Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC52A2	79581	broad.mit.edu	37	8	145583657	145583657	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr8:145583657C>T	ENST00000532887.1	+	3	1088	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	SLC52A2_ENST00000527078.1_Missense_Mutation_p.R169C|SLC52A2_ENST00000540505.1_Missense_Mutation_p.R81C|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R169C|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000329994.2_Missense_Mutation_p.R169C|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R169C			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	169						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.R169C(1)									GGGTGTGGGCCGCCTCGAGTG	0.662000													3	5					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043736	20043736	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr16:20043736A>T	ENST00000570682.1	-	2	683	c.383T>A	c.(382-384)aTc>aAc	p.I128N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	128						integral to membrane|plasma membrane		p.I128N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GCAGACAGCGATATACCTGTC	0.507000													90	407					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60966358	60966358	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr20:60966358C>G	ENST00000279101.5	-	9	1251	c.1243G>C	c.(1243-1245)Gct>Cct	p.A415P		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	415					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	p.A415P(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCTTGGCAGCCAGCAGCACG	0.627000													5	17					0	0	1	0	0
LYL1	4066	broad.mit.edu	37	19	13211508	13211508	+	Silent	SNP	C	C	T	rs142687463	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:13211508C>T	ENST00000264824.4	-	3	750	c.390G>A	c.(388-390)aaG>aaA	p.K130K		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	130					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.K130K(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			TTGGTCTCCGCTTCAACCGGC	0.562000			T	TRB@	T-ALL								7	59					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52269072	52269072	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:52269072G>A	ENST00000305533.5	-	2	319	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R26W	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2									p.R26W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGATGAGCCGCACAGAGCCA	0.582000													3	21					0	0	1	0	0
FAM110A	83541	broad.mit.edu	37	20	826325	826325	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr20:826325C>T	ENST00000304189.2	+	3	1259	c.878C>T	c.(877-879)gCt>gTt	p.A293V	RP11-276A18.2_ENST00000505691.2_RNA|FAM110A_ENST00000381941.3_Missense_Mutation_p.A293V|FAM110A_ENST00000541082.1_Missense_Mutation_p.A293V|FAM110A_ENST00000246100.3_Missense_Mutation_p.A293V|FAM110A_ENST00000381939.1_Missense_Mutation_p.A293V			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	293						microtubule organizing center|spindle pole	protein binding	p.A293V(1)		breast(1)|lung(2)	3						AGCCCAGCAGCTGAAGGCTAG	0.627000													6	18					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30662458	30662458	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr20:30662458C>A	ENST00000534862.1	+	6	665	c.302C>A	c.(301-303)gCc>gAc	p.A101D	HCK_ENST00000538448.1_Missense_Mutation_p.A100D|HCK_ENST00000520553.1_Missense_Mutation_p.A100D|HCK_ENST00000375852.2_Missense_Mutation_p.A121D|HCK_ENST00000518730.1_Missense_Mutation_p.A99D|HCK_ENST00000375862.2_Missense_Mutation_p.A120D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	121	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A100D(1)|p.A121D(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGATCCCTGGCCACCCGGAAG	0.552000													9	118					0.000442599	0.000454455	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067911	76067911	+	RNA	SNP	A	A	G	rs12101948	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:76067911A>G	ENST00000395215.3	+	0	18																											CAGGTGCCTGATACGTGACTG	0.547000													4	71					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92090700	92090700	+	Silent	SNP	T	T	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr8:92090700T>C	ENST00000285420.4	+	4	621	c.522T>C	c.(520-522)gcT>gcC	p.A174A	OTUD6B_ENST00000404789.3_Silent_p.A43A	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	144	OTU.							p.A174A(1)|p.A144A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TATTGGCAGCTAGACAGTTAG	0.398000													3	30					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119328403	119328403	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:119328403G>A	ENST00000273371.4	+	4	614	c.542G>A	c.(541-543)gGc>gAc	p.G181D	PLA1A_ENST00000495992.1_Missense_Mutation_p.G165D|PLA1A_ENST00000494440.1_Missense_Mutation_p.G165D|PLA1A_ENST00000488919.1_Missense_Mutation_p.G8D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	181					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	p.G181D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTTCGGAGGCCAGCTGGGA	0.537000													46	179					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594807	55594807	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:55594807C>T	ENST00000378397.1	+	1	113	c.113C>T	c.(112-114)aCg>aTg	p.T38M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38M(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TATGGAGTCACGTTGTTAGCC	0.502000										HNSCC(27;0.073)			31	942					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298621	62298621	+	Missense_Mutation	SNP	G	G	A	rs148272375		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:62298621G>A	ENST00000378024.4	-	5	3542	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1090					nervous system development	nucleus	protein binding	p.P1090S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTATCTTTGGTGCAGAGATA	0.468000													6	145					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46228930	46228930	+	Missense_Mutation	SNP	C	C	T	rs235293	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr21:46228930C>T	ENST00000397898.3	-	3	336	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		AATCGGAAGTCGCCCTGGAAC	0.478000													3	34					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGCACCCCTGGCCAAGGTCAT	0.577000													3	14					0.115264	0.115264	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211280627	211280627	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:211280627C>T	ENST00000367007.4	-	2	341	c.172G>A	c.