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
CMTM8	152189	broad.mit.edu	37	3	32398872	32398872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:32398872G>A	ENST00000307526.3	+	2	449	c.155G>A	c.(154-156)gGg>gAg	p.G52E	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	52	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CAGGTTCTGGGGCTGCTGGTA	0.463000													18	162					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149221414	149221414	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:149221414C>A	ENST00000407073.1	+	8	1320	c.323C>A	c.(322-324)gCa>gAa	p.A108E	MBD5_ENST00000404807.1_Missense_Mutation_p.A108E	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	108						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAAATTATTGCAGTGGCCACA	0.438000													11	106					1.61879e-10	1.68511e-10	1	1	0
TMUB1	83590	broad.mit.edu	37	7	150778904	150778904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:150778904C>T	ENST00000392818.3	-	3	830	c.473G>A	c.(472-474)aGc>aAc	p.S158N	TMUB1_ENST00000297533.4_Missense_Mutation_p.S158N|TMUB1_ENST00000462940.1_Missense_Mutation_p.S158N|TMUB1_ENST00000482202.1_Missense_Mutation_p.S158N|TMUB1_ENST00000476627.1_Missense_Mutation_p.S158N	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	158	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGTGAAGGCTGCCCAGGGT	0.682000													6	26					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676930	54676930	+	Silent	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:54676930T>C	ENST00000340913.6	+	8	872	c.819T>C	c.(817-819)ggT>ggC	p.G273G	HNRNPA1_ENST00000330752.8_Intron|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000546500.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	273	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTGGACAGGGTTATGGAAACC	0.532000													7	18					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823666	167823666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:167823666C>T	ENST00000367848.1	-	18	2454	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	ADCY10_ENST00000545172.1_Missense_Mutation_p.E592K|ADCY10_ENST00000367851.4_Missense_Mutation_p.E745K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	745					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCATGATGTTCCAGGTTTTTA	0.423000													67	101					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79460487	79460487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:79460487G>A	ENST00000264895.6	+	73	11778	c.11338G>A	c.(11338-11340)Gat>Aat	p.D3780N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3775					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTACTTCCATGATGTGCCTTT	0.418000													25	98					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39308097	39308097	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:39308097G>A	ENST00000221418.4	-	4	700	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCACCCTCTCGATGACGTTGA	0.592000													15	31					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21817065	21817065	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:21817065T>A	ENST00000382254.1	-	9	2077	c.991A>T	c.(991-993)Aaa>Taa	p.K331*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.K291*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.K331*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	331	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TTTTTCAATTTGATGACTCCC	0.294000										HNSCC(59;0.17)			28	228					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002435	52002435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:52002435C>T	ENST00000291707.3	-	4	1179	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G257E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	375	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGCCATCTCCTTGGAAGAC	0.567000													27	84					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801324	185801324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:185801324C>T	ENST00000302277.6	+	4	1795	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	401						intracellular	zinc ion binding	p.P401T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACATTGGCCCCTTCAAATAC	0.383000													25	79					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149398	34149398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:34149398C>T	ENST00000346193.3	-	1	1049	c.998G>A	c.(997-999)gGa>gAa	p.G333E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	333										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGGACTCTCCAGTCTCCGG	0.637000													27	44					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31153278	31153278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:31153278C>T	ENST00000268281.4	-	11	1583	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	PRSS36_ENST00000569305.1_Missense_Mutation_p.D504N|PRSS36_ENST00000418068.2_Missense_Mutation_p.D509N	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	509	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAACGCGAGTCATTCTGCAGC	0.542000													19	147					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091185	147091185	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:147091185C>T	ENST00000234739.3	+	8	1964	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	408	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAATACAGGCCATGATGGCCC	0.537000			T	"""IGH@, IGL@"""	B-ALL								75	127					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36030874	36030874	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:36030874C>T	ENST00000373243.2	+	7	2183	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	NCDN_ENST00000373253.3_Silent_p.I583I|NCDN_ENST00000356090.4_Silent_p.I600I	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	600					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCTGCCATCCTCTTCCTAT	0.632000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	175					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987868	123987868	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:123987868G>A	ENST00000360013.3	+	5	856	c.729G>A	c.(727-729)gaG>gaA	p.E243E	KALRN_ENST00000460856.1_Silent_p.E243E|KALRN_ENST00000240874.3_Silent_p.E243E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	243					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCCTGTGGAGGAGCTGGACC	0.627000													14	40					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23959805	23959805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:23959805C>T	ENST00000317749.5	-	7	773	c.476G>A	c.(475-477)cGa>cAa	p.R159Q		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	159	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						atcttcaCTTCGTGGTAGGCA	0.448000													32	84					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955657	18955657	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:18955657G>A	ENST00000302797.3	-	1	899	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	225					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACAGAGGAGGAAGACCAGTA	0.493000													10	57					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000118	56000118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:56000118G>A	ENST00000313264.4	-	1	619	c.544C>T	c.(544-546)Cca>Tca	p.P182S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTGATGAGTGGCATGTAGACT	0.448000													48	114					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205156	26205156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:26205156G>A	ENST00000360441.4	+	1	299	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	95					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				AAGAGACAGGGACGCACTCTT	0.527000													14	71					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049889	9049889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:9049889G>A	ENST00000397910.4	-	5	31945	c.31742C>T	c.(31741-31743)cCg>cTg	p.P10581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10583	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TTGAATAACCGGACTTCTCTC	0.483000													32	107					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040197	88040197	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:88040197C>T	ENST00000319595.4	+	1	352	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	100					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGACATTTGGCTGAGTGTTGA	0.478000													18	66					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720524	73720524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:73720524C>T	ENST00000427855.1	+	12	1259	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	PAPLN_ENST00000555445.1_Missense_Mutation_p.S386F|PAPLN_ENST00000340738.5_Missense_Mutation_p.S359F|PAPLN_ENST00000381166.3_Missense_Mutation_p.S386F|PAPLN_ENST00000554301.1_Missense_Mutation_p.S386F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	386	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAGTCCCGCTCCGTGTACTGC	0.682000													12	95					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9675003	9675003	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:9675003C>T	ENST00000330255.4	-	6	753	c.741G>A	c.(739-741)agG>agA	p.R247R	DHRS7C_ENST00000571134.1_Silent_p.R246R	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	247						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AGGTCAGCTTCCTGAAAAAGA	0.627000													3	16					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692622	20692622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:20692622C>T	ENST00000315519.2	+	1	832	c.754C>T	c.(754-756)Cga>Tga	p.R252*		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGGTGCTGGTCGAACTAAAGC	0.488000													32	50					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98529133	98529133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:98529133G>A	ENST00000359863.4	+	26	3906	c.3697G>A	c.(3697-3699)Gcc>Acc	p.A1233T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1233T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1232T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1233					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)			GATCGTGGCCGCCCAGGAAAA	0.557000													6	61					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432909	104432909	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:104432909G>A	ENST00000361820.3	-	3	2385	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	595					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.F595F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TATAGAGGTCGAAGTCAAAGT	0.453000													15	64					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648472	56648472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:56648472G>A	ENST00000267116.7	-	7	704	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	195							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCTGCTCCCCGTGCCACCAGC	0.532000													5	29					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667221	72667221	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:72667221C>T	ENST00000373514.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CCTCCAATTTCGCTGCGGCAC	0.642000													19	44					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603378	52603378	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr13:52603378C>T	ENST00000521776.2	+	2	1171	c.438C>T	c.(436-438)atC>atT	p.I146I	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	146					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGGACCCTATCATCCTGAAGA	0.498000													22	48					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539907	31539907	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:31539907G>A	ENST00000302312.4	+	3	307	c.204G>A	c.(202-204)caG>caA	p.Q68Q	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	68					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGCTCTGCAGGAGCTTCGGC	0.562000													11	60					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713878	30713878	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:30713878C>T	ENST00000295754.5	+	4	1585	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	TGFBR2_ENST00000359013.4_Silent_p.S426S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	401	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTGGGCTTTCCCTGCGTCTGG	0.557000													94	346					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586224	106586224	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:106586224G>A	ENST00000390602.2	-	0	340																											CTCTGGAGATGGTGAATCGGC	0.522000													30	197					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39658074	39658074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:39658074G>A	ENST00000361337.2	+	2	287	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	13					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TTTCCAGATCGAAGCGGATTT	0.687000			T	NUP98	AML*								18	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069742	9069742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:9069742C>T	ENST00000397910.4	-	3	17907	c.17704G>A	c.(17704-17706)Gag>Aag	p.E5902K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5904	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GTAGTGGTCTCCTCTGAGTGT	0.527000													20	127					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170070706	170070706	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:170070706C>A	ENST00000333572.6	-	4	934	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000448612.1_Missense_Mutation_p.A139S|WDR27_ENST00000420344.2_Missense_Mutation_p.A139S			A2RRH5	WDR27_HUMAN	WD repeat domain 27	139										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCACACACGGCAACAACATGA	0.493000													31	69					3.99451e-17	4.32738e-17	1	1	0
RNF219	79596	broad.mit.edu	37	13	79233210	79233210	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr13:79233210T>C	ENST00000282003.6	-	1	104	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	16							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TGGCACGTGATGGGCAGAGTG	0.582000													3	18					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222942	44222942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:44222942G>A	ENST00000244314.5	+	2	431	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	78						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGTGGCCTGGAGGCCGAGGA	0.682000													55	87					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111886190	111886190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:111886190C>T	ENST00000277900.8	+	12	1902	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ADD3_ENST00000360162.3_Nonsense_Mutation_p.R513*|ADD3_ENST00000356080.4_Nonsense_Mutation_p.R513*	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	513						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GGAACAAAATCGATATGACTT	0.353000													14	32					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132398342	132398342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:132398342C>T	ENST00000321867.4	+	15	1559	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	403	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGGACCCCATCTCCATCCCCA	0.647000													19	33					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410058	63410058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:63410058G>A	ENST00000330258.3	-	2	3381	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCCTGTGGCTGGAGGTTATAG	0.597000													11	29					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907368	164907368	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:164907368G>T	ENST00000475390.1	-	2	1694	c.1251C>A	c.(1249-1251)agC>agA	p.S417R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S417R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	417						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAATCAGATTGCTACTCAGAT	0.403000										HNSCC(40;0.11)			12	77					1.41608e-15	1.52522e-15	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5373584	5373584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:5373584C>T	ENST00000380219.1	+	1	847	c.847C>T	c.(847-849)Cct>Tct	p.P283S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTTTCCCACCTTTTATGAA	0.383000													49	163					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41907113	41907113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:41907113G>A	ENST00000398393.1	-	5	685	c.425C>T	c.(424-426)cCc>cTc	p.P142L	MPP3_ENST00000398389.4_Missense_Mutation_p.P117L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	117	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CGGGAGAACGGGGTCAAAATT	0.552000													33	111					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478433	79478433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:79478433C>T	ENST00000575842.1	-	3	1009	c.583G>A	c.(583-585)Gag>Aag	p.E195K	ACTG1_ENST00000331925.2_Missense_Mutation_p.E195K|ACTG1_ENST00000575087.1_Missense_Mutation_p.E195K|ACTG1_ENST00000573283.1_Missense_Mutation_p.E195K			P63261	ACTG_HUMAN	actin, gamma 1	195					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TAGCCTCGCTCAGTGAGGATC	0.637000													24	90					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552783	95552783	+	RNA	SNP	C	C	T	rs12717784	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:95552783C>T	ENST00000568768.1	-	0	476																											GTCATAAAGACGAAGGATTAT	0.388000													4	46					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271640	15271640	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:15271640A>G	ENST00000263388.2	-	33	6874	c.6799T>C	c.(6799-6801)Tcc>Ccc	p.S2267P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2267					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGATTCGGACCAGTCTGAG	0.667000													15	72					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393413	164393413	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:164393413C>G	ENST00000280605.3	-	1	1634	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	492						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGCCAATCTCAAAATTTTCT	0.463000													29	116					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746611	158746611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:158746611C>T	ENST00000339258.1	-	1	814	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGCAAGTGTTCGGTCAAGGGT	0.433000													34	74					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658854	49658854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:49658854C>T	ENST00000249601.4	-	9	1614	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.G350R|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.G273R|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.G281R|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.G446R|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.G456R|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.G331R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	440	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCGGGCTTCCCGATAGGGAC	0.692000													3	5					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	rs141203655	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602000													43	512					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379177	23379177	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:23379177G>A	ENST00000343070.2	+	5	953	c.776_splice	c.e5-1	p.R259_splice	SCNN1B_ENST00000568085.1_Splice_Site_p.R259_splice|SCNN1B_ENST00000568923.1_Splice_Site_p.R232_splice|SCNN1B_ENST00000307331.5_Splice_Site_p.R304_splice	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	259					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTTCTTTTAGGAACTTCACGT	0.537000													22	114					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042451	100042451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:100042451G>A	ENST00000324341.1	+	1	921	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	167								p.E167K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGTTCACTGGGAAAACCTTGT	0.488000													22	40					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178990886	178990886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:178990886C>T	ENST00000286070.5	+	9	1500	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	472					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ATCTAACAAACGGCAAAGAAC	0.348000													14	67					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102446	73102446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:73102446G>A	ENST00000264839.7	+	27	4099	c.4099G>A	c.(4099-4101)Gat>Aat	p.D1367N	RIMS1_ENST00000521978.1_Missense_Mutation_p.D1518N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1168N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1197N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D652N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D586N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1301N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1341N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D45N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1117N|RIMS1_ENST00000538414.1_Missense_Mutation_p.D324N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.D838N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1301N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D643N			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1518	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCAATTCAGTGATTTTCTTGA	0.408000													34	55					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35852766	35852766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:35852766C>T	ENST00000314607.6	+	12	2079	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.Q578*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	667					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCTGGTCTCCAGCGTCTCGC	0.517000													8	69					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													94	125					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31994894	31994894	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:31994894C>T	ENST00000435363.2	+	20	2671	c.2587C>T	c.(2587-2589)Ctg>Ttg	p.L863L	C4B_ENST00000425700.2_Silent_p.L863L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	863					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGATAAAAACCTGACTGTGAG	0.632000													14	144					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12183367	12183367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:12183367G>A	ENST00000263932.2	+	9	1195	c.973G>A	c.(973-975)Gag>Aag	p.E325K	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E214K	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	325					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACCTTTGAGGCGCCACC	0.617000													14	19					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166987157	166987157	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:166987157G>A	ENST00000367872.4	+	10	1246	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.V303V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	334					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCAATAGTGTGACACCCAAAA	0.443000													62	86					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084514	9084514	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:9084514G>C	ENST00000397910.4	-	1	7504	c.7301C>G	c.(7300-7302)aCc>aGc	p.T2434S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2434	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T2434S(2)		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						AAGAGAATAGGTGTTACTGGA	0.512000													7	49					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489104	72489104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:72489104G>A	ENST00000373208.1	+	5	925	c.925G>A	c.(925-927)Gtc>Atc	p.V309I	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.V309I	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	309	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TATTGCCCTCGTCCGCTTGAT	0.483000													12	54					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036313	102036313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:102036313G>A	ENST00000549145.1	+	10	846	c.746G>A	c.(745-747)gGc>gAc	p.G249D	MYBPC1_ENST00000545503.2_Missense_Mutation_p.G236D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G236D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G222D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G224D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G217D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G236D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G236D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G210D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G261D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G236D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G261D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G223D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G236D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G137D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	236					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCTGCGCGGCATGCTCAAG	0.627000													3	22					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824016	70824016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:70824016G>A	ENST00000373695.1	+	7	1426	c.889G>A	c.(889-891)Gac>Aac	p.D297N	ACRC_ENST00000373696.3_Missense_Mutation_p.D297N			Q96QF7	ACRC_HUMAN	acidic repeat containing	297	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTTCCGACGACAGCAGTGA	0.522000													55	293					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113159	160113159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:160113159C>T	ENST00000327245.5	-	6	1243	c.397G>A	c.(397-399)Gat>Aat	p.D133N	CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	133					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCATGCCATCCTTGATCATG	0.433000													5	71					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165891	3165891	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:3165891G>T	ENST00000602557.1	-	25	4324	c.3769C>A	c.(3769-3771)Ctg>Atg	p.L1257M	CSMD1_ENST00000542608.1_Missense_Mutation_p.L1256M|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1257M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1257M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1257M|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1256M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1256M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1257	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACAGGTCAGGGTGTTGCTG	0.527000													9	51					0.000442599	0.000444987	1	1	0
