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
GRIK1	2897	broad.mit.edu	37	21	30949386	30949386	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:30949386T>A	ENST00000399914.1	-	13	2504	c.1983A>T	c.(1981-1983)gtA>gtT	p.V661V	GRIK1_ENST00000535441.1_Silent_p.V678V|GRIK1_ENST00000309434.7_Silent_p.V678V|GRIK1_ENST00000389125.3_Silent_p.V661V|GRIK1_ENST00000399907.1_Silent_p.V676V|GRIK1_ENST00000327783.4_Silent_p.V676V|GRIK1_ENST00000399913.1_Silent_p.V676V|GRIK1_ENST00000389124.2_Silent_p.V676V|GRIK1_ENST00000399909.1_Silent_p.V661V			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	676					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.V661V(1)|p.V676V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCATTCTCTCTACTGTCAAGA	0.453000													17	125					0	0	0.520397	0	0
KRT38	8687	broad.mit.edu	37	17	39595503	39595503	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39595503C>G	ENST00000246646.3	-	3	683	c.684G>C	c.(682-684)caG>caC	p.Q228H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	228	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.Q228_E229>H*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCAGGGACTCCTGCTGGGCCT	0.657000													16	84					0	0	0.608945	0	0
OR2M4	26245	broad.mit.edu	37	1	248402705	248402705	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:248402705G>A	ENST00000306687.1	+	1	475	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V159M(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGATCATAGTGCTTGCAGC	0.453000													90	264					0	0	0.870114	0	0
KMT2C	58508	broad.mit.edu	37	7	151917783	151917783	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:151917783C>G	ENST00000355193.2	-	23	3755	c.3537G>C	c.(3535-3537)ttG>ttC	p.L1179F	KMT2C_ENST00000262189.6_Missense_Mutation_p.L1179F					lysine (K)-specific methyltransferase 2C									p.L1179F(2)									CTGATTCAGTCAAACACACAC	0.348000													6	60					0	0	0.335167	0	0
ARRDC2	27106	broad.mit.edu	37	19	18120660	18120660	+	Missense_Mutation	SNP	G	G	A	rs147746417		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:18120660G>A	ENST00000222250.4	+	5	804	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.V216M	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	221								p.V221M(1)|p.V216M(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TCGGGCAGCCGTGGTGCAGAC	0.682000													3	33					0	0	0.184627	0	0
CDKL5	6792	broad.mit.edu	37	X	18606111	18606111	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:18606111G>T	ENST00000379989.3	+	10	877	c.592G>T	c.(592-594)Ggc>Tgc	p.G198C	CDKL5_ENST00000379996.3_Missense_Mutation_p.G198C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	198	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.G198C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGTCGGTGGGCTGTATTCT	0.408000													96	589					2.96273e-59	3.7741e-59	0.870114	1	0
MGAT4C	25834	broad.mit.edu	37	12	86373302	86373302	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:86373302C>G	ENST00000604798.1	-	8	2406	c.1202G>C	c.(1201-1203)cGg>cCg	p.R401P	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R401P|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R401P|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R430P|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R401P|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R401P			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	401					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R401P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCATTTTGCCGATCTTCTGT	0.343000													18	64					0	0	0.624587	0	0
XAB2	56949	broad.mit.edu	37	19	7692716	7692716	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:7692716G>A	ENST00000358368.4	-	3	259	c.222C>T	c.(220-222)taC>taT	p.Y74Y	XAB2_ENST00000534844.1_Silent_p.Y71Y	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	74					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.Y71Y(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGCCTTCAGGTATCGGTACC	0.552000								Direct reversal of damage;Nucleotide excision repair (NER)					7	47					0	0	0.278610	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334782	122334782	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:122334782C>T	ENST00000398250.1	+	6	937	c.585C>T	c.(583-585)tcC>tcT	p.S195S	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.S195S|PPAPDC1A_ENST00000439221.1_Silent_p.S132S|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000369073.3_Silent_p.S185S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	195	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.S195S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTGCCCTGTCCCGCATGTGCG	0.617000													24	261					0	0	0.706142	0	0
BAGE2	85319	broad.mit.edu	37	21	11039022	11039022	+	RNA	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:11039022C>A	ENST00000470054.1	-	0	1181									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)		TTCACACAACCCTCAATTGTA	0.378000													33	1337					2.4624e-09	2.71927e-09	0.575678	1	0
SDK1	221935	broad.mit.edu	37	7	4116733	4116733	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:4116733C>A	ENST00000404826.2	+	21	3253	c.3114C>A	c.(3112-3114)ctC>ctA	p.L1038L	SDK1_ENST00000389531.3_Silent_p.L1038L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1038	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.L1038L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCTCATCTCTCACCACCTACA	0.567000													12	107					3.27435e-08	3.55204e-08	0.457914	1	0
LRP1B	53353	broad.mit.edu	37	2	141299477	141299477	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:141299477A>G	ENST00000389484.3	-	44	8229	c.7258T>C	c.(7258-7260)Tgg>Cgg	p.W2420R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2420					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W2420R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCGACCAGAATATATAA	0.383000										TSP Lung(27;0.18)			47	78					0	0	0.870114	0	0
SRP68	6730	broad.mit.edu	37	17	74046604	74046604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:74046604C>A	ENST00000307877.2	-	9	1143	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	SRP68_ENST00000355113.5_Nonsense_Mutation_p.E227*|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000539137.1_Nonsense_Mutation_p.E290*|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	328					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	p.E328K(1)|p.E328*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCTTCGCTTTCAGCCTAAACA	0.512000													24	128					1.17739e-12	1.34873e-12	0.693898	1	0
NTRK3	4916	broad.mit.edu	37	15	88524565	88524565	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:88524565C>G	ENST00000317501.3	-	14	1773	c.1612G>C	c.(1612-1614)Ggg>Cgg	p.G538R	NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.G538R|NTRK3_ENST00000357724.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G538R(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tttaatatcccatgattgtct	0.418000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			41	152					0	0	0.870114	0	0
OPHN1	4983	broad.mit.edu	37	X	67518843	67518843	+	Splice_Site	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:67518843C>A	ENST00000355520.5	-	3	891	c.250_splice	c.e3+1	p.A84_splice	OPHN1_ENST00000540071.1_Splice_Site_p.A84_splice	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	84					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.A84S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAGACTTACCGATGTTAATT	0.413000													34	159					1.47197e-15	1.71823e-15	0.834066	1	0
ZIM3	114026	broad.mit.edu	37	19	57646337	57646337	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:57646337G>A	ENST00000269834.1	-	5	1753	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F456F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTGTCAGCGAAGGCTTTAC	0.403000													7	274					0	0	0.361761	0	0
CSPG5	10675	broad.mit.edu	37	3	47610668	47610668	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:47610668T>C	ENST00000383738.2	-	4	3530	c.1432A>G	c.(1432-1434)Acc>Gcc	p.T478A	CSPG5_ENST00000264723.4_Missense_Mutation_p.T478A|CSPG5_ENST00000456150.1_Missense_Mutation_p.T340A	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	478					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	p.T478A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCGGCAATGGTGGAGAGGGAG	0.498000													12	51					0	0	0.457914	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42108784	42108784	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:42108784G>C	ENST00000457542.2	+	13	1807	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E513D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E346D|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E390D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E507D	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	513								p.E507D(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCTGAGTGAGATGCTGAAGG	0.582000													5	32					0	0	0.184627	0	0
KRT38	8687	broad.mit.edu	37	17	39595502	39595502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39595502C>A	ENST00000246646.3	-	3	684	c.685G>T	c.(685-687)Gag>Tag	p.E229*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	229	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.Q228_E229>H*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTCAGGGACTCCTGCTGGGCC	0.657000													14	84					9.7654e-05	0.000103023	0.557998	1	0
OR51A2	401667	broad.mit.edu	37	11	4976704	4976704	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:4976704C>A	ENST00000380371.1	-	1	239	c.240G>T	c.(238-240)ctG>ctT	p.L80L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L80H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACAGTGGGCAGAGATGATA	0.438000													120	140					5.753e-54	7.29823e-54	0.870114	1	0
PHB2	11331	broad.mit.edu	37	12	7077178	7077178	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:7077178G>A	ENST00000535923.1	-	5	765	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PHB2_ENST00000440277.1_Silent_p.L162L|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Silent_p.L162L|PHB2_ENST00000399433.2_Silent_p.L162L	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	162	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	p.L162L(1)		ovary(2)|pancreas(1)	3						CGGATCAACAGGGATACCTga	0.582000													10	23					0	0	0.361761	0	0
CAPN3	825	broad.mit.edu	37	15	42678468	42678468	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:42678468G>A	ENST00000397163.3	+	3	702	c.483G>A	c.(481-483)ggG>ggA	p.G161G	CAPN3_ENST00000356316.3_Silent_p.G74G|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.G161G|CAPN3_ENST00000318023.7_Silent_p.G161G|CAPN3_ENST00000357568.3_Silent_p.G161G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	161	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.G74G(1)|p.G161G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACTACGCAGGGATCTTCCACT	0.547000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	150					0	0	0.864702	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230148	155230148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155230148G>A	ENST00000355379.3	-	3	561	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Nonsense_Mutation_p.Q121*	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	121					post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.Q121*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGCATGCTGCAGCTCTCGC	0.587000													21	126					0	0	0.667858	0	0
TRERF1	55809	broad.mit.edu	37	6	42224500	42224500	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:42224500A>C	ENST00000541110.1	-	12	3174	c.2606T>G	c.(2605-2607)tTg>tGg	p.L869W	TRERF1_ENST00000354325.2_Missense_Mutation_p.L766W|TRERF1_ENST00000340840.2_Missense_Mutation_p.L766W|TRERF1_ENST00000372922.4_Missense_Mutation_p.L849W|TRERF1_ENST00000372917.4_Missense_Mutation_p.L766W			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	849	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.L849W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAGAGTGCAAAGCAAATTC	0.418000													18	213					0	0	0.624587	0	0
DNAH11	8701	broad.mit.edu	37	7	21630855	21630855	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:21630855C>T	ENST00000328843.6	+	14	2358	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	DNAH11_ENST00000409508.3_Missense_Mutation_p.T776M			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	776	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T776M(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCAAACAGACGCTCCTGGAA	0.448000									Kartagener syndrome				12	80					0	0	0.479597	0	0
C8orf33	65265	broad.mit.edu	37	8	146278275	146278275	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:146278275G>A	ENST00000331434.6	+	2	424	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	104								p.E104K(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CCTAAGCGCTGAGGCCCAGGC	0.602000													4	11					0	0	0.150653	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350944	50350944	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:50350944C>A	ENST00000376020.2	-	6	3223	c.3198G>T	c.(3196-3198)gcG>gcT	p.A1066A	SHROOM4_ENST00000289292.7_Silent_p.A1066A|SHROOM4_ENST00000460112.3_Silent_p.A950A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1066					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.A1066A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGCTTTGGGGCGCCAAGCTGA	0.587000													6	50					0.0381472	0.0386508	0.278610	1	0
C14orf178	283579	broad.mit.edu	37	14	78235900	78235900	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:78235900C>G	ENST00000355883.3	+	3	457	c.248C>G	c.(247-249)tCt>tGt	p.S83C	C14orf178_ENST00000557011.1_3'UTR|C14orf178_ENST00000439131.2_Missense_Mutation_p.S53C|C14orf178_ENST00000556047.1_3'UTR	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	83								p.S83C(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GTGAAAGATTCTACCTTTCTA	0.507000													5	17					0	0	0.184627	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472402	66472402	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:66472402G>A	ENST00000533211.1	-	15	2676	c.2345C>T	c.(2344-2346)aCg>aTg	p.T782M	SPTBN2_ENST00000309996.2_Missense_Mutation_p.T782M|SPTBN2_ENST00000529997.1_Missense_Mutation_p.T782M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	782					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.T782M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAGAGCCTGCGTGGAGAACTC	0.662000													14	40					0	0	0.539581	0	0
PCLO	27445	broad.mit.edu	37	7	82595703	82595703	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:82595703G>A	ENST00000423517.2	-	4	3738	c.3401C>T	c.(3400-3402)gCa>gTa	p.A1134V	PCLO_ENST00000333891.8_Missense_Mutation_p.A1134V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1073					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A1134V(2)|p.A1073V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATAGGAGATGCTTTGGGTCC	0.423000													20	166					0	0	0.624587	0	0
MYH13	8735	broad.mit.edu	37	17	10212691	10212691	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:10212691T>C	ENST00000418404.3	-	34	5192	c.5029A>G	c.(5029-5031)Atc>Gtc	p.I1677V	MYH13_ENST00000252172.4_Missense_Mutation_p.I1677V|MYH13_ENST00000570743.1_Missense_Mutation_p.I1677V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1677					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.I1677V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGCTCCACGATGGCCAGCTGC	0.642000													6	25					0	0	0.278610	0	0
FCRL3	115352	broad.mit.edu	37	1	157665172	157665172	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:157665172G>T	ENST00000368184.3	-	8	1649	c.1358C>A	c.(1357-1359)gCa>gAa	p.A453E	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A453E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	453	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.A453E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCATTGTCTGCATCACAGGA	0.537000													55	635					1.93748e-29	2.40812e-29	0.870114	1	0
C1orf74	148304	broad.mit.edu	37	1	209956824	209956824	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:209956824T>A	ENST00000294811.1	-	2	412	c.156A>T	c.(154-156)ccA>ccT	p.P52P		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	52								p.P52P(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AGAGCACAGCTGGCTTCAGTC	0.577000													27	203					0	0	0.693898	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450161	105450161	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:105450161G>C	ENST00000337685.2	+	5	1521	c.736G>C	c.(736-738)Gat>Cat	p.D246H	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D246H|MUM1L1_ENST00000357175.2_Missense_Mutation_p.D246H	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	246								p.D246H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGTCATCAGATATGCTCAT	0.433000													12	104					0	0	0.411799	0	0
PRR19	284338	broad.mit.edu	37	19	42813884	42813884	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:42813884C>T	ENST00000499536.2	+	1	959	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PRR19_ENST00000341747.3_Missense_Mutation_p.R50W|PRR19_ENST00000598490.1_Missense_Mutation_p.R50W			A6NJB7	PRR19_HUMAN	proline rich 19	50								p.R50W(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGTGGCCATTCGGGATCCACC	0.637000													6	28					0	0	0.307466	0	0
PLEC	5339	broad.mit.edu	37	8	144994218	144994218	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:144994218G>A	ENST00000322810.4	-	32	10351	c.10182C>T	c.(10180-10182)atC>atT	p.I3394I	PLEC_ENST00000357649.2_Silent_p.I3261I|PLEC_ENST00000345136.3_Silent_p.I3257I|PLEC_ENST00000398774.2_Silent_p.I3225I|PLEC_ENST00000436759.2_Silent_p.I3284I|PLEC_ENST00000354958.2_Silent_p.I3235I|PLEC_ENST00000354589.3_Silent_p.I3257I|PLEC_ENST00000356346.3_Silent_p.I3243I|PLEC_ENST00000527096.1_Silent_p.I3280I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3394	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.I3284I(1)|p.I3394I(1)|p.I3257I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTCAGAGCTGATGAGCTCCC	0.587000													11	36					0	0	0.435327	0	0