(172-174)Gca>Aca	p.A58T	KCNH1_ENST00000271751.4_Missense_Mutation_p.A58T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	58	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.A58T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCACTTCTGCCCTGTGATAG	0.388000													51	99					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45808791	45808791	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:45808791A>C	ENST00000372090.5	+	8	1533	c.950A>C	c.(949-951)cAg>cCg	p.Q317P	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.Q237P	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	317						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	p.Q317P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAGTGTCCTCAGTCTCACGAT	0.552000													6	99					0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132585013	132585013	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr9:132585013C>T	ENST00000351698.4	-	2	339	c.291G>A	c.(289-291)acG>acA	p.T97T	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	97					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.T97T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GCAGGGAGAGCGTGAGAGGTT	0.473000													6	77					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135592250	135592250	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chrX:135592250G>A	ENST00000535601.1	+	9	1356	c.934G>A	c.(934-936)Gat>Aat	p.D312N	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D312N	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	312	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.D312N(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGGCACCCAGATGGTGTGGC	0.398000													36	400					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232868	58232868	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:58232868C>T	ENST00000317398.6	-	4	681	c.586G>A	c.(586-588)Gca>Aca	p.A196T	ZNF671_ENST00000335820.3_Missense_Mutation_p.A98T|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A196T(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCACATGCCCCACACAAG	0.488000													6	69					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228714	118228714	+	Silent	SNP	T	T	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:118228714T>C	ENST00000369230.3	+	9	1091	c.945T>C	c.(943-945)tgT>tgC	p.C315C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	315					lipid catabolic process	extracellular region	triglyceride lipase activity	p.C315C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCTTCTTTTGTTCCAAAGAAG	0.313000													24	140					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471727	131471727	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr12:131471727C>T	ENST00000261654.5	+	6	1137	c.578C>T	c.(577-579)cCg>cTg	p.P193L	GPR133_ENST00000535015.1_Missense_Mutation_p.P225L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	193					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P193L(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCTCTGATCCGAGTGGAAAA	0.512000													6	106					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159499085	159499085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:159499085C>T	ENST00000389757.3	+	11	1908	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	PKP4_ENST00000389759.3_Nonsense_Mutation_p.R595*	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	595					cell adhesion	desmosome	protein binding	p.R595*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGGTGCCCTTCGAAACCTCGT	0.418000										HNSCC(62;0.18)			10	302					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43819909	43819909	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:43819909A>T	ENST00000278353.4	+	4	442	c.323A>T	c.(322-324)gAc>gTc	p.D108V	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	108					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	p.D108V(1)		endometrium(2)|large_intestine(4)|lung(4)	10						ATTGCTGTTGACTTTGCATCA	0.368000													97	227					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr17:5041502G>A	ENST00000574788.1	+	21	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	338					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V338M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	43					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475178	29475178	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:29475178G>C	ENST00000373795.4	-	6	1463	c.1229C>G	c.(1228-1230)tCc>tGc	p.S410C	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	410	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	p.S410C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTTTGACACGGAGCGGGATGG	0.582000													9	58					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27215709	27215709	+	Missense_Mutation	SNP	G	G	C	rs114674760	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:27215709G>C	ENST00000230582.3	+	2	134	c.119G>C	c.