGGTGCCCATCC	0.537000														65			6		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846459	47846459	+	Silent	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:47846459G>A	uc011dwm.2	-	2	2155	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	PTCHD4_uc011dwn.2_Silent_p.N454N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	707						integral to membrane	hedgehog receptor activity										CCATGTCGACGTTCCATAATG	0.438000														14			3		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619890	77619890	+	Silent	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:77619890G>A	uc003yau.2	+	2	3087	c.2700G>A	c.(2698-2700)gcG>gcA	p.A900A	ZFHX4_uc003yat.1_Silent_p.A874A|ZFHX4_uc003yaw.1_Silent_p.A874A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	874						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGACCCAGCGCTGAAGCTAT	0.547000										HNSCC(33;0.089)				142			24		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482367	140482367	+	Silent	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:140482367C>A	uc003lio.3	+	0	2134	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.687000														179			85		9.53958e-58	1.12584e-57	1	1	0
MST1R	4486	broad.mit.edu	37	3	49933673	49933673	+	Silent	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:49933673G>T	uc003cxy.4	-	9	2868	c.2604C>A	c.(2602-2604)gcC>gcA	p.A868A	MST1R_uc011bdc.2_Silent_p.A868A|MST1R_uc011bdd.2_Silent_p.A869A	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	868					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAACTAGGTTGGCACTGGGTG	0.577000														169			8		0.0477658	0.0488853	1	1	0
INO80D	54891	broad.mit.edu	37	2	206869685	206869685	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:206869685C>A	uc002vaz.4	-	10	2896	c.2491G>T	c.(2491-2493)Gat>Tat	p.D831Y		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	831					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGCTCACTATCATAATGGCTT	0.502000														246			45		1.19451e-25	1.39715e-25	1	1	0
LRRCC1	85444	broad.mit.edu	37	8	86025203	86025203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86025203G>A	uc003ycw.3	+	3	621	c.413G>A	c.(412-414)aGa>aAa	p.R138K	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.R45K|LRRCC1_uc010maa.2_5'UTR|LRRCC1_uc003ycy.3_Missense_Mutation_p.R118K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	138					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CATAAACTTAGATATATTGAT	0.328000														172			35		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338208	72338208	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr15:72338208G>C	uc002atl.4	-	1	1170	c.697C>G	c.(697-699)Cag>Gag	p.Q233E	MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Missense_Mutation_p.Q233E|MYO9A_uc002atn.1_Missense_Mutation_p.Q233E	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	233	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGATGCACTGATTCTTTTTG	0.438000														145			4		0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983768	110983768	+	Silent	SNP	T	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:110983768T>G	uc001trh.1	-	2	747	c.519A>C	c.(517-519)tcA>tcC	p.S173S		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	173	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGCTCATCTGATCGGTGCA	0.562000														108			34		0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49339644	49339644	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:49339644C>A	uc002pkv.1	-	0	291	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	HSD17B14_uc010emk.1_Missense_Mutation_p.G9W	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	9					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		ACCACCTTCCCGGCATAGCGC	0.662000											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			3		1	1	1	1	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														262			5		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54967430	54967430	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:54967430C>G	uc001sgd.2	+	9	1394	c.1001C>G	c.(1000-1002)aCa>aGa	p.T334R	PDE1B_uc010soz.2_Missense_Mutation_p.T197R|PDE1B_uc010spa.1_Missense_Mutation_p.T293R|PDE1B_uc001sge.3_Missense_Mutation_p.T314R|PDE1B_uc001sgf.3_Missense_Mutation_p.T197R|PDE1B_uc009znq.3_Missense_Mutation_p.T130R	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	334	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GTGTTGGCCACAGACATGTCC	0.577000														191			46		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578658	67578658	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr16:67578658C>T	uc010vjp.2	+	15	3040	c.2854C>T	c.