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
ZNF578	147660	broad.mit.edu	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:53014631C>T	ENST00000421239.2	+	6	1241	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428000													42	93					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83357100	83357100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:83357100C>T	ENST00000262752.2	-	18	1728	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G574E|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	574	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCCATTTTCTCCTCGAAGTTG	0.368000													5	16					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686584	108686584	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:108686584G>A	ENST00000397688.2	-	3	519	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CMKLR1_ENST00000552995.1_Silent_p.F50F|CMKLR1_ENST00000550402.1_Silent_p.F52F|CMKLR1_ENST00000312143.7_Silent_p.F52F|CMKLR1_ENST00000412676.1_Silent_p.F52F	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	52					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATCCCGAGGAAGCAGACGA	0.502000													58	69					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97278218	97278218	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:97278218A>T	ENST00000599854.1	-	8	1201	c.734T>A	c.(733-735)gTg>gAg	p.V245E	KANSL3_ENST00000441706.2_Missense_Mutation_p.V245E|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.V126E|KANSL3_ENST00000431828.1_Missense_Mutation_p.V332E	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	332																	TTTGCTTCTCACTGCCCCAAT	0.507000													104	122					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	C	T	rs141207947		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:194063279C>T	ENST00000323830.3	-	2	242	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_ENST00000429275.1_Silent_p.T51T	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000													54	99					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282216	282216	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:282216T>C	ENST00000269812.3	-	5	684	c.635A>G	c.(634-636)tAc>tGc	p.Y212C	PPAP2C_ENST00000327790.3_Missense_Mutation_p.Y233C|PPAP2C_ENST00000434325.2_Missense_Mutation_p.Y156C	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	212					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCGGGTGTAGCCCACGTA	0.592000													32	30					0	0	1	0	0
GNGT1	2792	broad.mit.edu	37	7	93540176	93540176	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:93540176C>T	ENST00000248572.5	+	3	319	c.171C>T	c.(169-171)atC>atT	p.I57I	GNGT1_ENST00000429473.1_Silent_p.I57I|GNGT1_ENST00000455502.1_3'UTR	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	57					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAAAGGGCATCCCAGAGGACA	0.388000													31	86					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340310	55340310	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:55340310C>T	ENST00000314634.3	+	1	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	236					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)				AAAGCACTTTCCACATGTGTC	0.408000													38	56					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23703314	23703314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:23703314C>T	ENST00000256797.4	-	19	2658	c.2490G>A	c.(2488-2490)tgG>tgA	p.W830*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.W730*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	782	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTCTGCTCCAAAAGAAGG	0.587000													206	272					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659657	3659657	+	RNA	SNP	G	G	A	rs2298222	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:3659657G>A	ENST00000452079.1	-	0	1813				TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						AGAGGCCGCCGGGAACAGGCA	0.577000													4	11					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185114	53185114	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:53185114G>A	ENST00000417996.2	-	7	1485	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	KRT3_ENST00000309505.3_Silent_p.L471L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	471	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCTGTAGAGCAGCCTGC	0.607000													55	31					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787063	121787063	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:121787063G>A	ENST00000261367.7	+	12	4090	c.2662G>A	c.(2662-2664)Ggc>Agc	p.G888S	CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G841S|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G399S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G443S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G475S|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G781S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G888S|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	841					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)		CAAAGATAAGGGCAGGACTCT	0.478000													46	97					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114985	23114985	+	RNA	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:23114985G>A	ENST00000390313.2	+	0	266																											TCCAACCCAGGGAACACCGCC	0.572000													4	54					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264790	51264790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:51264790C>T	ENST00000266037.9	+	16	1477	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	485	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)		AGTAATAGTCCTCGCTGGGGA	0.473000													68	98					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891242	2891242	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr18:2891242G>A	ENST00000254528.3	+	4	1276	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	373					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGGGAGAAGGAAACAAGCCT	0.502000													38	112					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341061	121341061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121341061G>A	ENST00000338040.4	+	3	1199	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	262					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAGGAGAGGGCGCTCCCAAA	0.488000													30	33					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316245	151316245	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:151316245G>A	ENST00000290524.4	-	9	847	c.669C>T	c.