(118-120)aGc>aCc	p.S40T	PRSS16_ENST00000421826.2_Missense_Mutation_p.S40T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	40					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.S40T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTTCAGGAGAGCTCTGCCCAG	0.642000													7	105					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17073016	17073016	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chrX:17073016G>A	ENST00000357277.3	+	8	1228	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	REPS2_ENST00000303843.7_Missense_Mutation_p.G352S|REPS2_ENST00000380064.4_Missense_Mutation_p.G213S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	353	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	p.G353S(1)|p.G214S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCGGAAGAACGGCTACCCATT	0.512000													8	156					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102690783	102690783	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:102690783C>T	ENST00000238961.3	+	9	2532	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F	FAM178A_ENST00000370269.3_Missense_Mutation_p.S795F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	795								p.S795F(1)									TTCCTTACGTCTGCTTATCAC	0.368000													24	268					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998717	112998717	+	Silent	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:112998717G>A	ENST00000495514.1	+	13	2771	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	BOC_ENST00000355385.3_Silent_p.E689E|BOC_ENST00000273395.4_Silent_p.E690E			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	689	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.E689E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGCTGGGGGAGAGCGAGCCCA	0.602000													4	34					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427306	71427306	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chrX:71427306C>T	ENST00000373657.1	-	3	1544	c.942G>A	c.(940-942)gaG>gaA	p.E314E	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.E437E			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	437					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	p.E437E(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AATCTTCCCCCTCATTTCCAT	0.423000													31	611					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031055	32031055	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:32031055C>T	ENST00000360311.4	+	2	1033	c.484C>T	c.(484-486)Cat>Tat	p.H162Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H162Y(2)		endometrium(3)|lung(4)|ovary(1)	8						CTTTCATTCGCATCTTCCTGA	0.413000													10	172					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930416	121930416	+	Missense_Mutation	SNP	C	C	T	rs141766717	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr9:121930416C>T	ENST00000265922.3	-	8	1693	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		411					cell cycle arrest|cell death	cytoplasm	protein binding	p.R411Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CACGCAGCTCCGCTGGCTCTC	0.597000													9	11					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826855	34826855	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:34826855C>T	ENST00000192788.5	+	14	2893	c.2722C>T	c.(2722-2724)Cta>Tta	p.L908L	UHRF1BP1_ENST00000452449.2_Silent_p.L908L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	908								p.L908L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGATTCAGAGCTATCTCCTTC	0.527000													4	72					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134143	128134143	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:128134143C>G	ENST00000368250.1	-	5	1904	c.1406G>C	c.(1405-1407)aGc>aCc	p.S469T	THEMIS_ENST00000543064.1_Missense_Mutation_p.S548T|THEMIS_ENST00000537166.1_Missense_Mutation_p.S513T|THEMIS_ENST00000368248.2_Missense_Mutation_p.S548T			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	548	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.S548T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGAGGCTGAGCTTTCATATCT	0.463000													42	143					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480629	128480629	+	Missense_Mutation	SNP	G	G	A	rs34932223		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr7:128480629G>A	ENST00000325888.8	+	10	1838	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R526Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	526					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R526Q(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAAGGTGCGGGAGGCTGGG	0.612000													5	35					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33140660	33140660	+	Silent	SNP	G	G	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:33140660G>T	ENST00000306065.4	-	3	299	c.141C>A	c.(139-141)atC>atA	p.I47I	ANKRD27_ENST00000586693.2_5'UTR|ANKRD27_ENST00000587352.1_Silent_p.I47I	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	47					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.I47I(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAGTAGACTGGATGCTGCTCG	0.448000													9	113					7.48243e-07	8.19504e-07	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777703	237777703	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:237777703C>T	ENST00000366574.2	+	37	5592	c.5275C>T	c.(5275-5277)Cca>Tca	p.P1759S	RYR2_ENST00000360064.6_Missense_Mutation_p.P1757S|RYR2_ENST00000542537.1_Missense_Mutation_p.P1743S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1759	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1757S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTCAGGCCACGGATGCA	0.512000													33	299					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209797336	209797336	+	Silent	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:209797336G>C	ENST00000391911.1	-	14	2375	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L	LAMB3_ENST00000367030.3_Silent_p.L662L|LAMB3_ENST00000356082.4_Silent_p.L662L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	662	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.L662L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAGGCCCTGGAGAGTTCGCC	0.532000													12	34					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748249	30748249	+	Silent	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:30748249G>C	ENST00000263056.1	+	8	1788	c.1092G>C	c.