(2854-2856)Cgg>Tgg	p.R952W	FAM65A_uc002eth.3_Missense_Mutation_p.R932W|FAM65A_uc010cej.3_Missense_Mutation_p.R936W|FAM65A_uc010vjq.2_Missense_Mutation_p.R946W|FAM65A_uc002etk.3_Missense_Mutation_p.R930W	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	936						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGCTGCTGCGGGAAGCCCG	0.657000														132			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24208786	24208786	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:24208786G>A	uc003xdy.3	+	19	2224	c.2141G>A	c.(2140-2142)aGg>aAg	p.R714K	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.R401K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	714					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAACAGAAGAGGAAACCCCAG	0.478000														68			26		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043099	102043099	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:102043099G>T	uc001tii.3	+	12	1323	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	MYBPC1_uc001tif.2_Missense_Mutation_p.G408C|MYBPC1_uc001tig.3_Missense_Mutation_p.G420C|MYBPC1_uc010svr.2_Missense_Mutation_p.G395C|MYBPC1_uc010svs.2_Missense_Mutation_p.G395C|MYBPC1_uc001tij.3_Missense_Mutation_p.G395C|MYBPC1_uc010svt.2_Missense_Mutation_p.G383C|MYBPC1_uc010svu.2_Missense_Mutation_p.G376C|MYBPC1_uc001tik.3_Missense_Mutation_p.G369C|MYBPC1_uc001tih.3_Missense_Mutation_p.G420C|MYBPC1_uc010svq.2_Missense_Mutation_p.G382C	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	395	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAGAGTTGAGGGTAAAAAACA	0.348000														82			14		2.23348e-06	2.37875e-06	1	1	0
KISS1	3814	broad.mit.edu	37	1	204161910	204161910	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:204161910C>T	uc001har.3	-	1	249	c.95G>A	c.(94-96)aGa>aAa	p.R32K		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	32					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		ACCTGTGGGTCTAGAATTCCC	0.502000														6			25		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960214	73960214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:73960214C>T	uc004eby.3	-	2	4795	c.4178G>A	c.(4177-4179)aGg>aAg	p.R1393K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1393					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGATTGACCTGTGATTCTT	0.443000														37			36		0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43608100	43608100	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:43608100C>A	uc003ovv.3	+	2	691	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	MAD2L1BP_uc003ovu.3_Missense_Mutation_p.R251S	NM_014628	NP_055443	Q15013	MD2BP_HUMAN	Homo sapiens MAD2L1 binding protein (MAD2L1BP), transcript variant 2, mRNA.	219					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACAGGGACACCGCAACTGTGG	0.557000														108			8		0.000673444	0.000694655	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116426706	116426706	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:116426706C>T	uc003yny.3	-	6	4008	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TRPS1_uc011lhy.2_Missense_Mutation_p.V1135M|TRPS1_uc003ynz.3_Missense_Mutation_p.V1131M|TRPS1_uc010mcy.3_Missense_Mutation_p.V1131M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1131	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCCAGGCACGTGACTCAAG	0.468000									Langer-Giedion syndrome					15			4		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127107	45127107	+	Missense_Mutation	SNP	C	G	G	rs147409399	by1000genomes	TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592000														102			4		0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517561	39517561	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:39517561G>C	uc002okh.3	-	4	739	c.657C>G	c.(655-657)ttC>ttG	p.F219L		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	219	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCACAGCAGAGAATTTATCTA	0.557000														307			82		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107807411	107807411	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:107807411C>T	uc022aka.1	-	26	3527	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1141	Fibronectin type-III 5.			DSG -> GPR (in Ref. 8; CAA04507).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAACCAGAGTCCCCCACAGCA	0.517000														43			3		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86037142	86037142	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:86037142G>C	uc003ycw.3	+	7	1448	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.D321H|LRRCC1_uc010maa.2_Missense_Mutation_p.D115H|LRRCC1_uc003ycy.3_Missense_Mutation_p.D394H	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	414					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATTAAAGTAGACCAAAGTCA	0.303000														151			6		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566808	55566808	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr10:55566808C>T	uc010qhq.2	-	34	4969	c.4574G>A	c.