TAF3	83860	broad.mit.edu	37	10	8007006	8007006	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:8007006G>A	ENST00000344293.5	+	3	1739	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	511	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.E511E(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGTATGAGGAGAAAACCAAGC	0.453000													20	200					0	0	0.654019	0	0
TCHH	7062	broad.mit.edu	37	1	152083948	152083948	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152083948T>A	ENST00000368804.1	-	2	1744	c.1745A>T	c.(1744-1746)gAg>gTg	p.E582V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	582	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E582V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTCCTCGCGCTTCAG	0.667000													7	43					0	0	0.307466	0	0
TRMT5	57570	broad.mit.edu	37	14	61446167	61446167	+	Missense_Mutation	SNP	G	G	C	rs146315661		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:61446167G>C	ENST00000261249.6	-	2	833	c.449C>G	c.(448-450)tCc>tGc	p.S150C	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	150						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	p.S150C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTCTCAAAGGAATCATGAGT	0.373000													27	104					0	0	0.729181	0	0
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:51411989C>A	ENST00000319760.6	-	1	459	c.407G>T	c.(406-408)cGa>cTa	p.R136L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCAAACCTGTCGATTCATGAT	0.478000													39	300					1.06522e-23	1.29771e-23	0.864702	1	0
LCN12	286256	broad.mit.edu	37	9	139847406	139847406	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:139847406G>A	ENST00000371633.3	+	2	177	c.177G>A	c.(175-177)gcG>gcA	p.A59A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	59					lipid metabolic process	extracellular region	binding|transporter activity	p.A59A(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGCACAGGGCGCTGCTGAACG	0.627000													7	53					0	0	0.335167	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726495	25726495	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:25726495C>T	ENST00000297012.3	-	1	295	c.261G>A	c.(259-261)gcG>gcA	p.A87A		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	87					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A87A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CATTGCGGATCGCTAGCTGCA	0.527000													36	194					0	0	0.827153	0	0
CCDC97	90324	broad.mit.edu	37	19	41828552	41828552	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:41828552G>A	ENST00000269967.3	+	5	1086	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	322								p.E322K(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GGCACGGGATGAGGAGGAGAG	0.627000													63	442					0	0	0.870114	0	0
ANKRD16	54522	broad.mit.edu	37	10	5922263	5922263	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:5922263G>C	ENST00000380094.5	-	6	1469	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.S309*|ANKRD16_ENST00000191063.8_Intron	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	309								p.S309*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AACGGTACCTGATCGATTTTT	0.284000													3	35					0	0	0.217242	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	70					0	0	0.387290	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	21					0	0	0.750413	0	0
RNF20	56254	broad.mit.edu	37	9	104323505	104323505	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:104323505G>C	ENST00000389120.3	+	18	2732	c.2642G>C	c.(2641-2643)cGa>cCa	p.R881P		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	881					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R881P(1)|p.R881Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTTCAAACGAGCCCAGGTA	0.403000													122	300					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:7578455C>G	ENST00000420246.2	-	5	607	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCCATGGCGCGGACGCGG	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	162					0	0	0.827153	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299565	112299565	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:112299565A>G	ENST00000492406.1	+	6	884	c.601A>G	c.(601-603)Aga>Gga	p.R201G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	201						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	p.R201G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGAGTGTCCCAGAAAAGACAA	0.453000													21	175					0	0	0.639603	0	0
ZNF425	155054	broad.mit.edu	37	7	148801601	148801601	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:148801601C>T	ENST00000378061.2	-	4	1494	c.1362G>A	c.(1360-1362)agG>agA	p.R454R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	454					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R454R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCATGGCGTTCCTCCAGAAGA	0.657000													4	32					0	0	0.150653	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995615	140995615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:140995615C>G	ENST00000285879.4	+	4	2711	c.2425C>G	c.(2425-2427)Cct>Gct	p.P809A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	809							protein binding	p.P809A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCAGTCTCCTCTCCAGAG	0.557000										HNSCC(15;0.026)			91	234					0	0	0.870114	0	0
IL6R	3570	broad.mit.edu	37	1	154420621	154420621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:154420621G>C	ENST00000368485.3	+	7	1407	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Missense_Mutation_p.E324Q	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	324					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.E324Q(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCCAGCTGAGAACGAGGT	0.542000													20	133					0	0	0.667858	0	0
KLHL3	26249	broad.mit.edu	37	5	137056262	137056262	+	Missense_Mutation	SNP	C	C	G	rs138386996		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:137056262C>G	ENST00000309755.4	-	2	469	c.26G>C	c.(25-27)aGc>aCc	p.S9T	KLHL3_ENST00000394937.3_Missense_Mutation_p.S9T|KLHL3_ENST00000508657.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	9						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.S9T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGTCTGGGAGCTCAGCTTGAC	0.488000													125	412					0	0	0.870114	0	0
P2RX6	9127	broad.mit.edu	37	22	21377428	21377428	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr22:21377428C>A	ENST00000413302.2	+	6	727	c.579C>A	c.(577-579)gcC>gcA	p.A193A	P2RX6_ENST00000336296.2_Silent_p.A183A|P2RX6_ENST00000401443.1_Silent_p.A167A|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.A140A			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	193					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.A183A(1)									TGGCCCAGGCCCAGAACTTCA	0.582000													19	57					1.50039e-11	1.706e-11	0.608945	1	0
C1orf186	440712	broad.mit.edu	37	1	206241647	206241647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:206241647C>A	ENST00000331555.5	-	4	780	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	48						integral to membrane		p.A48S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGAGACTGGCCGCTTTCAGT	0.557000													6	57					0.00198382	0.00206452	0.248553	1	0
PXN	5829	broad.mit.edu	37	12	120650309	120650309	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:120650309G>A	ENST00000397506.3	-	9	2073	c.1020C>T	c.(1018-1020)caC>caT	p.H340H	PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000458477.2_Silent_p.H361H|PXN_ENST00000267257.7_Silent_p.H542H|PXN_ENST00000228307.7_Silent_p.H528H|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.H494H|PXN_ENST00000536957.1_Silent_p.H526H|PXN-AS1_ENST00000535200.1_RNA			P49023	PAXI_HUMAN	paxillin	528					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.H528H(1)|p.H494H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCGCCGCTCGTGGTAGTGCA	0.642000													5	28					0	0	0.217242	0	0
ZNF568	374900	broad.mit.edu	37	19	37441464	37441464	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:37441464G>C	ENST00000415168.1	+	5	1593	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.G470A	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G470A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACACTGGAGAGAAACCT	0.398000													14	67					0	0	0.520397	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110851	31110851	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:31110851G>A	ENST00000396268.3	-	17	2568	c.2380C>T	c.(2380-2382)Ctt>Ttt	p.L794F	CCHCR1_ENST00000396263.2_Missense_Mutation_p.L652F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L758F|CCHCR1_ENST00000376266.5_Missense_Mutation_p.L705F	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	705					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.L705F(1)|p.L794F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGGGAAGGAAGAACTGTCAAC	0.567000													121	320					0	0	0.870114	0	0
HIPK4	147746	broad.mit.edu	37	19	40886395	40886395	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:40886395G>T	ENST00000291823.2	-	3	1787	c.1503C>A	c.(1501-1503)ttC>ttA	p.F501L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	501						cytoplasm	ATP binding|protein serine/threonine kinase activity	p.F501L(1)|p.F426L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGGTTGCTGAAGTTGGAGT	0.667000													25	212					2.41591e-17	2.87475e-17	0.681144	1	0
HECTD4	283450	broad.mit.edu	37	12	112600871	112600871	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:112600871C>T	ENST00000550722.1	-	75	13052	c.12657G>A	c.(12655-12657)aaG>aaA	p.K4219K	HECTD4_ENST00000430131.2_Silent_p.K3943K|HECTD4_ENST00000377560.5_Silent_p.K4193K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.K3943K(1)|p.K4193K(1)									GGGGGGCGATCTTCATGGGGT	0.617000													23	141					0	0	0.706142	0	0
MED1	5469	broad.mit.edu	37	17	37564803	37564803	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:37564803G>A	ENST00000300651.6	-	17	3894	c.3671C>T	c.(3670-3672)cCt>cTt	p.P1224L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1224	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1224L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGAACTGATAGGGGACTTGGC	0.507000										HNSCC(31;0.082)			11	48					0	0	0.361761	0	0
ERLIN2	11160	broad.mit.edu	37	8	37607085	37607085	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:37607085G>C	ENST00000276461.5	+	7	500	c.433G>C	c.(433-435)Gat>Cat	p.D145H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D145H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	145					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	p.D145H(1)		NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGATCAGATTGATGAAAATCT	0.478000													16	96					0	0	0.557998	0	0
P2RY4	5030	broad.mit.edu	37	X	69478529	69478529	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:69478529G>C	ENST00000374519.2	-	1	1125	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	316					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Q316E(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TGACGGAGCTGACGTCGATAT	0.607000													11	63					0	0	0.387290	0	0
GABRA2	2555	broad.mit.edu	37	4	46314600	46314600	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:46314600T>G	ENST00000510861.1	-	5	562	c.389A>C	c.(388-390)aAt>aCt	p.N130T	GABRA2_ENST00000356504.1_Missense_Mutation_p.N130T|GABRA2_ENST00000540012.1_Missense_Mutation_p.N75T|GABRA2_ENST00000507069.1_Missense_Mutation_p.N130T|GABRA2_ENST00000514090.1_Missense_Mutation_p.N130T|GABRA2_ENST00000515082.1_Missense_Mutation_p.N130T|GABRA2_ENST00000381620.4_Missense_Mutation_p.N130T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	130					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.N130T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTTTCCCATTGTGAAAAAA	0.353000													34	238					0	0	0.812448	0	0
TGM3	7053	broad.mit.edu	37	20	2290900	2290900	+	Silent	SNP	G	G	A	rs140997555		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:2290900G>A	ENST00000381458.5	+	3	321	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	86					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A86A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTGGAGTGCGGTGCTTCAGG	0.562000													70	234					0	0	0.870114	0	0
SMAD3	4088	broad.mit.edu	37	15	67473637	67473637	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:67473637G>A	ENST00000327367.4	+	6	1027	c.717G>A	c.(715-717)gaG>gaA	p.E239E	SMAD3_ENST00000439724.3_Silent_p.E195E|SMAD3_ENST00000540846.2_Silent_p.E134E|SMAD3_ENST00000537194.2_Silent_p.E44E	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	239	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.E239E(1)|p.E195E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTACTACGAGCTGAACCAGC	0.612000													13	85					0	0	0.500413	0	0
HSPA2	3306	broad.mit.edu	37	14	65008589	65008589	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:65008589G>T	ENST00000247207.6	+	1	1404	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	HSPA2_ENST00000394709.1_Missense_Mutation_p.G341V	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	341					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	p.G341V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GTGCTGGTGGGCGGCTCCACT	0.617000													7	33					0.00307968	0.00317269	0.278610	1	0
MLF1	4291	broad.mit.edu	37	3	158311211	158311211	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:158311211G>A	ENST00000478894.2	+	4	557	c.161G>A	c.(160-162)gGt>gAt	p.G54D	MLF1_ENST00000471745.1_Missense_Mutation_p.G54D|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.G95D|MLF1_ENST00000355893.5_Intron|MLF1_ENST00000482628.1_Intron|MLF1_ENST00000359117.5_Intron|MLF1_ENST00000497004.1_Splice_Site|MLF1_ENST00000484955.1_Intron	NM_001195432.1	NP_001182361.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	65	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GATTTTGGTGGTATGGTTCGT	0.323000			T	NPM1	AML								5	17					0	0	0.278610	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:145038046C>G	ENST00000360771.4	-	5	433	c.318G>C	c.(316-318)acG>acC	p.T106T	GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000512064.1_Silent_p.T93T	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000													6	237					0	0	0.307466	0	0
PANK3	79646	broad.mit.edu	37	5	167995708	167995708	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:167995708C>G	ENST00000239231.6	-	2	640	c.324G>C	c.(322-324)caG>caC	p.Q108H		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	108					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	p.Q108H(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATAGCACCGTCTGCAATGTTG	0.398000													6	93					0	0	0.278610	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738310	19738310	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:19738310C>T	ENST00000222567.5	-	4	716	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	216						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E216K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTGCCATTTTCTGTAACTTCT	0.333000													8	101					0	0	0.335167	0	0
LST3	0	broad.mit.edu	37	12	21242939	21242939	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:21242939G>T	ENST00000540229.1	+	16	2211	c.2146G>T	c.(2146-2148)Gat>Tat	p.D716Y	RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.D655Y|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D655Y|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D716Y|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.D608Y														p.D608Y(1)									CCATGGAAAGGATACCAAAGT	0.343000													26	75					2.48779e-11	2.81828e-11	0.693898	1	0
ELTD1	64123	broad.mit.edu	37	1	79412033	79412033	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:79412033C>T	ENST00000370742.3	-	3	314	c.251G>A	c.(250-252)tGt>tAt	p.C84Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	84	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.C84Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363000													9	59					0	0	0.335167	0	0
NLRP2	55655	broad.mit.edu	37	19	55481465	55481465	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:55481465T>A	ENST00000543010.1	+	2	225	c.82T>A	c.(82-84)Tat>Aat	p.Y28N	NLRP2_ENST00000263437.6_Missense_Mutation_p.Y28N|NLRP2_ENST00000391721.4_Missense_Mutation_p.Y28N|NLRP2_ENST00000448584.2_Missense_Mutation_p.Y28N|NLRP2_ENST00000537859.1_Missense_Mutation_p.Y28N|NLRP2_ENST00000427260.2_Missense_Mutation_p.Y28N|NLRP2_ENST00000339757.7_Missense_Mutation_p.Y28N|NLRP2_ENST00000538819.1_Missense_Mutation_p.Y28N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	28	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.Y28N(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAAGTTCAAGTATCTGATCAC	0.557000													14	126					0	0	0.479597	0	0
OVCH2	341277	broad.mit.edu	37	11	7718296	7718296	+	RNA	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:7718296G>T	ENST00000454689.1	-	0	975				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.H326N(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGGGAAGTGCAGCTTCCCC	0.552000													13	35					6.94344e-10	7.72332e-10	0.539581	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22354963	22354963	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:22354963G>A	ENST00000396037.4	-	5	1075	c.594C>T	c.(592-594)aaC>aaT	p.N198N	ST8SIA1_ENST00000539510.1_Silent_p.N55N	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	198					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N198N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ACCACAGAAGGTTCTGAAACC	0.388000													16	74					0	0	0.539581	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552716	42552716	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:42552716C>A	ENST00000289957.2	+	1	155	c.27C>A	c.(25-27)ctC>ctA	p.L9L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	9					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.L9L(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGCTGGTTCTCATCGTCCTTG	0.413000													16	157					3.08376e-08	3.35715e-08	0.654019	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714505	70714505	+	RNA	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:70714505C>A	ENST00000530196.1	-	0	13					NR_003951.1																						TGTGTCCTGGCAGAGCAATGT	0.478000													15	103					0.000308642	0.000323389	0.479597	1	0