(1090-1092)ctG>ctC	p.L364L	MAP3K8_ENST00000542547.1_Silent_p.L364L|MAP3K8_ENST00000375321.1_Silent_p.L364L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	364	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.L364L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				TGAGAGAGCTGATAGAAGCTT	0.527000													7	92					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52643464	52643464	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:52643464G>A	ENST00000399231.3	-	28	4079	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V	MYO5A_ENST00000553916.1_Missense_Mutation_p.A1279V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1279V|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1279V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1279V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1279					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.A1279V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGGTTGGATGGCCTCTTTCTG	0.512000													5	25					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612580	16612580	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr17:16612580C>T	ENST00000443444.2	+	5	1349	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	CCDC144A_ENST00000360524.8_Silent_p.C403C|CCDC144A_ENST00000340621.5_Silent_p.C402C|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Silent_p.C403C|CCDC144A_ENST00000399273.1_Silent_p.C403C			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	403								p.C403C(1)									AATTAGACTGCGACAATGATA	0.358000													68	50					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922153	43922153	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:43922153C>A	ENST00000602198.1	+	7	1011	c.569C>A	c.(568-570)aCt>aAt	p.T190N	TEX101_ENST00000253435.7_Missense_Mutation_p.T190N|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.T172N	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	172						anchored to membrane|plasma membrane		p.T190N(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CTTGAGATCACTGGAGGTAAA	0.483000													15	182					8.34094e-07	8.96456e-07	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40366566	40366566	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:40366566G>C	ENST00000406785.1	-	7	2601	c.2412C>G	c.(2410-2412)ttC>ttG	p.F804L	SLC8A1_ENST00000332839.4_Missense_Mutation_p.F840L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F804L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F804L|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F835L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F832L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F840L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F804L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F804L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F835L|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	840					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F840L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGTGCGACGAACACGACTG	0.463000													41	72					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801053	9801053	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:9801053G>C	ENST00000457674.2	-	5	1644	c.1126C>G	c.(1126-1128)Cgt>Ggt	p.R376G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R376G(1)		ovary(1)	1						TGTTTACTACGATAGGAAGAA	0.393000													8	130					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120110257	120110257	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr12:120110257C>A	ENST00000229328.5	+	2	803	c.311C>A	c.(310-312)cCc>cAc	p.P104H	PRKAB1_ENST00000541640.1_Missense_Mutation_p.P104H|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	104					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.P104H(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGTAAACTTCCCCTCACCAGA	0.463000													4	29					4.096e-09	4.5732e-09	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45860756	45860756	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:45860756G>T	ENST00000391945.4	-	14	1430	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L	ERCC2_ENST00000391944.3_Missense_Mutation_p.F373L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	451	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.F451L(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGACAGACTGGAAACGCTCAA	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	22					3.52763e-06	3.75627e-06	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3102545	3102545	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr18:3102545C>G	ENST00000400569.3	-	23	3835	c.3502G>C	c.(3502-3504)Gag>Cag	p.E1168Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.E1072Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.E1168Q			P52179	MYOM1_HUMAN	myomesin 1	1168	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle	p.E1168Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGAGAACTCGGACTTTGGA	0.413000													79	259					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101124	79101124	+	Missense_Mutation	SNP	A	A	T	rs149877350		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:79101124A>T	ENST00000370751.4	+	5	1005	c.826A>T	c.(826-828)Atg>Ttg	p.M276L	IFI44L_ENST00000342282.3_Missense_Mutation_p.M18L|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	276						cytoplasm		p.M237L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGACTGTGCATGGATGACAT	0.373000													42	621					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			109	312					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91485697	91485697	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:91485697C>T	ENST00000394275.2	+	10	1508	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	UNC45A_ENST00000553671.2_Intron|UNC45A_ENST00000418476.2_Missense_Mutation_p.R240W	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	240					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R240W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTGGGAACTCGGCGAGTAGT	0.562000													4	30					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57975228	57975228	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr12:57975228C>A	ENST00000455537.2	+	25	3060	c.2786C>A	c.(2785-2787)gCa>gAa	p.A929E	KIF5A_ENST00000286452.5_Missense_Mutation_p.A840E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	929	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.A929E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACTACCCAGCATCCTCACCC	0.552000													16	60					4.96729e-08	5.49268e-08	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294752	5294752	+	Silent	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr20:5294752G>A	ENST00000546004.1	-	2	510	c.264C>T	c.(262-264)acC>acT	p.T88T	PROKR2_ENST00000217270.3_Silent_p.T88T			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	88						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.T88T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGAGCAGATTGGTGAGGTTGC	0.557000										HNSCC(71;0.22)			5	73					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			2	3					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881468	39881468	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:39881468C>T	ENST00000260356.5	+	12	2004	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	613	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.P613P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACACGGACCCCGGCTACAACT	0.562000													14	68					0	0	1	0	0