(667-669)atC>atT	p.I223I	RFX5_ENST00000452513.2_Silent_p.I183I|RFX5_ENST00000452671.2_Silent_p.I223I|RFX5_ENST00000368870.2_Silent_p.I223I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	223						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGACCTCAACGATGGAACTGA	0.592000													50	70					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747764	61747764	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:61747764G>A	ENST00000577390.1	-	10	2589	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	CDH8_ENST00000299345.6_Silent_p.F545F|CDH8_ENST00000577730.1_Silent_p.F545F|CDH8_ENST00000580044.1_5'UTR	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	545	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTGATGGTGAAATTCGGAT	0.323000													19	32					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583499	31583499	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:31583499C>T	ENST00000356173.3	-	8	552	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	SUN5_ENST00000375523.3_Missense_Mutation_p.E129K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	154					spermatogenesis			p.E154K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTGGATTTCCCCACTGTGA	0.507000													102	146					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	C	T	rs137995645	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr13:113798367C>T	ENST00000375559.3	+	6	743	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_ENST00000409306.1_Silent_p.I235I|F10_ENST00000375551.3_Silent_p.I235I	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000													62	102					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748622	96748622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96748622G>A	ENST00000260682.6	+	9	1322	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	437					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)	ATTTGTGTGGGAGAAGCCCTG	0.453000													134	110					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906102	120906102	+	RNA	SNP	G	G	A	rs115198068	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:120906102G>A	ENST00000430394.1	+	0	75					NR_027337.1																						AGGCTGTTACGAGAGTGCAGA	0.542000													7	134					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26400778	26400778	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:26400778C>T	ENST00000335473.7	+	42	6677	c.6427C>T	c.(6427-6429)Cct>Tct	p.P2143S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P2143S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P2144S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2143						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TATGAGGACTCCTTCTCGACA	0.547000													61	110					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40981102	40981102	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:40981102C>T	ENST00000372703.1	+	2	1960	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	EXO5_ENST00000296380.4_Missense_Mutation_p.H296Y|EXO5_ENST00000358527.2_Missense_Mutation_p.H296Y					exonuclease 5																		TGAGTATATCCACCAAGAGAC	0.468000													72	117					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903859	37903859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:37903859C>T	ENST00000403299.1	-	7	1384	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CARD10_ENST00000251973.5_Missense_Mutation_p.E390K|CARD10_ENST00000406271.3_Missense_Mutation_p.E104K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	390					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTCTCAATCTCCTCCAGTTGG	0.612000													100	137					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630382	74630382	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:74630382G>A	ENST00000358632.4	-	9	1718	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	CYP11A1_ENST00000268053.6_Silent_p.L499L|CYP11A1_ENST00000419019.2_Silent_p.L341L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	499					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCATCAGAATGAGGTTGAATG	0.532000													37	75					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411281	98411281	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:98411281C>T	ENST00000339364.5	-	5	959	c.840G>A	c.(838-840)gtG>gtA	p.V280V	PIK3AP1_ENST00000371110.2_Silent_p.V102V|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	280	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACATGAATTCCACAGGATTCG	0.408000													66	63					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244228	42244228	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:42244228C>T	ENST00000327628.5	+	13	2128	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.I502I|TRAK1_ENST00000396175.1_Silent_p.I518I|TRAK1_ENST00000341421.3_Silent_p.I518I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	576					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGCTCCAGATCGTGAAGCCGC	0.652000													32	45					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157659663	157659663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:157659663C>T	ENST00000368184.3	-	10	2026	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.G579R	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	579						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCACCAGCCCCGTGATTCCC	0.567000													35	43					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937920	75937920	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:75937920C>T	ENST00000307428.7	+	2	541	c.329C>T	c.(328-330)tCg>tTg	p.S110L	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	110					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCTGGGTTCTCGTCAACAAGC	0.547000													82	125					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	26					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249110787	249110787	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:249110787C>T	ENST00000366472.5	-	4	1550	c.321G>A	c.(319-321)ggG>ggA	p.G107G	SH3BP5L_ENST00000411742.2_Silent_p.G75G|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	107										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGATGCAGCTCCCCAAGTGGG	0.587000													6	62					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109252269	109252269	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:109252269G>A	ENST00000220849.5	-	3	303	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	81	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGCTGTTTCAGTTGTGCAACC	0.378000													39	95					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183792896	183792896	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:183792896C>A	ENST00000360982.2	-	30	3905	c.3147G>T	c.(3145-3147)ttG>ttT	p.L1049F	NCKAP1_ENST00000361354.3_Missense_Mutation_p.L1043F|NCKAP1_ENST00000478449.1_5'UTR	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1043					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTGTAAACAAAGCTGCAG	0.368000													24	54					3.65163e-15	3.77135e-15	1	1	0