PCK1	5105	broad.mit.edu	37	20	56138667	56138667	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:56138667C>A	ENST00000319441.4	+	6	1009	c.845C>A	c.(844-846)gCc>gAc	p.A282D	PCK1_ENST00000535860.1_Missense_Mutation_p.A150D|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	282					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A282D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TACCTGGCGGCCGCATTTCCC	0.557000													20	35					1.64113e-05	1.7494e-05	0.592651	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51633160	51633160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:51633160G>T	ENST00000250360.3	+	7	1283	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	406					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.E406*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCCCCTGACTGAACCTTGGGC	0.607000													24	100					8.88839e-20	1.07009e-19	0.750413	1	0
THBS2	7058	broad.mit.edu	37	6	169629774	169629774	+	Splice_Site	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:169629774C>T	ENST00000366787.3	-	15	2401	c.2151_splice	c.e15-1	p.D718_splice	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	718					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.D718N(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGCAGTTATCCTGCAATTGG	0.493000													8	72					0	0	0.307466	0	0
SIK2	23235	broad.mit.edu	37	11	111583037	111583037	+	Missense_Mutation	SNP	C	C	G	rs139007229	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:111583037C>G	ENST00000304987.3	+	9	1377	c.1204C>G	c.(1204-1206)Cca>Gca	p.P402A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	402					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P402A(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTTTTCATTTCCAGCATCTGG	0.547000													5	102					0	0	0.184627	0	0
RXFP2	122042	broad.mit.edu	37	13	32349457	32349457	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:32349457A>G	ENST00000298386.2	+	7	643	c.572A>G	c.(571-573)tAt>tGt	p.Y191C	RXFP2_ENST00000380314.1_Missense_Mutation_p.Y191C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	191						integral to membrane|plasma membrane		p.Y191C(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTTGTAGATATCTCAACCAC	0.368000													43	241					0	0	0.870114	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39191048	39191048	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39191048C>G	ENST00000344363.5	-	1	59	c.26G>C	c.(25-27)tGt>tCt	p.C9S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	9						extracellular region|keratin filament	structural constituent of epidermis	p.C9S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGGATATCCACAGAAGCTGGT	0.592000													13	96					0	0	0.539581	0	0
TCEANC	170082	broad.mit.edu	37	X	13680667	13680667	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:13680667A>G	ENST00000380600.1	+	2	127	c.40A>G	c.(40-42)Att>Gtt	p.I14V	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.I14V|TCEANC_ENST00000314720.4_Missense_Mutation_p.I44V|TCEANC_ENST00000545566.1_Missense_Mutation_p.I14V			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	14	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.I14V(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTCTTATTGAGCAACT	0.418000													32	244					0	0	0.819951	0	0
MOV10L1	54456	broad.mit.edu	37	22	50582592	50582592	+	Missense_Mutation	SNP	G	G	T	rs147541728		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr22:50582592G>T	ENST00000262794.5	+	18	2508	c.2425G>T	c.(2425-2427)Gtg>Ttg	p.V809L	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.V809L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V789L|MOV10L1_ENST00000545383.1_Missense_Mutation_p.V809L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	809					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.V809L(1)|p.V789L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTGACCTCGTGTGTCTGCG	0.582000													7	172					0.0293803	0.0298668	0.248553	1	0
PHF20L1	51105	broad.mit.edu	37	8	133848837	133848837	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:133848837G>A	ENST00000395386.2	+	16	2261	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	PHF20L1_ENST00000395390.2_Silent_p.L629L|PHF20L1_ENST00000220847.7_Silent_p.L41L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	654							nucleic acid binding|zinc ion binding	p.L628L(1)|p.L654L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTTTGCTTCTGAGTGGGGATG	0.343000													24	188					0	0	0.717897	0	0
FOLR4	390243	broad.mit.edu	37	11	94040706	94040706	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:94040706C>T	ENST00000440961.2	+	4	624	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	201						extracellular region	folic acid binding|receptor activity	p.R195W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCTGAGCGACGGAACAGTGG	0.612000													74	654					0	0	0.870114	0	0
GRIK3	2899	broad.mit.edu	37	1	37346391	37346391	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:37346391G>T	ENST00000373091.3	-	3	410	c.394C>A	c.(394-396)Cac>Aac	p.H132N	GRIK3_ENST00000373093.4_Missense_Mutation_p.H132N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	132					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.H132N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGCTGGATGTGGGGCACCTCC	0.622000													16	137					1.15088e-07	1.23972e-07	0.500413	1	0
ACADS	35	broad.mit.edu	37	12	121175683	121175683	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:121175683C>T	ENST00000242592.4	+	5	667	c.516C>T	c.(514-516)gcC>gcT	p.A172A	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	172						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.A172A(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCGCCCGGGCCGAGGGCGACT	0.657000													8	28					0	0	0.335167	0	0
PEG3	5178	broad.mit.edu	37	19	57327147	57327147	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:57327147T>A	ENST00000326441.9	-	10	3026	c.2663A>T	c.(2662-2664)aAt>aTt	p.N888I	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N888I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N764I|PEG3_ENST00000593695.1_Missense_Mutation_p.N762I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	888					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N888I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAGTTGCGATTCTTACTGCC	0.448000													30	179					0	0	0.740014	0	0
NTNG2	84628	broad.mit.edu	37	9	135073529	135073529	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:135073529C>A	ENST00000393229.3	+	3	1166	c.390C>A	c.(388-390)acC>acA	p.T130T	NTNG2_ENST00000372179.3_Silent_p.T130T|NTNG2_ENST00000393228.4_Silent_p.T130T|NTNG2_ENST00000360670.3_Silent_p.T130T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	130	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.V131M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGAACAAGACCGTGGAGCTGA	0.642000													6	29					0.00307968	0.00317269	0.278610	1	0
CUL4A	8451	broad.mit.edu	37	13	113883759	113883759	+	Splice_Site	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:113883759G>C	ENST00000451881.1	+	5	387		c.e5-1		CUL4A_ENST00000463426.1_Splice_Site|CUL4A_ENST00000375441.3_Splice_Site|CUL4A_ENST00000375440.4_Splice_Site|CUL4A_ENST00000326335.4_Splice_Site	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A						cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTGCTGGTCAGATCATGATCA	0.473000													13	82					0	0	0.457914	0	0
SRP68	6730	broad.mit.edu	37	17	74046574	74046574	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:74046574C>G	ENST00000307877.2	-	9	1173	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	SRP68_ENST00000355113.5_Missense_Mutation_p.E237Q|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.E300Q|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	338					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	p.E338Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AGCATTGATTCAAACAGGCGC	0.527000													32	170					0	0	0.812448	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	T	C	rs10412126	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:23405580T>C	ENST00000418100.1	-	4	1584	c.1467A>G	c.(1465-1467)ctA>ctG	p.L489L																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGTGAGGATAGGTTAAAAG	0.383000													3	62					0	0	0.150653	0	0
MYH1	4619	broad.mit.edu	37	17	10409227	10409227	+	Silent	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:10409227A>T	ENST00000226207.5	-	19	2170	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	692	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L692L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCAGGACAAGCTCATGCT	0.478000													18	136					0	0	0.575678	0	0
ANKLE2	23141	broad.mit.edu	37	12	133318046	133318046	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:133318046T>C	ENST00000539605.1	-	6	7877	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	ANKLE2_ENST00000357997.5_Missense_Mutation_p.K460R|ANKLE2_ENST00000337516.5_Missense_Mutation_p.K460R			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	460						cytoplasm|integral to membrane|nuclear envelope		p.K460R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCCACAGATTTATTTTTGCT	0.413000													28	66					0	0	0.740014	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745477	77745477	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:77745477G>A	ENST00000409088.3	-	3	1932	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	LRRTM4_ENST00000409093.1_Silent_p.C506C|LRRTM4_ENST00000409282.1_Silent_p.C507C|LRRTM4_ENST00000409884.1_Silent_p.C506C|LRRTM4_ENST00000409911.1_Silent_p.C507C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	506						integral to membrane		p.C506C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTATATGTGCAGGGCCCAG	0.448000													9	49					0	0	0.435327	0	0
MAEA	10296	broad.mit.edu	37	4	1309203	1309203	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:1309203G>A	ENST00000303400.4	+	3	334	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MAEA_ENST00000505839.1_Missense_Mutation_p.A43T|MAEA_ENST00000505177.2_Missense_Mutation_p.A91T|MAEA_ENST00000452175.2_Intron|MAEA_ENST00000264750.6_Missense_Mutation_p.A91T|MAEA_ENST00000514708.1_Missense_Mutation_p.A91T|MAEA_ENST00000510794.1_Missense_Mutation_p.A90T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	91	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.A91T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ATCCATCCAGGCCGAGGACGA	0.662000													14	48					0	0	0.479597	0	0
ESRRG	2104	broad.mit.edu	37	1	216824354	216824354	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:216824354G>T	ENST00000391890.3	-	5	998	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	ESRRG_ENST00000366940.2_Missense_Mutation_p.R161S|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184S|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161S|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189S|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161S|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161S|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161S|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161S|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161S|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161S|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R184S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTCATGAAGCGGCAAGCCTGG	0.448000													42	104					2.46787e-29	3.05499e-29	0.870114	1	0
TMEM67	91147	broad.mit.edu	37	8	94767165	94767165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:94767165G>T	ENST00000453321.3	+	1	81	c.23G>T	c.(22-24)gGg>gTg	p.G8V	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	8					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.G8V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGTGGGGCTGGGGTGGCAATG	0.642000													16	74					2.49675e-24	3.06601e-24	0.717897	1	0
IGHG4	3503	broad.mit.edu	37	14	106091049	106091049	+	RNA	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:106091049T>C	ENST00000390543.2	-	0	747																											TAGAAGCCTTTGACCAGGCAG	0.632000													54	558					0	0	0.870114	0	0
MMP14	4323	broad.mit.edu	37	14	23311752	23311752	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:23311752G>C	ENST00000311852.6	+	4	775	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	172						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E172Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGAGGGCCATGAGAAGCAGGC	0.622000													10	33					0	0	0.361761	0	0
MTSS1	9788	broad.mit.edu	37	8	125580618	125580618	+	Splice_Site	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:125580618A>G	ENST00000518547.1	-	7	1092		c.e7+1		MTSS1_ENST00000378017.3_Splice_Site|MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000524090.1_Splice_Site|MTSS1_ENST00000431961.2_Splice_Site|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000354184.4_Splice_Site	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATTAACTTACAATCACTGG	0.438000													52	187					0	0	0.870114	0	0
DCDC1	341019	broad.mit.edu	37	11	30928177	30928177	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:30928177C>A	ENST00000597505.1	-	28	4013	c.4014G>T	c.(4012-4014)ttG>ttT	p.L1338F	DCDC1_ENST00000406071.2_Missense_Mutation_p.L73F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L417F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.L417F(1)|p.L25F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCCTGGAAGCAATTGTTTCA	0.453000													20	93					6.44725e-10	7.19748e-10	0.624587	1	0
HECTD4	283450	broad.mit.edu	37	12	112600874	112600874	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:112600874C>T	ENST00000550722.1	-	75	13049	c.12654G>A	c.(12652-12654)atG>atA	p.M4218I	HECTD4_ENST00000430131.2_Missense_Mutation_p.M3942I|HECTD4_ENST00000377560.5_Missense_Mutation_p.M4192I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.M4192I(1)|p.M3942I(1)									GGGCGATCTTCATGGGGTACG	0.612000													22	143					0	0	0.717897	0	0
MOCS3	27304	broad.mit.edu	37	20	49575810	49575810	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:49575810C>T	ENST00000244051.1	+	1	448	c.431C>T	c.(430-432)tCg>tTg	p.S144L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	144					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.S144L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GCCGCCGCCTCGCTGCGCCGC	0.637000													12	45					0	0	0.592651	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926374	106926374	+	RNA	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:106926374G>A	ENST00000434710.1	-	0	247																											GAGCTTGACGGACCCAGTGCA	0.552000													9	216					0	0	0.335167	0	0
PCM1	5108	broad.mit.edu	37	8	17813044	17813044	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:17813044C>T	ENST00000325083.8	+	10	1793	c.1354C>T	c.(1354-1356)Ccg>Tcg	p.P452S	PCM1_ENST00000518537.1_Missense_Mutation_p.P491S|PCM1_ENST00000519253.1_Missense_Mutation_p.P452S|PCM1_ENST00000524226.1_Missense_Mutation_p.P452S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	452					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.P452S(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGGCTTGGCACCGGTTGTCAA	0.438000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								9	75					0	0	0.361761	0	0
LIN52	91750	broad.mit.edu	37	14	74551687	74551687	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:74551687C>G	ENST00000555028.1	+	1	189	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	8								p.P8A(1)		breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GATGGCGTCTCCCACAGACGG	0.552000													22	227					0	0	0.760397	0	0
DRC1	92749	broad.mit.edu	37	2	26678013	26678013	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:26678013A>T	ENST00000288710.2	+	16	2152	c.2078A>T	c.(2077-2079)cAg>cTg	p.Q693L		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.Q693L(1)									GTCCTGACCCAGAGGGCCAAG	0.562000													40	119					0	0	0.870114	0	0
CDH20	28316	broad.mit.edu	37	18	59212284	59212284	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:59212284G>T	ENST00000262717.4	+	10	1953	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	CDH20_ENST00000538374.1_Missense_Mutation_p.D519Y|CDH20_ENST00000536675.2_Missense_Mutation_p.D519Y			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D519Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGTGCGGTGGACCAAGATGA	0.512000													37	215					2.2871e-25	2.81983e-25	0.834066	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363303	19363303	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:19363303C>A	ENST00000454498.2	-	4	1056	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.V15L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	15					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.V15L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAAACCACCACCCGGGAAATC	0.617000													41	164					1.35964e-18	1.62416e-18	0.870114	1	0
FLG2	388698	broad.mit.edu	37	1	152323126	152323126	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152323126G>C	ENST00000388718.5	-	3	7208	c.7136C>G	c.(7135-7137)tCa>tGa	p.S2379*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2379							calcium ion binding|structural molecule activity	p.S2379*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGTTGACCATGAAAG	0.438000													44	270					0	0	0.870114	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54119004	54119004	+	Missense_Mutation	SNP	C	C	A	rs149998353	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:54119004C>A	ENST00000548263.1	-	2	71	c.23G>T	c.(22-24)cGg>cTg	p.R8L	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R8L|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.R8L|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R8L			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	8	N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.R8L(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGATGGTGCCCGGCTTAGTGG	0.532000													20	45					4.35082e-09	4.77036e-09	0.592651	1	0