FUCA2	2519	broad.mit.edu	37	6	143823616	143823616	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:143823616C>T	ENST00000002165.5	-	4	894	c.839G>A	c.(838-840)cGt>cAt	p.R280H	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	280					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	p.R280H(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGGGTTATAACGATCACTGCA	0.468000													14	322					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359654	52359654	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr8:52359654C>G	ENST00000356297.4	-	12	1535	c.1435G>C	c.(1435-1437)Gca>Cca	p.A479P	PXDNL_ENST00000543296.1_Missense_Mutation_p.A479P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	479	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A479P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCGTGCTGTGCTGCACGGTCA	0.463000													46	429					0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337261	6337261	+	RNA	SNP	A	A	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr5:6337261A>C	ENST00000507444.1	-	0	143					NR_028351.1																						CAACAGACTCACCATCACGAT	0.502000													47	110					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2987387	2987387	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr7:2987387C>T	ENST00000396946.4	-	3	445	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	14					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T7T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CATCCTTCAGCGTCTCCATGT	0.517000			Mis		DLBCL								20	370					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981660	7981660	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:7981660T>C	ENST00000328600.2	-	2	1660	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	500							ATP binding	p.E500G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTTACCTCCAGCAGCCT	0.493000													8	147					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004382	40004382	+	Silent	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr17:40004382G>A	ENST00000293303.4	+	5	1803	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	550						cytoplasm		p.K550K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATGATGAAAAGACCGATGAGT	0.463000													12	117					0	0	1	0	0
BOK	666	broad.mit.edu	37	2	242501828	242501828	+	Silent	SNP	C	C	T	rs145137590	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:242501828C>T	ENST00000318407.3	+	3	588	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	96					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		p.L96L(1)		large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GCACATCTCCCTGCAGTCTGA	0.637000													4	9					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975129	31975129	+	RNA	SNP	T	T	C	rs113153064	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:31975129T>C	ENST00000342991.6	+	0	1252					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										AAGAGGGCTCTGGACAGCTCC	0.607000													3	12					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818488	43818488	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:43818488C>A	ENST00000382031.1	+	5	5562	c.5531C>A	c.(5530-5532)gCc>gAc	p.A1844D	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1606D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1606D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1606						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A1606D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGGTCAAGGCCATGGAAGAG	0.512000													6	46					0.00198382	0.00201893	1	1	0
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	T	C	rs17438520	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr4:39482584T>C	ENST00000513652.1	+	0	591																											GCCACAAGACTGCTAGCTCAC	0.453000													5	67					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216983788	216983788	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:216983788C>T	ENST00000392133.3	+	7	852	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	XRCC5_ENST00000392132.2_Missense_Mutation_p.H131Y			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	131					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.H131Y(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAGAAGAGGCATATTGAAAT	0.343000								Non-homologous end-joining					13	149					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650622	90650622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr14:90650622C>T	ENST00000282146.4	+	2	943	c.502C>T	c.(502-504)Cga>Tga	p.R168*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R168*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCTCCGGAGACGAGGGGCCCT	0.612000													14	67					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99696405	99696405	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:99696405C>A	ENST00000394132.2	-	12	1908	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	TTC23_ENST00000394136.1_Missense_Mutation_p.G364V|TTC23_ENST00000558663.1_Missense_Mutation_p.G364V|TTC23_ENST00000394129.2_Missense_Mutation_p.G364V|TTC23_ENST00000394135.3_Missense_Mutation_p.G364V|TTC23_ENST00000558613.1_Missense_Mutation_p.G364V|TTC23_ENST00000262074.4_Missense_Mutation_p.G364V|TTC23_ENST00000394130.1_Missense_Mutation_p.G364V			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	364							binding	p.G364V(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGGTCTGCTCCTCCCAGGAG	0.577000													7	43					0.000157383	0.000163055	1	1	0