(4573-4575)tGt>tAt	p.C1525Y	PCDH15_uc010qhr.2_Missense_Mutation_p.C1520Y	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	592					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTCTCTGACATTCAGGAGC	0.418000										HNSCC(58;0.16)				9			8		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446636	11446636	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:11446636A>C	uc021zzo.1	-	20	4215	c.3963T>G	c.(3961-3963)gaT>gaG	p.D1321E	THSD7A_uc021zzn.1_Missense_Mutation_p.D1319E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1321	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGTCTTCCATCACCTTGAA	0.483000										HNSCC(18;0.044)				32			3		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75590991	75590991	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:75590991C>A	uc001oxc.3	+	3	580	c.339C>A	c.(337-339)ttC>ttA	p.F113L	UVRAG_uc010rrw.2_Missense_Mutation_p.F12L	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	113	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTCTTGTTTCGTGGTGAAGA	0.438000														710			36		5.43694e-19	6.24771e-19	1	1	0
BC101079	0	broad.mit.edu	37	15	102292797	102292797	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr15:102292797C>G	uc010usj.2	+	3	444	c.385C>G	c.(385-387)Cca>Gca	p.P129A	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000														146			4		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118703131	118703131	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:118703131T>A	uc002tlj.3	-	16	1492	c.1324A>T	c.(1324-1326)Acc>Tcc	p.T442S	CCDC93_uc010fld.2_Missense_Mutation_p.T498S	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	442										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGGTCAAGGTACCAGGCGGC	0.517000														69			13		0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909536	32909536	+	Silent	SNP	A	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:32909536A>G	uc003tdb.2	-	3	1952	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	431										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCATCACATAAATGCAGTCAT	0.458000														102			20		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728628	12728628	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chrX:12728628C>G	uc004cuz.2	+	13	2087	c.1581C>G	c.(1579-1581)aaC>aaG	p.N527K	FRMPD4_uc011mij.2_Missense_Mutation_p.N519K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	527					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.N527K(4)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACATGGCCAACAAGAAAAACA	0.483000														30			55		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545739	82545739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:82545739G>A	uc003uhx.2	-	6	11852	c.11563C>T	c.(11563-11565)Cga>Tga	p.R3855*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R3855*|PCLO_uc010lec.3_Nonsense_Mutation_p.R820*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3786	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTTGGTCGCTCAATGCCA	0.468000														187			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:179440352A>C	uc021vsy.1	-	274	63028	c.62803T>G	c.(62803-62805)Tgt>Ggt	p.C20935G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C14630G|TTN_uc021vta.1_Missense_Mutation_p.C14563G|TTN_uc021vtb.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21862	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438000														50			8		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155631174	155631174	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:155631174C>A	uc010pgi.2	-	8	1526	c.1334G>T	c.(1333-1335)tGc>tTc	p.C445F	GON4L_uc021paz.1_Missense_Mutation_p.C287F|GON4L_uc010pgg.2_Missense_Mutation_p.C192F|GON4L_uc010pgh.2_Missense_Mutation_p.C296F|GON4L_uc009wqt.3_Missense_Mutation_p.C276F|GON4L_uc001flh.3_Missense_Mutation_p.C425F|GON4L_uc001fll.3_Missense_Mutation_p.C307F|GON4L_uc001flk.3_Missense_Mutation_p.C296F|GON4L_uc001flm.3_Missense_Mutation_p.C296F|GON4L_uc009wqu.3_Missense_Mutation_p.C140F|GON4L_uc009wqv.3_Missense_Mutation_p.C24F|GON4L_uc009wqw.3_Missense_Mutation_p.C276F|GON4L_uc001flj.3_Missense_Mutation_p.C287F|GON4L_uc001fli.3_Missense_Mutation_p.C307F|GON4L_uc001flo.3_Missense_Mutation_p.C241F|GON4L_uc001fln.3_Missense_Mutation_p.C353F|GON4L_uc010pgj.2_Missense_Mutation_p.C373F|GON4L_uc001flp.3_Missense_Mutation_p.C307F|GON4L_uc009wqx.3_Missense_Mutation_p.C445F	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	896					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTTCACAGCATTTTCCTAG	0.443000														345			19		0.000375601	0.000390506	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480823	140480823	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr5:140480823A>G	uc003lio.3	+	0	590	c.590A>G	c.