HGSNAT	138050	broad.mit.edu	37	8	43016642	43016642	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:43016642C>G	ENST00000458501.2	+	5	639	c.639C>G	c.(637-639)ctC>ctG	p.L213L	HGSNAT_ENST00000379644.4_Silent_p.L185L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	213					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	p.L213L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTCTGAGGCTCTTGTTGAGGT	0.438000													27	64					0	0	0.804634	0	0
ATP1A4	480	broad.mit.edu	37	1	160141394	160141394	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:160141394G>C	ENST00000368081.4	+	12	2172	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	567					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.L567L(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTGAATCTGCCTAGCAGCT	0.458000													5	213					0	0	0.217242	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582459	136582459	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:136582459C>T	ENST00000531224.1	-	12	2953	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E852K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E728K|BCLAF1_ENST00000031135.9_Missense_Mutation_p.E119K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E850K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E850K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E899K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	901					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E901K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTCTTCTTCATCTTCAACA	0.368000													14	369					0	0	0.520397	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481829	140481829	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140481829C>T	ENST00000231130.2	+	1	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G532G(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.672000													8	41					0	0	0.335167	0	0
NLRP8	126205	broad.mit.edu	37	19	56467063	56467063	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:56467063G>C	ENST00000291971.3	+	3	1710	c.1639G>C	c.(1639-1641)Gga>Cga	p.G547R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G547R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	547						cytoplasm	ATP binding	p.G547R(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTCCCAGAGGAAGCAAAAG	0.468000													20	119					0	0	0.592651	0	0
FAM83B	222584	broad.mit.edu	37	6	54806253	54806253	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:54806253T>C	ENST00000306858.7	+	5	2600	c.2484T>C	c.(2482-2484)ccT>ccC	p.P828P		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	828								p.P828P(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTCATCTCCTAGAAGAAAGC	0.393000													19	70					0	0	0.608945	0	0
POLR3B	55703	broad.mit.edu	37	12	106890582	106890582	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:106890582G>T	ENST00000228347.4	+	25	3092	c.2870G>T	c.(2869-2871)aGa>aTa	p.R957I	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.R899I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	957					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R957I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTGGACGGCAGATTCCACTAC	0.527000													47	284					6.31075e-24	7.71873e-24	0.870114	1	0
PNCK	139728	broad.mit.edu	37	X	152937028	152937028	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:152937028C>T	ENST00000393831.2	-	6	948	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PNCK_ENST00000340888.3_Missense_Mutation_p.A172T|PNCK_ENST00000447676.2_Missense_Mutation_p.A255T|PNCK_ENST00000370142.1_Missense_Mutation_p.A172T|PNCK_ENST00000370145.4_Missense_Mutation_p.A189T|PNCK_ENST00000370150.1_Missense_Mutation_p.A172T|PNCK_ENST00000475172.1_5'UTR	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	172	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A189T(1)|p.A172T(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCACAGGCGGTGCCTAGC	0.602000													11	61					0	0	0.479597	0	0
MAP4K5	11183	broad.mit.edu	37	14	50935437	50935437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:50935437C>A	ENST00000013125.4	-	10	924	c.606G>T	c.(604-606)tgG>tgT	p.W202C	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	202	Protein kinase.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.W202C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCCTACTGCCCAGATATCAC	0.393000													15	63					8.60227e-14	9.92819e-14	0.500413	1	0
KCNC2	3747	broad.mit.edu	37	12	75442065	75442065	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:75442065G>T	ENST00000549446.1	-	4	2328	c.1648C>A	c.(1648-1650)Ccg>Acg	p.P550T	KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000341669.3_Missense_Mutation_p.P550T|KCNC2_ENST00000298972.1_Missense_Mutation_p.P550T|KCNC2_ENST00000548513.1_Missense_Mutation_p.P550T|KCNC2_ENST00000393288.2_Missense_Mutation_p.P550T|KCNC2_ENST00000550433.1_Missense_Mutation_p.P550T|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	550					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P550T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GATAGTGGCGGCTCACTTCCT	0.478000													31	160					1.08312e-15	1.26915e-15	0.740014	1	0
POLK	51426	broad.mit.edu	37	5	74865234	74865234	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:74865234G>A	ENST00000241436.4	+	4	497	c.325G>A	c.(325-327)Gat>Aat	p.D109N	POLK_ENST00000380481.3_Missense_Mutation_p.D19N|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Missense_Mutation_p.D109N|POLK_ENST00000515295.1_Missense_Mutation_p.D109N|POLK_ENST00000352007.5_Missense_Mutation_p.D109N|POLK_ENST00000508526.1_Missense_Mutation_p.D109N	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	109	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.D109N(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CATTGACATGGATGCTTTCTA	0.343000								DNA polymerases (catalytic subunits)					12	112					0	0	0.500413	0	0
KAL1	3730	broad.mit.edu	37	X	8536381	8536381	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:8536381C>T	ENST00000262648.3	-	8	1248	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	367	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	p.D367N(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TAGTCACAGTCTGGCTGGAGT	0.443000													25	191					0	0	0.717897	0	0
FUT8	2530	broad.mit.edu	37	14	66208847	66208847	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:66208847C>T	ENST00000360689.5	+	11	3174	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y	FUT8_ENST00000394585.1_Missense_Mutation_p.H483Y|FUT8_ENST00000557164.1_Missense_Mutation_p.H320Y|FUT8_ENST00000358307.2_Missense_Mutation_p.H354Y|FUT8_ENST00000394586.2_Missense_Mutation_p.H483Y|FUT8_ENST00000417683.1_Missense_Mutation_p.H77Y	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	483					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.H483Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAAACACTACATCCTGATGC	0.388000													32	219					0	0	0.819951	0	0
IGSF10	285313	broad.mit.edu	37	3	151164737	151164737	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:151164737C>A	ENST00000282466.3	-	4	3031	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1011					cell differentiation|multicellular organismal development|ossification	extracellular region		p.G1011V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTGCCTCCCAAAGCGTCT	0.498000													29	160					1.08312e-15	1.26915e-15	0.740014	1	0
ONECUT2	9480	broad.mit.edu	37	18	55143772	55143772	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:55143772C>G	ENST00000491143.2	+	2	1364	c.1332C>G	c.(1330-1332)atC>atG	p.I444M		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	444					organ morphogenesis	nucleus	sequence-specific DNA binding	p.I444M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTTCGCCATCTTCAAGGAGA	0.527000													18	73					0	0	0.539581	0	0
MMS19	64210	broad.mit.edu	37	10	99238086	99238086	+	Translation_Start_Site	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:99238086G>C	ENST00000327277.7	-	0	332				MMS19_ENST00000370782.2_Missense_Mutation_p.S108C|MMS19_ENST00000327238.10_Missense_Mutation_p.S108C|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000438925.2_Missense_Mutation_p.S108C|MMS19_ENST00000355839.6_Missense_Mutation_p.S108C			Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	p.S108C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGCAGGACAGATGGGATCAC	0.463000								Direct reversal of damage					9	41					0	0	0.335167	0	0
KLHL38	340359	broad.mit.edu	37	8	124665152	124665152	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:124665152T>C	ENST00000325995.7	-	1	38	c.15A>G	c.(13-15)tcA>tcG	p.S5S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	5								p.S5S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCCATCTAGTGACTCCTCGT	0.522000													42	221					0	0	0.870114	0	0
SPATA5	166378	broad.mit.edu	37	4	123900467	123900467	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:123900467C>G	ENST00000274008.3	+	10	1864	c.1795C>G	c.(1795-1797)Ctg>Gtg	p.L599V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	599					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.L599V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAGATTACTCTGAAGGATTT	0.443000													96	267					0	0	0.870114	0	0
CHUK	1147	broad.mit.edu	37	10	101978567	101978567	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:101978567C>T	ENST00000370397.7	-	8	791	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	235	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.K235K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GATCCTTCTTCTTAATCTTCT	0.323000													6	165					0	0	0.217242	0	0
AMPD3	272	broad.mit.edu	37	11	10527398	10527398	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:10527398G>C	ENST00000444303.2	+	14	2266	c.1794G>C	c.(1792-1794)atG>atC	p.M598I	AMPD3_ENST00000396554.3_Missense_Mutation_p.M766I	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	757					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.M766I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGATGCTATGAAATCAGAAG	0.428000													5	241					0	0	0.217242	0	0
IL21R	50615	broad.mit.edu	37	16	27457349	27457349	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:27457349C>A	ENST00000337929.3	+	8	1280	c.807C>A	c.(805-807)gcC>gcA	p.A269A	IL21R_ENST00000564089.1_Silent_p.A269A|IL21R_ENST00000395754.4_Silent_p.A269A|IL21R_ENST00000395755.1_Silent_p.A269A|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	269					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.A269A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGATATGGGCCGTCCCCAGCC	0.637000			T	BCL6	NHL								10	51					0.00136819	0.00142869	0.411799	1	0
ATR	545	broad.mit.edu	37	3	142171996	142171996	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:142171996C>T	ENST00000350721.4	-	46	7856	c.7735G>A	c.(7735-7737)Gaa>Aaa	p.E2579K	ATR_ENST00000383101.3_Missense_Mutation_p.E2515K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2579					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.E2579K(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCCAGTTTCATTCAGTGGC	0.368000								Other conserved DNA damage response genes					34	82					0	0	0.840704	0	0
TCP1	6950	broad.mit.edu	37	6	160206484	160206484	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:160206484T>C	ENST00000321394.7	-	5	702	c.422A>G	c.(421-423)gAt>gGt	p.D141G	TCP1_ENST00000420894.2_Missense_Mutation_p.D141G|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	141					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	p.D141G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCCAGTTCATCTGTGTTAAC	0.368000													46	123					0	0	0.870114	0	0
CPS1	1373	broad.mit.edu	37	2	211518752	211518752	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:211518752C>T	ENST00000233072.5	+	29	3680	c.3484C>T	c.(3484-3486)Cac>Tac	p.H1162Y	CPS1_ENST00000430249.2_Missense_Mutation_p.H1168Y|CPS1_ENST00000451903.2_Missense_Mutation_p.H711Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1162	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328).	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.H1168Y(1)|p.H1162Y(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGACAGGAGCACCCAGTGGT	0.433000													84	186					0	0	0.870114	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013937	149013937	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:149013937T>C	ENST00000535454.1	+	4	1440	c.891T>C	c.(889-891)aaT>aaC	p.N297N	MAGEA8_ENST00000286482.1_Silent_p.N297N|MAGEA8_ENST00000542674.1_Silent_p.N297N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	297	MAGE.							p.N297N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGTCAATGCAAGAGTTC	0.567000													7	303					0	0	0.361761	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649065	54649065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:54649065G>A	ENST00000230640.5	+	14	1755	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A400T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	501	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.A501T(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTTACAAATGCCCGCAAATT	0.323000													9	75					0	0	0.361761	0	0
TRPA1	8989	broad.mit.edu	37	8	72967797	72967797	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:72967797T>A	ENST00000262209.4	-	12	1610	c.1403A>T	c.(1402-1404)gAc>gTc	p.D468V	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	468						integral to plasma membrane		p.D468V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATCACTTATGTCTTGTAGGAG	0.388000													56	206					0	0	0.870114	0	0
NUP153	9972	broad.mit.edu	37	6	17632972	17632972	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:17632972G>C	ENST00000262077.2	-	17	2567	c.2568C>G	c.(2566-2568)gaC>gaG	p.D856E	NUP153_ENST00000537253.1_Missense_Mutation_p.D887E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	856					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.D856E(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACAATTCACAGTCCCAGCTTC	0.478000													51	601					0	0	0.870114	0	0
FAM13A	10144	broad.mit.edu	37	4	89660226	89660226	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:89660226C>T	ENST00000264344.5	-	20	2724	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	FAM13A_ENST00000511976.1_Silent_p.R425R|FAM13A_ENST00000395002.2_Silent_p.R513R|FAM13A_ENST00000508369.1_Silent_p.R513R|FAM13A_ENST00000503556.1_Silent_p.R499R|FAM13A_ENST00000513837.1_Silent_p.R485R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	839					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R839R(1)|p.R513R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTTTGACCAGCCGGTACCTGT	0.507000													9	81					0	0	0.361761	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387212	22387212	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:22387212G>A	ENST00000263160.3	+	7	1305	c.868G>A	c.(868-870)Gca>Aca	p.A290T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	290					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.A290T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAGAGAGTGCAAATCTTTT	0.378000													30	192					0	0	0.804634	0	0
ABCB10	23456	broad.mit.edu	37	1	229683401	229683401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:229683401G>C	ENST00000344517.4	-	3	808	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	256	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.L256V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCTGCCTCAGAATGGAGGAG	0.478000													16	74					0	0	0.520397	0	0
NFIA	4774	broad.mit.edu	37	1	61818168	61818168	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:61818168G>C	ENST00000403491.3	+	5	1231	c.747G>C	c.(745-747)ttG>ttC	p.L249F	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Missense_Mutation_p.L249F|NFIA_ENST00000371189.4_Missense_Mutation_p.L294F|NFIA_ENST00000371191.1_Missense_Mutation_p.L272F|NFIA_ENST00000407417.3_Missense_Mutation_p.L241F|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.L249F|NFIA_ENST00000371185.2_Missense_Mutation_p.L227F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	249					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L294F(2)|p.L249F(2)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTCAGATTTGGAAAGTTCTT	0.378000													12	117					0	0	0.500413	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699059	17699059	+	Silent	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:17699059A>T	ENST00000399080.2	-	1	647	c.624T>A	c.(622-624)atT>atA	p.I208I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	208								p.I208I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTGTTCTTAATTTCATGAA	0.308000													23	99					0	0	0.681144	0	0
SUOX	6821	broad.mit.edu	37	12	56397873	56397873	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:56397873G>A	ENST00000394109.3	+	3	1424	c.700G>A	c.(700-702)Gta>Ata	p.V234I	SUOX_ENST00000394115.2_Missense_Mutation_p.V234I|SUOX_ENST00000266971.3_Missense_Mutation_p.V234I|SUOX_ENST00000548274.1_Missense_Mutation_p.V234I|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Missense_Mutation_p.V234I			P51687	SUOX_HUMAN	sulfite oxidase	234	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.V234I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCGCTTACACGTAGTAGGAGC	0.522000													15	60					0	0	0.539581	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797966	124797966	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:124797966C>T	ENST00000334705.7	+	11	1193	c.947C>T	c.(946-948)tCc>tTc	p.S316F	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S316F	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	316								p.S316F(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATGTTCCATCCGTAAACAGA	0.294000													7	115					0	0	0.278610	0	0
ZNF444	55311	broad.mit.edu	37	19	56669884	56669884	+	Missense_Mutation	SNP	G	G	A	rs61736532	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:56669884G>A	ENST00000337080.3	+	4	686	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.G107R	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	107					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G107R(2)		NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CTCCCCCGATGGGTCGTCAGC	0.597000													4	89					0	0	0.217242	0	0