POTEA	340441	broad.mit.edu	37	8	43197329	43197329	+	RNA	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr8:43197329G>A	ENST00000522175.2	+	0	1082							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTATCTTACAGGTCAAAAGCC	0.318000													66	193					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089474	42089474	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr20:42089474A>G	ENST00000244020.3	+	6	912	c.806A>G	c.(805-807)tAt>tGt	p.Y269C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	269	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Y269C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAGGATGAGTATGAGAAATCT	0.453000													4	52					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89911744	89911744	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr16:89911744G>T	ENST00000378247.3	+	2	302	c.259G>T	c.(259-261)Gtc>Ttc	p.V87F	SPIRE2_ENST00000563972.1_Missense_Mutation_p.V87F|SPIRE2_ENST00000393062.2_Missense_Mutation_p.V87F|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	87	KIND.				transport	cytoplasm|cytoskeleton	actin binding	p.V87F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGCAACCATGGTCGTGCCACT	0.468000													4	28					3.59834e-05	3.7619e-05	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031135	32031135	+	Silent	SNP	A	A	G	rs6419811	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:32031135A>G	ENST00000360311.4	+	2	1113	c.564A>G	c.(562-564)tcA>tcG	p.S188S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ATGCTTCCTCAGTTCTAACGT	0.358000													4	78					0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892293	90892293	+	Missense_Mutation	SNP	C	C	T	rs2589973	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:90892293C>T	ENST00000412799.2	-	1	376	c.137G>A	c.(136-138)aGg>aAg	p.R46K																								GTACTTCCTCCTGTCCAGATC	0.493000													3	30					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748321	30748321	+	Silent	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:30748321G>C	ENST00000263056.1	+	8	1860	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	MAP3K8_ENST00000542547.1_Silent_p.L388L|MAP3K8_ENST00000375321.1_Silent_p.L388L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	388	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.L388L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATGAGGCCCTGAACCCGCCCA	0.567000													7	57					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270922	154270922	+	Silent	SNP	A	A	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr5:154270922A>G	ENST00000285873.7	-	26	4216	c.4141T>C	c.(4141-4143)Ttg>Ctg	p.L1381L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1381					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.L1381L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTCTGCCAAGGTCTCTTGG	0.453000													17	134					0	0	1	0	0
ELOF1	84337	broad.mit.edu	37	19	11665121	11665121	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:11665121C>T	ENST00000586683.1	-	2	99	c.42G>A	c.(40-42)aaG>aaA	p.K14K	ELOF1_ENST00000590700.1_Silent_p.K14K|ELOF1_ENST00000589171.1_Silent_p.K14K|ELOF1_ENST00000586120.1_Silent_p.K14K|ELOF1_ENST00000252445.3_Silent_p.K14K|ELOF1_ENST00000591912.1_Silent_p.K14K|ELOF1_ENST00000591674.1_Silent_p.K21K|ELOF1_ENST00000587806.1_Silent_p.K35K			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K14K(1)		endometrium(3)|lung(2)	5						CTGTCATCTTCTTCTTGGGAG	0.552000													15	61					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223283837	223283837	+	Missense_Mutation	SNP	T	T	C	rs5744177	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:223283837T>C	ENST00000540964.1	-	4	2998	c.2537A>G	c.(2536-2538)gAc>gGc	p.D846G	TLR5_ENST00000342210.6_Missense_Mutation_p.D846G			O60602	TLR5_HUMAN	toll-like receptor 5	846			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.D846G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AATGTTATTGTCTTTCTTCTT	0.378000													5	94					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78602256	78602256	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr5:78602256A>C	ENST00000396137.4	+	7	2402	c.1940A>C	c.(1939-1941)gAa>gCa	p.E647A	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	647					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.E293A(1)|p.E647A(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATTGAAGATGAATATAGAACC	0.303000													22	453					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74495917	74495917	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr14:74495917A>G	ENST00000394009.3	+	3	439	c.316A>G	c.(316-318)Aca>Gca	p.T106A	CCDC176_ENST00000489323.1_3'UTR	NM_025057.2	NP_079333.2			coiled-coil domain containing 176									p.T106A(1)									ATTAAATGAAACAAAGGAAAA	0.358000													3	17					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277099	186277099	+	Missense_Mutation	SNP	G	G	A	rs143599637	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:186277099G>A	ENST00000445192.2	+	7	2293	c.2248G>A	c.(2248-2250)Gct>Act	p.A750T	PRG4_ENST00000367486.3_Missense_Mutation_p.A707T|PRG4_ENST00000367485.4_Missense_Mutation_p.A657T|PRG4_ENST00000367483.4_Missense_Mutation_p.A709T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	750	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.A750T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGACAAGCCCGCTCCAACTAC	0.607000													4	15					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363049	17363049	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:17363049C>A	ENST00000377602.4	-	8	1099	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	342					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G342V(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GGGCCAGAATCCATACAGCTT	0.433000													131	271					9.59235e-44	1.0922e-43	1	1	0