NNT	23530	broad.mit.edu	37	5	43700295	43700295	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:43700295A>G	ENST00000264663.5	+	20	3172	c.2951A>G	c.(2950-2952)tAt>tGt	p.Y984C	NNT_ENST00000512996.2_Missense_Mutation_p.Y853C|NNT_ENST00000344920.4_Missense_Mutation_p.Y984C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	984					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGTGTGCCATATGACATTGTG	0.438000													19	147					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320664	52320664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:52320664C>T	ENST00000356297.4	-	17	3620	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E1174K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1174					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.E373Q(1)|p.E1174Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTTTAATTTCATTTTGAAGA	0.358000													10	52					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524505	187524505	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:187524505G>A	ENST00000441802.2	-	19	11384	c.11175C>T	c.(11173-11175)atC>atT	p.I3725I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3725					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAACTCCAATGATTTCCTCAA	0.443000										HNSCC(5;0.00058)			6	49					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570357	53570357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:53570357C>T	ENST00000025008.5	-	15	2555	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	RB1CC1_ENST00000435644.2_Missense_Mutation_p.D678N|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D678N	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	678					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATAAGGGATCCTGAACAGTC	0.433000													9	129					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465995	160465995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:160465995G>A	ENST00000368059.3	-	2	307	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	SLAMF6_ENST00000368057.3_Missense_Mutation_p.P80S|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	80						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CCCTGTTTCGGATTAGTCACG	0.468000													25	200					0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145700630	145700630	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:145700630G>A	ENST00000377317.4	-	2	767	c.189C>T	c.(187-189)gtC>gtT	p.V63V	FOXH1_ENST00000525197.1_Intron	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	63					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACACGGCCTGGACCTGACGGA	0.662000													14	37					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21110198	21110198	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr18:21110198T>A	ENST00000269221.3	+	18	1715	c.1605T>A	c.(1603-1605)tgT>tgA	p.C535*	C18orf8_ENST00000590868.1_Nonsense_Mutation_p.C487*|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	535	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCAGGCTTGTCTGCTGTTAT	0.388000													19	107					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411269	23411269	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:23411269A>T	ENST00000379361.4	+	3	2494	c.1634A>T	c.(1633-1635)cAg>cTg	p.Q545L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	545					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACTACTGCCCAGCAAAAGTAC	0.418000													22	158					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119413929	119413929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:119413929G>A	ENST00000313400.4	-	17	3050	c.2950C>T	c.(2950-2952)Cca>Tca	p.P984S	ASTN2_ENST00000373996.3_Missense_Mutation_p.P980S|ASTN2_ENST00000288520.5_Missense_Mutation_p.P85S|ASTN2_ENST00000361477.3_Missense_Mutation_p.P36S|ASTN2_ENST00000361209.2_Missense_Mutation_p.P933S|ASTN2_ENST00000358637.4_Missense_Mutation_p.P36S|ASTN2_ENST00000341734.4_Missense_Mutation_p.P36S			O75129	ASTN2_HUMAN	astrotactin 2	984						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGTAGATGGACAGCGCCCC	0.562000													20	109					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152158823	152158823	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:152158823C>A	ENST00000439251.1	-	2	1758	c.1320G>T	c.(1318-1320)atG>atT	p.M440I	PNMA5_ENST00000361887.5_Missense_Mutation_p.M440I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M440I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M440I	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	440					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATGGCTCATGGCCCCAG	0.617000													15	215					3.35478e-16	3.62731e-16	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140348394	140348394	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140348394G>A	ENST00000289269.5	+	1	2575	c.2043G>A	c.(2041-2043)gtG>gtA	p.V681V	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		681	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTGTGGTGGATAGGGTTT	0.473000													15	50					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613765	14613765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:14613765C>T	ENST00000544627.1	+	9	2839	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P831L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P831L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P832L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P832L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	832					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACCAAAAATCCAGTATCCTTG	0.473000													18	149					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694081	129694081	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:129694081T>A	ENST00000422113.2	-	5	1753	c.1427A>T	c.(1426-1428)gAt>gTt	p.D476V	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	476						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACGTCTTCATCAGACGATCT	0.592000													8	53					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	39					4.096e-09	4.22447e-09	1	1	0
IQUB	154865	broad.mit.edu	37	7	123152202	123152202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:123152202C>T	ENST00000466202.1	-	2	769	c.193G>A	c.(193-195)Gac>Aac	p.D65N	IQUB_ENST00000324698.6_Missense_Mutation_p.D65N|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.D65N			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	65										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAGCTTTGGTCACTCTGCTCC	0.423000													29	242					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735788	158735788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:158735788G>A	ENST00000335094.2	-	1	704	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGCTGAGGGAATTCTGAGC	0.498000													87	139					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119594348	119594348	+	Silent	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:119594348C>G	ENST00000267260.4	+	13	1969	c.1581C>G	c.(1579-1581)tcC>tcG	p.S527S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	527	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCTCATCCGGCAGCCTCA	0.701000													12	43					0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776381	44776381	+	Silent	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:44776381T>C	ENST00000396048.2	+	3	905	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AGAGAAGTCATTCTGGAGATA	0.413000													29	82					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721287	176721287	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:176721287C>T	ENST00000439151.2	+	23	6963	c.6918C>T	c.(6916-6918)tcC>tcT	p.S2306S	NSD1_ENST00000347982.4_Silent_p.S2037S|NSD1_ENST00000354179.4_Silent_p.S2037S|NSD1_ENST00000361032.4_Silent_p.S2203S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2306	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGACCAAATCCCAATCCTTGG	0.572000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			64	113					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643900	138643900	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:138643900T>C	ENST00000394800.2	+	6	1345	c.796T>C	c.(796-798)Ttt>Ctt	p.F266L	MATR3_ENST00000361059.2_Missense_Mutation_p.F266L|MATR3_ENST00000502929.1_Missense_Mutation_p.F266L|MATR3_ENST00000509990.1_Missense_Mutation_p.F266L|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.F266L|MATR3_ENST00000394805.3_Missense_Mutation_p.F266L|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron			P43243	MATR3_HUMAN	matrin 3	266						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGATCTCTCTTTGAGAAAAA	0.438000													15	121					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53091531	53091531	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:53091531C>T	ENST00000341809.3	-	2	721	c.693G>A	c.(691-693)gcG>gcA	p.A231A	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCATCTGCTCCGCACTGAGCA	0.582000													104	451					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208414	138208414	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:138208414G>A	ENST00000409968.1	+	15	3137		c.e15-1		THSD7B_ENST00000413152.2_Splice_Site|THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTTCTGTCAGGTTACATTCA	0.348000													5	52					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311159	150311159	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:150311159C>T	ENST00000520773.1	-	0	2162																											AAGGTTTCTCCCCAGTATGAG	0.393000													22	30					0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836809	70836809	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:70836809G>A	ENST00000373691.4	-	2	817	c.654C>T	c.(652-654)acC>acT	p.T218T	CXCR3_ENST00000373693.3_Silent_p.T171T	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	171					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CAGCCAGGCAGGTGAGGGTCA	0.657000													5	39					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110139	106110139	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:106110139C>T	ENST00000390545.2	-	0	478																											CACCTCCACGCCGTCCACGTA	0.612000													34	405					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547907	97547907	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:97547907G>A	ENST00000370192.3	-	22	2986	c.2886C>T	c.(2884-2886)acC>acT	p.T962T		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	962	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AATCATTACAGGTCATGTAGC	0.393000													68	112					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68191931	68191931	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:68191931C>T	ENST00000349223.5	+	4	1785	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.L521L|NFATC3_ENST00000575270.1_Silent_p.L521L|NFATC3_ENST00000329524.4_Silent_p.L521L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	521	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TACAAAAGTTCTGGAAATTCC	0.358000													5	49					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10263898	10263898	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:10263898C>T	ENST00000360566.2	+	4	825	c.534C>T	c.(532-534)tcC>tcT	p.S178S	RRM2_ENST00000304567.5_Silent_p.S118S	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	118					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		ACTGGGAATCCCTGAAACCCG	0.438000													49	121					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21365899	21365899	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:21365899T>G	ENST00000311048.7	+	5	937	c.793T>G	c.(793-795)Tgt>Ggt	p.C265G	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATGTGAAGAATGTGGCAAAGC	0.383000													7	85					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567644	5567644	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:5567644C>G	ENST00000331789.5	-	5	1166	c.975G>C	c.(973-975)atG>atC	p.M325I	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	325					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCTTGATCTTCATTGTGCTGG	0.602000													27	255					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458399	45458399	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:45458399C>T	ENST00000548424.1	+	0	448																											ACCTGTTTTCCTTTGGCTCCT	0.517000													6	30					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1257673	1257673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:1257673G>A	ENST00000447027.1	+	24	3005	c.2947G>A	c.(2947-2949)Ggg>Agg	p.G983R	MUC5B_ENST00000529681.1_Missense_Mutation_p.G980R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	980	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGGCCGGGTGGGGACCCACC	0.647000													28	79					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474645	108474645	+	Missense_Mutation	SNP	G	G	T	rs148724960		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:108474645G>T	ENST00000295755.6	-	3	514	c.316C>A	c.(316-318)Cgc>Agc	p.R106S	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TGGCAGCAGCGGGCAGTGGTC	0.547000													16	120					3.41278e-10	3.53942e-10	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67058673	67058673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:67058673C>T	ENST00000295568.4	+	4	1723	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	KBTBD8_ENST00000460576.1_Missense_Mutation_p.S115F|KBTBD8_ENST00000417314.2_Missense_Mutation_p.S557F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	557										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAAAAAATTCCCTTTACCAA	0.433000													37	120					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30990517	30990517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:30990517C>T	ENST00000262519.8	+	14	4096	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1137	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCAGAACCACCTGCTGGGCCC	0.672000													6	9					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031812	104031812	+	Missense_Mutation	SNP	G	G	A	rs115145720	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:104031812G>A	ENST00000388887.2	+	8	932	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	243	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGTTTACGAAAAATCTGC	0.493000													43	122					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39201933	39201933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:39201933C>T	ENST00000351578.6	-	2	1320	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	FYB_ENST00000540520.1_Missense_Mutation_p.G387E|FYB_ENST00000515010.1_Missense_Mutation_p.G377E|FYB_ENST00000505428.1_Missense_Mutation_p.G377E|FYB_ENST00000512982.1_Missense_Mutation_p.G377E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	377	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTCACTGTTTCCAGAAGAGGT	0.433000													30	42					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490917	56490917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:56490917G>A	ENST00000291971.3	+	9	3105	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E993K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1012						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAGAAGAGAGAAGAGGTCAT	0.473000													27	105					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45012411	45012411	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:45012411T>C	ENST00000415811.2	+	5	408	c.353T>C	c.(352-354)aTa>aCa	p.I118T	GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.I118T|GOSR2_ENST00000393456.2_Missense_Mutation_p.I118T|GOSR2_ENST00000439730.2_Missense_Mutation_p.I118T|GOSR2_ENST00000225567.4_Missense_Mutation_p.I118T	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	118					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GACACCACCATACCAATGGAC	0.463000													26	103					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3331184	3331184	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:3331184G>A	ENST00000378398.3	+	11	2746	c.2664G>A	c.(2662-2664)cgG>cgA	p.R888R	PRDM16_ENST00000514189.1_Silent_p.R888R|PRDM16_ENST00000378391.2_Silent_p.R888R|PRDM16_ENST00000442529.2_Silent_p.R887R|PRDM16_ENST00000441472.2_Silent_p.R887R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.R888R|PRDM16_ENST00000511072.1_Silent_p.R889R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	888	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGTACCTGCGGCCGTCCCCGC	0.652000			T	EVI1	"""MDS, AML"""								28	43					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67390462	67390462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:67390462G>A	ENST00000371026.3	-	1	108	c.53C>T	c.(52-54)gCt>gTt	p.A18V	WDR78_ENST00000371023.3_Missense_Mutation_p.A18V|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Missense_Mutation_p.A18V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	18										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTACCCCCAAGCTCCTCCGTT	0.667000													67	196					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882128	149882128	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:149882128G>A	ENST00000369146.3	-	5	1573	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SV2A_ENST00000369145.1_Silent_p.F361F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	361					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCACCTCTAGGAAGAAACGGG	0.607000													3	19					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527359	109527359	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:109527359C>T	ENST00000409271.1	-	8	1142	c.699G>A	c.(697-699)ccG>ccA	p.P233P	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.P233P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGTTGACGGAGAGTCCA	0.637000													6	72					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179533712	179533712	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:179533712C>T	ENST00000467460.1	-	10	1350	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	PEX5L_ENST00000464614.1_Silent_p.G232G|PEX5L_ENST00000392649.3_Silent_p.G232G|PEX5L_ENST00000485199.1_Silent_p.G305G|PEX5L_ENST00000476138.1_Silent_p.G297G|PEX5L_ENST00000472994.1_Silent_p.G281G|PEX5L_ENST00000468741.1_Silent_p.G148G|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.G316G|PEX5L_ENST00000263962.8_Silent_p.G338G	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	340					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGGCAGATCCCCTTCCTTCA	0.488000													28	71					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382375	100382375	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:100382375C>T	ENST00000281806.2	-	5	920	c.606G>A	c.(604-606)acG>acA	p.T202T	MCHR2_ENST00000369212.1_Silent_p.T202T|MCHR2_ENST00000445970.1_Silent_p.T202T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	202						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T202T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGTTGTTATCGTCAAATAAA	0.333000													28	45					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66084499	66084499	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:66084499G>A	ENST00000404260.3	+	3	827	c.517_splice	c.e3-1	p.G173_splice	MAST4_ENST00000406374.1_Splice_Site_p.G173_splice|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406039.1_Splice_Site_p.G173_splice|MAST4_ENST00000403625.2_Splice_Site_p.G173_splice			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	173						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCCAACAGGGAGGTACCTTC	0.602000													11	51					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18754863	18754863	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:18754863C>T	ENST00000396170.1	-	11	2305	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	PTPN5_ENST00000396167.2_Silent_p.T347T|PTPN5_ENST00000396171.4_Silent_p.T379T|PTPN5_ENST00000358540.2_Silent_p.T379T|PTPN5_ENST00000477854.1_Silent_p.T183T|PTPN5_ENST00000396168.1_Silent_p.T355T|RP11-1081L13.4_ENST00000527285.1_RNA	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	379	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGTCGGCGACCGTGCTGACGA	0.617000													49	134					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616023	179616023	+	Silent	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:179616023A>G	ENST00000360870.5	-	46	11326	c.11104T>C	c.(11104-11106)Ttg>Ctg	p.L3702L	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9548	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACGTTGCAACTTCACTTTG	0.338000													29	92					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37159966	37159966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:37159966G>A	ENST00000340630.5	-	5	791	c.346C>T	c.(346-348)Cca>Tca	p.P116S	IFT27_ENST00000433985.2_Missense_Mutation_p.P117S|IFT27_ENST00000453009.2_Missense_Mutation_p.P76S	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	117					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCCGTACCTGGGAGAGAGATG	0.542000													14	36					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28719834	28719834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr18:28719834C>T	ENST00000257197.3	-	11	1801	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	DSC1_ENST00000257198.5_Missense_Mutation_p.E514K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	514	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAGTTATCTTCATCCCCTAAC	0.299000													8	34					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262804	39262804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:39262804C>T	ENST00000407418.3	-	5	772	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CBX6_ENST00000216083.6_Missense_Mutation_p.E199K			O95503	CBX6_HUMAN	chromobox homolog 6	217					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					AGGACGCTCTCGCTGAACTTC	0.716000													19	115					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497118	31497118	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:31497118G>A	ENST00000330498.3	+	4	391	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	124					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGGTCATCACGATGCCACAGT	0.622000													35	104					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41747575	41747575	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:41747575C>T	ENST00000352645.4	+	17	2216	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	ZC3H7B_ENST00000351589.4_Silent_p.H653H	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	669					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCATGACCCACGAAGACATCG	0.607000													6	36					0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41122009	41122009	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:41122009G>A	ENST00000373127.4	-	1	66	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TREML1_ENST00000426005.2_Silent_p.L6L|TREML1_ENST00000437044.2_Silent_p.L6L	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	6			L -> V (in a breast cancer sample; somatic mutation).		calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGCAGCAAGAGCAGGGTGA	0.577000													24	36					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447223	226447223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:226447223C>T	ENST00000272907.6	+	4	1503	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	364	Pro-rich.																CACGAAGCTTCCCGTGCTGGA	0.637000													13	21					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902585	4902585	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:4902585C>T	ENST00000381781.2	-	1	294	c.295_splice	c.e1+1	p.D99_splice		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	99					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCGTCCTTACCCTCCACTGGG	0.478000													37	68					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886712	119886712	+	Missense_Mutation	SNP	G	G	A	rs150101992		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:119886712G>A	ENST00000464295.1	-	10	2057	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	GPR156_ENST00000461057.1_Missense_Mutation_p.R534W|GPR156_ENST00000315843.3_Missense_Mutation_p.R538W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	538						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		ACCCGTGACCGCCGCTCTGGG	0.592000													52	301					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65553885	65553885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:65553885C>T	ENST00000450043.1	+	2	115	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	ASL_ENST00000304874.9_Silent_p.F270F|ASL_ENST00000380839.4_Silent_p.F244F|ASL_ENST00000395332.3_Silent_p.F270F|ASL_ENST00000395331.3_Silent_p.F270F																							AATTCAGCTTCGTGCAGCTCT	0.617000													6	60					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411399	43411399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr21:43411399G>A	ENST00000310826.5	-	3	2989	c.2806C>T	c.(2806-2808)Cca>Tca	p.P936S	ZBTB21_ENST00000398505.3_Missense_Mutation_p.P735S|ZBTB21_ENST00000398511.3_Missense_Mutation_p.P936S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P936S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAAATAAATGGTTTCACAGAG	0.502000													25	44					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73654311	73654311	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:73654311C>G	ENST00000055077.3	-	7	710	c.650G>C	c.