SDK1	221935	broad.mit.edu	37	7	4198173	4198173	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:4198173G>C	ENST00000404826.2	+	31	4858	c.4719G>C	c.(4717-4719)acG>acC	p.T1573T	SDK1_ENST00000389531.3_Silent_p.T1573T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1573					cell adhesion	integral to membrane		p.T1573T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGTGACCACGCTGCAGGATG	0.602000													20	94					0	0	0.575678	0	0
POTEG	404785	broad.mit.edu	37	14	19563533	19563533	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:19563533T>G	ENST00000409832.3	+	5	1099	c.1047T>G	c.(1045-1047)caT>caG	p.H349Q	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	349				H -> R (in Ref. 1; AAS58868/AAS58871).				p.H349Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCTAGTCATCATAATGTGT	0.348000													38	1123					0	0	0.769981	0	0
LRFN5	145581	broad.mit.edu	37	14	42360651	42360651	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:42360651C>G	ENST00000298119.4	+	4	2773	c.1584C>G	c.(1582-1584)acC>acG	p.T528T	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	528						integral to membrane		p.T528T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGGAGGCACCATGATTATTA	0.428000										HNSCC(30;0.082)			68	562					0	0	0.870114	0	0
INTS12	57117	broad.mit.edu	37	4	106616825	106616825	+	Splice_Site	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:106616825C>G	ENST00000451321.2	-	3	636	c.156_splice	c.e3-1	p.D53_splice	INTS12_ENST00000340139.5_Splice_Site_p.D53_splice|INTS12_ENST00000394735.1_Splice_Site_p.D53_splice	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	53					snRNA processing	integrator complex	protein binding|zinc ion binding	p.D53H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGCTCCACATCCTAAAAGATG	0.294000													15	184					0	0	0.500413	0	0
ZNF225	7768	broad.mit.edu	37	19	44622435	44622435	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:44622435T>A	ENST00000592780.1	+	3	331	c.110T>A	c.(109-111)aTg>aAg	p.M37K	ZNF225_ENST00000262894.6_Missense_Mutation_p.M37K|ZNF225_ENST00000590612.1_Missense_Mutation_p.M37K			Q9UK10	ZN225_HUMAN	zinc finger protein 225	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M37K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGAGAAGTGATGCTGGAGAAC	0.537000													188	1059					0	0	0.870114	0	0
GHSR	2693	broad.mit.edu	37	3	172165759	172165759	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172165759G>T	ENST00000241256.2	-	1	487	c.445C>A	c.(445-447)Ctc>Atc	p.L149I	GHSR_ENST00000427970.1_Missense_Mutation_p.L149I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	149					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.L149I(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTGGCCCGGAGTGGGAAGCAG	0.617000													80	91					3.48759e-61	4.46121e-61	0.870114	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419327	105419327	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:105419327G>A	ENST00000333244.5	-	7	2580	c.2461C>T	c.(2461-2463)Ctg>Ttg	p.L821L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	821						nucleus		p.L821L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.602000													26	135					0	0	0.706142	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565250	33565250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:33565250C>G	ENST00000321505.4	+	1	1430	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S417C|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S417C					KIAA1549-like									p.S417C(2)									TCAATAATATCTGGCTTGCAG	0.398000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	69					0	0	0.796494	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799042	20799042	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:20799042G>T	ENST00000327925.5	-	1	411	c.292C>A	c.(292-294)Cac>Aac	p.H98N	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	98								p.H98N(1)		large_intestine(3)|lung(3)|skin(1)	7						GCCAAGACGTGCTCCACCCCA	0.642000													29	191					1.05386e-31	1.31518e-31	0.870114	1	0
DNAH7	56171	broad.mit.edu	37	2	196866436	196866436	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:196866436G>A	ENST00000312428.6	-	11	1236	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	DNAH7_ENST00000410072.1_Missense_Mutation_p.S379F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	379	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S379F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTGCATGGAGACTAAAGT	0.378000													57	189					0	0	0.870114	0	0
IQCC	55721	broad.mit.edu	37	1	32672200	32672200	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:32672200G>A	ENST00000537469.1	+	3	564	c.517G>A	c.(517-519)Gag>Aag	p.E173K	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.E93K	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	93								p.E93K(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAAGAGTCTGAGGGAGAGGC	0.532000													10	64					0	0	0.335167	0	0
ZNF503	84858	broad.mit.edu	37	10	77160865	77160865	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:77160865C>T	ENST00000372524.4	-	1	799	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF503_ENST00000535216.1_Missense_Mutation_p.E105K|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E105K(2)|p.S36L(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCCTTACCTCGATGGGGCTG	0.627000													3	16					0	0	0.115264	0	0
CTR9	9646	broad.mit.edu	37	11	10800443	10800443	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:10800443G>A	ENST00000361367.2	+	25	3739	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1105	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		p.E1105K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCTGACAATGAATCTGTGCA	0.557000													38	85					0	0	0.827153	0	0
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:109051145C>T	ENST00000261401.3	-	6	857	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CORO1C_ENST00000549772.1_Missense_Mutation_p.D235N|CORO1C_ENST00000541050.1_Missense_Mutation_p.D229N|CORO1C_ENST00000421578.2_Missense_Mutation_p.D124N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D282N|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	229					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.D229N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACATTGCCATCGGCCAGGAAG	0.547000													5	31					0	0	0.184627	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:39990047C>T	ENST00000332312.3	-	4	2354	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672000													9	15					0	0	0.307466	0	0
TADA2A	6871	broad.mit.edu	37	17	35830621	35830621	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:35830621G>A	ENST00000394395.2	+	13	1186	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	TADA2A_ENST00000225396.6_Missense_Mutation_p.R338H|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	338					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	p.R338H(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CAGTGGCTCCGCCGGCAAGCT	0.517000													6	239					0	0	0.248553	0	0
C1QB	713	broad.mit.edu	37	1	22986043	22986043	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:22986043A>C	ENST00000509305.1	+	2	434	c.88A>C	c.(88-90)Acc>Ccc	p.T30P	C1QB_ENST00000314933.6_Missense_Mutation_p.T32P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	32					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.T32P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTCAGCTGCACCGGGCCCCC	0.597000													15	130					0	0	0.557998	0	0
DYSF	8291	broad.mit.edu	37	2	71839841	71839841	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:71839841G>T	ENST00000258104.3	+	39	4515	c.4238G>T	c.(4237-4239)cGc>cTc	p.R1413L	DYSF_ENST00000409762.1_Missense_Mutation_p.R1430L|DYSF_ENST00000409582.3_Missense_Mutation_p.R1430L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1445L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1400L|DYSF_ENST00000394120.2_Missense_Mutation_p.R1414L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1413L|DYSF_ENST00000410041.1_Missense_Mutation_p.R1431L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1414L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1444L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1431L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1413						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.R1413L(1)|p.R1431L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTTTGGCCGCCGGCCTGTG	0.647000													16	19					5.45727e-16	6.44378e-16	0.729181	1	0
CASC5	57082	broad.mit.edu	37	15	40902476	40902476	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:40902476G>C	ENST00000346991.5	+	6	621	c.231G>C	c.(229-231)gtG>gtC	p.V77V	CASC5_ENST00000399668.2_Silent_p.V77V|CASC5_ENST00000527044.1_Silent_p.V77V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	77	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.V77V(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAAAATAGTGAGAAAGTCAG	0.294000													12	48					0	0	0.500413	0	0
EML2	24139	broad.mit.edu	37	19	46133262	46133262	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:46133262G>A	ENST00000536630.1	-	10	1132	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	EML2_ENST00000245925.3_Missense_Mutation_p.H185Y|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.H185Y|EML2_ENST00000587152.1_Missense_Mutation_p.H386Y	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	185					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.H185Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAGAGCATGTGATCATTGGAT	0.582000													15	80					0	0	0.500413	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144762	106144762	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:106144762C>G	ENST00000276173.4	-	3	267	c.238G>C	c.(238-240)Ggt>Cgt	p.G80R	CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	80					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		p.G80R(1)		lung(1)|urinary_tract(1)	2						GTTGCCCCACCAGCAGCCTGT	0.488000													32	464					0	0	0.864702	0	0
CES1P1	51716	broad.mit.edu	37	16	55806409	55806409	+	RNA	SNP	T	T	C	rs28366434	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:55806409T>C	ENST00000571348.1	+	0	711					NR_003276.2																						GGAGGGTCAGTGGGAGGAGAA	0.567000													3	37					0	0	0.115264	0	0
TCF19	6941	broad.mit.edu	37	6	31129531	31129531	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:31129531C>A	ENST00000376257.3	+	3	1300	c.546C>A	c.(544-546)ctC>ctA	p.L182L	TCF19_ENST00000376255.4_Silent_p.L182L|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	182					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L182L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAGGCAGCCTCAGCAAGCTCC	0.657000													5	40					3.59834e-05	3.80927e-05	0.217242	1	0
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:80608439G>T	ENST00000254037.2	+	5	3929	c.774G>T	c.(772-774)ccG>ccT	p.P258P	ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000438268.2_Silent_p.P258P|ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258							nucleic acid binding|zinc ion binding	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388000													27	107					2.12542e-12	2.42566e-12	0.706142	1	0
TBR1	10716	broad.mit.edu	37	2	162273111	162273111	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:162273111G>C	ENST00000389554.3	+	1	507	c.190G>C	c.(190-192)Gat>Cat	p.D64H		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	64						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D64H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAATCAGTCAGATACAGACAA	0.483000													9	124					0	0	0.307466	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037956	36037956	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:36037956T>C	ENST00000282507.3	-	6	1339	c.1238A>G	c.(1237-1239)aAg>aGg	p.K413R	UGT3A2_ENST00000545528.1_Missense_Mutation_p.K111R|UGT3A2_ENST00000513300.1_Missense_Mutation_p.K379R	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	413						integral to membrane	glucuronosyltransferase activity	p.K413R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGCTTCTTTAACTGAAT	0.463000													96	506					0	0	0.870114	0	0
BRIP1	83990	broad.mit.edu	37	17	59760881	59760881	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:59760881T>G	ENST00000259008.2	-	20	3793	c.3526A>C	c.(3526-3528)Ata>Cta	p.I1176L		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1176					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1176L(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTCTTTTATAGTTCTAATT	0.318000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					16	45					0	0	0.539581	0	0
CDH12	1010	broad.mit.edu	37	5	21751993	21751993	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:21751993G>A	ENST00000382254.1	-	15	3324	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	CDH12_ENST00000504376.2_Silent_p.S746S|CDH12_ENST00000522262.1_Silent_p.S706S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	746					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S746S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCTGCCACGGACCCACTCC	0.512000										HNSCC(59;0.17)			43	161					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619868	77619868	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:77619868C>G	ENST00000521891.2	+	3	3126	c.2678C>G	c.(2677-2679)tCa>tGa	p.S893*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S867*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S867*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S867*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	867						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S893*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAGCTGTCACCTTATATC	0.502000										HNSCC(33;0.089)			7	81					0	0	0.307466	0	0
CIDEA	1149	broad.mit.edu	37	18	12274208	12274208	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:12274208C>A	ENST00000320477.9	+	4	512	c.447C>A	c.(445-447)gcC>gcA	p.A149A	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	149					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.A183A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACGTGAAGGCCACCATGTATG	0.592000													33	151					6.53348e-20	7.92797e-20	0.788014	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767488	31767488	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:31767488G>T	ENST00000240587.4	-	2	3538	c.3211C>A	c.(3211-3213)Cac>Aac	p.H1071N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1071					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H888N(1)|p.H1071N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TACAGAAGGTGGTCTTCCGGA	0.473000													17	127					8.34094e-07	8.92219e-07	0.575678	1	0
RAB3IL1	5866	broad.mit.edu	37	11	61674928	61674928	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:61674928C>A	ENST00000394836.2	-	4	532	c.375G>T	c.(373-375)atG>atT	p.M125I	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.M172I	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	125							protein binding	p.M125I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTTCTCGAACCATCTTGTGAG	0.627000													6	33					0.000274275	0.000288365	0.307466	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236393	140236393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140236393C>T	ENST00000307360.5	+	1	760	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.Q254*	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.Q254*(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGAAAATCAAGTGAACCA	0.403000													6	65					0	0	0.248553	0	0
DUPD1	338599	broad.mit.edu	37	10	76818123	76818123	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:76818123G>C	ENST00000338487.5	-	1	149	c.150C>G	c.(148-150)ccC>ccG	p.P50P		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	50						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P50P(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGTGTACTGGGGACTGCCCT	0.637000													7	71					0	0	0.307466	0	0
TWISTNB	221830	broad.mit.edu	37	7	19739839	19739839	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:19739839G>C	ENST00000222567.5	-	3	531	c.461C>G	c.(460-462)tCc>tGc	p.S154C		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	154						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.S154C(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTAGGAATGGAGGCATTGAA	0.408000													39	245					0	0	0.859065	0	0
CCDC170	80129	broad.mit.edu	37	6	151859248	151859248	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:151859248G>A	ENST00000367290.5	+	3	344	c.255G>A	c.(253-255)gaG>gaA	p.E85E	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Silent_p.E85E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	85								p.E85E(1)									CTGAAATGGAGAGCTACAAGG	0.383000													21	187					0	0	0.639603	0	0
GCNT2	2651	broad.mit.edu	37	6	10586437	10586437	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:10586437T>A	ENST00000265012.4	+	1	459	c.215T>A	c.(214-216)gTc>gAc	p.V72D	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	72						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.V72D(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTGCGAAGTGTCCCTTGCAAG	0.443000													9	465					0	0	0.335167	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:63888788G>C	ENST00000337537.3	-	4	981	c.379C>G	c.(379-381)Ctc>Gtc	p.L127V	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L51V|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L127V	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	127					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.L127V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTAGGAGGGAGAGTTCTGAAT	0.423000													21	181					0	0	0.624587	0	0
FSCN3	29999	broad.mit.edu	37	7	127234028	127234028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:127234028G>T	ENST00000265825.5	+	1	340	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_Intron	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	41						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A41S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACTGCAACTGCGAAGAGTTT	0.557000													6	18					0.00307968	0.00317269	0.278610	1	0