THNSL1	79896	broad.mit.edu	37	10	25313374	25313374	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:25313374C>A	ENST00000524413.1	+	3	1569	c.1222C>A	c.(1222-1224)Cct>Act	p.P408T	THNSL1_ENST00000376356.4_Missense_Mutation_p.P408T			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	408					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TGCATTTTTTCCTGAGAATGG	0.388000													50	106					4.18559e-23	4.44425e-23	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048836	9048836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:9048836C>T	ENST00000397910.4	-	5	32998	c.32795G>A	c.(32794-32796)gGa>gAa	p.G10932E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	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						GGTCACCACTCCTGGTACCCC	0.493000													75	112					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625942	54625942	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:54625942C>T	ENST00000321030.4	+	5	738	c.389C>T	c.(388-390)cCc>cTc	p.P130L	PRPF31_ENST00000391755.1_Missense_Mutation_p.P130L|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130L|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	130					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTTGGTCCCCAATGCACTG	0.572000													98	147					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641808	142641808	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:142641808C>T	ENST00000355265.2	-	12	1809	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	445					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A445A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATCCCGGATCGCAGTGAATA	0.602000													25	21					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055739	167055739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:167055739C>T	ENST00000375387.4	-	27	5753	c.5413G>A	c.(5413-5415)Gat>Aat	p.D1805N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1804N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1804						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTGCAAAATCAGAGAGTTTA	0.473000													76	115					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424275	56424275	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:56424275G>T	ENST00000588751.1	-	5	932	c.908C>A	c.(907-909)cCa>cAa	p.P303Q	NLRP13_ENST00000342929.3_Missense_Mutation_p.P303Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	303	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGCTTCTCTGGTTGAGACAT	0.423000													42	74					7.63091e-17	7.96819e-17	1	1	0
SCAF1	58506	broad.mit.edu	37	19	50155945	50155945	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:50155945G>C	ENST00000360565.3	+	7	2423	c.2299G>C	c.(2299-2301)Ggg>Cgg	p.G767R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	767	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCGGGAGAAGGGGTCTCGTCG	0.701000													6	2					0	0	1	0	0
SEPT3	55964	broad.mit.edu	37	22	42388750	42388750	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:42388750C>A	ENST00000396425.3	+	8	979	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	SEPT3_ENST00000396426.3_Missense_Mutation_p.P283Q|SEPT3_ENST00000291236.11_Missense_Mutation_p.P219Q|SEPT3_ENST00000406029.1_Missense_Mutation_p.P219Q|SEPT3_ENST00000328414.8_3'UTR	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	283					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CGAAAAACTCCATGGGGGATC	0.493000													9	14					9.70103e-10	9.91078e-10	1	1	0
PIGS	94005	broad.mit.edu	37	17	26881367	26881367	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr17:26881367G>A	ENST00000308360.7	-	12	1914	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PIGS_ENST00000543734.1_Silent_p.F452F|PIGS_ENST00000395346.2_Silent_p.F505F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	513					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGTCATCAGGGAAATAAAGGA	0.557000													78	99					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262884	121262884	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:121262884G>A	ENST00000297848.3	+	22	2901	c.2631G>A	c.(2629-2631)gtG>gtA	p.V877V	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V877V|COL14A1_ENST00000247781.3_Silent_p.V782V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	877	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAACGTTTGTGGGAGCTGACA	0.428000													40	101					0	0	1	0	0
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522000													3	7					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55028697	55028697	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:55028697C>T	ENST00000374987.3	+	3	321	c.255C>T	c.(253-255)ttC>ttT	p.F85F	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	85					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TAGCCACCTTCTGTAAGGACA	0.542000								Other BER factors					35	3					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175014	57175014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:57175014C>T	ENST00000537055.2	-	2	1784	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTTTCTCCTCCCTGTGAGAG	0.597000													77	102					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36666254	36666254	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:36666254C>T	ENST00000399881.3	+	7	712	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	225						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGAAGTTTTCCAAACTGCTGT	0.438000													8	5					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138594141	138594141	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:138594141G>T	ENST00000298480.5	+	1	111	