(649-651)gGc>gCc	p.G217A	RFC2_ENST00000352131.3_Missense_Mutation_p.G183A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	217					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGCTTCTAGGCCGTCATCAGT	0.582000													5	51					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267060	3267060	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:3267060G>A	ENST00000602557.1	-	14	2187	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	CSMD1_ENST00000542608.1_Silent_p.F543F|CSMD1_ENST00000520002.1_Silent_p.F544F|CSMD1_ENST00000400186.3_Silent_p.F544F|CSMD1_ENST00000602723.1_Silent_p.F544F|CSMD1_ENST00000539096.1_Silent_p.F543F|CSMD1_ENST00000537824.1_Silent_p.F543F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	544	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCATGGAGGAAACTGCTGC	0.507000													3	14					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	771391	771391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:771391G>A	ENST00000526325.1	-	6	551	c.527C>T	c.(526-528)tCg>tTg	p.S176L	PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Silent_p.F162F|PDDC1_ENST00000319863.8_Silent_p.F162F|PDDC1_ENST00000442059.2_Silent_p.F112F|PDDC1_ENST00000524550.1_Silent_p.F126F			Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	0						extracellular region		p.F162F(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGGGCGAAGCCGGGGG	0.701000													19	17					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45655765	45655765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:45655765C>T	ENST00000317951.4	-	4	1929	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	NKPD1_ENST00000429338.1_Missense_Mutation_p.D422N|NKPD1_ENST00000438936.2_Missense_Mutation_p.D422N|NKPD1_ENST00000589776.1_Missense_Mutation_p.D422N	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCCCCAAAGTCCCCCTGCTGC	0.706000													11	9					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41081460	41081460	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:41081460C>T	ENST00000352632.3	+	36	7766	c.7680C>T	c.(7678-7680)agC>agT	p.S2560S	SPTBN4_ENST00000598249.1_Silent_p.S2560S|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.S1303S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2560					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGGGCCAGCGGGCGCAGGA	0.612000													18	27					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563692	13563692	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:13563692C>T	ENST00000360228.5	-	3	536	c.537G>A	c.(535-537)acG>acA	p.T179T	CACNA1A_ENST00000573710.2_Silent_p.T179T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	179					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCACTTACCCCGTTAGCACCA	0.522000													81	222					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701641	96701641	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:96701641C>T	ENST00000260682.6	+	2	207	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	65					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCCCTGTGTTCACTCTGTATT	0.438000													73	137					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258538	9258538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr18:9258538C>T	ENST00000383440.2	+	8	5461	c.5204C>T	c.(5203-5205)tCa>tTa	p.S1735L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1735L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1758L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1758						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACACTATTATCAGAAAAAGAC	0.368000													4	40					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27700471	27700471	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:27700471C>A	ENST00000260570.3	-	12	1279	c.1176G>T	c.(1174-1176)tgG>tgT	p.W392C	IFT172_ENST00000416524.2_Missense_Mutation_p.W371C|IFT172_ENST00000359466.6_Missense_Mutation_p.W392C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	392					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGATCCTTGCCAGGCTATCT	0.413000													15	61					0.000219431	0.000221013	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24524112	24524112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:24524112G>A	ENST00000376862.3	+	2	1012	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	127					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AGACAGCCTCGAGTACCCGGA	0.597000													77	184					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													25	22					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016573	70016573	+	Missense_Mutation	SNP	G	G	A	rs3748384	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:70016573G>A	ENST00000325845.7	-	22	2361	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R113C|PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TCCTGTCTACGGCGGTTGGAC	0.483000													7	115					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119510247	119510247	+	Missense_Mutation	SNP	C	C	T	rs149447498		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:119510247C>T	ENST00000218008.3	+	6	829	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	ATP1B4_ENST00000539306.1_Missense_Mutation_p.R215C|ATP1B4_ENST00000361319.3_Missense_Mutation_p.R254C	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	258					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R254C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTAGGCTTTCGTCCTGAGCT	0.363000													24	113					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748865	152748865	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:152748865C>A	ENST00000334371.2	+	1	18	c.18C>A	c.(16-18)agC>agA	p.S6R		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	6					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCAGAGCCAGCAGCAGT	0.617000													19	115					3.8784e-16	4.18538e-16	1	1	0
FPR3	2359	broad.mit.edu	37	19	52327436	52327436	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:52327436G>A	ENST00000339223.4	+	2	614	c.435G>A	c.(433-435)gtG>gtA	p.V145V	FPR3_ENST00000595991.1_Silent_p.V145V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	145					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCAAGAGGGTGATGACGGGAC	0.478000													33	101					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482405	156482405	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:156482405G>A	ENST00000339252.3	-	2	718	c.186C>T	c.(184-186)gtC>gtT	p.V62V	HAVCR1_ENST00000523175.1_Silent_p.V62V|HAVCR1_ENST00000425854.1_Silent_p.V62V|HAVCR1_ENST00000544197.1_Silent_p.V62V|HAVCR1_ENST00000522693.1_Silent_p.V62V	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	62	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTGGTCCAGACAATGCCAT	0.478000													13	65					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488818	19488818	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:19488818C>A	ENST00000396229.2	+	13	2896	c.2147C>A	c.(2146-2148)aCc>aAc	p.T716N	TMC5_ENST00000564959.1_Missense_Mutation_p.T399N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.T664N|TMC5_ENST00000561503.1_Missense_Mutation_p.T357N|TMC5_ENST00000542583.2_Missense_Mutation_p.T716N|TMC5_ENST00000219821.5_Missense_Mutation_p.T470N|TMC5_ENST00000381414.4_Missense_Mutation_p.T716N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	716						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCTCAACACCGTGGCCCTG	0.408000													22	174					1.74197e-06	1.7737e-06	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25308636	25308636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:25308636G>A	ENST00000400358.4	+	22	2902	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E1004K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1004	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTGCTTCACGGAGCTCATGAA	0.527000													4	26					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365840	13365840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:13365840C>T	ENST00000379287.3	-	2	972	c.308G>A	c.(307-309)cGc>cAc	p.R103H	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	103						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGAGGTCATGCGGAAAGCGTC	0.647000													50	122					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362564	228362564	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:228362564G>A	ENST00000366711.3	+	2	515	c.513G>A	c.(511-513)ggG>ggA	p.G171G	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	171					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCCTGCGGGGCTGCATCGC	0.697000													16	15					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615785	140615785	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140615785C>T	ENST00000526308.1	+	0	1848					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGTGCTGGACGCCAACGACA	0.706000													15	99					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915713	227915713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:227915713G>A	ENST00000396625.3	-	33	3337	c.3130C>T	c.(3130-3132)Cca>Tca	p.P1044S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1044S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1044	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAAGTCCTGGAAAACCAATG	0.522000													32	96					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617208	64617208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:64617208C>T	ENST00000498707.1	-	16	2654	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R743Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	771	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGCTGGAATTCGGACCACAGT	0.423000													67	135					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281478	125281478	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:125281478G>T	ENST00000340750.1	+	1	59	c.59G>T	c.(58-60)tGg>tTg	p.W20L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTCCCCATCTGGCCAGAGCAG	0.542000													25	140					1.77063e-15	1.90343e-15	1	1	0
GPR98	84059	broad.mit.edu	37	5	90136683	90136683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:90136683C>T	ENST00000405460.2	+	78	16996	c.16900C>T	c.(16900-16902)Cag>Tag	p.Q5634*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.Q1295*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5634					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			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)		GCTTGCAGATCAGCTACATCA	0.468000													23	62					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104825616	104825616	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:104825616C>T	ENST00000444739.2	-	2	1030	c.120G>A	c.(118-120)gaG>gaA	p.E40E	CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	40	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCTTTTTTTCCTCTTCCTTCC	0.413000													33	69					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306718	119306718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:119306718C>T	ENST00000478399.1	+	4	2472	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.S356F|ADPRH_ENST00000357003.3_Missense_Mutation_p.S356F|ADPRH_ENST00000478927.1_Missense_Mutation_p.S356F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	356					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ACTGTAATTTCCCTTTAGGGA	0.398000													45	123					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908875	151908875	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:151908875G>A	ENST00000370291.2	+	4	394	c.114G>A	c.(112-114)agG>agA	p.R38R	CSAG1_ENST00000370287.3_Silent_p.R38R|CSAG1_ENST00000452779.2_Silent_p.R38R			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572000													173	331					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38848949	38848949	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:38848949C>G	ENST00000409235.3	+	12	1462	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I409M|CATSPERG_ENST00000215069.4_Missense_Mutation_p.I442M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	449					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTACCACATCCCAGAATTCA	0.567000													19	119					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745050	73745050	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:73745050C>T	ENST00000200181.3	+	27	3427	c.3240C>T	c.(3238-3240)caC>caT	p.H1080H	ITGB4_ENST00000339591.3_Silent_p.H1080H|ITGB4_ENST00000579662.1_Silent_p.H1080H|ITGB4_ENST00000449880.2_Silent_p.H1080H|ITGB4_ENST00000450894.3_Silent_p.H1080H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1080	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGTTTCCACGTCCAGCTCA	0.647000													12	38					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698846	17698846	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:17698846C>T	ENST00000399080.2	-	1	860	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	279										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)					TCTTTTTCTTCGCTATTTCCT	0.358000													28	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8966725	8966725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:8966725C>T	ENST00000397910.4	-	81	43431	c.43228G>A	c.(43228-43230)Gaa>Aaa	p.E14410K	MUC16_ENST00000380951.5_Missense_Mutation_p.E1051K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14508	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CGCAGAAATTCCTCATAGATG	0.572000													4	11					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137811342	137811342	+	Silent	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:137811342T>C	ENST00000327532.2	-	5	1115	c.753A>G	c.(751-753)gaA>gaG	p.E251E	DZIP1L_ENST00000469243.1_Silent_p.E251E	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	251						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ATTTATCAAATTCTTTCTTAG	0.318000													47	228					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195097	18195097	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:18195097C>T	ENST00000314254.3	+	1	714	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	98						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCAAAATCCTCGTTTCTGTGA	0.527000													48	132					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87563410	87563410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:87563410G>A	ENST00000376214.1	+	18	2736	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	NTRK2_ENST00000376213.1_Missense_Mutation_p.D584N|NTRK2_ENST00000323115.4_Missense_Mutation_p.D584N|NTRK2_ENST00000277120.3_Missense_Mutation_p.D600N	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	584	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGCACGCAAGGACTTCCACCG	0.537000										TSP Lung(25;0.17)			23	37					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172162	78172162	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:78172162A>G	ENST00000369947.2	-	1	1328	c.959T>C	c.(958-960)tTg>tCg	p.L320S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	320					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AAAGGCTCCCAAAATGATCCC	0.512000													33	174					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271760	1271760	+	Missense_Mutation	SNP	C	C	T	rs140108185		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:1271760C>T	ENST00000378888.5	-	15	2134	c.1850G>A	c.(1849-1851)cGa>cAa	p.R617Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R592Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	617					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGACGCTCTCGCCAGCTGCT	0.761000													7	31					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453471	32453471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:32453471G>A	ENST00000341377.5	+	2	743	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	NRG1_ENST00000519301.1_Missense_Mutation_p.E55K|NRG1_ENST00000356819.4_Missense_Mutation_p.E76K|NRG1_ENST00000287845.5_Missense_Mutation_p.E76K|NRG1_ENST00000520407.1_Missense_Mutation_p.E291K|NRG1_ENST00000521670.1_Missense_Mutation_p.E76K|NRG1_ENST00000287842.3_Missense_Mutation_p.E76K|NRG1_ENST00000405005.2_Missense_Mutation_p.E76K|NRG1_ENST00000338921.4_Missense_Mutation_p.E76K|NRG1_ENST00000523079.1_Missense_Mutation_p.E76K|NRG1_ENST00000287840.5_Missense_Mutation_p.E76K			Q02297	NRG1_HUMAN	neuregulin 1	76	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAATGGGAATGAATTGAATCG	0.393000													30	109					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101882853	101882853	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:101882853C>T	ENST00000360264.3	+	23	3929	c.3909C>T	c.(3907-3909)ttC>ttT	p.F1303F	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.F1190F|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.F1270F|CUX1_ENST00000550008.2_Silent_p.F1236F|CUX1_ENST00000292535.7_Silent_p.F1292F|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.F1134F|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1292					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAACTGGTTCCACAACTACA	0.607000													66	126					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091444	36091444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:36091444G>A	ENST00000378660.1	+	4	567	c.379G>A	c.(379-381)Gga>Aga	p.G127R	CHDC2_ENST00000313548.4_Missense_Mutation_p.G127R					calponin homology domain containing 2									p.G127*(2)|p.G127>?(1)									CTGGCCTGAAGGACCCCATTC	0.388000													39	128					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821494	47821494	+	Missense_Mutation	SNP	G	G	T	rs147398973		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr21:47821494G>T	ENST00000359568.5	+	26	4928	c.4821G>T	c.(4819-4821)atG>atT	p.M1607I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1607					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AACAGCAGATGAGTAGCTTGC	0.448000													30	87					1.06801e-11	1.12222e-11	1	1	0
IL20RB	53833	broad.mit.edu	37	3	136729035	136729035	+	Silent	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:136729035T>C	ENST00000329582.4	+	7	1155	c.906T>C	c.(904-906)ccT>ccC	p.P302P	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	302						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGATGTCTCCTGAGGAACTCC	0.498000													21	94					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294077	219294077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:219294077G>A	ENST00000248444.5	+	7	725	c.637G>A	c.(637-639)Gga>Aga	p.G213R	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.G213R	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	213	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGGTGGACGGAGAGAATGA	0.642000													41	97					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120394693	120394693	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:120394693C>T	ENST00000283871.5	-	2	492	c.33G>A	c.(31-33)ggG>ggA	p.G11G	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	11					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AACACTCATTCCCAAATCCAG	0.428000													33	125					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141200090	141200090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:141200090G>A	ENST00000389484.3	-	66	11368	c.10397C>T	c.(10396-10398)tCa>tTa	p.S3466L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3466	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GGCCTCGTCTGATGCATCTGC	0.463000										TSP Lung(27;0.18)			25	101					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5043747	5043747	+	Missense_Mutation	SNP	C	C	G	rs142672563	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:5043747C>G	ENST00000380753.4	-	2	398	c.211G>C	c.(211-213)Gat>Cat	p.D71H	AKR1C2_ENST00000407674.1_Missense_Mutation_p.D71H|AKR1C2_ENST00000421196.3_Missense_Mutation_p.D71H|AKR1C2_ENST00000455190.1_Missense_Mutation_p.D71H	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	71					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	ACACTGCCATCTGCAATCTTG	0.443000													10	103					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56358064	56358064	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:56358064C>A	ENST00000340482.3	-	1	232	c.56G>T	c.(55-57)tGg>tTg	p.W19L	MPO_ENST00000225275.3_Missense_Mutation_p.W19L			P05164	PERM_HUMAN	myeloperoxidase	19					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACCCCCAGCCCAGCAAGGTCC	0.602000													16	71					1.67942e-08	1.7289e-08	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751504	19751504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr13:19751504C>T	ENST00000400113.3	-	4	723	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	207					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TAGATGGCTTCATTGTCGACC	0.582000													121	127					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407442	1407442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:1407442C>T	ENST00000381524.3	+	5	436	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CSF2RA_ENST00000381529.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R84C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R84C			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	84						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R84C(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGCACATTTCGTGAAATTTG	0.428000													62	400					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122251	46122251	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:46122251C>T	ENST00000374366.3	-	8	1263	c.798G>A	c.(796-798)caG>caA	p.Q266Q	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Silent_p.Q340Q|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	340							zinc ion binding										AATGGGGTATCTGAGGAGGTA	0.418000													27	41					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582051	84582051	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:84582051C>T	ENST00000286744.5	+	16	2132	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	ADAMTSL3_ENST00000567476.1_Silent_p.I636I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	636						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTAGACATCCCTCTCCCTG	0.592000													17	44					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927623	38927623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:38927623G>A	ENST00000450244.1	-	16	3140	c.2942C>T	c.(2941-2943)cCc>cTc	p.P981L	SCN11A_ENST00000444237.2_Missense_Mutation_p.P981L|SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Missense_Mutation_p.P981L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	981					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TACCTTTCGGGGATCCTGTAT	0.448000													31	69					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3045433	3045433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:3045433C>T	ENST00000602557.1	-	37	6136	c.5581G>A	c.(5581-5583)Gat>Aat	p.D1861N	CSMD1_ENST00000542608.1_Missense_Mutation_p.D1860N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Missense_Mutation_p.D1861N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1861N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1861N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1860N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1860N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1861	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCCACCATCGTGGATCTCA	0.448000													11	30					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926842	83926842	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:83926842C>T	ENST00000345382.2	-	5	2422	c.2337G>A	c.(2335-2337)ttG>ttA	p.L779L	BNC1_ENST00000569704.1_Silent_p.L772L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	779					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTTCCTGGCTCAATGCTTTTT	0.438000													27	80					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227365	42227365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:42227365G>A	ENST00000541110.1	-	9	2609	c.2041C>T	c.(2041-2043)Ctc>Ttc	p.L681F	TRERF1_ENST00000372917.4_Missense_Mutation_p.L578F|TRERF1_ENST00000372922.4_Missense_Mutation_p.L661F|TRERF1_ENST00000354325.2_Missense_Mutation_p.L578F|TRERF1_ENST00000340840.2_Missense_Mutation_p.L578F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	661	Interacts with CREBBP.|Pro-rich.				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			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)			GGGATGAAGAGAGGTTCCGGC	0.657000													29	83					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923486	117923486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:117923486C>T	ENST00000425217.1	-	15	2197	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	KSR2_ENST00000339824.5_Missense_Mutation_p.G744R|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	744	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGTCCGTCCCTTACAGAGG	0.438000													27	63					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038952	17038952	+	Silent	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:17038952G>T	ENST00000443236.1	-	25	3409	c.3378C>A	c.(3376-3378)acC>acA	p.T1126T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1079						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCCCAGCCGGTGGAAAAGC	0.602000													27	67					2.12542e-12	2.23749e-12	1	1	0