(589-591)gAt>gGt	p.D197G	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	197	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGTACTGGATAAAGCGCTC	0.567000														94			3		0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31129289	31129289	+	Silent	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:31129289C>T	uc003nss.3	+	2	828	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	TCF19_uc003nst.3_Silent_p.L102L	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	102					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TGGAGACCTCCTGACCTTTGG	0.532000														169			61		0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243471466	243471466	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:243471466G>C	uc001hzw.3	+	7	1085	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E161Q|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E118Q|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E118Q	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	306	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCAGACCATCGAAAGACTGGT	0.423000														154			58		0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096357	44096357	+	Splice_Site	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:44096357G>T	uc003tjp.4	+	5	426	c.328_splice	c.e5-1	p.G110_splice	DBNL_uc003tjo.4_Splice_Site_p.G110_splice|DBNL_uc003tjq.4_Splice_Site_p.G110_splice|DBNL_uc011kbm.2_Splice_Site_p.G85_splice|DBNL_uc011kbo.2_Splice_Site_p.G10_splice|DBNL_uc011kbp.2_Intron|DBNL_uc011kbq.2_Splice_Site_p.G35_splice|DBNL_uc011kbn.2_Splice_Site_p.G7_splice|DBNL_uc011kbr.2_Splice_Site_p.G58_splice|DBNL_uc011kbs.2_Splice_Site_p.G7_splice	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	110	ADF-H.				Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CTGCTGCAGGGGGCCCATGTG	0.577000														57			8		1.08611e-07	1.17587e-07	1	1	0
OR4C3	256144	broad.mit.edu	37	11	48346857	48346857	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:48346857G>A	uc010rhv.2	+	0	365	c.365G>A	c.(364-366)tGc>tAc	p.C122Y		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGAGTGCTGCATGGCTCAG	0.458000														235			12		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214564	45214564	+	Missense_Mutation	SNP	A	T	T	rs78525224		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:45214564A>T	uc002ile.4	-	13	2012	c.1885T>A	c.(1885-1887)Tgt>Agt	p.C629S	CDC27_uc002ild.4_Missense_Mutation_p.C623S|CDC27_uc002ilf.4_Missense_Mutation_p.C622S|CDC27_uc010wkp.2_Missense_Mutation_p.C562S|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	623					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.R629R(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTCGAAAACAAGCTAATGCT	0.378000														42			3		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204702	128204702	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr3:128204702G>C	uc003ekm.3	-	3	1174	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	GATA2_uc003ekn.3_Missense_Mutation_p.P247A|GATA2_uc003eko.2_Missense_Mutation_p.P247A	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	247					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGTAGGTGGGGATGGGGTGG	0.657000			Mis		AML(CML blast transformation)									68			9		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502234	133502234	+	Silent	SNP	T	C	C			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr7:133502234T>C	uc003vrk.3	+	10	1706	c.1671T>C	c.(1669-1671)ccT>ccC	p.P557P	EXOC4_uc011kpo.2_Silent_p.P456P|EXOC4_uc003vrl.3_Silent_p.P167P|EXOC4_uc011kpp.2_Silent_p.P89P	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	557					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CATCTGACCCTTTGAAGATTC	0.428000														44			9		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62631000	62631000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr20:62631000C>T	uc002yho.3	+	7	1079	c.911C>T	c.