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F	KCNT1_ENST00000371757.2_Missense_Mutation_p.V13F|KCNT1_ENST00000487664.1_Missense_Mutation_p.V13F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	13						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		cccggggggcgtctgccggga	0.731000													14	22					7.93312e-07	8.06107e-07	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71360146	71360146	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:71360146C>T	ENST00000373677.1	+	2	2912	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	NHSL2_ENST00000540800.1_Silent_p.L916L|NHSL2_ENST00000535692.1_Silent_p.L550L|NHSL2_ENST00000510661.1_Silent_p.L685L			F5H593	F5H593_HUMAN	NHS-like 2	916										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGAGACCACTCCCTCAAGACA	0.542000													29	8					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50171586	50171586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:50171586C>T	ENST00000284509.6	-	24	2909	c.2768G>A	c.(2767-2769)gGg>gAg	p.G923E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G923E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	923					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCAAAAATCCCCATGGCTAA	0.318000													10	23					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:151138714G>A	ENST00000370325.1	-	2	270	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_ENST00000370328.3_Missense_Mutation_p.R73C|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547000													132	24					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906101	120906101	+	RNA	SNP	C	C	A	rs114418656	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:120906101C>A	ENST00000430394.1	+	0	74					NR_027337.1																						AAGGCTGTTACGAGAGTGCAG	0.542000													7	131					8.12818e-05	8.21512e-05	1	1	0
SPSB4	92369	broad.mit.edu	37	3	140785560	140785560	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:140785560A>G	ENST00000310546.2	+	2	1358	c.614A>G	c.(613-615)aAg>aGg	p.K205R		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	205	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGAGGTCTCAAGGGCAAGAAG	0.622000													36	41					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294202	124294202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:124294202G>A	ENST00000356130.3	-	1	587	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATGGGTGCTGGTGCAGGAGAG	0.488000													20	6					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5042629	5042629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:5042629C>T	ENST00000455190.1	-	4	418	c.393G>A	c.(391-393)tgG>tgA	p.W131*	AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000380753.4_Intron	NM_001135241.2	NP_001128713.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	0					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)	GGCTCTTCTTCCATGTTAAAA	0.338000													8	4					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331954	83331954	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:83331954G>A	ENST00000261722.3	-	21	2679	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	AP3B2_ENST00000535359.1_Silent_p.P843P|AP3B2_ENST00000535348.1_Silent_p.P792P|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	824					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAATTGCTGGGGGAGACACAG	0.602000													12	24					0	0	1	0	0
CDPF1	150383	broad.mit.edu	37	22	46641032	46641032	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:46641032G>A	ENST00000314567.3	-	4	752	c.329C>T	c.(328-330)gCt>gTt	p.A110V	CDPF1_ENST00000404583.1_Missense_Mutation_p.A105V|CDPF1_ENST00000475605.1_5'UTR|CDPF1_ENST00000404744.1_3'UTR	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1																		CTTTGATGGAGCTTTCCTTTT	0.557000													44	78					0	0	1	0	0
RPP21	79897	broad.mit.edu	37	6	30314530	30314530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:30314530C>T	ENST00000436442.2	+	5	418	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	RPP21_ENST00000433076.2_Silent_p.S144S|RPP21_ENST00000428040.2_Silent_p.S159S|TRIM39-RPP21_ENST00000513556.1_Silent_p.S397S|RPP21_ENST00000442966.2_Silent_p.S136S					ribonuclease P/MRP 21kDa subunit											endometrium(2)|ovary(1)|prostate(1)	4						CAGCCCACTCCATTTCAGACC	0.433000													137	47					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965349	25965349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:25965349G>A	ENST00000435504.4	-	13	4150	c.3857C>T	c.(3856-3858)cCc>cTc	p.P1286L	ASXL2_ENST00000336112.4_Missense_Mutation_p.P1258L|ASXL2_ENST00000404843.1_Missense_Mutation_p.P769L|ASXL2_ENST00000272341.4_Missense_Mutation_p.P769L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAAGCTCGGGGCTGCTACG	0.532000													21	17					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													46	54					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855211	70855211	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr14:70855211G>A	ENST00000256366.4	-	2	258	c.177C>T	c.(175-177)ctC>ctT	p.L59L	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CACCCTCCTGGAGCCGCCCAT	0.567000													24	38					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086346	171086346	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:171086346C>T	ENST00000367755.4	+	9	1474	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	FMO3_ENST00000392085.2_Missense_Mutation_p.P455S|FMO3_ENST00000538429.1_Missense_Mutation_p.P392S|FMO3_ENST00000542847.1_Missense_Mutation_p.P435S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	455					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTCACAGATCCCAAATTGGC	0.493000													43	67					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652434	41652434	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:41652434G>A	ENST00000313860.7	+	13	1744	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	LIMCH1_ENST00000512946.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G405R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G949R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G398R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G405R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G410R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G393R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G398R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G552R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	564					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGTGTGAATGGAGAGACGGT	0.458000													20	52					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266492	31266492	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:31266492C>T	ENST00000332585.6	+	3	1034	c.930C>T	c.