RWDD4	201965	broad.mit.edu	37	4	184572394	184572394	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:184572394C>A	ENST00000326397.5	-	3	464	c.192G>T	c.(190-192)atG>atT	p.M64I	RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Missense_Mutation_p.M64I|RWDD4_ENST00000512740.1_Start_Codon_SNP_p.M1I	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	64	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						AAAAAGCGTTCATAGATAGAA	0.373000													25	79					1.75199e-13	1.85485e-13	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77666722	77666722	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:77666722C>T	ENST00000461745.1	+	22	4252	c.3352C>T	c.(3352-3354)Ctg>Ttg	p.L1118L	ROBO2_ENST00000332191.8_Silent_p.L1118L|ROBO2_ENST00000487694.3_Silent_p.L1134L|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1118					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACACCAAGGTCTGGAAGATGA	0.453000													17	166					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297489	30297489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:30297489C>T	ENST00000376659.5	+	3	993	c.395C>T	c.(394-396)tCc>tTc	p.S132F	TRIM39_ENST00000540416.1_Missense_Mutation_p.S132F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S132F|TRIM39_ENST00000396551.3_Missense_Mutation_p.S132F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S132F|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.S44F|TRIM39_ENST00000396547.1_Missense_Mutation_p.S132F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TGTGCAATTTCCCACACCCAC	0.557000													15	70					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126143878	126143878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:126143878G>A	ENST00000373624.2	-	22	3064	c.2863C>T	c.(2863-2865)Cct>Tct	p.P955S	DENND1A_ENST00000394219.3_Missense_Mutation_p.P966S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.P740S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	955	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGGCCTTGAGGGGGCCTGGGA	0.642000													16	32					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241015	32241015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:32241015C>T	ENST00000400246.1	+	30	2955	c.2813C>T	c.(2812-2814)tCc>tTc	p.S938F	DEPDC5_ENST00000382112.3_Missense_Mutation_p.S929F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S938F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S860F|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S938F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S929F|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S860F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S929F			O75140	DEPD5_HUMAN	DEP domain containing 5	929					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAATTGAGTCCCTGAAGTTC	0.557000													13	85					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130289768	130289768	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:130289768G>A	ENST00000358511.6	+	6	2539	c.2508G>A	c.(2506-2508)gtG>gtA	p.V836V	COL6A6_ENST00000453409.2_Silent_p.V836V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	836	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGGCTTAGTGAAAAAAGCTG	0.413000													25	44					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461194	35461194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:35461194G>A	ENST00000378880.2	-	8	1526	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	PAMR1_ENST00000378878.3_Missense_Mutation_p.P250S|PAMR1_ENST00000532848.1_Missense_Mutation_p.P321S|PAMR1_ENST00000278360.3_Missense_Mutation_p.P378S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	361					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCTGCATCGGAAGAACTCTC	0.463000													45	125					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430382	107430382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:107430382G>A	ENST00000334504.7	-	23	2128	c.1895C>T	c.(1894-1896)cCt>cTt	p.P632L	COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P633L|COL4A6_ENST00000394872.2_Missense_Mutation_p.P633L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	633	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTATCTCCAGGAAGCCCACG	0.532000									Alport syndrome with Diffuse Leiomyomatosis				210	585					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869869	151869869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:151869869G>A	ENST00000329342.5	+	3	784	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	187	MAGE.						protein binding	p.D187N(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCCTACGATGGCCTGCT	0.557000													69	230					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101595206	101595206	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:101595206C>T	ENST00000284395.5	+	28	4501	c.4101C>T	c.(4099-4101)atC>atT	p.I1367I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.I1370I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1370	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438000													33	113					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921633	24921633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:24921633C>T	ENST00000329468.2	+	1	1093	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGCCCTGGGCCTCTGGAGGG	0.602000													18	44					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836836	47836836	+	Missense_Mutation	SNP	C	C	T	rs144331049		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:47836836C>T	ENST00000396965.1	-	7	1000	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	ZNF182_ENST00000376943.3_Missense_Mutation_p.R198Q|ZNF182_ENST00000305127.6_Missense_Mutation_p.R217Q	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GCCTTTCTTTCGCCTAAGACC	0.393000													35	83					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068079	73068079	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:73068079G>A	ENST00000429829.1	-	0	4509					NR_001564.2																						GGAATATGAGGGGATGAGACC	0.423000													11	38					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654771	247654771	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:247654771C>T	ENST00000522351.1	+	0	402							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTGCGTCCTCCTGGTTGTCA	0.602000													41	98					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918972	21918972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:21918972C>T	ENST00000240662.2	-	3	1305	c.960G>A	c.(958-960)tgG>tgA	p.W320*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	320						voltage-gated potassium channel complex		p.W320*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AGCGGTGGCCCCATTGGATCT	0.478000													38	71					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681522	40681522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:40681522G>A	ENST00000302472.3	+	2	1451	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	143					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCTCTTTGCAGTCTATGCGTC	0.587000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	275					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42965964	42965964	+	Missense_Mutation	SNP	G	G	A	rs138012908		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:42965964G>A	ENST00000217043.2	+	1	339	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	56						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCGGAAGCGCCACATCTCT	0.592000													39	86					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64716244	64716244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:64716244C>T	ENST00000261884.3	+	10	1433	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	458					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAGGGCAGATCCTGGTACACC	0.418000													15	51					0	0	1	0	0
PGRMC1	10857	broad.mit.edu	37	X	118377142	118377142	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:118377142G>A	ENST00000217971.7	+	3	624	c.513G>A	c.(511-513)ctG>ctA	p.L171L	PGRMC1_ENST00000535419.1_Silent_p.L119L	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	171	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						GCAAACTGCTGAAGGAGGGGG	0.408000													20	116					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201061175	201061175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:201061175C>T	ENST00000362061.3	-	4	692	c.466G>A	c.(466-468)Gga>Aga	p.G156R	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G156R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	156					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGCCGGCTCCTTTGCTGCTC	0.602000													17	97					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289468	125289468	+	Silent	SNP	G	G	A	rs142517599		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:125289468G>A	ENST00000304880.2	-	1	104	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGTCAAGGTGACAAGATACA	0.483000													12	71					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720126	720126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:720126C>T	ENST00000315082.4	+	6	394	c.280C>T	c.(280-282)Cga>Tga	p.R94*	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	94	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TTTTCAGATTCGAACTAAGTG	0.647000													10	49					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5708726	5708726	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:5708726C>T	ENST00000327087.8	-	21	2228	c.2157G>A	c.(2155-2157)tcG>tcA	p.S719S	ANO2_ENST00000356134.5_Silent_p.S720S|ANO2_ENST00000546188.1_Silent_p.S720S			Q9NQ90	ANO2_HUMAN	anoctamin 2	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGATGTTTCGAATGGGCAG	0.453000													42	100					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510960	169510960	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:169510960G>T	ENST00000367796.3	-	13	3584	c.3383C>A	c.(3382-3384)cCa>cAa	p.P1128Q	F5_ENST00000367797.3_Missense_Mutation_p.P1123Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1123	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGTTCCTCTGGGGGCACTGT	0.478000													26	130					3.28513e-13	3.46488e-13	1	1	0
DVL2	1856	broad.mit.edu	37	17	7132546	7132546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:7132546G>A	ENST00000005340.5	-	8	1147	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	DVL2_ENST00000575458.1_Missense_Mutation_p.R283W|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	289	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGTCTCCCCGCTCATTGCTC	0.592000													28	92					0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14626759	14626759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:14626759G>A	ENST00000254322.2	-	3	1086	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	DNAJB1_ENST00000396969.4_Missense_Mutation_p.P239L	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	339					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TAGCTATATTGGAAGAACCTG	0.493000													6	79					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323000													21	132					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930502	121930502	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:121930502C>T	ENST00000265922.3	-	8	1607	c.1145_splice	c.e8-1	p.R382_splice	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		382					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGAATTGTCCTGGGAGATA	0.493000													3	14					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175879	207175879	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:207175879G>A	ENST00000374423.3	+	5	7013	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2209							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGCTTCAGAGAAACAGTCAA	0.363000													13	33					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567432	102567432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:102567432C>T	ENST00000260229.4	-	5	845	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	252					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCATTGATATCATCCTGAGAA	0.388000													22	31					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251972	49251972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:49251972G>A	ENST00000309739.5	-	5	636	c.506C>T	c.(505-507)gCt>gTt	p.A169V		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	169					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TGAGGTGAAAGCTGAGCCTTC	0.552000													12	77					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113166	160113166	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:160113166C>G	ENST00000327245.5	-	6	1236	c.390G>C	c.(388-390)atG>atC	p.M130I	CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	130					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCCTTGATCATGATGACGA	0.428000													6	69					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39646009	39646009	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:39646009G>A	ENST00000328119.6	-	1	107	c.108C>T	c.(106-108)tcC>tcT	p.S36S	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	36	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGACCCTGCAGGAGCCCACAG	0.632000													13	81					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172607420	172607420	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:172607420C>T	ENST00000351008.3	-	11	1833	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	550					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.L550L(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGCAGTTCTCAGTTTTTTAG	0.363000													40	111					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820192	151820192	+	Nonsense_Mutation	SNP	C	C	T	rs142261040		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:151820192C>T	ENST00000370306.2	+	8	1125	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	369						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.R369*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAGACCCCGAAGAGTCAT	0.517000													21	157					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358667	53358667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:53358667C>T	ENST00000566029.1	+	39	8715	c.8506C>T	c.(8506-8508)Cag>Tag	p.Q2836*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q2836*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q2837*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Q2852*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2852					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATTAAAGATCAGGAAGACAA	0.393000													8	21					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123630865	123630865	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:123630865C>T	ENST00000422452.2	-	20	3759		c.e20+1		TENM1_ENST00000371130.3_Splice_Site|TENM1_ENST00000461429.1_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGAAGACTTACCTTAATTCCA	0.378000													17	114					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71036427	71036427	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:71036427G>A	ENST00000272367.2	-	7	1822	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	582	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCCAGGGACAGGGAGGGGTGT	0.547000													12	44					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189545	38189545	+	Missense_Mutation	SNP	C	C	T	rs149751145	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:38189545C>T	ENST00000355202.4	-	5	2082	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R495H	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATGAACTCTGCGATGTATAGT	0.393000													45	160					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138870379	138870379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:138870379C>T	ENST00000370557.1	-	14	2519	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	ATP11C_ENST00000327569.3_Missense_Mutation_p.E501K|ATP11C_ENST00000359686.2_Missense_Mutation_p.E501K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.E501K|ATP11C_ENST00000361648.2_Missense_Mutation_p.E501K			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	501					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTATTTCATCTGGTGAA	0.353000													45	115					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522716	48522716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:48522716C>T	ENST00000422556.1	-	3	1352	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SPATA2_ENST00000543716.1_Missense_Mutation_p.V198M|SPATA2_ENST00000289431.5_Missense_Mutation_p.V335M	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	335					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TACAGATCCACGTCATCCTGA	0.657000													14	113					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069682	9069682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:9069682C>T	ENST00000397910.4	-	3	17967	c.17764G>A	c.(17764-17766)Gaa>Aaa	p.E5922K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5924	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTGGTTTCTTCCACAGAGGGA	0.493000													13	88					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947231	68947231	+	Silent	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:68947231A>T	ENST00000456315.2	-	9	1941	c.1827T>A	c.(1825-1827)ctT>ctA	p.L609L	DEPDC1_ENST00000370966.5_Silent_p.L325L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	609	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTGGTGGGGGAAGTAACAAAC	0.403000													4	38					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5010961	5010961	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:5010961C>T	ENST00000380390.1	+	3	399	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Silent_p.F61F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	61					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCAACAATTCCATCGGAATG	0.522000													13	31					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054255	95054255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:95054255G>A	ENST00000329597.7	+	3	766	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SERPINA5_ENST00000554866.1_Missense_Mutation_p.D186N|SERPINA5_ENST00000554276.1_Missense_Mutation_p.D186N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D186N	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	186					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAGATTGTGGACTTGCTTAA	0.478000													25	177					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80762708	80762708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:80762708C>T	ENST00000533983.1	+	5	650	c.311C>T	c.(310-312)tCc>tTc	p.S104F	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.S104F|ARNT2_ENST00000303329.4_Missense_Mutation_p.S115F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	115	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGAAGTCCATGAGGGGT	0.587000													33	104					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005457	74005457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:74005457G>A	ENST00000358602.4	-	15	2992	c.2876C>T	c.(2875-2877)cCt>cTt	p.P959L	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P846L|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	959	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAAAGCTTGAGGCATCGCCAG	0.532000													16	70					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148386	70148386	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:70148386G>A	ENST00000374299.3	-	4	771	c.627C>T	c.(625-627)ttC>ttT	p.F209F	SLC7A3_ENST00000298085.4_Silent_p.F209F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	209					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.F209F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCCCTTAACGAAGCCAGAGA	0.512000													11	20					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755762	21755762	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:21755762A>T	ENST00000382254.1	-	14	2909	c.1823T>A	c.(1822-1824)cTa>cAa	p.L608Q	CDH12_ENST00000522262.1_Missense_Mutation_p.L568Q|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L608Q	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	608	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TCCTACAGGTAGAAAAATTGC	0.403000										HNSCC(59;0.17)			9	105					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526028	176526028	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:176526028G>T	ENST00000367662.3	+	2	1734	c.570G>T	c.(568-570)agG>agT	p.R190S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R190S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	190					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAAAGGAGGGGCTGGGCCA	0.587000													28	239					6.00712e-18	6.53304e-18	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553131	140553131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140553131G>A	ENST00000231137.3	+	1	889	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		239	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGACAACGCCCCTGATTT	0.547000													18	71					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31600050	31600050	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:31600050G>A	ENST00000379416.3	-	14	1344	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	432					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGTTACCTTGGCAATGTCAT	0.507000													12	100					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:118267125G>A	ENST00000252108.3	+	20	3302	c.3171G>A	c.(3169-3171)gaG>gaA	p.E1057E	UBE4A_ENST00000545354.1_Silent_p.E529E|UBE4A_ENST00000431736.2_Silent_p.E1064E	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1057					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.E1064D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438000													28	46					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130856048	130856048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:130856048C>T	ENST00000245255.3	+	21	2763	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	831	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.P831A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTTCCTGCTCCTTGCCAGTA	0.438000													52	128					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89250365	89250365	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:89250365G>A	ENST00000370521.3	+	7	1388	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	PKN2_ENST00000370513.5_Silent_p.E343E|PKN2_ENST00000370505.3_Silent_p.E186E|PKN2_ENST00000544045.1_Silent_p.E17E|PKN2_ENST00000316005.7_Silent_p.E343E	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	343	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATATCCTAGAGAATGTCCCTG	0.413000													7	57					0	0	1	0	0
UBL3	5412	broad.mit.edu	37	13	30346297	30346297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr13:30346297G>A	ENST00000380680.4	-	3	1320	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	59	Ubiquitin-like.					intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TAAATAAGTCGTAGAATATTT	0.373000													88	50					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414377	121414377	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:121414377G>A	ENST00000260197.7	+	13	1935	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	602					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTTGGCTCGAACAAAGAGA	0.507000													45	106					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005262	74005262	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:74005262G>T	ENST00000301607.3	-	22	4277	c.4024C>A	c.(4024-4026)Cag>Aag	p.Q1342K	EVPL_ENST00000586740.1_Missense_Mutation_p.Q1364K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1342	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGCCTCTTCTGGGCCGCCTCC	0.677000													22	162					1.13719e-10	1.18599e-10	1	1	0
PAH	5053	broad.mit.edu	37	12	103234229	103234229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:103234229C>T	ENST00000553106.1	-	12	1736	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PAH_ENST00000307000.2_Missense_Mutation_p.E417K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	422					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCCAAGACCTCAATCCTTTGG	0.473000													16	106					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727063	40727063	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:40727063G>T	ENST00000373198.3	-	28	4145	c.3910C>A	c.(3910-3912)Cag>Aag	p.Q1304K	PTPRT_ENST00000373187.1_Missense_Mutation_p.Q1282K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1291K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1281K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1285K|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1292K|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1272K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1282	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCCTACCTGGGCAGTGTCC	0.602000													21	117					6.44725e-10	6.6741e-10	1	1	0
ZNF275	10838	broad.mit.edu	37	X	152612986	152612986	+	Silent	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:152612986C>A	ENST00000421401.3	+	4	1020	c.843C>A	c.(841-843)gcC>gcA	p.A281A	ZNF275_ENST00000440091.1_Silent_p.A311A|ZNF275_ENST00000370249.2_Silent_p.A228A|ZNF275_ENST00000370251.2_Silent_p.A281A	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	281						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGCTGGCCGAGCACCAGC	0.657000													6	47					2.0095e-06	2.04238e-06	1	1	0
CDH10	1008	broad.mit.edu	37	5	24488070	24488070	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:24488070A>T	ENST00000264463.4	-	12	2576	c.2069T>A	c.(2068-2070)aTt>aAt	p.I690N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGGAATAATATCTCGCCG	0.473000										HNSCC(23;0.051)			33	105					0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149795	40149795	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:40149795G>A	ENST00000372844.3	-	3	583	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	64	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTGCTGCGCGAACTTGGAGG	0.687000													16	41					0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106397462	106397462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:106397462G>A	ENST00000372466.4	-	5	460	c.209C>T	c.(208-210)cCt>cTt	p.P70L	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	70					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						TGTCATCACAGGAGTTGCTAC	0.388000													22	84					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36064402	36064402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:36064402G>A	ENST00000282507.3	-	2	246	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	49						integral to membrane	glucuronosyltransferase activity			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)			TTATGACCGTGATCTTGAAGA	0.413000													58	92					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463616	25463616	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:25463616C>T	ENST00000424208.1	+	0	2899				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GCTTGCTTTTCCTGGGCCAGT	0.582000													14	28					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975973	32975973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:32975973G>A	ENST00000229829.5	-	2	223	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.H20Y	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	50	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCAAATTCATGGGTGAACTGG	0.567000													24	22					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969245	47969245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:47969245G>A	ENST00000236877.6	-	2	811	c.416C>T	c.(415-417)tCc>tTc	p.S139F	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	139					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCAGGTGCGGAGGAGCCCAG	0.627000													13	56					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720995	179720995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:179720995C>T	ENST00000420890.2	-	18	2971	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E377K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	377							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATTTTTTCAGCATACATA	0.294000													34	97					0	0	1	0	0