POC5	134359	broad.mit.edu	37	5	74981288	74981288	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:74981288T>G	ENST00000428202.2	-	10	1340	c.1151A>C	c.(1150-1152)aAa>aCa	p.K384T	POC5_ENST00000514838.2_Missense_Mutation_p.K356T|POC5_ENST00000446329.2_Missense_Mutation_p.K359T|POC5_ENST00000510798.1_Missense_Mutation_p.K267T|POC5_ENST00000380475.2_Missense_Mutation_p.K267T	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	384					cell cycle	centriole		p.K358T(1)|p.K384T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCCTTTTTATTATTTGT	0.383000													16	202					0	0	0.575678	0	0
STK25	10494	broad.mit.edu	37	2	242438432	242438432	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:242438432T>A	ENST00000316586.4	-	7	1092	c.743A>T	c.(742-744)gAg>gTg	p.E248V	STK25_ENST00000403346.3_Missense_Mutation_p.E248V|STK25_ENST00000401869.1_Missense_Mutation_p.E248V|STK25_ENST00000535007.1_Missense_Mutation_p.E154V|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.E154V|STK25_ENST00000405883.3_Missense_Mutation_p.E171V|STK25_ENST00000405585.1_Missense_Mutation_p.E171V	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	248	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.E248V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAGGCAGGCCTCCACGAACTC	0.637000													3	10					0	0	0.115264	0	0
PPIF	10105	broad.mit.edu	37	10	81112122	81112122	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:81112122C>T	ENST00000225174.3	+	5	533	c.462C>T	c.(460-462)ttC>ttT	p.F154F	PPIF_ENST00000394579.3_Intron	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	154	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	p.F154F(1)		endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	GCTCCCAGTTCTTCATCTGCA	0.592000													7	99					0	0	0.335167	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091260	95091260	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:95091260C>T	ENST00000379982.3	+	6	1351	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	281	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	p.F281F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCCATGTTTTCATGCTGCTTT	0.433000													39	139					0	0	0.847076	0	0
GPR148	344561	broad.mit.edu	37	2	131486979	131486979	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:131486979C>A	ENST00000309926.4	+	1	337	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	85						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H85Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGGAGCCCCACTACCTGCTCC	0.632000													8	80					5.4927e-09	6.00092e-09	0.307466	1	0
NRAP	4892	broad.mit.edu	37	10	115364439	115364439	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:115364439G>C	ENST00000369358.4	-	35	4424	c.4180C>G	c.(4180-4182)Cac>Gac	p.H1394D	NRAP_ENST00000369360.3_Missense_Mutation_p.H1359D|NRAP_ENST00000359988.3_Missense_Mutation_p.H1386D|NRAP_ENST00000360478.3_Missense_Mutation_p.H1351D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1386						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.H1386D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGTGATACTGTGTC	0.587000													10	113					0	0	0.411799	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278291	47278291	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:47278291T>C	ENST00000271153.4	+	4	527	c.491T>C	c.(490-492)aTg>aCg	p.M164T	CYP4B1_ENST00000452782.2_Start_Codon_SNP_p.M1T|CYP4B1_ENST00000371919.4_Missense_Mutation_p.M149T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.M164T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	164					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.M164T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACACGTATCATGCTGGTGAGC	0.577000													52	271					0	0	0.870114	0	0
RHEB	6009	broad.mit.edu	37	7	151174480	151174480	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:151174480G>C	ENST00000262187.5	-	4	626	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	72					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.Q72E(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAGTATGTCTGAGGAAAGATA	0.338000													5	151					0	0	0.217242	0	0
DACH2	117154	broad.mit.edu	37	X	86067861	86067861	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:86067861G>A	ENST00000373131.1	+	7	1367	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	DACH2_ENST00000373125.4_Missense_Mutation_p.E415K|DACH2_ENST00000510272.1_Missense_Mutation_p.E196K|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.E248K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.E415K(1)|p.E402K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTTTGCAGAAGAGGTACCAGT	0.408000													8	85					0	0	0.411799	0	0
ATXN2	6311	broad.mit.edu	37	12	111893881	111893881	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:111893881G>T	ENST00000377617.3	-	23	3857	c.3696C>A	c.(3694-3696)caC>caA	p.H1232Q	ATXN2_ENST00000389153.4_Missense_Mutation_p.H969Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H925Q|ATXN2_ENST00000542287.2_Missense_Mutation_p.H967Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1232					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	p.H1232Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCGGCTGAACGTGAGAAGGAT	0.532000													87	315					1.03567e-68	1.33033e-68	0.870114	1	0
SORBS2	8470	broad.mit.edu	37	4	186544260	186544260	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:186544260T>A	ENST00000431808.1	-	14	2874	c.2311A>T	c.(2311-2313)Agg>Tgg	p.R771W	SORBS2_ENST00000418609.1_Missense_Mutation_p.R675W|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.R771W|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.R871W|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	771						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R771W(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGAGTTCCTCTCGGGAACA	0.562000													4	120					0	0	0.248553	0	0
TTC7A	57217	broad.mit.edu	37	2	47221537	47221537	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:47221537G>A	ENST00000319190.5	+	7	1253	c.885G>A	c.(883-885)ctG>ctA	p.L295L	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.L261L|TTC7A_ENST00000394850.2_Silent_p.L295L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	295							binding	p.L295L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCACTCCCTGAGTGAGGAGT	0.632000													6	239					0	0	0.278610	0	0
ZNF525	170958	broad.mit.edu	37	19	53884192	53884192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:53884192G>T	ENST00000467003.1	+	4	453	c.252G>T	c.(250-252)atG>atT	p.M84I	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.M120I|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525									p.M120I(1)		endometrium(3)|kidney(3)|lung(3)	9						AAAAATTGATGGGTAGTACAG	0.373000													19	138					8.34094e-07	8.92219e-07	0.575678	1	0
BRINP3	339479	broad.mit.edu	37	1	190195450	190195450	+	Splice_Site	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:190195450T>A	ENST00000367462.3	-	6	956		c.e6-2		FAM5C_ENST00000534846.1_Splice_Site|FAM5C_ENST00000484105.1_Splice_Site	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN								extracellular region		p.?(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTGAAGCCCTTGAAGAACAA	0.303000													14	57					0	0	0.500413	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833289	34833289	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:34833289C>G	ENST00000299505.6	+	10	3323	c.2450C>G	c.(2449-2451)aCc>aGc	p.T817S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	817								p.T817S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGAAATAACACCTGGCCCAAC	0.522000													6	303					0	0	0.307466	0	0
INPP5F	22876	broad.mit.edu	37	10	121510631	121510631	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:121510631G>C	ENST00000361976.2	+	2	307	c.141G>C	c.(139-141)ttG>ttC	p.L47F	INPP5F_ENST00000369083.3_Missense_Mutation_p.L47F	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	47							phosphoric ester hydrolase activity	p.L47F(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTTTGGGGTTGGTAGAAGGTG	0.328000											OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	100					0	0	0.248553	0	0
MUC16	94025	broad.mit.edu	37	19	8966817	8966817	+	Splice_Site	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:8966817C>A	ENST00000397910.4	-	81	43340		c.e81-1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGACAGACCTGGAAGGGGA	0.488000													3	56					0.115264	0.11602	0.115264	1	0
NEFL	4747	broad.mit.edu	37	8	24810240	24810240	+	RNA	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:24810240G>C	ENST00000221169.5	-	0	2310							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATAGAATCTGGAACTCAACTG	0.363000													5	33					0	0	0.184627	0	0
SCAND3	114821	broad.mit.edu	37	6	28542753	28542753	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:28542753C>T	ENST00000452236.2	-	3	2346	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	577					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.D577N(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTTCAATATCACTACTGTCT	0.373000													8	73					0	0	0.307466	0	0
KIF27	55582	broad.mit.edu	37	9	86502017	86502017	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:86502017C>G	ENST00000297814.2	-	9	2321	c.2178G>C	c.(2176-2178)atG>atC	p.M726I	KIF27_ENST00000376347.1_Missense_Mutation_p.M117I|KIF27_ENST00000413982.1_Missense_Mutation_p.M726I|KIF27_ENST00000334204.2_Missense_Mutation_p.M726I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	726					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.M726I(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAAGTTCTCTCATTTTTTGTT	0.284000													6	42					0	0	0.217242	0	0
RIMS2	9699	broad.mit.edu	37	8	104922405	104922405	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:104922405C>A	ENST00000507740.1	+	3	1328	c.1092C>A	c.(1090-1092)agC>agA	p.S364R	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.S556R|RIMS2_ENST00000436393.2_Missense_Mutation_p.S334R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	634					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S364R(2)|p.S334R(1)|p.S556R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGCATAGCAGTGAGGCAT	0.403000										HNSCC(12;0.0054)			65	231					7.427e-35	9.34462e-35	0.870114	1	0
POLE	5426	broad.mit.edu	37	12	133257827	133257827	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:133257827C>A	ENST00000320574.5	-	2	144	c.101G>T	c.(100-102)cGc>cTc	p.R34L	POLE_ENST00000535270.1_Missense_Mutation_p.R34L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	34					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.R34L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCGTTCCAGGCGCTTGAGTGC	0.512000								DNA polymerases (catalytic subunits)					24	94					2.70662e-09	2.97825e-09	0.740014	1	0
KIAA1324	57535	broad.mit.edu	37	1	109716178	109716178	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:109716178T>C	ENST00000369939.3	+	6	962	c.779T>C	c.(778-780)cTg>cCg	p.L260P	KIAA1324_ENST00000529753.1_Splice_Site_p.L260_splice	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	260					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.L260P(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AAGCCTGTGCTGGTGAGAAAC	0.493000													5	152					0	0	0.248553	0	0
LPHN3	23284	broad.mit.edu	37	4	62812790	62812790	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:62812790A>C	ENST00000512091.1	+	15	3121	c.2374A>C	c.(2374-2376)Aac>Cac	p.N792H	LPHN3_ENST00000509896.1_Missense_Mutation_p.N860H|LPHN3_ENST00000514996.1_Missense_Mutation_p.N792H|LPHN3_ENST00000508946.1_Missense_Mutation_p.N792H|LPHN3_ENST00000507625.1_Missense_Mutation_p.N860H|LPHN3_ENST00000506746.1_Missense_Mutation_p.N860H|LPHN3_ENST00000514591.1_Missense_Mutation_p.N792H|LPHN3_ENST00000504896.1_Missense_Mutation_p.N792H|LPHN3_ENST00000514157.1_Missense_Mutation_p.N792H|LPHN3_ENST00000506720.1_Missense_Mutation_p.N860H|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.N860H|LPHN3_ENST00000545650.1_Missense_Mutation_p.N792H|LPHN3_ENST00000506700.1_Missense_Mutation_p.N792H|LPHN3_ENST00000507164.1_Missense_Mutation_p.N860H|LPHN3_ENST00000511324.1_Missense_Mutation_p.N860H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	779					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.N792H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGAGTTCAGTAACAAGGTTTA	0.348000													29	280					0	0	0.729181	0	0
LRRN3	54674	broad.mit.edu	37	7	110764566	110764566	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:110764566C>T	ENST00000451085.1	+	4	2784	c.1738C>T	c.(1738-1740)Ctt>Ttt	p.L580F	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L580F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L580F|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	580	Fibronectin type-III.					integral to membrane		p.L580F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTATATAATCTTACTCATCT	0.348000													6	77					0	0	0.217242	0	0
ABCC1	4363	broad.mit.edu	37	16	16225762	16225762	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:16225762C>T	ENST00000399408.2	+	28	4141	c.3966C>T	c.(3964-3966)caC>caT	p.H1322H	ABCC1_ENST00000349029.5_Silent_p.H1197H|ABCC1_ENST00000399410.3_Silent_p.H1312H|ABCC1_ENST00000351154.5_Silent_p.H1253H|ABCC1_ENST00000345148.5_Silent_p.H1312H|ABCC1_ENST00000346370.5_Silent_p.H1256H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1312	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H1312H(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCTCAGGCACATCAATGTCA	0.612000													26	187					0	0	0.729181	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13052	13052	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrM:13052G>A	ENST00000361567.2	+	1	716	c.716G>A	c.(715-717)gGc>gAc	p.G239D				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	239					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AGCCATAGAAGGCCCCACCCC	0.552000													15	8					0	0	0.575678	0	0
HRNR	388697	broad.mit.edu	37	1	152190895	152190895	+	Silent	SNP	T	T	G	rs144504025	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152190895T>G	ENST00000368801.2	-	3	3285	c.3210A>C	c.(3208-3210)tcA>tcC	p.S1070S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1070					keratinization		calcium ion binding|protein binding	p.S1070S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAATGACCTGAGCTAGATC	0.562000													8	310					0	0	0.361761	0	0
HELQ	113510	broad.mit.edu	37	4	84352854	84352854	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:84352854C>T	ENST00000295488.3	-	11	2420	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E	HELQ_ENST00000510985.1_Missense_Mutation_p.G686E	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	753	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G753E(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGTTTGGATTCCCTTGGTGAA	0.308000								Other identified genes with known or suspected DNA repair function					14	49					0	0	0.557998	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	48					0	0	0.150653	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945637	43945637	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:43945637G>T	ENST00000389420.3	-	1	87	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q30K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	30						proteinaceous extracellular matrix	zinc ion binding	p.Q30K(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTTACCTTGCCTGGGGTGG	0.647000													24	97					4.72057e-08	5.10287e-08	0.667858	1	0
MAP7D2	256714	broad.mit.edu	37	X	20043822	20043822	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:20043822C>T	ENST00000379651.3	-	8	1151	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	MAP7D2_ENST00000452324.3_Missense_Mutation_p.G326E|MAP7D2_ENST00000443379.3_Missense_Mutation_p.G333E|MAP7D2_ENST00000379643.5_Missense_Mutation_p.G419E|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Missense_Mutation_p.G263E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	378								p.G378E(1)|p.G419E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGCTTTCCCTCCTGCGGCAGC	0.582000													34	255					0	0	0.760397	0	0
OR51A2	401667	broad.mit.edu	37	11	4976705	4976705	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:4976705A>T	ENST00000380371.1	-	1	238	c.239T>A	c.(238-240)cTg>cAg	p.L80Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L80H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAGTGGGCAGAGATGATAA	0.438000													117	145					0	0	0.870114	0	0
ZNF571	51276	broad.mit.edu	37	19	38055625	38055625	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:38055625G>A	ENST00000328550.2	-	4	1804	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	ZNF571_ENST00000451802.2_Missense_Mutation_p.R569C|ZNF571_ENST00000593133.1_Missense_Mutation_p.R569C|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R569C|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R569C(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGCCACGACTAAAGGCC	0.443000													58	268					0	0	0.870114	0	0
PDE11A	50940	broad.mit.edu	37	2	178762821	178762821	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:178762821G>A	ENST00000286063.5	-	4	1583	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	PDE11A_ENST00000449286.2_Silent_p.R64R|PDE11A_ENST00000409504.1_Silent_p.R64R|PDE11A_ENST00000358450.4_Silent_p.R172R|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	422	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R422R(1)|p.R172R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AAACAGAACAGCGTTCACATT	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial				20	197					0	0	0.654019	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870756	111870756	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:111870756C>A	ENST00000305815.5	-	28	3724	c.3472G>T	c.(3472-3474)Ggg>Tgg	p.G1158W	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G1110W	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1158					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.G1158W(1)									AACTTTGTCCCCAGCAGGGAG	0.502000													73	176					2.75442e-36	3.47986e-36	0.870114	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70819665	70819665	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:70819665G>C	ENST00000370944.4	-	1	740	c.427C>G	c.(427-429)Cac>Gac	p.H143D	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.H143D	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	143					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.H143D(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCTCACCGTGATTATCTTTC	0.602000													5	34					0	0	0.217242	0	0