(928-930)tcC>tcT	p.S310S	OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.S145S|OSBP2_ENST00000446658.2_Silent_p.S310S|OSBP2_ENST00000407373.1_Silent_p.S137S|OSBP2_ENST00000437268.2_Silent_p.S52S|OSBP2_ENST00000382310.3_Silent_p.S310S	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	310					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAATCTTTCCCTGAAGTTAG	0.562000													33	45					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141628	14141628	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:14141628C>T	ENST00000431365.2	+	2	354	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	99						extracellular region	hormone activity			endometrium(1)|lung(4)	5						CACCCCAGGCCTTTTACAGGG	0.642000													68	64					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131765234	131765234	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:131765234C>A	ENST00000372577.2	+	37	4297	c.4276C>A	c.(4276-4278)Cac>Aac	p.H1426N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1426					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGTGGGTGTCCACCAGGAGCG	0.592000													32	37					8.16721e-17	8.48133e-17	1	1	0
SERPINA7	6906	broad.mit.edu	37	X	105279124	105279124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:105279124C>T	ENST00000327674.4	-	2	1210	c.875G>A	c.(874-876)tGg>tAg	p.W292*	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Nonsense_Mutation_p.W292*			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	292					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAAGCGGTTCCACTTCTTCAG	0.493000													136	29					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649805	84649805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:84649805G>A	ENST00000369681.4	+	13	1279	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	380	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTCCTGAGGGCAATTTTAAA	0.338000													13	33					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140394000	140394000	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:140394000T>C	ENST00000305626.5	+	2	799	c.410T>C	c.(409-411)cTa>cCa	p.L137P		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	137					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CAACATTTGCTAGCCAATGAT	0.398000													73	106					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27529115	27529115	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:27529115C>T	ENST00000296098.4	+	8	1297	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	TRIM54_ENST00000380075.2_Missense_Mutation_p.R301W	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCAGGGCGGCCGGAGCC	0.647000													48	65					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49020365	49020365	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:49020365G>A	ENST00000356401.4	+	15	1702	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	RP13-131K19.1_ENST00000429681.1_RNA|ARIH2_ENST00000449376.1_Missense_Mutation_p.E455K|RP13-131K19.1_ENST00000415982.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	455					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGCTGAGATCGAAAACCTCTC	0.537000													34	60					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220100289	220100289	+	Silent	SNP	C	C	T	rs140463651	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:220100289C>T	ENST00000323348.5	+	11	1959	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y	ANKZF1_ENST00000409849.1_Silent_p.Y385Y|ANKZF1_ENST00000410034.3_Silent_p.Y595Y	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	595						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATGCCTACGATTACAACA	0.493000													49	57					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	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				61	38					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5754592	5754592	+	Silent	SNP	G	G	A	rs111234281	byFrequency	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:5754592G>A	ENST00000382674.2	+	9	1312	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	EVC_ENST00000264956.6_Silent_p.A376A|EVC_ENST00000509451.1_Silent_p.A376A			P57679	EVC_HUMAN	Ellis van Creveld syndrome	376					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGGGGCGGGCGCACATGGCAA	0.587000													42	70					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:8717816G>A	ENST00000378641.3	+	20	2660	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378000													21	39					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458698	45458698	+	RNA	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:45458698C>T	ENST00000548424.1	+	0	448																											GAACCAGATTCATCGCTAATT	0.433000													19	7					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969804	118969804	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:118969804C>T	ENST00000328252.3	+	3	1917	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	516	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAATATTTTCTTTGCAAAAT	0.433000													20	46					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617301	70617301	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:70617301A>C	ENST00000260126.3	-	6	2293	c.1587T>G	c.(1585-1587)atT>atG	p.I529M	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I474M|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.I529M	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	529						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCCTAGATTAATGCTTTCAC	0.433000													51	64					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001176	121001176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121001176C>T	ENST00000273666.6	+	20	2445	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S725F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S725F|STXBP5L_ENST00000472879.