DPH6	89978	broad.mit.edu	37	15	35674101	35674101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:35674101C>T	ENST00000256538.4	-	7	610	c.584G>A	c.(583-585)gGa>gAa	p.G195E	DPH6_ENST00000560386.1_5'UTR	NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		AACATGTACTCCATACTTCTT	0.313000													29	62					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47842375	47842375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:47842375C>T	ENST00000396965.1	-	6	613	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ZNF182_ENST00000376943.3_Missense_Mutation_p.G69E|ZNF182_ENST00000305127.6_Missense_Mutation_p.G88E	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGGGATTTTTCCTTCTGCCGG	0.483000													33	84					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361858	122361858	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:122361858C>T	ENST00000288912.4	+	3	1563	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	WDR66_ENST00000397454.2_Silent_p.L237L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	237							calcium ion binding	p.L237V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGACATTCTGTTTCAAAA	0.483000													44	77					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158223	139158223	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:139158223G>A	ENST00000395297.1	-	15	3689	c.3519C>T	c.(3517-3519)ttC>ttT	p.F1173F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1173										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACATTAGGAAGTCCAGTT	0.438000										HNSCC(54;0.14)			23	77					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113783752	113783752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:113783752G>A	ENST00000259213.4	-	5	426	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	107					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						atgcatgtgtgaattccaact	0.463000													24	52					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91195972	91195972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:91195972G>A	ENST00000341233.4	-	7	1433	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.P378L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	348						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ACAAGAGAAAGGCACGAGCAG	0.493000													16	30					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162394	130162394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:130162394C>T	ENST00000265379.6	+	36	7056	c.6562C>T	c.(6562-6564)Caa>Taa	p.Q2188*	COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2188*			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2188	Nonhelical region.		Q -> R (in dbSNP:rs9883988).		axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGAGAATATTCAAAATGATGG	0.378000													19	50					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244379	100244379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:100244379G>A	ENST00000160382.5	-	11	1118	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	338					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCACCGGGCGAATATCAATG	0.667000													34	50					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315708	30315708	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:30315708G>A	ENST00000375377.1	-	3	3470	c.3369C>T	c.(3367-3369)tcC>tcT	p.S1123S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1123										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCCTGGGGGGACTCTGGGG	0.642000													53	85					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11169377	11169377	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:11169377T>A	ENST00000361445.4	-	56	7574	c.7498A>T	c.(7498-7500)Att>Ttt	p.I2500F	MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2500	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTGTTAATAATCTGGATAGCT	0.408000													9	152					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74326449	74326449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:74326449C>T	ENST00000409262.3	+	8	2909	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	970							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCAAGATTCCCGAGGATGAG	0.602000													13	24					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120582	47120582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:47120582C>T	ENST00000298283.3	-	1	446	c.358G>A	c.(358-360)Gga>Aga	p.G120R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	120					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGGGGTTTTCCAAAGGCACCT	0.557000													18	72					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952147	141952147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:141952147C>T	ENST00000552471.1	-	5	939	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G207E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGACAGGATTCCTTGAAGCAT	0.398000													14	78					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139620522	139620522	+	RNA	SNP	G	G	A	rs61738425	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:139620522G>A	ENST00000414282.1	-	0	451				SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA																							TTCCAAAAGCGAAAATCCAAA	0.498000													6	41					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55857517	55857517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:55857517C>T	ENST00000422046.2	-	4	762	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.E161K|CES1_ENST00000360526.3_Missense_Mutation_p.E162K			P23141	EST1_HUMAN	carboxylesterase 1	161					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ACCACGTTTTCATGGGCAGCA	0.567000													19	95					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101775495	101775495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:101775495G>A	ENST00000254190.3	-	2	1083	c.608C>T	c.(607-609)aCc>aTc	p.T203I		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	203					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCTTCCGTGGTGCCCAGGCC	0.577000													17	57					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249292	71249292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:71249292G>A	ENST00000398534.3	+	1	222	c.191G>A	c.(190-192)gGg>gAg	p.G64E		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	64	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GGCTCCTGTGGGGGCTCCAAG	0.662000													144	224					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880626	42880626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:42880626C>T	ENST00000334370.4	+	41	8671	c.8036C>T	c.(8035-8037)cCc>cTc	p.P2679L	MEGF8_ENST00000378073.4_Missense_Mutation_p.P340L|MEGF8_ENST00000251268.6_Missense_Mutation_p.P2746L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2746						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCTGGGGACCCATGGGAGGG	0.721000													7	19					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48403396	48403396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:48403396C>T	ENST00000376771.4	+	3	714	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBC1D25_ENST00000427713.1_Intron|TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000481090.1_Intron	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	125						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGTAGATATTCGGCCCTCGGA	0.547000													24	70					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440656	10440656	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:10440656C>T	ENST00000245503.5	-	16	2175	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.L597L|MYH2_ENST00000397183.2_Silent_p.L597L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	597	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCTTCTCCAGCCAGCCAG	0.527000													79	104					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109765019	109765019	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:109765019G>A	ENST00000602699.1	+	0	1480					NR_002718.2																						ACTGAAAGATGATCATTTGTT	0.348000													12	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432352	179432352	+	Silent	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:179432352A>T	ENST00000589042.1	-	326	78731	c.78507T>A	c.(78505-78507)gcT>gcA	p.A26169A	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.A24528A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A17104A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.A17296A|TTN_ENST00000342992.6_Silent_p.A23601A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.A17229A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24528	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTGCACCAGCTGCATTCT	0.383000													25	80					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100518374	100518374	+	Missense_Mutation	SNP	G	G	A	rs12933		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:100518374G>A	ENST00000457717.1	+	9	1316	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	MTTP_ENST00000511045.1_Missense_Mutation_p.E381K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.E354K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	354	Vitellogenin.		E -> Q (in dbSNP:rs12933).		lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGAAAATAAGGAAGTATTGTA	0.413000													17	80					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263126	51263126	+	Silent	SNP	C	C	T	rs139890793	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:51263126C>T	ENST00000266037.9	+	15	1322	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	433	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGGGGATTTCGAGAGAGGAG	0.463000													51	151					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37159965	37159965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:37159965G>A	ENST00000340630.5	-	5	792	c.347C>T	c.(346-348)cCa>cTa	p.P116L	IFT27_ENST00000433985.2_Missense_Mutation_p.P117L|IFT27_ENST00000453009.2_Missense_Mutation_p.P76L	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	117					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCCGTACCTGGGAGAGAGAT	0.547000													13	36					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933874	113933874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:113933874G>A	ENST00000297405.5	-	10	1859	c.1615C>T	c.(1615-1617)Cac>Tac	p.H539Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H435Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H539Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H499Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	539	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGGCCTGTGATCACTCCAA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	141					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890485	197890485	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:197890485G>A	ENST00000367390.3	+	4	429	c.402G>A	c.(400-402)tcG>tcA	p.S134S	LHX9_ENST00000561173.1_Silent_p.S149S|LHX9_ENST00000367391.1_Silent_p.S134S|LHX9_ENST00000367387.4_Silent_p.S143S|LHX9_ENST00000337020.2_Silent_p.S143S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	143	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCCGCCTCGGAGATGGTCA	0.577000													39	63					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146843	70146843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:70146843G>A	ENST00000335568.5	+	1	627	c.625G>A	c.(625-627)Gag>Aag	p.E209K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E209K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	209					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GACTTTCATGGAGAGGGTAAA	0.368000													18	114					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94842318	94842318	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:94842318C>A	ENST00000262554.2	-	5	412	c.407G>T	c.(406-408)aGa>aTa	p.R136I	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.R136I	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	136						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATAAAATCCTCTGGGTCCACA	0.373000													14	84					1.33834e-09	1.38287e-09	1	1	0
HARS	3035	broad.mit.edu	37	5	140056349	140056349	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140056349G>C	ENST00000504366.1	-	9	2696	c.877C>G	c.(877-879)Cgc>Ggc	p.R293G	HARS_ENST00000307633.3_Missense_Mutation_p.R302G|HARS_ENST00000504156.1_Missense_Mutation_p.R362G|HARS_ENST00000431330.2_Missense_Mutation_p.R248G|HARS_ENST00000457527.2_Missense_Mutation_p.R342G|HARS_ENST00000438307.2_Missense_Mutation_p.R322G|HARS_ENST00000415192.2_Missense_Mutation_p.R288G|HARS_ENST00000448240.1_Missense_Mutation_p.R167G			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	362					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CCATCATAGCGTCCTCCAGCA	0.602000													59	146					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755516	55755516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:55755516C>T	ENST00000373965.2	-	22	3176	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	PCDH15_ENST00000395430.1_Missense_Mutation_p.D921N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D884N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D921N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D921N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D921N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D921N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D532N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D928N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D899N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D850N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D926N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	921	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAGGATAATCATTCATATCC	0.398000										HNSCC(58;0.16)			17	30					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18245776	18245776	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:18245776C>T	ENST00000262811.5	+	16	1767	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	589	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGAACTCTTCGGTCAGGTGG	0.627000													38	77					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363543	108363543	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:108363543C>T	ENST00000361582.3	+	14	1904	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	DZIP3_ENST00000463306.1_Silent_p.I558I	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	558					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTGAGAATATCTCCCTTGATT	0.378000													38	111					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767367	105767367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:105767367G>A	ENST00000374798.3	+	5	524	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E152K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	152	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				gaaaggaaaagaagaaaagct	0.368000													9	21					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56481113	56481113	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:56481113G>A	ENST00000370765.6	-	24	7259	c.7152C>T	c.(7150-7152)tcC>tcT	p.S2384S	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1708					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATGCCCATAGGATTCAAAAA	0.388000													10	80					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122644	119122644	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:119122644C>T	ENST00000378204.2	-	1	1448	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	214					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGCCAGCATCGCCTGGCCGA	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				52	155					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525995	150525995	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:150525995G>A	ENST00000271643.4	+	6	764	c.528G>A	c.(526-528)cgG>cgA	p.R176R	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Silent_p.R176R|ADAMTSL4_ENST00000369039.5_Silent_p.R176R|ADAMTSL4_ENST00000369038.2_Silent_p.R176R	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	176					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCACCCTCGGAGCCCACCCA	0.592000													47	72					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8501043	8501043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:8501043C>T	ENST00000262648.3	-	14	2185	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	679					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			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						AGTTTAGTATCTTTCTGGAGA	0.388000													9	31					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55041298	55041298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:55041298C>T	ENST00000330807.5	-	9	1456	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.G427E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G403E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	440					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCCCTCCTCTCCCTTGAGCAG	0.612000													8	34					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362987	22362987	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:22362987C>T	ENST00000390438.2	+	0	246																											CCTGGTTCTGCTGAGGTGCAA	0.537000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	95					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72955984	72955984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:72955984G>A	ENST00000425042.2	-	8	1077	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C		NM_030630.2	NP_085133.1			HID1 domain containing																		GCCTCCTCACGATGGATGCGG	0.612000													29	232					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99169343	99169343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:99169343C>T	ENST00000424881.1	+	3	389	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	ZNF655_ENST00000425063.1_Silent_p.P85P|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Nonsense_Mutation_p.Q57*|ZNF655_ENST00000454654.1_Silent_p.P85P	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	45					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TGGGATCTCCCAGCTGGAACA	0.438000													6	28					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806854	34806854	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:34806854G>A	ENST00000338074.2	+	18	2486	c.2325G>A	c.(2323-2325)acG>acA	p.T775T	EPB41L1_ENST00000373941.1_Silent_p.T774T|EPB41L1_ENST00000441639.1_Silent_p.T673T|EPB41L1_ENST00000373946.3_Silent_p.T595T|EPB41L1_ENST00000373950.2_Silent_p.T666T|EPB41L1_ENST00000202028.5_Silent_p.T673T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	775	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCCACAGACGGTGGCCACGG	0.592000													10	61					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657492	143657492	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:143657492G>A	ENST00000392899.1	+	1	466	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTGTGCTAGGTTGGCCATCA	0.527000													45	112					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540148	55540148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:55540148G>A	ENST00000220676.1	+	4	3854	c.3706G>A	c.(3706-3708)Gat>Aat	p.D1236N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1236					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCTCTTTGGATGGAGGTTG	0.443000													62	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048512	9048512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:9048512C>T	ENST00000397910.4	-	5	33322	c.33119G>A	c.(33118-33120)gGa>gAa	p.G11040E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11042	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGTCACCACTCCTGGTACCTC	0.483000													13	97					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6521089	6521089	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr10:6521089G>A	ENST00000263125.5	-	12	1317	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PRKCQ_ENST00000397176.2_Silent_p.F406F|PRKCQ_ENST00000539722.1_Silent_p.F281F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	406	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.F406F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCTTTATTGCGAAAAATTGAT	0.398000													20	64					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													15	109					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627000													9	122					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63328472	63328472	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:63328472G>A	ENST00000228705.6	-	1	345	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	15							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAGCCATGATGCCGCCCATGA	0.697000													5	23					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779298	150779298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:150779298C>T	ENST00000392818.3	-	2	710	c.353G>A	c.(352-354)aGg>aAg	p.R118K	TMUB1_ENST00000297533.4_Missense_Mutation_p.R118K|TMUB1_ENST00000462940.1_Missense_Mutation_p.R118K|TMUB1_ENST00000482202.1_Missense_Mutation_p.R118K|TMUB1_ENST00000476627.1_Missense_Mutation_p.R118K	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	118	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCAGGCCCTGGCCACCTG	0.607000													48	514					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273799	159273799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:159273799G>A	ENST00000368115.1	+	4	257	c.158G>A	c.(157-159)gGg>gAg	p.G53E	FCER1A_ENST00000368114.1_Intron	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	53	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACATGTAATGGGAACAATTTC	0.363000													44	52					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697782	48697782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:48697782G>A	ENST00000236495.5	+	8	981	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	SLC5A9_ENST00000533824.1_Missense_Mutation_p.G307R|SLC5A9_ENST00000438567.2_Missense_Mutation_p.G286R|SLC5A9_ENST00000420136.2_Intron	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	286						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCTCATTTTCGGGCTCACAGT	0.617000													13	79					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				60	80					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151082837	151082837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:151082837G>A	ENST00000474524.1	+	20	2961	c.2923G>A	c.(2923-2925)Gat>Aat	p.D975N	MED12L_ENST00000273432.4_Missense_Mutation_p.D835N|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	975					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTGCGATGGGATCCAGACTT	0.418000													83	251					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102820922	102820922	+	Silent	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:102820922T>A	ENST00000260302.3	-	6	862	c.834A>T	c.(832-834)ccA>ccT	p.P278P	MMP13_ENST00000340273.4_Silent_p.P278P	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	278					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTGGCGTTTTTGGATGTTTAG	0.438000													36	154					0	0	1	0	0
XAGE3	170626	broad.mit.edu	37	X	52893847	52893847	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:52893847C>T	ENST00000346279.3	-	4	340	c.270G>A	c.(268-270)ggG>ggA	p.G90G	XAGE3_ENST00000375491.3_Silent_p.G90G	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	90										kidney(1)|large_intestine(1)|lung(2)	4						GCAGAATCTTCCCCTGGTCAT	0.398000													39	125					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880777	153880777	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:153880777A>G	ENST00000247306.4	-	2	461	c.398T>C	c.(397-399)cTg>cCg	p.L133P	CTAG2_ENST00000369585.3_Missense_Mutation_p.L133P	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	133						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACATAAACAGTAGGTTGCC	0.652000													41	154					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53050013	53050013	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:53050013C>A	ENST00000305901.5	-	2	1264	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	ONECUT1_ENST00000560699.2_Missense_Mutation_p.R20M|ONECUT1_ENST00000561401.2_5'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	379					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGCCTCTATCCTTCCCATGTT	0.433000													34	245					1.90571e-15	2.04079e-15	1	1	0