RALGPS2	55103	broad.mit.edu	37	1	178745932	178745932	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:178745932C>G	ENST00000367635.3	+	2	371	c.33C>G	c.(31-33)gtC>gtG	p.V11V	RALGPS2_ENST00000367634.2_Silent_p.V11V|RALGPS2_ENST00000324778.4_Silent_p.V11V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	11					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.V11V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAGCAGTGTCAATATTGCAG	0.433000													28	241					0	0	0.779181	0	0
PELP1	27043	broad.mit.edu	37	17	4575522	4575522	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:4575522C>G	ENST00000301396.4	-	16	3421	c.3196G>C	c.(3196-3198)Gaa>Caa	p.E1066Q	PELP1_ENST00000574876.1_Missense_Mutation_p.E922Q|PELP1_ENST00000572293.1_Missense_Mutation_p.E972Q|PELP1_ENST00000269230.7_Missense_Mutation_p.E832Q|PELP1_ENST00000436683.2_Missense_Mutation_p.E775Q			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	922	Glu-rich.|Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	p.E1066Q(1)|p.E972Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						tcttcctcttcaaaatattcc	0.443000													3	4					0	0	0.150653	0	0
MIR516B2	574485	broad.mit.edu	37	19	54228705	54228705	+	RNA	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:54228705G>A	ENST00000385190.1	+	0	10					NR_030207.1																						ATCTCATGATGTGACCATCTG	0.378000													10	91					0	0	0.411799	0	0
CCDC150	284992	broad.mit.edu	37	2	197531457	197531457	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:197531457G>C	ENST00000389175.4	+	7	912	c.777G>C	c.(775-777)caG>caC	p.Q259H	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	259								p.Q259H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACATTTTGCAGCAAAACTGCA	0.378000													4	27					0	0	0.217242	0	0
CPT1A	1374	broad.mit.edu	37	11	68549256	68549256	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:68549256G>A	ENST00000265641.5	-	11	1489	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	CPT1A_ENST00000376618.2_Silent_p.H445H|CPT1A_ENST00000540367.1_Silent_p.H445H|CPT1A_ENST00000539743.1_Silent_p.H445H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	445					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.H445H(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AACATCGGCCGTGTAGTAGAG	0.488000													16	810					0	0	0.479597	0	0
KDM5C	8242	broad.mit.edu	37	X	53245042	53245042	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:53245042G>C	ENST00000452825.3	-	5	1229	c.697C>G	c.(697-699)Cac>Gac	p.H233D	KDM5C_ENST00000375401.3_Missense_Mutation_p.H300D|KDM5C_ENST00000404049.3_Missense_Mutation_p.H299D|KDM5C_ENST00000375383.3_Missense_Mutation_p.H259D|KDM5C_ENST00000375379.3_Missense_Mutation_p.H300D	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	300					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.H233D(1)|p.H300D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTGGGCTGTGACTCAGCTCC	0.552000			"""N, F, S"""		clear cell renal carcinoma								34	139					0	0	0.804634	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	35					0	0	0.115264	0	0
COL19A1	1310	broad.mit.edu	37	6	70852699	70852699	+	Missense_Mutation	SNP	C	C	A	rs143251981	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:70852699C>A	ENST00000322773.4	+	23	1715	c.1613C>A	c.(1612-1614)cCg>cAg	p.P538Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.P160Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	538	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P538L(3)|p.P538Q(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGAGGACCGCCAGGAGAT	0.358000													24	68					5.61819e-17	6.6594e-17	0.693898	1	0
OR2T4	127074	broad.mit.edu	37	1	248525348	248525348	+	Missense_Mutation	SNP	G	G	A	rs141849195	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:248525348G>A	ENST00000366475.1	+	1	466	c.466G>A	c.(466-468)Gtg>Atg	p.V156M		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V156M(1)|p.V156L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACCGCTACGTGGCCATCTG	0.527000													46	498					0	0	0.870114	0	0
CUL4A	8451	broad.mit.edu	37	13	113897452	113897452	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:113897452C>T	ENST00000451881.1	+	11	1155	c.906C>T	c.(904-906)ccC>ccT	p.P302P	CUL4A_ENST00000375441.3_Silent_p.P302P|CUL4A_ENST00000375440.4_Silent_p.P402P|CUL4A_ENST00000326335.4_Silent_p.P302P	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	402					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.P302P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACAAGAGACCCAACAAGCCTG	0.418000													17	185					0	0	0.575678	0	0
CCDC97	90324	broad.mit.edu	37	19	41828555	41828555	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:41828555G>A	ENST00000269967.3	+	5	1089	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	323								p.E323K(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACGGGATGAGGAGGAGAGGTA	0.632000													62	434					0	0	0.870114	0	0
GLCE	26035	broad.mit.edu	37	15	69548421	69548421	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:69548421T>A	ENST00000261858.2	+	3	504	c.276T>A	c.(274-276)aaT>aaA	p.N92K	GLCE_ENST00000559420.2_Missense_Mutation_p.N28K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	92					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	p.N92K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGGGCTTCAATAGCAATGTGG	0.453000													75	410					0	0	0.870114	0	0
RPL19	6143	broad.mit.edu	37	17	37358692	37358692	+	Splice_Site	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:37358692G>T	ENST00000579260.1	+	3	632	c.229_splice	c.e3+1	p.G77_splice	RPL19_ENST00000579374.1_Splice_Site_p.G76_splice|RPL19_ENST00000582193.1_Splice_Site_p.G77_splice|RPL19_ENST00000225430.4_Splice_Site_p.G79_splice			P84098	RL19_HUMAN	ribosomal protein L19	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.G79C(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CATGGGCATAGGTAAGTGTGG	0.512000													17	78					7.87624e-14	9.12455e-14	0.639603	1	0
GPR85	54329	broad.mit.edu	37	7	112724255	112724255	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:112724255G>T	ENST00000501255.2	-	3	1145	c.522C>A	c.(520-522)ttC>ttA	p.F174L	GPR85_ENST00000297146.2_Missense_Mutation_p.F174L|GPR85_ENST00000424100.1_Missense_Mutation_p.F174L|GPR85_ENST00000449591.1_Missense_Mutation_p.F174L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	174						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F174L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGCGGTGTTGGAAGGTGCATT	0.478000													14	136					6.72482e-11	7.59015e-11	0.479597	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105948530	105948530	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:105948530C>G	ENST00000278618.4	+	1	315	c.93C>G	c.(91-93)gcC>gcG	p.A31A		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	31					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.A31A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CGAGCCGAGCCGAATGGCTGC	0.607000													10	63					0	0	0.575678	0	0
SYNE1	23345	broad.mit.edu	37	6	152680536	152680536	+	Missense_Mutation	SNP	C	C	A	rs139823841	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:152680536C>A	ENST00000367255.5	-	65	10958	c.10357G>T	c.(10357-10359)Ggg>Tgg	p.G3453W	SYNE1_ENST00000448038.1_Missense_Mutation_p.G3460W|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3460W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3453W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3453					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.G3453W(2)|p.G3460W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCCAGCCCCTTTGACTTCG	0.468000										HNSCC(10;0.0054)			34	107					1.414e-09	1.56714e-09	0.788014	1	0
GPR98	84059	broad.mit.edu	37	5	89943510	89943510	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:89943510C>G	ENST00000405460.2	+	17	3314	c.3218C>G	c.(3217-3219)tCc>tGc	p.S1073C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1073	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1073F(1)|p.S1073C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGCATATCCATATTTGTT	0.383000													37	255					0	0	0.847076	0	0
AKAP5	9495	broad.mit.edu	37	14	64935712	64935712	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:64935712C>T	ENST00000320636.5	+	1	1888	c.600C>T	c.(598-600)agC>agT	p.S200S	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Silent_p.S200S|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	200					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	p.S200S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CAAATGTGAGCAATAGCACAA	0.418000													17	76					0	0	0.592651	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905709	144905709	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:144905709T>A	ENST00000370490.1	+	1	6021	c.1766T>A	c.(1765-1767)gTc>gAc	p.V589D	SLITRK2_ENST00000413937.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V589D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	589						integral to membrane		p.V589D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAACCGTCTTGTCAATG	0.468000													8	62					0	0	0.307466	0	0
OR5D18	219438	broad.mit.edu	37	11	55587679	55587679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:55587679G>T	ENST00000333976.4	+	1	594	c.574G>T	c.(574-576)Gat>Tat	p.D192Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D192Y(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTCTTGCTCTGATACTTACAT	0.403000													61	653					1.55545e-33	1.94907e-33	0.870114	1	0
KIFC3	3801	broad.mit.edu	37	16	57805461	57805461	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:57805461G>C	ENST00000379655.4	-	5	776	c.519C>G	c.(517-519)caC>caG	p.H173Q	KIFC3_ENST00000540079.2_Missense_Mutation_p.H71Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.H34Q|KIFC3_ENST00000465878.2_Missense_Mutation_p.H34Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.H34Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.H173Q|KIFC3_ENST00000541240.1_Missense_Mutation_p.H195Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.H34Q|KIFC3_ENST00000539578.1_Missense_Mutation_p.H115Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	173					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	p.H173Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCACCTGGCTGTGCTCACAAC	0.642000													7	50					0	0	0.248553	0	0
ZNF112	7665	broad.mit.edu	37	19	44831777	44831777	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:44831777G>A	ENST00000354340.4	-	4	2584	c.2533C>T	c.(2533-2535)Cac>Tac	p.H845Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.H868Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H851Y	NM_013380.3	NP_037512.3			zinc finger protein 112									p.H851Y(1)|p.H845Y(1)									ACTCTCTGGTGAGCCTGAAGA	0.458000													42	375					0	0	0.870114	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414538	29414538	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:29414538G>C	ENST00000378993.1	+	4	1199	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E176Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	176	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E176Q(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCAACCAGAGAACCTGAAAT	0.368000													32	135					0	0	0.840704	0	0
PARN	5073	broad.mit.edu	37	16	14645891	14645891	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:14645891C>T	ENST00000437198.2	-	21	1608	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	PARN_ENST00000341484.7_Silent_p.E428E|PARN_ENST00000539279.1_Silent_p.E314E|PARN_ENST00000420015.2_Silent_p.E443E	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	489					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.E489E(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCTTTACTTGCTCGGGCTGGC	0.403000													88	429					0	0	0.870114	0	0
FAM86EP	348926	broad.mit.edu	37	4	3949798	3949798	+	RNA	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:3949798C>A	ENST00000281228.8	-	0	475				FAM86EP_ENST00000313946.8_RNA																							CGGTGCCCTGCCCTGCGCCCC	0.647000													3	22					0.115264	0.11602	0.115264	1	0
ENO1	2023	broad.mit.edu	37	1	8934896	8934896	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:8934896G>C	ENST00000234590.4	-	2	191	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	24					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L24L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TTGAGGTGAAGAGATCAACCT	0.438000													11	79					0	0	0.500413	0	0
RAG1	5896	broad.mit.edu	37	11	36596881	36596881	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:36596881G>C	ENST00000299440.5	+	2	2139	c.2027G>C	c.(2026-2028)aGt>aCt	p.S676T		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	676					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S676T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCCATCCTGAGTCCTCTCATT	0.512000									Familial Hemophagocytic Lymphohistiocytosis				55	105					0	0	0.870114	0	0
PPP4R4	57718	broad.mit.edu	37	14	94733329	94733329	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:94733329C>G	ENST00000304338.3	+	23	2566	c.2412C>G	c.(2410-2412)gtC>gtG	p.V804V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	804						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.V804V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAACTTCTGTCTCAGGGTTAG	0.303000													8	78					0	0	0.387290	0	0
ALK	238	broad.mit.edu	37	2	29498008	29498008	+	Silent	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:29498008G>T	ENST00000389048.3	-	11	2904	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	666					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P666P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATTTTCCCCGGGTTTCAGCT	0.463000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	45					2.27525e-19	2.72853e-19	0.667858	1	0
DOK5	55816	broad.mit.edu	37	20	53205055	53205055	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:53205055C>G	ENST00000262593.5	+	3	558	c.208C>G	c.(208-210)Cga>Gga	p.R70G	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	70	PH.						insulin receptor binding	p.R70G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACGTAGCTCGATTGCCAAA	0.408000													10	699					0	0	0.435327	0	0
CENPI	2491	broad.mit.edu	37	X	100382593	100382593	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:100382593C>T	ENST00000372927.1	+	10	1290	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	338					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.S338L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGTGGATCATTTCCACTA	0.378000													31	150					0	0	0.750413	0	0
HIBADH	11112	broad.mit.edu	37	7	27565834	27565834	+	Nonstop_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:27565834C>A	ENST00000265395.2	-	8	1216	c.1010G>T	c.(1009-1011)tGa>tTa	p.*337L		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	0					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.*337L(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	AGGGCACACTCAGAAGGTCTC	0.488000													20	48					6.44725e-10	7.19748e-10	0.624587	1	0
NAV3	89795	broad.mit.edu	37	12	78452814	78452814	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:78452814G>T	ENST00000397909.2	+	12	2728	c.2555G>T	c.(2554-2556)aGt>aTt	p.S852I	NAV3_ENST00000266692.7_Missense_Mutation_p.S852I|NAV3_ENST00000228327.6_Missense_Mutation_p.S852I|NAV3_ENST00000536525.2_Missense_Mutation_p.S852I|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	852						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S852I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATACTAGAAGTCTGAACCGA	0.398000										HNSCC(70;0.22)			25	201					4.59853e-10	5.17124e-10	0.693898	1	0
DSG1	1828	broad.mit.edu	37	18	28934418	28934418	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:28934418T>A	ENST00000257192.4	+	15	2471	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.P112P|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	753					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.P753P(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCTGGGACCTAAATTTAAGA	0.473000													61	271					0	0	0.870114	0	0
SIDT2	51092	broad.mit.edu	37	11	117050024	117050024	+	Silent	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:117050024G>T	ENST00000324225.4	+	1	576	c.45G>T	c.(43-45)tcG>tcT	p.S15S	SIDT2_ENST00000431081.2_Silent_p.S15S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	15						integral to membrane|lysosomal membrane		p.S15S(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGGTGGCCTCGGTCGAGAGCC	0.667000													3	61					0.184627	0.185231	0.184627	1	0
ZNF438	220929	broad.mit.edu	37	10	31139001	31139001	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:31139001C>A	ENST00000538351.1	-	7	940	c.186G>T	c.(184-186)atG>atT	p.M62I	ZNF438_ENST00000331737.6_Missense_Mutation_p.M101I|ZNF438_ENST00000436087.2_Missense_Mutation_p.M111I|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000361310.3_Missense_Mutation_p.M111I|ZNF438_ENST00000413025.1_Missense_Mutation_p.M111I|ZNF438_ENST00000442986.1_Missense_Mutation_p.M111I|ZNF438_ENST00000452305.1_Missense_Mutation_p.M101I|ZNF438_ENST00000444692.2_Missense_Mutation_p.M101I	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CAGGTAGGGACATTCTGGGTT	0.463000													5	200					0.0215528	0.0219824	0.217242	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:90161753T>C	ENST00000564451.1	+	0	1106				TUBB8P7_ENST00000567960.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													3	82					0	0	0.217242	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144396	91144396	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:91144396C>T	ENST00000371809.3	+	2	1406	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	442							binding	p.L442L(1)		endometrium(2)|large_intestine(3)|lung(8)	13						GTGTCAGCCTCCTTGGGCTTA	0.428000													102	408					0	0	0.870114	0	0