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	725					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCGTACTTCCTATCAGAGT	0.393000													16	27					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138642	55138642	+	Missense_Mutation	SNP	C	C	T	rs143344944		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:55138642C>T	ENST00000257290.5	+	9	1650	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	440	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGAAGGCACGCCGCTTCCT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			36	59					0	0	1	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21961722	21961722	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr13:21961722G>C	ENST00000400590.3	-	9	977	c.779C>G	c.(778-780)tCt>tGt	p.S260C	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S260C|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.S260C|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S197C|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S260C			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	260						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GCATCCAAGAGAGAAACCATT	0.318000													3	2					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910653	38910653	+	Splice_Site	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:38910653G>A	ENST00000454404.2	-	6	723	c.509_splice	c.e6-1	p.L170_splice	RASGRP4_ENST00000433821.2_Splice_Site_p.L170_splice|RASGRP4_ENST00000293062.9_Splice_Site_p.L170_splice|RASGRP4_ENST00000426920.2_Splice_Site_p.L170_splice|RASGRP4_ENST00000586305.1_Intron|RASGRP4_ENST00000587753.1_Splice_Site_p.L170_splice|RASGRP4_ENST00000587738.1_Splice_Site_p.L170_splice	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGCTCAGGCTGGGGGCCA	0.627000													23	23					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12613781	12613781	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:12613781C>T	ENST00000170447.7	+	4	688	c.551C>T	c.(550-552)gCc>gTc	p.A184V	MKRN2_ENST00000411987.1_Missense_Mutation_p.A141V|MKRN2_ENST00000448482.1_Missense_Mutation_p.A182V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	184						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TTTGGGGATGCCTGTGTCTAC	0.577000													26	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110585	141110585	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:141110585C>T	ENST00000389484.3	-	76	12558	c.11587G>A	c.(11587-11589)Gga>Aga	p.G3863R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3863	EGF-like 9.				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)		TTATATGATCCTTCCACATTT	0.343000										TSP Lung(27;0.18)			37	46					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980683	121980683	+	Silent	SNP	C	C	T	rs148721982		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121980683C>T	ENST00000498619.1	+	4	1239	c.801C>T	c.(799-801)atC>atT	p.I267I	CASR_ENST00000490131.1_Silent_p.I267I|CASR_ENST00000296154.5_Silent_p.I267I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	267					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	p.I267I(1)		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)	CCAAAGTCATCGTGGTTTTCT	0.527000													83	110					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978067	15978067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:15978067C>T	ENST00000262101.5	-	9	1203	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.G379E|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	361	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCACCCTCCCCTCGTGAGG	0.493000													62	18					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485814	37485814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:37485814G>A	ENST00000381792.2	-	7	780	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R223C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R214C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R214C|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R223C			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	223	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCTGTAGCGGTAACAACCT	0.677000													6	20					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959121	200959121	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:200959121C>T	ENST00000332129.2	-	21	3397	c.3081G>A	c.(3079-3081)ctG>ctA	p.L1027L	KIF21B_ENST00000422435.2_Silent_p.L1027L|KIF21B_ENST00000461742.2_Silent_p.L1027L|KIF21B_ENST00000360529.5_Silent_p.L1027L	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	1027					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						GGGCTTCAGCCAGGGAGCAGG	0.622000													35	48					0	0	1	0	0
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													5	20					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74459660	74459660	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:74459660C>T	ENST00000394019.2	-	24	3107	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	SLC4A5_ENST00000377632.1_Missense_Mutation_p.D904N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D904N|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D802N|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D904N|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D904N|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D802N|SLC4A5_ENST00000483195.1_Intron	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	904						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGAGGCTGTCGATGTGGGCG	0.612000													73	97					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31478032	31478032	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:31478032G>T	ENST00000408912.3	+	8	3232	c.2915G>T	c.