CLCN4	1183	broad.mit.edu	37	X	10181845	10181845	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:10181845G>A	ENST00000380833.4	+	11	2092	c.1701G>A	c.(1699-1701)ggG>ggA	p.G567G	CLCN4_ENST00000421085.2_Silent_p.G473G|CLCN4_ENST00000380829.1_Silent_p.G536G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	567						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGCATTTGGGAAAGAAGGCA	0.542000													34	103					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568246	131568246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:131568246G>A	ENST00000372648.5	+	10	1177	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	TBC1D13_ENST00000539497.1_Missense_Mutation_p.A162T|TBC1D13_ENST00000223865.8_Missense_Mutation_p.A218T	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	343	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTCCCTCTTCGCCGATGACAA	0.582000													15	47					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397696	10397696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:10397696G>A	ENST00000226207.5	-	39	5736	c.5642C>T	c.(5641-5643)tCc>tTc	p.S1881F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1881						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						TCTCTTGTAGGATTTCACCTT	0.433000													32	78					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77421857	77421857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:77421857G>A	ENST00000322886.7	-	11	2181	c.1946C>T	c.(1945-1947)cCc>cTc	p.P649L	E2F7_ENST00000416496.2_Missense_Mutation_p.P649L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	649					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GTCTTTGAGGGGTATAGATGC	0.453000													13	81					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703794	3703794	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:3703794G>A	ENST00000378251.1	-	2	723	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	232					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TGTTCCCACGGAAATTGATCT	0.592000													22	79					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531925	92531925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:92531925C>T	ENST00000298047.6	+	9	5763	c.5746C>T	c.(5746-5748)Cct>Tct	p.P1916S	FAT3_ENST00000525166.1_Missense_Mutation_p.P1766S|FAT3_ENST00000409404.2_Missense_Mutation_p.P1916S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1916	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTACCCCCTGAACTGAC	0.418000										TCGA Ovarian(4;0.039)			11	25					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183994302	183994302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:183994302G>A	ENST00000404464.3	+	2	211	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E25K|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000402825.3_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTCGGGATGAAGACGCACC	0.672000													9	21					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284320	118284320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:118284320C>T	ENST00000402510.2	-	1	222	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	75										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTAGGTATTTCCAGGTCAGTC	0.542000													8	29					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784960	152784960	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:152784960C>A	ENST00000360090.3	+	1	514	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	13	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCAGCCccctcccaagtgc	0.602000													37	142					1.59361e-14	1.69681e-14	1	1	0
DPYS	1807	broad.mit.edu	37	8	105459571	105459571	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:105459571T>A	ENST00000351513.2	-	3	716	c.584A>T	c.(583-585)aAt>aTt	p.N195I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	195					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TAAGTCTCCATTTTCCGCATG	0.458000													19	63					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32398132	32398132	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr18:32398132C>T	ENST00000283365.9	+	9	1065	c.714C>T	c.(712-714)ttC>ttT	p.F238F	DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Silent_p.F238F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Silent_p.F238F|DTNA_ENST00000444659.1_Silent_p.F238F|DTNA_ENST00000399121.5_Silent_p.F238F|DTNA_ENST00000269190.7_Silent_p.F238F|DTNA_ENST00000598334.1_Silent_p.F238F|DTNA_ENST00000269191.6_Silent_p.F238F|DTNA_ENST00000399113.3_Silent_p.F238F|DTNA_ENST00000315456.6_Silent_p.F238F|DTNA_ENST00000598774.1_Silent_p.F238F|DTNA_ENST00000348997.5_Silent_p.F238F|DTNA_ENST00000598142.1_Silent_p.F238F|DTNA_ENST00000595022.1_Silent_p.F238F	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	238	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTTAGTCTTCCATCCGGTTG	0.438000													12	71					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68430207	68430207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:68430207C>T	ENST00000297770.4	-	3	483	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.G90S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	90					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCTCGGGAACCATTTTGGGGG	0.448000													69	129					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	38					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416319	105416319	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:105416319G>A	ENST00000333244.5	-	7	5588	c.5469C>T	c.(5467-5469)ttC>ttT	p.F1823F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1823						nucleus				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)			TGGGCATTTTGAACTTGCTGT	0.612000													118	793					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243460	13243460	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:13243460C>A	ENST00000337630.6	-	2	369	c.302G>T	c.(301-303)tGt>tTt	p.C101F	GSG1_ENST00000396310.2_Missense_Mutation_p.C98F|GSG1_ENST00000351606.6_Missense_Mutation_p.C114F|GSG1_ENST00000537302.1_Missense_Mutation_p.C101F|GSG1_ENST00000324458.8_Missense_Mutation_p.C114F|GSG1_ENST00000432710.2_Missense_Mutation_p.C114F|GSG1_ENST00000457134.2_Missense_Mutation_p.C101F|GSG1_ENST00000396302.3_Missense_Mutation_p.C101F	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	101						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTTCCTCACAGGATAGCCA	0.537000													12	74					0.00010058	0.000101671	1	1	0
SLC25A53	401612	broad.mit.edu	37	X	103349591	103349591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:103349591C>T	ENST00000357421.4	-	2	530	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	117					transport	integral to membrane|mitochondrial inner membrane											GGCAGCCCAGCGGTGTCCCAG	0.587000													30	234					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5372754	5372754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:5372754C>T	ENST00000380219.1	+	1	17	c.17C>T	c.(16-18)tCt>tTt	p.S6F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAATAAGTCTGCTTCCACC	0.438000													14	56					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321526	40321526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:40321526C>T	ENST00000264661.3	-	9	1891	c.1559G>A	c.(1558-1560)tGg>tAg	p.W520*	KCNH4_ENST00000607371.1_Nonsense_Mutation_p.W520*	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	520					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTGACGGCCCACGTGGTCTG	0.642000													15	76					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6797551	6797551	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:6797551C>T	ENST00000403107.1	+	2	630	c.243C>T	c.(241-243)ctC>ctT	p.L81L	RSPH10B2_ENST00000404077.1_Silent_p.L81L|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.L81L|RSPH10B2_ENST00000297186.3_Silent_p.L81L					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TGACCAAACTCATAGTGGAAA	0.448000													66	290					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574511	57574511	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:57574511C>G	ENST00000243077.3	+	33	5914	c.5448C>G	c.(5446-5448)gaC>gaG	p.D1816E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1816					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAAGGCTGACGGCTCGGGCT	0.637000													25	75					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169801573	169801573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:169801573G>A	ENST00000286031.6	+	16	2165	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.G489R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	489										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCATGCCCTGGAGAATGTTA	0.378000													51	123					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24909338	24909338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:24909338G>A	ENST00000413389.2	+	5	1895	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	UPB1_ENST00000326010.5_Missense_Mutation_p.R169Q			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	169	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATCCTGGAACGAGACAGCGAG	0.488000													19	48					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021897	197021897	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:197021897C>T	ENST00000367412.1	-	9	1465	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	474	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAAGACTTTCCCTTCATATT	0.323000													43	94					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183438	1183438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:1183438C>T	ENST00000333813.3	+	1	482	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	48					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGACCCTCTCGGGGCCTCTG	0.642000													41	97					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234613	81234613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:81234613G>A	ENST00000394685.3	+	27	4053	c.3634G>A	c.(3634-3636)Gag>Aag	p.E1212K	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E1212K|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E1212K			Q8WUJ3	K1199_HUMAN	KIAA1199	1212										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTTCTTGGAGGTGAAGAT	0.483000													39	99					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327185	150327185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:150327185C>T	ENST00000328902.5	-	2	262	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E16K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	16							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGCTCTTCTGGGGGATTC	0.438000													65	233					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003849	228003849	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:228003849G>A	ENST00000366757.3	+	2	231	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCCGAGAGGAAGTGGCCGT	0.667000													65	123					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106841246	106841246	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:106841246G>T	ENST00000276185.4	+	15	2236	c.2236G>T	c.(2236-2238)Gtg>Ttg	p.V746L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	746						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GATTGACAGTGTGCAGACCCG	0.587000													37	133					9.62906e-15	1.02722e-14	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121393	38121393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:38121393G>A	ENST00000406386.3	+	7	3085	c.2830G>A	c.(2830-2832)Ggt>Agt	p.G944S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	944					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCAACCCAAGGTGACAGGCC	0.642000													49	206					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378190	149378190	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:149378190C>T	ENST00000415338.1	-	0	1061																											CACTTGCTCCCCGTGAGCACT	0.537000													19	31					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154886358	154886358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:154886358C>T	ENST00000460393.1	+	19	1978	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	MME_ENST00000462745.1_Nonsense_Mutation_p.Q620*|MME_ENST00000492661.1_Nonsense_Mutation_p.Q620*|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Nonsense_Mutation_p.Q620*|MME_ENST00000360490.2_Nonsense_Mutation_p.Q620*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	620					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGAGCAATCCCAGTGCATGGT	0.393000													31	96					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83356194	83356194	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:83356194C>T	ENST00000296591.5	-	9	1480	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	EDIL3_ENST00000380138.3_Silent_p.R344R|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	354	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCCGAGCTTTCCTTGGTTCCC	0.468000													16	77					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30865345	30865345	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:30865345C>T	ENST00000324771.8	+	17	2735	c.2187C>T	c.(2185-2187)gaC>gaT	p.D729D	DDR1_ENST00000376569.3_Silent_p.D692D|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.D710D|DDR1_ENST00000513240.1_Silent_p.D735D|DDR1_ENST00000376568.3_Silent_p.D729D|DDR1_ENST00000376575.3_Silent_p.D735D|DDR1_ENST00000361741.4_Silent_p.D396D|DDR1_ENST00000452441.1_Silent_p.D729D|DDR1_ENST00000376567.2_Silent_p.D692D|DDR1_ENST00000418800.2_Silent_p.D692D|DDR1_ENST00000376570.4_Silent_p.D692D|DDR1_ENST00000454612.2_Silent_p.D692D			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	729	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCCTGGGGACGGGCAGGCTG	0.642000													15	55					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140502262C>T	ENST00000194152.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542000													18	107					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045833	167045833	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:167045833G>A	ENST00000392766.2	-	11	1099	c.759C>T	c.(757-759)ttC>ttT	p.F253F	ZBBX_ENST00000392764.1_Silent_p.F224F|ZBBX_ENST00000455345.2_Silent_p.F253F|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.F253F|ZBBX_ENST00000307529.5_Silent_p.F253F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	253						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTCTTCATCGAATGACCCTT	0.383000													50	155					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76396874	76396874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:76396874C>T	ENST00000262764.6	+	6	844	c.818C>T	c.(817-819)tCc>tTc	p.S273F	PGS1_ENST00000329897.7_Missense_Mutation_p.S138F|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	273					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	p.S273F(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGGGATGTGTCCCTGCAGCTG	0.617000													14	80					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207310189	207310189	+	Missense_Mutation	SNP	T	T	G	rs112012170	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:207310189T>G	ENST00000264377.3	+	2	701	c.373T>G	c.(373-375)Tcg>Gcg	p.S125A	ADAM23_ENST00000374415.3_Missense_Mutation_p.S125A|ADAM23_ENST00000374416.1_Missense_Mutation_p.S125A	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	125					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAACCAAGACTCGGAAAGCCC	0.403000													12	238					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328048	39328048	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:39328048T>A	ENST00000594769.1	-	5	536	c.537A>T	c.(535-537)tgA>tgT	p.*179C	HNRNPL_ENST00000221419.5_Missense_Mutation_p.N563Y|HNRNPL_ENST00000600873.1_Missense_Mutation_p.N430Y																							TGGTAATGGTTCAGGAAGCCC	0.532000													11	89					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967796	25967796	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:25967796C>T	ENST00000395473.2	+	3	1798	c.330C>T	c.(328-330)ttC>ttT	p.F110F	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000313648.6_Silent_p.F110F|LGALS9_ENST00000413914.2_Silent_p.F53F|LGALS9_ENST00000302228.5_Silent_p.F110F|LGALS9_ENST00000310394.5_Silent_p.F110F|AC015688.3_ENST00000584605.1_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	110	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTCAGATTTCAAGGTGAGCA	0.557000													28	56					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149767574	149767574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:149767574C>T	ENST00000451292.1	+	19	3188	c.3080C>T	c.(3079-3081)tCg>tTg	p.S1027L	TCOF1_ENST00000445265.2_Missense_Mutation_p.S913L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S913L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1027L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S990L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S990L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S990L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	990					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCGAGCCTCGGAGAGCACA	0.627000													22	114					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274125	51274125	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:51274125A>C	ENST00000270590.4	+	1	405	c.268A>C	c.(268-270)Atg>Ctg	p.M90L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	90						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCCGATTTCATGCTCTCACT	0.562000													18	67					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238400	53238400	+	Silent	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:53238400C>A	ENST00000359499.4	-	5	545	c.534G>T	c.(532-534)cgG>cgT	p.R178R	KRT78_ENST00000304620.4_Silent_p.R288R			Q8N1N4	K2C78_HUMAN	keratin 78	288	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCCTCGTACCGGGCGCGGA	0.632000													18	102					3.41278e-10	3.53942e-10	1	1	0
HK3	3101	broad.mit.edu	37	5	176316509	176316509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:176316509C>T	ENST00000292432.5	-	8	878	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	263	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGGTCTTCGTCCAGCACT	0.642000													13	94					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26709227	26709227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:26709227G>A	ENST00000381340.3	-	36	5319	c.4903C>T	c.(4903-4905)Cca>Tca	p.P1635S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1635					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCAGTTCTGGACTGTACAAT	0.473000													19	112					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623056	20623056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:20623056G>A	ENST00000525748.1	+	2	658	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	129					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCGAGGCCCGGAGGGGGATGC	0.672000													7	28					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038205	37038205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:37038205C>A	ENST00000334116.7	-	6	1550	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	ZNF529_ENST00000591340.1_Nonsense_Mutation_p.E419*	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TAGGGTTTTTCACCAGTATGA	0.368000													23	161					8.04996e-18	8.73772e-18	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137766044	137766044	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:137766044G>T	ENST00000314358.5	+	22	5200	c.5000G>T	c.(4999-5001)gGc>gTc	p.G1667V	KDM3B_ENST00000394866.1_Missense_Mutation_p.G1323V|KDM3B_ENST00000542866.1_Missense_Mutation_p.G699V	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1667	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGAGTATGGCGTGCAAGGC	0.547000													26	121					2.27525e-19	2.47927e-19	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133943608	133943608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:133943608G>A	ENST00000361069.4	+	15	2870	c.2737G>A	c.(2737-2739)Ggc>Agc	p.G913S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	913	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCTGGGAGGGGCTGCCGGAG	0.667000													10	44					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80726350	80726350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:80726350C>T	ENST00000355528.4	+	5	620	c.490C>T	c.(490-492)Cct>Tct	p.P164S	TBCD_ENST00000539345.2_Missense_Mutation_p.P164S|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCCTGATCCCTTTTGATTT	0.473000													81	208					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922092	24922092	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:24922092C>T	ENST00000329468.2	+	1	1552	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCTCCCCTGCCTGTCTGTTGA	0.517000													17	60					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116304	161116304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:161116304C>T	ENST00000523217.1	+	5	703	c.461C>T	c.(460-462)cCt>cTt	p.P154L	GABRA6_ENST00000274545.5_Missense_Mutation_p.P164L|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTAACTTTCCTATGGATGGG	0.388000										TCGA Ovarian(5;0.080)			54	70					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802712	54802712	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:54802712G>A	ENST00000391745.1	-	9	1096	c.780C>T	c.(778-780)acC>acT	p.T260T	LILRA3_ENST00000251390.3_Silent_p.T243T|LILRA3_ENST00000391744.3_Silent_p.T179T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAAGGTCAGCTTCT	0.612000													42	28					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368834	158368834	+	Silent	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:158368834C>A	ENST00000334438.1	-	1	422	c.423G>T	c.(421-423)ctG>ctT	p.L141L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACTCCAACCCCAGCCTTTTGT	0.478000													11	159					6.72482e-11	7.0265e-11	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135582921	135582921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:135582921C>T	ENST00000535601.1	+	5	936	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	HTATSF1_ENST00000218364.4_Missense_Mutation_p.L172F	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	172	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAAGGTCAAACTTTACAAAGA	0.318000													71	189					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756613	49756613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:49756613C>T	ENST00000535833.1	-	10	3736	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.E96K			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	96					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATCTAGTTCGTTGTGGTCT	0.667000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	119					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759071	121759071	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:121759071G>A	ENST00000261367.7	+	6	2208	c.780G>A	c.(778-780)gtG>gtA	p.V260V	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Silent_p.V213V|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.V260V|SNCAIP_ENST00000503116.2_Silent_p.V260V|SNCAIP_ENST00000261368.8_Silent_p.V213V|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	213					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTTCTCCCGTGAAAAGCCCTC	0.483000													28	113					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26664149	26664149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:26664149G>A	ENST00000527815.1	-	8	951	c.902C>T	c.(901-903)gCc>gTc	p.A301V	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.A130V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	130							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		AAAGCCTGGGGCCTCATACAC	0.627000													18	46					0	0	1	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2286835	2286835	+	Silent	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:2286835T>A	ENST00000564065.1	+	1	1019	c.18T>A	c.(16-18)gcT>gcA	p.A6A	DNASE1L2_ENST00000320700.5_Silent_p.A6A|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000567494.1_Silent_p.A6A|DNASE1L2_ENST00000382437.4_Silent_p.A6A			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	6					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						GGCCCCGGGCTCTGCTGGCCG	0.701000													4	13					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80146169	80146169	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:80146169G>A	ENST00000392347.1	-	7	1014	c.978C>T	c.(976-978)acC>acT	p.T326T	CCDC57_ENST00000392343.3_Silent_p.T326T|CCDC57_ENST00000389641.4_Silent_p.T326T	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	326										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCGCCTCGAGGGTCTCGCAGT	0.657000													4	17					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709083	101709083	+	Silent	SNP	A	A	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:101709083A>C	ENST00000506729.1	-	13	2304	c.2133T>G	c.(2131-2133)gtT>gtG	p.V711V	SLCO6A1_ENST00000379810.1_Silent_p.V458V|SLCO6A1_ENST00000389019.3_Silent_p.V649V|SLCO6A1_ENST00000513675.1_Silent_p.V458V|SLCO6A1_ENST00000379807.3_Silent_p.V711V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	711						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTTTTTCTTAACTTTTGGAT	0.289000													16	103					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798008	31798008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr21:31798008G>A	ENST00000390690.2	-	1	278	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	75	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GTGTGGCAGGGGCTGGACTCA	0.567000													11	49					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50146129	50146129	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:50146129G>A	ENST00000376025.2	-	0	1297							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGACACACTGCACACTGAGA	0.453000													8	25					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611890	42611890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:42611890G>A	ENST00000276410.2	-	5	807	c.452C>T	c.(451-453)cCa>cTa	p.P151L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P136L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	151						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAAAATAGCTGGTGGAGTCCA	0.408000													29	177					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186567923	186567923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:186567923G>A	ENST00000431808.1	-	11	1146	c.583C>T	c.