LOC401127	401127	broad.mit.edu	37	4	39482942	39482942	+	RNA	SNP	A	A	C	rs10010309	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr4:39482942A>C	ENST00000513652.1	+	0	949																											ACATCTGGAAACTTCAGACGA	0.453000													4	43					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977661	12977661	+	Silent	SNP	C	C	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:12977661C>T	ENST00000273221.4	-	3	1113	c.897G>A	c.(895-897)tcG>tcA	p.S299S		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	299					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	p.S299S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCACTGTACGAGGCCGTCA	0.687000													4	14					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105801076	105801076	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr10:105801076G>T	ENST00000353479.5	-	38	2922	c.2632C>A	c.(2632-2634)Ccc>Acc	p.P878T	COL17A1_ENST00000369733.3_Missense_Mutation_p.P878T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	878	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P878T(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCTCGGGGTCCTGGTGGG	0.647000													6	45					1.26484e-09	1.42605e-09	1	1	0
LARGE	9215	broad.mit.edu	37	22	33777944	33777944	+	Silent	SNP	G	G	A	rs144216539	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr22:33777944G>A	ENST00000354992.2	-	10	1663	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LARGE_ENST00000397394.2_Silent_p.T364T|LARGE_ENST00000402320.1_Silent_p.T364T|LARGE_ENST00000452586.2_Silent_p.T163T|LARGE_ENST00000437602.2_Silent_p.T364T|LARGE_ENST00000337431.2_Silent_p.T364T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	364					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.T364T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCTCGGAGCGGGTGTGGTCTG	0.552000													5	98					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312082	102312082	+	RNA	SNP	G	G	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr15:102312082G>C	ENST00000561463.1	+	0	13450																											TGGAGAGAAGGAGGTGGGGAT	0.602000													8	57					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628194	3628194	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr17:3628194G>A	ENST00000325418.4	+	1	984	c.965G>A	c.(964-966)cGc>cAc	p.R322H	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	322					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.R322H(1)									CCCAAGGGCCGCATTGTGCCA	0.582000													3	18					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401515	34401515	+	Frame_Shift_Del	DEL	G	G	-	rs150564422	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:34401515delG	ENST00000373381.4	-	4	734	c.558delC	c.(556-558)ccfs	p.P186fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	146	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGCCATTGGGCAGCCTCC	0.612													8	2109	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													53	303	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				8	230	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)cgtfs	p.R778fs	ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554													7	135	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179535845	179535845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:179535845delA	ENST00000589042.1	-	156	35504	c.35280delT	c.(35278-35280)gtfs	p.V11761fs	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.V11387fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.V10460fs|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9879	Glu-rich.|Pro-rich.						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)			TTCGAGGAACAACTTTAGTGG	0.353													48	87	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447378	226447379	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr2:226447378_226447379insC	ENST00000272907.6	+	4	1658_1659	c.1245_1246insC	c.(1243-1248)ccccccfs	p.PP415fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	415	Pro-rich.																CGTCGCCCCCACCCCCGTCTAC	0.678													2	4	---	---	---	---					
UBA7	7318	broad.mit.edu	37	3	49846857	49846860	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:49846857_49846860delTGTT	ENST00000333486.3	-	17	2284_2287	c.2126_2129delAACA	c.(2125-2130)agfs	p.KQ709fs		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	709					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGGACACTGTTTGGGACCTGA	0.564													7	45	---	---	---	---					
PFN2	5217	broad.mit.edu	37	3	149684345	149684346	+	Frame_Shift_Ins	INS	-	-	GACA			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr3:149684345_149684346insGACA	ENST00000239940.7	-	3	605_606	c.353_354insTGTC	c.(352-354)ggtfs	p.G118fs	PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000481275.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000475518.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000498307.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000497148.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Frame_Shift_Ins_p.G103fs|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Frame_Shift_Ins_p.G69fs			P35080	PROF2_HUMAN	profilin 2	118					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCCATGGACCCCTTCTTTTCC	0.396													18	204	---	---	---	---					
APBB2	323	broad.mit.edu	37	4	41015705	41015706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr4:41015705_41015706insG	ENST00000295974.8	-	6	1358_1359	c.729_730insC	c.(727-732)acactgfs	p.L244fs	APBB2_ENST00000506352.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000508593.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000513140.1_Frame_Shift_Ins_p.L244fs	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	244					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTGCACAGTCGGTTTTGGCCC	0.579													9	1229	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39203039	39203040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr5:39203039_39203040insC	ENST00000351578.6	-	2	213_214	c.23_24insG	c.(22-24)gaafs	p.E8fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	8					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGTT	0.446													7	324	---	---	---	---					