(2914-2916)cGg>cTg	p.R972L	ARMC5_ENST00000538189.1_Missense_Mutation_p.R909L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000563544.1_Missense_Mutation_p.R877L|ARMC5_ENST00000412665.2_Missense_Mutation_p.R521L|ARMC5_ENST00000268314.4_Missense_Mutation_p.R877L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	877							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCTGGGCCGGCCCCGGCTG	0.721000													10	7					0.0692343	0.0692343	1	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51656392	51656392	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:51656392G>A	ENST00000317643.6	+	7	1363	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000600577.1_3'UTR|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E339K	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	432					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGGGGAGGAAAGAGAGAT	0.532000													73	140					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521700	10521700	+	Missense_Mutation	SNP	C	C	T	rs139950075	byFrequency	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:10521700C>T	ENST00000444303.2	+	10	1620	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	AMPD3_ENST00000396554.3_Missense_Mutation_p.P551L|AMPD3_ENST00000530864.1_3'UTR	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	542					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GACAAGAGCCCAAACCCGGAC	0.567000													54	93					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416327	30416327	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:30416327C>T	ENST00000333027.3	+	17	3007	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	MTMR3_ENST00000401950.2_Silent_p.P893P|MTMR3_ENST00000351488.3_Silent_p.P893P|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.P757P|MTMR3_ENST00000406629.1_Silent_p.P893P	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	893					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCGAGAGGCCCCAAGTGGGGT	0.552000													59	69					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145119000	145119000	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:145119000A>T	ENST00000367545.3	+	63	9119	c.9119A>T	c.(9118-9120)gAt>gTt	p.D3040V	UTRN_ENST00000367526.4_Missense_Mutation_p.D595V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3040	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGTTTATAGATTGGATGCAT	0.378000													31	49					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49663536	49663536	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:49663536G>A	ENST00000299338.6	-	12	1376	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TTCTTCCTTGGATATGGGCAA	0.269000													38	53					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962089	1962089	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:1962089G>A	ENST00000454677.2	-	2	647	c.582C>T	c.(580-582)atC>atT	p.I194I	HS3ST6_ENST00000443547.1_Silent_p.I146I|HS3ST6_ENST00000293937.3_Silent_p.I177I			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	146										endometrium(2)|lung(2)	4						GCACCACCACGATCAGCTTCG	0.692000													8	25					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659520	176659520	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:176659520C>T	ENST00000367662.3	+	5	3549	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	PAPPA2_ENST00000367661.3_Silent_p.F795F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	795					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						CCTGTGGCTTCACTCGCTTCC	0.557000													74	105					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129810158	129810158	+	RNA	SNP	C	C	T	rs6803922	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:129810158C>T	ENST00000514010.1	-	0	248				ALG1L2_ENST00000507643.1_RNA																							CACCTCTGGACCTGCAGCACC	0.587000													4	54					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205720	73205720	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:73205720G>A	ENST00000545377.1	+	34	4821	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1505K|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E469K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E1236K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1549K	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GGGTGGCCCCGAGGTATGGAC	0.647000													7	14					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827345	96827345	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96827345C>T	ENST00000371270.3	-	2	366	c.272G>A	c.(271-273)gGa>gAa	p.G91E	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	91					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AAACTCCTCTCCATTATCAAT	0.428000													37	119					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965933	123965933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:123965933C>T	ENST00000314393.4	+	3	3018	c.2183C>T	c.(2182-2184)cCa>cTa	p.P728L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	728						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGTGGTTCCACAATATTAC	0.527000													64	177					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44914522	44914522	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:44914522A>T	ENST00000261866.7	-	13	2356	c.2340T>A	c.(2338-2340)aaT>aaA	p.N780K	SPG11_ENST00000558319.1_Missense_Mutation_p.N780K|SPG11_ENST00000427534.2_Missense_Mutation_p.N780K|SPG11_ENST00000535302.2_Missense_Mutation_p.N780K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	780					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGAAAAATAATTTTTTTCTT	0.274000													10	13					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345264	5345264	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:5345264C>T	ENST00000328813.2	-	1	318	c.264G>A	c.(262-264)agG>agA	p.R88R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTAATCTCCCTGTGATTCA	0.493000													55	80					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61895704	61895704	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr17:61895704C>T	ENST00000578681.1	+	19	3364	c.2763C>T	c.(2761-2763)gaC>gaT	p.D921D	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Silent_p.D921D|DDX42_ENST00000457800.2_Silent_p.D921D|DDX42_ENST00000389924.2_Silent_p.D921D|DDX42_ENST00000359353.5_Silent_p.D802D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	921					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGACAGCTGACGGCTTTGCTG	0.473000													52	91					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273547	10273547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:10273547G>A	ENST00000304886.2	+	5	389	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	61	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CGATCGTGTCGAAGAAGGCAT	0.403000													50	62					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080504	40080504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:40080504G>A	ENST00000401624.1	+	36	6028	c.6028G>A	c.(6028-6030)Gta>Ata	p.V2010I	CACNA1I_ENST00000400164.3_Splice_Site|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1975I|CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000402142.3_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	0					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCCGGCAGGTACCGACACC	0.627000													10	12					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124113992	124113992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:124113992G>A	ENST00000360013.3	+	12	2094	c.1967G>A	c.