(583-585)Cct>Tct	p.P195S	SORBS2_ENST00000449407.2_Missense_Mutation_p.P266S|SORBS2_ENST00000448662.2_Missense_Mutation_p.P264S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P295S|SORBS2_ENST00000437304.2_Missense_Mutation_p.P374S|SORBS2_ENST00000319471.9_Missense_Mutation_p.P281S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P99S|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.P195S|SORBS2_ENST00000393528.3_Missense_Mutation_p.P241S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	195						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			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)		CTGTCTGGAGGATCCCAGTCA	0.353000													7	75					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535203	88535203	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:88535203T>G	ENST00000399271.1	+	5	1509	c.1389T>G	c.(1387-1389)gaT>gaG	p.D463E	DSPP_ENST00000282478.7_Missense_Mutation_p.D463E|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	463	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGCAAGGAGATGATCCCAATA	0.393000													16	80					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230085	140230085	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:140230085C>T	ENST00000378122.3	+	1	2729	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	PCDHA9_ENST00000532602.1_Silent_p.L669L|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGTCGCTGGTGGAGAG	0.672000													37	129					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738677	41738677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:41738677G>A	ENST00000373018.3	-	7	1410	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	FRS3_ENST00000259748.2_Missense_Mutation_p.P387S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	387					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTGGCACAGGAAAGCTGCCG	0.657000													20	92					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200971395	200971395	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:200971395C>T	ENST00000332129.2	-	9	1612	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	KIF21B_ENST00000461742.2_Silent_p.G432G|KIF21B_ENST00000360529.5_Silent_p.G432G|KIF21B_ENST00000422435.2_Silent_p.G432G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	432					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCGCAGGGCCCCATTCTCCT	0.597000													80	93					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219023	1219023	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:1219023G>A	ENST00000304460.10	+	9	1235	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	393					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCAGGCCGTGGAGGGCACAG	0.637000													22	90					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068080	73068080	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:73068080G>A	ENST00000429829.1	-	0	4508					NR_001564.2																						GAATATGAGGGGATGAGACCC	0.423000													11	37					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50530955	50530955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:50530955C>T	ENST00000444124.2	-	14	1617	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	DDC_ENST00000431062.1_Missense_Mutation_p.D380N|DDC_ENST00000426377.1_Missense_Mutation_p.D395N|DDC_ENST00000357936.5_Missense_Mutation_p.D473N	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	473					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGCAGCACGTCGGCCGCCAGC	0.602000													8	41					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961379	165961379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:165961379C>T	ENST00000512596.1	+	3	371	c.155C>T	c.(154-156)cCc>cTc	p.P52L	TRIM60_ENST00000508504.1_Missense_Mutation_p.P52L|TRIM60_ENST00000341062.5_Missense_Mutation_p.P52L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	52						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GATACCTTTCCCTGTCCTGTC	0.483000													10	68					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026044	79026044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:79026044G>A	ENST00000446378.2	+	2	1487	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	486	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGAAGGAGGAAAACATGCT	0.468000													18	153					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048837	107048837	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:107048837C>T	ENST00000390627.2	-	0	403																											CCAGCCCCTTCCCTGGAGCCT	0.572000													32	490					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792134	8792134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:8792134C>T	ENST00000447110.1	-	10	1094	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E324K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E324K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	324				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctcttcctcctcttcA	0.577000													16	22					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136260750	136260750	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:136260750G>A	ENST00000371957.3	+	9	833	c.726G>A	c.(724-726)cgG>cgA	p.R242R	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	242	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCATCTGCGGAAGTCCCTCC	0.567000													27	63					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303752	115303752	+	Missense_Mutation	SNP	G	G	T	rs144663835		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:115303752G>T	ENST00000371906.4	+	3	409	c.219G>T	c.(217-219)aaG>aaT	p.K73N		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	73					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GTTGTCAAAAGGGTCCTAAAA	0.353000													73	267					1.38705e-31	1.51438e-31	1	1	0
STAB2	55576	broad.mit.edu	37	12	104078802	104078802	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:104078802C>T	ENST00000388887.2	+	27	3141	c.2937C>T	c.(2935-2937)agC>agT	p.S979S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	979	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCTGGAGCTGTGTTTGTC	0.423000													11	110					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507145	64507145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:64507145C>T	ENST00000377494.1	-	6	1581	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	RASGRP2_ENST00000377497.3_Missense_Mutation_p.R220Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.R220Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R220Q			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	220	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGGGCCCGCTGCGGGGC	0.632000													45	91					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971782	99971782	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:99971782G>T	ENST00000198536.2	+	2	392	c.180G>T	c.(178-180)gaG>gaT	p.E60D	PILRA_ENST00000453419.1_Missense_Mutation_p.E60D|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.E60D|PILRA_ENST00000394000.2_Missense_Mutation_p.E60D	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	60	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCCTGGGAGTTAGCCACAG	0.542000													26	146					1.90571e-15	2.04079e-15	1	1	0
IGHV4-39	28394	broad.mit.edu	37	14	106877763	106877763	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:106877763C>T	ENST00000390619.2	-	0	280																											AATAGATACTCCCAATCCACT	0.552000													15	250					0	0	1	0	0
LOC339874	339874	broad.mit.edu	37	3	131082318	131082318	+	RNA	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:131082318G>A	ENST00000502521.1	-	0	239				NUDT16P_ENST00000499077.2_RNA	NR_038976.1																						TACCCTCCAGGACTTGGGAGT	0.557000													8	14					0	0	1	0	0
PYCRL	65263	broad.mit.edu	37	8	144687915	144687915	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:144687915G>A	ENST00000220966.6	-	6	845	c.816C>T	c.(814-816)gcC>gcT	p.A272A	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.A123A	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	260					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGCCTCCACGGCGCTCATGG	0.682000													9	70					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700540	26700540	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:26700540C>T	ENST00000272371.2	-	19	2418	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L	OTOF_ENST00000402415.3_Silent_p.L74L|OTOF_ENST00000338581.6_Silent_p.L17L|OTOF_ENST00000339598.3_Silent_p.L17L|OTOF_ENST00000403946.3_Silent_p.L764L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	764					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCTCCTCCAGGACGCCCC	0.622000													14	66					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399303	127399303	+	Silent	SNP	C	C	T	rs138384733	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:127399303C>T	ENST00000468137.1	+	11	1612	c.996C>T	c.(994-996)atC>atT	p.I332I	ABTB1_ENST00000453791.2_Silent_p.I332I|ABTB1_ENST00000393363.3_Silent_p.I332I|ABTB1_ENST00000232744.8_Silent_p.I474I			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	474	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCGTGTCCATCGGTCTGGACT	0.627000													9	20					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105668	151105668	+	Silent	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:151105668C>A	ENST00000341697.3	-	19	3776	c.2085G>T	c.(2083-2085)ctG>ctT	p.L695L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	695						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGGCAGGCCAGCTCCGGCG	0.741000													6	13					3.59834e-05	3.64397e-05	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113140939	113140939	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:113140939A>C	ENST00000316851.7	+	16	2131	c.2131A>C	c.(2131-2133)Acc>Ccc	p.T711P	NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	721					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCCTGAGCACCGGGGCCAT	0.582000													71	146					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110613	207110613	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:207110613G>T	ENST00000356495.4	-	4	1055	c.872C>A	c.(871-873)cCa>cAa	p.P291Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	291	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAAAGGCTGGGGCCCTCTT	0.607000													16	117					2.62699e-14	2.7865e-14	1	1	0
GBP4	115361	broad.mit.edu	37	1	89658997	89658997	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:89658997C>T	ENST00000355754.6	-	4	559	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	154						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGCTGCTCCAGGGCCTGGT	0.493000													7	85					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48757161	48757161	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:48757161G>A	ENST00000285238.8	+	26	3788	c.3708G>A	c.(3706-3708)gtG>gtA	p.V1236V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1236	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGGCCAGGTGACATTTGCTC	0.512000													24	54					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541975	55541975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:55541975G>A	ENST00000220676.1	+	4	5681	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1845					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGTGCCAAGGAAAGAATAGC	0.403000													28	57					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	84					0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134947978	134947978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:134947978G>A	ENST00000370724.3	-	3	591	c.347C>T	c.(346-348)cCc>cTc	p.P116L	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.P116L	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	116										endometrium(1)|large_intestine(2)|lung(6)	9						TTGGCTTTTGGGAGAGGAGGC	0.423000													130	227					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985238	985238	+	Missense_Mutation	SNP	G	G	A	rs139918804	byFrequency	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:985238G>A	ENST00000361661.2	-	3	631	c.254C>T	c.(253-255)cCg>cTg	p.P85L	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.P85L|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.P85L	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	85						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GATGGCCTGCGGCACCAGGAT	0.637000													30	165					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40934520	40934520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:40934520G>A	ENST00000313164.9	+	4	591	c.232G>A	c.(232-234)Gga>Aga	p.G78R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	78	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACCTACAAGAGGATGTCCAAC	0.463000													84	132					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889468	3889468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:3889468C>T	ENST00000602557.1	-	4	1124	c.569G>A	c.(568-570)gGa>gAa	p.G190E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G190E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G190E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G190E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G190E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G190E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G190E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	190	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACCATTTCCTGGGCTGAC	0.557000													16	24					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772444	157772444	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:157772444G>A	ENST00000358292.3	-	4	381	c.330C>T	c.(328-330)gtC>gtT	p.V110V	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.V110V|FCRL1_ENST00000491942.1_Silent_p.V110V	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	110	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCACATCAGCGACAGGGACCC	0.537000													5	35					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451746	123451746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:123451746C>T	ENST00000360772.3	-	12	1891	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	MYLK_ENST00000360304.3_Missense_Mutation_p.E505K|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000359169.1_Missense_Mutation_p.E505K|MYLK_ENST00000475616.1_Missense_Mutation_p.E505K			Q15746	MYLK_HUMAN	myosin light chain kinase	505					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACTCACTTTCCACTTGGAGG	0.572000													17	47					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760406	153760406	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:153760406C>A	ENST00000393562.2	-	12	1927	c.1544G>T	c.(1543-1545)gGc>gTc	p.G515V	G6PD_ENST00000369620.2_Missense_Mutation_p.G531V|G6PD_ENST00000393564.2_Missense_Mutation_p.G485V	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	485					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTCACCTGCCATAAATATA	0.632000													19	28					5.35267e-07	5.47009e-07	1	1	0
OR8H3	390152	broad.mit.edu	37	11	55889998	55889998	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:55889998C>T	ENST00000313472.3	+	1	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TATTGATAATCCGCCTGGACC	0.438000													42	353					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949269	26949269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:26949269G>A	ENST00000539517.2	-	3	678	c.361C>T	c.(361-363)Cga>Tga	p.R121*	NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Nonsense_Mutation_p.R121*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R121*|NOVA1_ENST00000344429.5_Nonsense_Mutation_p.R121*|NOVA1_ENST00000547619.1_Nonsense_Mutation_p.R121*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	124					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCATTTCTCGAATTTTTTCT	0.438000													23	104					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369294	56369294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:56369294C>T	ENST00000301295.6	+	3	957	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	NLRP4_ENST00000346986.5_Missense_Mutation_p.R179W|NLRP4_ENST00000587891.1_Missense_Mutation_p.R104W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	179	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGATCTTTCGGGATAGGTT	0.498000													63	113					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180379	38180379	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:38180379A>T	ENST00000417037.2	+	1	411	c.227A>T	c.(226-228)cAa>cTa	p.Q76L	MYD88_ENST00000396334.3_Missense_Mutation_p.Q76L|MYD88_ENST00000495303.1_Missense_Mutation_p.Q76L|MYD88_ENST00000424893.1_Missense_Mutation_p.Q76L|MYD88_ENST00000443433.2_Missense_Mutation_p.Q76L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	63	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGATCCGGCAACTGGAGACA	0.657000			Mis		ABC-DLBCL								16	161					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688624	81688624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:81688624G>A	ENST00000550584.2	-	23	3210	c.2915C>T	c.(2914-2916)aCa>aTa	p.T972I	PPFIA2_ENST00000549325.1_Missense_Mutation_p.T957I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T819I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T873I|PPFIA2_ENST00000541017.1_Missense_Mutation_p.T189I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T972I|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T972I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T898I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T957I|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T972I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T539I	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	898										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTTCGAGATGTTGGAGGAGC	0.458000													4	24					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51236836	51236836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:51236836G>A	ENST00000551456.1	+	1	134	c.89G>A	c.(88-90)aGg>aAg	p.R30K	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.R30K			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	30					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GGAAGGCACAGGCTCGGCCCC	0.677000													4	18					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872668	55872668	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:55872668C>T	ENST00000313503.1	+	1	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTGATAATCCGCCTGGACC	0.423000										HNSCC(53;0.14)			72	173					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105905302	105905302	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:105905302G>C	ENST00000372548.4	+	12	2145	c.2036G>C	c.(2035-2037)aGg>aCg	p.R679T	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.R582T	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	679										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATAAGTGATAGGTGGGAGAGT	0.378000													21	123					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288629	144288629	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:144288629C>A	ENST00000549981.1	-	9	760	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	TPK1_ENST00000360057.3_Missense_Mutation_p.G130W|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	130					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCAAAACGCCCAGCAAGGCCT	0.408000													13	119					6.31663e-08	6.47889e-08	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66774132	66774132	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:66774132A>T	ENST00000307102.5	+	6	1139	c.608A>T	c.(607-609)gAg>gTg	p.E203V	MAP2K1_ENST00000566326.1_Missense_Mutation_p.E27V	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	203	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCCCGTGGGGAGATCAAGCTC	0.522000													45	102					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653121	18653121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:18653121G>A	ENST00000308799.4	+	3	976	c.757G>A	c.(757-759)Gat>Aat	p.D253N	FBXW10_ENST00000395667.1_Missense_Mutation_p.D253N|FBXW10_ENST00000301938.4_Missense_Mutation_p.D253N|FBXW10_ENST00000395665.4_Missense_Mutation_p.D253N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	253										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCCAGGGTACGATCCCTGCAA	0.483000													46	78					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16381957	16381957	+	Missense_Mutation	SNP	G	G	T	rs149940233		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:16381957G>T	ENST00000375679.4	+	17	1895	c.1784G>T	c.(1783-1785)cGa>cTa	p.R595L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R426L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCATAGTGCGAAGGGCCCAG	0.617000													5	47					0.00198382	0.00199094	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79030152	79030152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:79030152C>T	ENST00000446378.2	+	2	5595	c.5564C>T	c.(5563-5565)tCa>tTa	p.S1855L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1855				S -> G (in Ref. 3; AAH63134).		perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCAGTTTTCACTTATGAGA	0.333000													14	87					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148674898	148674898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:148674898G>A	ENST00000241416.7	+	6	1355	c.719G>A	c.(718-720)gGa>gAa	p.G240E	ACVR2A_ENST00000404590.1_Missense_Mutation_p.G240E|ACVR2A_ENST00000535787.1_Missense_Mutation_p.G132E	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	240	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGTTTGCCTGGAATGAAGCAT	0.378000													14	56					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340013	55340013	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:55340013G>T	ENST00000314634.3	+	1	410	c.410G>T	c.(409-411)tGg>tTg	p.W137L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATAAGCCAGTGGGTCTGTGGT	0.512000													22	123					2.37509e-13	2.50979e-13	1	1	0
LMTK3	114783	broad.mit.edu	37	19	49001529	49001529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:49001529C>T	ENST00000600059.1	-	11	3024	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D962N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTCTCTGGTCCCCGTTCTCC	0.647000													22	65					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226481	23226481	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:23226481C>T	ENST00000300061.2	+	13	1784	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	547					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGCGTCATCGAGATCATCG	0.552000													15	82					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100420204	100420204	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:100420204A>T	ENST00000358173.3	-	4	965	c.497T>A	c.(496-498)cTg>cAg	p.L166Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.L166Q|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	166					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGCGGTCCCAGACGCAGCGT	0.672000													21	30					0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													159	189					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50212287	50212287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:50212287C>T	ENST00000340813.6	-	2	460	c.31G>A	c.(31-33)Gga>Aga	p.G11R	CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000285273.4_Intron|CA10_ENST00000451037.2_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			tctgtgaatccacatcctgaa	0.567000													26	54					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173434	48173434	+	Silent	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr4:48173434A>G	ENST00000381501.3	-	4	433	c.276T>C	c.(274-276)ttT>ttC	p.F92F		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GACTAGGTGCAAAAATGTAAA	0.353000													11	70					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133674036	133674036	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:133674036C>T	ENST00000310926.4	-	4	672	c.397_splice	c.e4-1	p.G133_splice	SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	133					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGCTGTTGTTCCCTGCAACGA	0.632000													18	45					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489215	65489215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:65489215G>A	ENST00000261883.4	-	9	3575	c.3409C>T	c.(3409-3411)Cca>Tca	p.P1137S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1137					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACTGGGCTGGGGTGCTTTGG	0.622000													9	89					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552674	69552674	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:69552674A>G	ENST00000337103.4	+	7	2428	c.836A>G	c.(835-837)aAc>aGc	p.N279S	C8orf34_ENST00000539993.1_Missense_Mutation_p.N304S|C8orf34_ENST00000325233.3_Missense_Mutation_p.N48S|C8orf34_ENST00000518698.1_Missense_Mutation_p.N390S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	304					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCAAATTTAACCAAGGCCGT	0.403000													18	93					0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219856824	219856824	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:219856824C>T	ENST00000295728.2	-	2	539	c.303_splice	c.e2+1	p.A101_splice	CRYBA2_ENST00000392096.2_Splice_Site_p.A101_splice	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	101	Connecting peptide.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGCTCACCGCGCAGAGCA	0.622000													8	46					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6861216	6861216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:6861216G>A	ENST00000203630.5	-	3	699	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	MLF2_ENST00000542154.1_Missense_Mutation_p.P19S|MLF2_ENST00000435120.1_Missense_Mutation_p.P19S|MLF2_ENST00000539187.1_Missense_Mutation_p.P19S			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	19					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						ATAGCAAAGGGATCCCTGTGG	0.522000											OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	57					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80643716	80643716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:80643716G>A	ENST00000307624.3	-	6	558	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	177	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCCCCTTGTGGAAACCGCTCC	0.502000													56	331					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980881	121980881	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:121980881C>T	ENST00000498619.1	+	4	1437	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CASR_ENST00000296154.5_Silent_p.F333F|CASR_ENST00000490131.1_Silent_p.F333F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	333					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCGGGAATTCCTGAAGAAGG	0.537000													29	55					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757311	116757311	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:116757311C>T	ENST00000331677.3	+	7	2124	c.1680C>T	c.