NCR3	259197	broad.mit.edu	37	6	31557857	31557858	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:31557857_31557858delCA	ENST00000376073.4	-	2	352_353	c.89_90delTG	c.(88-90)cfs	p.L30fs	NCR3_ENST00000376072.3_Frame_Shift_Del_p.L30fs|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376071.4_Frame_Shift_Del_p.L30fs|NCR3_ENST00000340027.5_Frame_Shift_Del_p.L30fs	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	30	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGGATCCTTCCAGGGTACGAAT	0.579													50	246	---	---	---	---					
ALDH8A1	64577	broad.mit.edu	37	6	135253995	135253996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:135253995_135253996insC	ENST00000265605.2	-	5	835_836	c.767_768insG	c.(766-768)gaafs	p.E256fs	ALDH8A1_ENST00000367845.2_Frame_Shift_Ins_p.E256fs|ALDH8A1_ENST00000367847.2_Frame_Shift_Ins_p.E206fs	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	256					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.G256D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CAGGATTCTTGCCCCCCAGCTC	0.619													7	246	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155750039	155750040	+	Frame_Shift_Ins	INS	-	-	G	rs79326507	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr6:155750039_155750040insG	ENST00000159060.2	-	9	1135_1136	c.1033_1034insC	c.(1033-1035)ggafs	p.G345fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	345	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAGTCCTCCTGGGGGGCAGAG	0.614													7	286	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													8	49	---	---	---	---					
OBP2A	29991	broad.mit.edu	37	9	138441685	138441686	+	Frame_Shift_Ins	INS	-	-	C	rs112851559	by1000genomes	TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr9:138441685_138441686insC	ENST00000340780.3	+	7	624_625	c.582_583insC	c.(580-585)caccccfs	p.HP194fs	OBP2A_ENST00000342114.4_3'UTR|OBP2A_ENST00000539850.1_3'UTR|OBP2A_ENST00000371776.1_3'UTR			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CAGCACAGCAGCCCCCGGGTCT	0.678													2	4	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124765393	124765394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:124765393_124765394insC	ENST00000306534.3	-	6	1480_1481	c.995_996insG	c.(994-996)gccfs	p.A332fs	ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.A187fs	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	332	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCTGTCAGGGCCTCGAGCCCG	0.609													7	166	---	---	---	---					
ACRV1	56	broad.mit.edu	37	11	125550635	125550645	+	Frame_Shift_Del	DEL	CCAAGCAGATA	CCAAGCAGATA	-			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr11:125550635_125550645delCCAAGCAGATA	ENST00000533904.1	-	1	373_383	c.31_41delTATCTGCTTGG	c.(31-42)afs	p.YLLG11fs	ACRV1_ENST00000445562.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000453509.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000345274.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000353070.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000257382.2_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000426183.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000433875.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000425431.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000348856.3_Frame_Shift_Del_p.YLLG11fs			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	11					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTGGCAGATCCAAGCAGATAAAGACTCATT	0.469													93	539	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2977901	2977910	+	Frame_Shift_Del	DEL	GGTCTCGAAG	GGTCTCGAAG	-	rs148573089		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr12:2977901_2977910delGGTCTCGAAG	ENST00000342628.2	-	4	778_787	c.665_674delCTTCGAGACC	c.(664-675)cafs	p.PSRP222fs	FOXM1_ENST00000361953.3_Frame_Shift_Del_p.PSRP222fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.PSRP222fs|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	222					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGACGCTGATGGTCTCGAAGGCTCCTCAAC	0.505													8	155	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													8	485	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													7	720	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42476034	42476035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr17:42476034_42476035insG	ENST00000434000.1	-	9	3458_3459	c.3176_3177insC	c.(3175-3177)ctcfs	p.L1059fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1137						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCAAGAGATGGGGGGAGCTT	0.554													9	634	---	---	---	---					
U2AF2	11338	broad.mit.edu	37	19	56171936	56171937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr19:56171936_56171937insC	ENST00000450554.2	+	4	1244_1245	c.285_286insC	c.(283-288)ccccccfs	p.PP95fs	U2AF2_ENST00000308924.4_Frame_Shift_Ins_p.PP95fs	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	95					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGACGTGCCACCCCCAGGCTT	0.634													7	117	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11071749	11071750	+	RNA	INS	-	-	ACTT	rs141387552		TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr21:11071749_11071750insACTT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctcagtgataacttaaccacc	0.485													2	4	---	---	---	---					
SH3BGR	6450	broad.mit.edu	37	21	40834329	40834330	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr21:40834329_40834330insT	ENST00000333634.4	+	2	341_342	c.263_264insT	c.(262-264)gttfs	p.V88fs	SH3BGR_ENST00000380634.1_5'UTR|SH3BGR_ENST00000380637.3_5'UTR|SH3BGR_ENST00000380631.1_5'UTR|SH3BGR_ENST00000458295.1_5'UTR	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	88					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GAAGTAGTGGGTTTTTTGGAAG	0.342													7	191	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3772-01A-01W-0928-08	TCGA-67-3772-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09226bc4-0202-4405-b3c9-208e8ffb7408	e21e8eca-7af6-43a3-90e3-73df460655fa	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	401	---	---	---	---					