KLRC1	3821	broad.mit.edu	37	12	10599199	10599199	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:10599199G>C	ENST00000544822.1	-	8	1040	c.653C>G	c.(652-654)tCa>tGa	p.S218*	KLRC1_ENST00000408006.3_Nonsense_Mutation_p.S200*|KLRC1_ENST00000359151.3_Nonsense_Mutation_p.S218*|KLRC1_ENST00000347831.5_Nonsense_Mutation_p.S200*|KLRC1_ENST00000536188.1_Nonsense_Mutation_p.S218*	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	218	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.S218*(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACACTGGGCTGATTTAAGTCG	0.323000													62	238					0	0	0.870114	0	0
NTNG2	84628	broad.mit.edu	37	9	135073530	135073530	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:135073530G>A	ENST00000393229.3	+	3	1167	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	NTNG2_ENST00000372179.3_Missense_Mutation_p.V131M|NTNG2_ENST00000393228.4_Missense_Mutation_p.V131M|NTNG2_ENST00000360670.3_Missense_Mutation_p.V131M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	131	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.V131M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GAACAAGACCGTGGAGCTGAC	0.642000													6	30					0	0	0.278610	0	0
PRR21	643905	broad.mit.edu	37	2	240982137	240982137	+	Missense_Mutation	SNP	G	G	A	rs71420284		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:240982137G>A	ENST00000408934.1	-	1	262	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	88	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGCATGGATGAAGGACTGTG	0.607000													99	248					0	0	0.870114	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801351	140801351	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140801351G>A	ENST00000398587.2	+	1	590	c.557G>A	c.(556-558)aGa>aAa	p.R186K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R186K|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.R186K(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGGGCAGAACGGATGGG	0.542000													5	44					0	0	0.217242	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819359	50819359	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:50819359C>T	ENST00000374115.3	+	1	1013	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	191					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.F191F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCAGCCTTCGCCGACACGT	0.657000													8	17					0	0	0.335167	0	0
DCST2	127579	broad.mit.edu	37	1	155001740	155001740	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155001740C>T	ENST00000368424.3	-	8	1369	c.1311G>A	c.(1309-1311)cgG>cgA	p.R437R	DCST2_ENST00000295536.5_Silent_p.R437R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	437						integral to membrane		p.R437R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCTGGTGCCGGGCCAGGT	0.587000													8	98					0	0	0.361761	0	0
ARCN1	372	broad.mit.edu	37	11	118468445	118468445	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:118468445T>C	ENST00000359415.4	+	10	1553	c.1388T>C	c.(1387-1389)aTc>aCc	p.I463T	ARCN1_ENST00000264028.4_Missense_Mutation_p.I422T|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.I334T			P48444	COPD_HUMAN	archain 1	422	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		p.I422T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGCCTGTTATCGGTGAGATC	0.512000													10	55					0	0	0.361761	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8219171	8219171	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:8219171A>T	ENST00000361926.3	+	8	1630	c.1520A>T	c.(1519-1521)tAt>tTt	p.Y507F	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Y507F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	507	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Y507F(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTCTCGGTGTATGTGGATTAT	0.597000													19	40					0	0	0.639603	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	C	T	rs147787442		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:113673059C>T	ENST00000330212.3	+	3	973	c.674C>T	c.(673-675)cCt>cTt	p.P225L	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572000													5	131					0	0	0.184627	0	0
AREL1	9870	broad.mit.edu	37	14	75142464	75142464	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:75142464C>T	ENST00000356357.4	-	8	1533	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1									p.E340K(1)									GTGTGGCACTCAGAGGGCGAG	0.547000													32	536					0	0	0.750413	0	0
HEATR1	55127	broad.mit.edu	37	1	236755306	236755306	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:236755306C>A	ENST00000366582.3	-	11	1523	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	HEATR1_ENST00000366581.2_Missense_Mutation_p.G470V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	470					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.G470V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATACTTTCCTCCACTTGTAGA	0.368000													25	100					3.90053e-15	4.53584e-15	0.760397	1	0
DSCAM	1826	broad.mit.edu	37	21	41741116	41741116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:41741116C>T	ENST00000400454.1	-	4	1042	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	189	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E189K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATCCATCTTCATTCTGTACA	0.428000													9	75					0	0	0.307466	0	0
NCAPD3	23310	broad.mit.edu	37	11	134048744	134048744	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:134048744G>T	ENST00000534548.2	-	21	2711	c.2647C>A	c.(2647-2649)Ctg>Atg	p.L883M	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	883					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.L883M(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACGAAGCCAGGACGGACTGA	0.478000													4	105					3.59834e-05	3.80927e-05	0.217242	1	0
DMXL2	23312	broad.mit.edu	37	15	51792347	51792347	+	Missense_Mutation	SNP	C	C	T	rs138911498		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:51792347C>T	ENST00000251076.5	-	18	3361	c.3074G>A	c.(3073-3075)cGc>cAc	p.R1025H	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1025H|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1025						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R1025H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTCCAGAAGCGTACTTTATT	0.363000													22	178					0	0	0.639603	0	0
ALPK2	115701	broad.mit.edu	37	18	56204800	56204800	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:56204800C>A	ENST00000361673.3	-	5	2832	c.2619G>T	c.(2617-2619)gtG>gtT	p.V873V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	873							ATP binding|protein serine/threonine kinase activity	p.V873V(1)|p.V239V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCACGTAGACACTGAAGTCT	0.433000													6	61					0.0215528	0.0219824	0.217242	1	0
IMMP1L	196294	broad.mit.edu	37	11	31477921	31477921	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:31477921C>A	ENST00000278200.1	-	5	402	c.207G>T	c.(205-207)gtG>gtT	p.V69V	IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.V69V	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	69					proteolysis	mitochondrial inner membrane	serine-type peptidase activity	p.V69V(1)		breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TTTTTGCAATCACAATGTCAC	0.343000													21	82					6.32553e-13	7.27318e-13	0.681144	1	0
KCNQ4	9132	broad.mit.edu	37	1	41289922	41289923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:41289922_41289923insG	ENST00000347132.5	+	9	1366_1367	c.1284_1285insG	c.(1282-1287)ccgggafs	p.PG428fs	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Intron	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	428					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCTTCTGCCCTGGGGAAAGGTA	0.678													2	4	---	---	---	---					
GON4L	54856	broad.mit.edu	37	1	155734980	155734981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155734980_155734981insG	ENST00000437809.1	-	21	4405_4406	c.4283_4284insC	c.(4282-4284)cggfs	p.R1428fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.R1428fs			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGCTTCCCTGGGGGGCTACT	0.515													7	251	---	---	---	---					
TEX35	84066	broad.mit.edu	37	1	178489899	178489899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:178489899delG	ENST00000367641.3	+	7	492	c.433delG	c.(433-435)gafs	p.G145fs	TEX35_ENST00000367639.1_Frame_Shift_Del_p.G153fs|TEX35_ENST00000319416.2_Frame_Shift_Del_p.G145fs|TEX35_ENST00000258298.2_Frame_Shift_Del_p.G69fs|TEX35_ENST00000367643.3_Frame_Shift_Del_p.G145fs|TEX35_ENST00000367642.3_3'UTR					testis expressed 35																		GAAAATGGATGGAGCCAGTGG	0.532													45	321	---	---	---	---					
SLC15A2	6565	broad.mit.edu	37	3	121648154	121648154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:121648154delG	ENST00000489711.1	+	17	1900	c.1512delG	c.(1510-1512)aafs	p.K504fs	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Frame_Shift_Del_p.K473fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	504					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTAGGTAAAGGATACAGAAA	0.388													43	604	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													8	1367	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													7	222	---	---	---	---					
TNFSF10	8743	broad.mit.edu	37	3	172241148	172241149	+	Frame_Shift_Ins	INS	-	-	C	rs138912628		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172241148_172241149insC	ENST00000241261.2	-	1	148_149	c.26_27insG	c.(25-27)gccfs	p.A9fs	TNFSF10_ENST00000420541.2_Frame_Shift_Ins_p.A9fs	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	9					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCTGGGTCCCCCCTGGAC	0.535													7	797	---	---	---	---					
RP11-679C8.2	0	broad.mit.edu	37	4	121288936	121288937	+	RNA	INS	-	-	GAA	rs143759403	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:121288936_121288937insGAA	ENST00000508362.1	+	0	286				RP11-679C8.2_ENST00000504106.1_RNA																							aagaagaagatgaagaagaaga	0.411													8	3	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													9	311	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													7	219	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26426748	26426748	+	RNA	DEL	C	C	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:26426748delC	ENST00000466808.2	+	0	1064																											CATTTTTATTCCAGGTTAGTT	0.527													78	365	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98548545	98548546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:98548545_98548546insG	ENST00000359863.4	+	38	5569_5570	c.5360_5361insG	c.(5359-5361)aggfs	p.R1787fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.R1769fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.R1768fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1787					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTTTGAGAAGGGGGAAGGAG	0.411													7	821	---	---	---	---					
EPHB6	2051	broad.mit.edu	37	7	142562397	142562398	+	Frame_Shift_Ins	INS	-	-	C	rs145544148		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:142562397_142562398insC	ENST00000392957.2	+	7	1626_1627	c.839_840insC	c.(838-840)accfs	p.T280fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.T280fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	280	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGGAGGCAGCCCCCCCAGGC	0.688													7	60	---	---	---	---					
RP11-175E9.1	0	broad.mit.edu	37	8	23632362	23632362	+	RNA	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:23632362delG	ENST00000523874.1	+	0	75																											tggtgaagatggtgcctttcc	0.512													2	4	---	---	---	---					
PROSER2	254427	broad.mit.edu	37	10	11911725	11911726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:11911725_11911726insA	ENST00000277570.5	+	4	782_783	c.628_629insA	c.(628-630)cctfs	p.P210fs	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Frame_Shift_Ins_p.P14fs|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		GGGGAACGAAGCCCTCTCGCCC	0.738													3	5	---	---	---	---					
GDF2	2658	broad.mit.edu	37	10	48414131	48414131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:48414131delG	ENST00000249598.1	-	2	896	c.737delC	c.(736-738)cafs	p.P246fs		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	246					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTGGAACCTGGGGGGACACT	0.567													7	26	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20874949	20874949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:20874949delG	ENST00000381552.1	+	8	1355	c.987delG	c.(985-987)cafs	p.Q329fs	SLCO1C1_ENST00000266509.2_Frame_Shift_Del_p.Q329fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.Q329fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.Q280fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.Q211fs			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	329					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAACACCCCAGGGAGAAAATG	0.343													34	46	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cgafs	p.R144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624													7	643	---	---	---	---					
VWA8	23078	broad.mit.edu	37	13	42407556	42407560	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:42407556_42407560delGCAGG	ENST00000379310.3	-	13	1601_1605	c.1533_1537delCCTGC	c.(1531-1539)gttgfs	p.VLL511fs	VWA8_ENST00000281496.6_Frame_Shift_Del_p.VLL511fs	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		ATGCCATCCAGCAGGACCAGCTTGC	0.546													10	259	---	---	---	---					
LINC01500	102723742	broad.mit.edu	37	14	59350589	59350590	+	RNA	INS	-	-	TG	rs146077575	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:59350589_59350590insTG	ENST00000553762.1	+	0	322																											ACAACCTCCACtgtgtgtgtgt	0.450													4	1	---	---	---	---					
C14orf180	400258	broad.mit.edu	37	14	105054102	105054103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:105054102_105054103insC	ENST00000557649.1	+	3	464_465	c.128_129insC	c.(127-129)tccfs	p.S43fs	C14orf180_ENST00000331952.2_Frame_Shift_Ins_p.S43fs|C14orf180_ENST00000410013.1_Frame_Shift_Ins_p.S43fs			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	43						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AACAGGAAGTGCCCCCCCTCCA	0.703													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579536	7579545	+	Frame_Shift_Del	DEL	CAATATCGTC	CAATATCGTC	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:7579536_7579545delCAATATCGTC	ENST00000420246.2	-	4	274_283	c.142_151delGACGATATTG	c.(142-153)aafs	p.DDIE48fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DDIE48fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	48	Interaction with HRMT1L2.		D -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E51*(6)|p.D49H(5)|p.E51fs*6(3)|p.D49N(3)|p.I50fs*73(3)|p.D49Y(2)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.I50fs*1(1)|p.D48D(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S46_D49delSPDD(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACCATTGTTCAATATCGTCCGGGGACAGC	0.605		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			91	1353	---	---	---	---					
STXBP4	252983	broad.mit.edu	37	17	53155556	53155559	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:53155556_53155559delGTAA	ENST00000376352.2	+	14	1512		c.e14+1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTTTGTAGAGGTAAGTTTTTCTGT	0.328													9	53	---	---	---	---					
CYP4F35P	284233	broad.mit.edu	37	18	14340876	14340877	+	RNA	INS	-	-	G	rs59369995		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:14340876_14340877insG	ENST00000582957.1	+	0	1873					NR_026756.1																						aaggggaaccaggggggatggc	0.589													2	4	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16646370	16646371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:16646370_16646371insG	ENST00000546361.2	-	3	427_428	c.276_277insC	c.(274-279)ccccgcfs	p.R93fs	CHERP_ENST00000198939.6_Frame_Shift_Ins_p.R93fs|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	93					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGGGCGCGGCGGGGGCCAGCG	0.713													2	4	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38885396	38885397	+	Frame_Shift_Ins	INS	-	-	C	rs142553701	by1000genomes	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:38885396_38885397insC	ENST00000587013.1	+	4	747_748	c.669_670insC	c.(667-672)acccccfs	p.TP223fs	SPRED3_ENST00000586301.1_Frame_Shift_Ins_p.TP179fs|SPRED3_ENST00000338502.4_Frame_Shift_Ins_p.TP179fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	179	KBD.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGACCACGCCCCCCCAGCG	0.733													3	5	---	---	---	---					
AP001347.6	0	broad.mit.edu	37	21	15470535	15470535	+	RNA	DEL	A	A	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:15470535delA	ENST00000428809.1	+	0	372																											caccatcaccaatcatcacca	0.463													2	4	---	---	---	---					
FRMPD4	9758	broad.mit.edu	37	X	12734936	12734937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:12734936_12734937insC	ENST00000380682.1	+	15	2864_2865	c.2358_2359insC	c.(2356-2361)ctccccfs	p.LP786fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	786					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCACATCCCTGCCCCCTCCAGA	0.564													7	834	---	---	---	---					
DLG3	1741	broad.mit.edu	37	X	69665334	69665335	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:69665334_69665335insC	ENST00000194900.4	+	1	624_625	c.283_284insC	c.(283-285)cccfs	p.P95fs	DLG3_ENST00000374360.3_Frame_Shift_Ins_p.P95fs			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	95					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGCAAGAGCACCCCCAAACTC	0.698													2	4	---	---	---	---					
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1351-1356)tcggggfs	p.SG451fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	451					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579													8	165	---	---	---	---