(1678-1680)ctC>ctT	p.L560L	DSE_ENST00000537543.1_Silent_p.L579L|DSE_ENST00000452085.3_Silent_p.L560L|DSE_ENST00000359564.2_Silent_p.L560L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	560					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCTCATCCTCCTACATCCAC	0.498000													16	13					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21742349	21742349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:21742349C>T	ENST00000328843.6	+	38	6254	c.6223C>T	c.(6223-6225)Cgt>Tgt	p.R2075C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2068C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2075	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						CTGGGGACTTCGTGCTATTAA	0.383000									Kartagener syndrome				10	51					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4210065	4210065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:4210065C>T	ENST00000600132.1	+	12	1157	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ANKRD24_ENST00000318934.4_Missense_Mutation_p.S294F|ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Missense_Mutation_p.S384F	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	294										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AACTCTATGTCCAGCCATGGA	0.667000													4	13					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404608	124404608	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:124404608G>A	ENST00000303921.2	-	1	1073	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	141						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAGCTGGAGGGCCGTGGGGT	0.637000													77	296					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110140	106110140	+	RNA	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:106110140C>T	ENST00000390545.2	-	0	477																											ACCTCCACGCCGTCCACGTAC	0.612000													34	405					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28141946	28141946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr13:28141946C>T	ENST00000316334.3	-	4	815	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	229							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGTGATTTCTCCTTCTGGTAA	0.368000													69	45					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446465	43446465	+	Silent	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:43446465T>A	ENST00000500337.2	-	5	838	c.507A>T	c.(505-507)ccA>ccT	p.P169P	C5orf28_ENST00000510130.1_Silent_p.P67P|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Silent_p.P38P|C5orf28_ENST00000512085.1_Silent_p.P169P|C5orf28_ENST00000397080.3_Silent_p.P169P			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	169						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					TTTTTCCAAATGGGCATATCC	0.393000													27	129					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40946892	40946892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:40946892C>T	ENST00000246914.5	+	14	2474	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	818					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AACCCATTTTCCCCTGGAACC	0.587000													29	114					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109854549	109854549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:109854549G>A	ENST00000424296.2	-	28	3551	c.3475C>T	c.(3475-3477)Cgc>Tgc	p.R1159C	AK9_ENST00000355283.1_Missense_Mutation_p.R238C|AK9_ENST00000341338.6_Missense_Mutation_p.R238C	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		GGAAGGAGGCGATCAAAAATA	0.383000													15	29					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61147183	61147183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:61147183C>G	ENST00000295025.7	+	8	1181	c.861C>G	c.(859-861)taC>taG	p.Y287*	REL_ENST00000394479.3_Nonsense_Mutation_p.Y287*	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	287	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAGATACTTACGGCAATAAAG	0.308000			A		Hodgkin Lymphoma								13	48					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291911	61291911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:61291911G>A	ENST00000263846.4	-	6	1043	c.716C>T	c.(715-717)tCc>tTc	p.S239F	SYT7_ENST00000535826.1_Missense_Mutation_p.S358F|SYT7_ENST00000542670.1_Missense_Mutation_p.S447F|SYT7_ENST00000540677.1_Missense_Mutation_p.S314F|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.S283F|SYT7_ENST00000539008.1_Missense_Mutation_p.S522F	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	239	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGGGGATGGACACCTCCCC	0.572000													30	34					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409199	1409199	+	Silent	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:1409199G>T	ENST00000270349.9	-	11	1567	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	SLC6A3_ENST00000453492.2_Silent_p.A480A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	480					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGACGTGCCGGCTGCAAAAT	0.592000													5	68					0.217242	0.217242	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32487710	32487710	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr22:32487710G>T	ENST00000266088.4	+	11	1491	c.1241G>T	c.(1240-1242)cGc>cTc	p.R414L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R287L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	414					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAAGGTCCGCAAGAGAGCA	0.522000													20	114					8.10497e-08	8.29795e-08	1	1	0
EVL	51466	broad.mit.edu	37	14	100604097	100604097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:100604097G>A	ENST00000544450.2	+	11	1347	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	EVL_ENST00000402714.2_Missense_Mutation_p.S349N|EVL_ENST00000392920.3_Missense_Mutation_p.S351N			Q9UI08	EVL_HUMAN	Enah/Vasp-like	349	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GTGGCAAAGAGCCCCGAAGCT	0.622000													55	100					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721303	52721303	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:52721303G>T	ENST00000394799.2	+	3	288	c.78G>T	c.(76-78)aaG>aaT	p.K26N	GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Missense_Mutation_p.K38N	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	38	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGGCTAAAAAGCGGGGTCACA	0.393000													15	94					1.3612e-06	1.38853e-06	1	1	0
SPINT2	10653	broad.mit.edu	37	19	38782538	38782538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:38782538G>A	ENST00000301244.7	+	7	1086	c.651G>A	c.(649-651)atG>atA	p.M217I	SPINT2_ENST00000454580.3_Missense_Mutation_p.M160I|SPINT2_ENST00000587090.1_Missense_Mutation_p.M167I|CTB-102L5.4_ENST00000591889.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	217					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGCCTCCATGGTCTACCTGA	0.627000													15	35					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183711359	183711359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:183711359G>A	ENST00000304685.3	+	2	528	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	RGL1_ENST00000536277.1_Missense_Mutation_p.E23K|RGL1_ENST00000367531.1_Missense_Mutation_p.E23K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CACCAAGGTAGAAAGCACGGG	0.453000													24	102					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999265	145999265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr8:145999265G>A	ENST00000429371.2	-	6	1159	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y	ZNF34_ENST00000343459.4_Missense_Mutation_p.H357Y	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TCTCCGGTGTGGATTCTCTGG	0.512000													12	67					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147624	6147624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:6147624G>A	ENST00000588304.1	+	3	531	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	ACSBG2_ENST00000586696.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E79K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E79K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	79					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAAAGTGGGAAATTCTGAA	0.433000													38	233					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545543	82545543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:82545543G>A	ENST00000423517.2	-	7	12096	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L	PCLO_ENST00000437081.1_Missense_Mutation_p.S640L|PCLO_ENST00000333891.8_Missense_Mutation_p.S3920L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3851					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATAAGGTGAAACTTGCTG	0.463000													135	558					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167461	97167461	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:97167461T>C	ENST00000389672.5	+	7	1819	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	499						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCCAGTGTCATCATCACA	0.443000													16	113					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374696	180374696	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:180374696C>T	ENST00000231229.4	+	4	1092	c.858C>T	c.(856-858)ctC>ctT	p.L286L	BTNL8_ENST00000508408.1_Silent_p.L286L|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	143	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGATGCTCCCACATCCAG	0.493000													208	237					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995075	51995075	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:51995075C>T	ENST00000291707.3	-	8	1663	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L	SIGLEC12_ENST00000598614.1_Silent_p.L418L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	536					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGATTCAATCAGGGGTCCCT	0.617000													19	35					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72776269	72776269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr18:72776269G>A	ENST00000299687.5	+	8	6592	c.6592G>A	c.(6592-6594)Gaa>Aaa	p.E2198K		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGACTCGCAGGAACTCCTGCA	0.692000													6	11					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462834	73462834	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr7:73462834G>A	ENST00000252034.7	+	15	1146	c.745_splice	c.e15-1	p.G249_splice	ELN_ENST00000358929.4_Splice_Site_p.G249_splice|ELN_ENST00000380553.4_Splice_Site_p.G132_splice|ELN_ENST00000380584.4_Splice_Site_p.G235_splice|ELN_ENST00000414324.1_Splice_Site_p.G244_splice|ELN_ENST00000380562.4_Splice_Site_p.G249_splice|ELN_ENST00000380575.4_Splice_Site_p.G239_splice|ELN_ENST00000380576.5_Splice_Site_p.G249_splice|ELN_ENST00000357036.5_Splice_Site_p.G254_splice|ELN_ENST00000445912.1_Splice_Site_p.G249_splice|ELN_ENST00000320399.6_Splice_Site_p.G249_splice|ELN_ENST00000320492.7_Splice_Site_p.G213_splice|ELN_ENST00000429192.1_Splice_Site_p.G254_splice|ELN_ENST00000458204.1_Splice_Site_p.G239_splice	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	249	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCCCCCAGGGGTTGGCCCCC	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						58	233					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76501416	76501416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:76501416C>T	ENST00000389840.5	-	31	5027	c.4903G>A	c.(4903-4905)Gag>Aag	p.E1635K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1636K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCATGTACTCGTCCTCCTTG	0.562000													8	61					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518442	156518442	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:156518442C>G	ENST00000361170.2	-	17	1934	c.1924G>C	c.(1924-1926)Gta>Cta	p.V642L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	642					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGGAACTACCCCTCGAAGG	0.607000													13	131					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169521965	169521965	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:169521965T>A	ENST00000522526.2	-	6	970	c.533A>T	c.(532-534)aAt>aTt	p.N178I	LRRC34_ENST00000522830.1_Missense_Mutation_p.N117I|LRRC34_ENST00000446859.1_Missense_Mutation_p.N178I|LRRC34_ENST00000316515.7_Missense_Mutation_p.N165I|LRRC34_ENST00000524327.1_5'UTR			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	165										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGAGTCCGATTCTTCTGAAA	0.289000													6	56					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129777485	129777485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr6:129777485G>A	ENST00000421865.2	+	48	6762	c.6713G>A	c.(6712-6714)gGg>gAg	p.G2238E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2238	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGAACTGGGAGAAATGGA	0.433000													45	71					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926570	130926570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:130926570C>T	ENST00000261655.4	-	8	1439	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E334K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E334K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	426	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AACTCCTCCTCGTTGAGGAAG	0.577000													31	66					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462845	224462845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:224462845C>T	ENST00000305409.2	-	2	1388	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	386					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACAGGAAGGTCAAGCTCCCGC	0.478000													28	78					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77572085	77572085	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr14:77572085A>G	ENST00000361786.2	+	2	351	c.34A>G	c.(34-36)Aga>Gga	p.R12G	RP11-463C8.4_ENST00000557752.1_Missense_Mutation_p.R12G|KIAA1737_ENST00000555611.1_Missense_Mutation_p.R12G|KIAA1737_ENST00000555437.1_Missense_Mutation_p.R12G	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	12										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGAGAGCCCCAGAAGACTCTC	0.483000													28	173					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531794	89531794	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:89531794T>C	ENST00000329758.1	-	8	1191	c.863A>G	c.(862-864)cAt>cGt	p.H288R	TRIM49_ENST00000532501.2_Missense_Mutation_p.H211R	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	288	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGAGTAATATGCACTGCAAA	0.303000													5	19					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489214	65489214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr15:65489214G>A	ENST00000261883.4	-	9	3576	c.3410C>T	c.(3409-3411)cCa>cTa	p.P1137L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1137					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGACTGGGCTGGGGTGCTTTG	0.622000													8	90					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132648397	132648397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:132648397C>T	ENST00000265342.7	-	6	925	c.676G>A	c.(676-678)Gat>Aat	p.D226N		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	226						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTTGTAATCGTCAAATCGG	0.537000													6	47					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193104526	193104526	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:193104526T>C	ENST00000367435.3	+	4	497	c.313T>C	c.(313-315)Tcg>Ccg	p.S105P		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	105					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTCAGCAACATCGGCAAGTAT	0.333000													9	101					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58199110	58199110	+	Silent	SNP	C	C	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr19:58199110C>A	ENST00000282296.5	+	3	1652	c.1467C>A	c.(1465-1467)atC>atA	p.I489I	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Silent_p.I473I|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCAAATTTATCCTGATTCAAC	0.428000													19	152					2.39187e-15	2.55651e-15	1	1	0
TEX35	84066	broad.mit.edu	37	1	178489985	178489985	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr1:178489985C>T	ENST00000367641.3	+	7	578	c.519C>T	c.(517-519)ccC>ccT	p.P173P	TEX35_ENST00000319416.2_Silent_p.P173P|TEX35_ENST00000367639.1_Silent_p.P181P|TEX35_ENST00000258298.2_Silent_p.P97P|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367643.3_Silent_p.P173P					testis expressed 35																		CACTGGATCCCCTTCATCACT	0.572000													8	46					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507144	64507144	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:64507144C>T	ENST00000377494.1	-	6	1582	c.660G>A	c.(658-660)cgG>cgA	p.R220R	RASGRP2_ENST00000377497.3_Silent_p.R220R|RASGRP2_ENST00000354024.3_Silent_p.R220R|RASGRP2_ENST00000394432.3_Silent_p.R220R			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	220	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGACCAGGGCCCGCTGCGGGG	0.637000													44	88					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169404121	169404121	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:169404121G>A	ENST00000305747.6	+	2	773	c.186G>A	c.(184-186)ccG>ccA	p.P62P	CERS6_ENST00000392687.4_Silent_p.P62P	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	62						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TAGCCAAACCGTGCGCCATAG	0.388000													13	47					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661349	113661349	+	RNA	SNP	A	A	G	rs1713675	by1000genomes	TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:113661349A>G	ENST00000393544.2	+	0	1397																											GGGTATAGATAACCTGGAAAC	0.478000													9	159					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716187	13716187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:13716187G>A	ENST00000279593.3	-	13	4194	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1329					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCATGAATCGGCCCTTGTCT	0.597000													26	70					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44453161	44453161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr20:44453161C>T	ENST00000372557.1	-	4	334	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TNNC2_ENST00000372555.3_Missense_Mutation_p.A58T			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	58	EF-hand 1.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				TCGATGATGGCGTCCAGCTCC	0.637000													16	116					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230548	56230548	+	Silent	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr11:56230548G>A	ENST00000279791.1	-	1	329	c.330C>T	c.(328-330)gtC>gtT	p.V110V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCAGGATATAGACCTCCACGT	0.468000													46	51					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46339063	46339063	+	Silent	SNP	A	A	G			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr12:46339063A>G	ENST00000369367.3	-	6	665	c.432T>C	c.(430-432)agT>agC	p.S144S	SCAF11_ENST00000419565.2_Silent_p.S144S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	144					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAACTTTTGCACTTAATAGAT	0.294000													38	56					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979848	89979848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:89979848G>A	ENST00000405460.2	+	28	6206	c.6110G>A	c.(6109-6111)gGa>gAa	p.G2037E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2037					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			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)		GCAACTCAAGGAAGAGACTAT	0.398000													16	75					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826219	48826219	+	Missense_Mutation	SNP	C	C	T	rs141006798		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:48826219C>T	ENST00000218176.3	-	1	1757	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	154						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCGGCCTGCTCTGCCTCCTCA	0.667000													12	29					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59996818	59996818	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr17:59996818T>A	ENST00000444766.3	-	5	691	c.616A>T	c.(616-618)Aat>Tat	p.N206Y	INTS2_ENST00000251334.6_Missense_Mutation_p.N198Y	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	206					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAGGCACCATTTCTAACATGT	0.388000													12	16					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487946	121487946	+	Silent	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr5:121487946C>T	ENST00000296600.4	+	2	644	c.261C>T	c.(259-261)atC>atT	p.I87I	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	87						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCCCTGTGATCCCGGCCCGCA	0.498000													23	162					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920714	227920714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:227920714C>T	ENST00000396625.3	-	30	2870	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G888E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	888	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTGGGATTCCTGGGAGGCC	0.607000													30	57					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46563038	46563038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:46563038G>A	ENST00000395905.3	-	8	1432	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	LRRC2_ENST00000296144.3_Missense_Mutation_p.A347V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	347										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTCAATATAGGCTTTCATAAC	0.318000													16	34					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475300	32475300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:32475300delT	ENST00000404025.2	-	5	2121	c.1633delA	c.(1633-1635)ttfs	p.I545fs	NLRC4_ENST00000402280.1_Frame_Shift_Del_p.I545fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.I545fs|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	545					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTTCAGAATTTCTTGCTCA	0.433													36	121	---	---	---	---					
THADA	63892	broad.mit.edu	37	2	43783692	43783693	+	In_Frame_Ins	INS	-	-	TCCTAGAAT			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr2:43783692_43783693insTCCTAGAAT	ENST00000405006.4	-	17	2816_2817	c.2465_2466insATTCTAGGA	c.(2464-2466)gtc>gATTCTAGGAtc	p.822_822V>DSRI	THADA_ENST00000405975.2_In_Frame_Ins_p.822_822V>DSRI|THADA_ENST00000330266.7_In_Frame_Ins_p.532_532V>DSRI|THADA_ENST00000404790.1_In_Frame_Ins_p.822_822V>DSRI|THADA_ENST00000402360.2_In_Frame_Ins_p.822_822V>DSRI|THADA_ENST00000415080.2_In_Frame_Ins_p.532_532V>DSRI	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	822							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTTCCCCGAATCCTAGAATAA	0.396													13	81	---	---	---	---					
OR5AC2	81050	broad.mit.edu	37	3	97806283	97806284	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr3:97806283_97806284insCT	ENST00000358642.2	+	1	267_268	c.267_268insCT	c.(265-270)gaagacfs	p.ED89fs		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTCTTAGACAAGACTGCAAT	0.426													14	369	---	---	---	---					
NFX1	4799	broad.mit.edu	37	9	33295316	33295330	+	In_Frame_Del	DEL	GAGGGTTGACCAAGA	GAGGGTTGACCAAGA	-	rs139634183		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:33295316_33295330delGAGGGTTGACCAAGA	ENST00000379540.3	+	2	986_1000	c.924_938delGAGGGTTGACCAAGA	c.(922-939)agg>ag	p.RRVDQE308del	NFX1_ENST00000379521.4_In_Frame_Del_p.RRVDQE308del|NFX1_ENST00000318524.6_In_Frame_Del_p.RRVDQE308del	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	308					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGTCTTCCAGGAGGGTTGACCAAGAGAAATGCACT	0.470													7	67	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442342	37442343	+	In_Frame_Ins	INS	-	-	CTA	rs138735984		TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr9:37442342_37442343insCTA	ENST00000307750.4	-	2	394_395	c.206_207insTAG	c.(205-207)aga>aTAGga	p.69_69R>IG		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	69	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCACCACCTCGCTATCCAGCTG	0.540													14	186	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88643999	88643999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chr16:88643999delG	ENST00000301011.5	+	2	668	c.468delG	c.(466-468)gafs	p.E157fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.E157fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	157						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGATGATGAGGAGAAAGGCG	0.582													16	32	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123171393	123171394	+	Frame_Shift_Ins	INS	-	-	GATA			TCGA-EE-A29T-06A-11D-A197-08	TCGA-EE-A29T-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8ffb5b-2304-45e0-be3d-fc6b6a30b5c5	fc3c8fc4-f3b7-4499-baf7-0e1c1151b5a7	g.chrX:123171393_123171394insGATA	ENST00000371160.1	+	6	595_596	c.305_306insGATA	c.(304-306)tatfs	p.Y102fs	STAG2_ENST00000371144.3_Frame_Shift_Ins_p.Y102fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.Y33fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.Y102fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.Y102fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.Y102fs			Q8N3U4	STAG2_HUMAN	stromal antigen 2	102					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTAGATGATTGGATAGAATCAT	0.307													63	163	---	---	---	---