(910-912)aCg>aTg	p.T304M	PRPF6_uc002yhp.3_Missense_Mutation_p.T304M	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	304					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GTTCGGGAGACGAACCCTCAT	0.577000														101			51		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105600946	105600946	+	Missense_Mutation	SNP	G	A	A	rs143266379		TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr12:105600946G>A	uc010swu.1	-	7	750	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	APPL2_uc010swt.2_Missense_Mutation_p.R129W|APPL2_uc001tlf.1_Missense_Mutation_p.R172W|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R129W	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	172	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTGCTTCCGCCGGGCCGCG	0.517000														75			3		0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160063722	160063722	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr1:160063722C>A	uc001fva.3	-	2	727	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	IGSF8_uc001fuz.3_Missense_Mutation_p.V228L|IGSF8_uc009wtf.3_Missense_Mutation_p.V228L	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	228	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCCTCCACGGCCAAGTCT	0.627000														78			18		8.04996e-18	9.16995e-18	1	1	0
ZNF513	130557	broad.mit.edu	37	2	27600878	27600878	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr2:27600878G>T	uc002rkk.3	-	3	1378	c.1160C>A	c.(1159-1161)cCc>cAc	p.P387H	ZNF513_uc002rkj.3_Missense_Mutation_p.P325H	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	387					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCGGAAGGGCTTCTCACC	0.597000														234			42		9.45407e-15	1.05853e-14	1	1	0
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:34951143delC	uc003ojx.4	+	6	1095	c.953delC	c.(952-954)accfs	p.T318fs	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418													---	799	---	---	7	---					
METTL24	728464	broad.mit.edu	37	6	110679166	110679166	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr6:110679166delG	uc010kdu.1	-	0	310	c.310delC	c.(310-312)cgcfs	p.R104fs	METTL24_uc003pub.2_Intron	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	104						extracellular region											ACCTTccggcgggggcgcccg	0.786													---	4	---	---	2	---					
DLC1	10395	broad.mit.edu	37	8	12946210	12946211	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr8:12946210_12946211insCA	uc003wwm.2	-	15	4521_4522	c.4077_4078insTG	c.(4075-4080)gtgagcfs	p.V1359fs	DLC1_uc003wwk.1_Frame_Shift_Ins_p.V922fs|DLC1_uc003wwl.1_Frame_Shift_Ins_p.V956fs|DLC1_uc011kxx.1_Frame_Shift_Ins_p.V848fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1359	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.K1358fs*16(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGTCCTTCGCTCACCTGGAAAG	0.436													---	60	---	---	33	---					
INPPL1	3636	broad.mit.edu	37	11	71948209	71948209	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr11:71948209delC	uc001osf.3	+	25	3068	c.2921delC	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGGTGGCGGCCCCCCCACCC	0.637													---	643	---	---	7	---					
TECPR2	9895	broad.mit.edu	37	14	102901462	102901462	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr14:102901462delA	uc001ylw.2	+	8	2534	c.2308delA	c.(2308-2310)agtfs	p.S770fs	TECPR2_uc010awl.3_Frame_Shift_Del_p.S770fs|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	770							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCAGAGACGAGTGTGACAGA	0.607													---	138	---	---	30	---					
SGSM2	9905	broad.mit.edu	37	17	2281207	2281209	+	In_Frame_Del	DEL	CTA	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:2281207_2281209delCTA	uc002fum.4	+	21	3036_3038	c.2859_2861delCTA	c.(2857-2862)ttctac>ttc	p.Y954del	SGSM2_uc002fun.4_In_Frame_Del_p.Y909del|SGSM2_uc010vqw.2_In_Frame_Del_p.Y909del|SGSM2_uc002fuq.3_In_Frame_Del_p.Y71del	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	909						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACACCCACTTCTACTTCTGTTAT	0.522													---	140	---	---	19	---					
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr17:7193599delG	uc002gfq.2	-	4	772	c.715delC	c.(715-717)cggfs	p.R239fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													---	394	---	---	7	---					
FCGBP	8857	broad.mit.edu	37	19	40433822	40433822	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:40433822delG	uc002omp.4	-	1	455	c.447delC	c.(445-447)cccfs	p.P149fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	149	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAGGTGCCGGGGGGTGTGA	0.607													---	146	---	---	8	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	-	-			TCGA-ER-A3EV-06A-11D-A20D-08	TCGA-ER-A3EV-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8734b653-42a4-4c0c-815c-64811039c98b	ecda3330-2354-4073-8a1e-d3618a495e4d	g.chr19:40929409_40929411delCTC	uc002ont.4	-	1	202_204	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													---	208	---	---	11	---