(1966-1968)tGg>tAg	p.W656*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.W656*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.W656*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	656					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						TTGTGGACATGGATGGAAGAC	0.542000													30	28					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105846165	105846165	+	Splice_Site	SNP	C	C	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr14:105846165C>G	ENST00000447393.1	+	10	1224	c.1050_splice	c.e10+1	p.P350_splice	PACS2_ENST00000430725.2_Splice_Site_p.P275_splice|PACS2_ENST00000325438.8_Splice_Site_p.P350_splice|PACS2_ENST00000547217.1_Splice_Site_p.P320_splice|PACS2_ENST00000458164.2_Splice_Site_p.P350_splice	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	350					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCCAAGCCCGGTGAGTGGG	0.652000													24	53					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373585	62373585	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:62373585G>A	ENST00000394773.2	-	13	1913	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	EML3_ENST00000278845.4_Missense_Mutation_p.R537C|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319C|EML3_ENST00000494176.2_Missense_Mutation_p.R508C|EML3_ENST00000529309.1_Missense_Mutation_p.R536C	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGCCGGCGGTCCCGCCCG	0.647000													73	126					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530310	140530310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:140530310G>A	ENST00000231136.1	+	1	472	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D22N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		158	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCACACGATTTAGACAC	0.488000													163	211					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50171585	50171585	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:50171585C>T	ENST00000284509.6	-	24	2910	c.2769G>A	c.(2767-2769)ggG>ggA	p.G923G	ATP8B4_ENST00000559829.1_Silent_p.G923G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	923					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGTCAAAAATCCCCATGGCTA	0.323000													10	23					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748790	43748790	+	Silent	SNP	G	G	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:43748790G>T	ENST00000263801.3	-	12	2253	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	TP53BP1_ENST00000382039.3_Silent_p.I672I|TP53BP1_ENST00000450115.2_Silent_p.I672I|TP53BP1_ENST00000382044.4_Silent_p.I672I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	667					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTGTCTCAGGGATTTCTTCCA	0.463000								Other conserved DNA damage response genes					80	118					1.91123e-38	2.0408e-38	1	1	0
RBP1	5947	broad.mit.edu	37	3	139237310	139237310	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:139237310C>T	ENST00000232219.2	-	3	603	c.493G>A	c.(493-495)Gag>Aag	p.E165K	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	103						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CCACGCCCCTCCTTCTCACCC	0.602000													36	56					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152312	100152312	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:100152312C>T	ENST00000370575.4	-	10	987	c.939G>A	c.(937-939)aaG>aaA	p.K313K	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	313							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCACCTGCACCTTCGCCACTG	0.527000													43	101					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955377	30955377	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:30955377C>G	ENST00000295055.8	-	20	2030	c.1854G>C	c.(1852-1854)agG>agC	p.R618S	CAPN13_ENST00000534090.2_Missense_Mutation_p.R618S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	618					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCGCTGTACCTGAGGGTCA	0.607000													10	22					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123570	108123570	+	Missense_Mutation	SNP	C	C	T	rs141353650		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:108123570C>T	ENST00000374720.3	+	8	1106	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	SLC44A1_ENST00000374723.1_Missense_Mutation_p.R287W|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R287W|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R79W	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	287						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGACAATCTTCGGGCCCTCCT	0.453000													63	78					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297755	139297755	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:139297755C>T	ENST00000406164.1	-	4	704	c.141G>A	c.(139-141)gaG>gaA	p.E47E	NMNAT3_ENST00000296202.7_Silent_p.E84E|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.E47E|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Silent_p.E84E|NMNAT3_ENST00000511444.1_Silent_p.E47E			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	84					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CCTGCTCACTCTCCCAAGGGT	0.592000													33	49					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676069	62676069	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:62676069C>T	ENST00000498273.1	+	4	1918	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	541								p.P541P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGCTGTGCCCACAAGTCAAG	0.458000													27	57					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799531	141799531	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:141799531A>C	ENST00000475668.2	+	67	7922	c.7868A>C	c.(7867-7869)cAc>cCc	p.H2623P	MGAM_ENST00000549489.2_Missense_Mutation_p.H1727P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1727					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.H1727P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAACACCCACTTAAGGTAA	0.478000													22	37					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74317022	74317022	+	Splice_Site	SNP	A	A	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:74317022A>T	ENST00000409262.3	+	5	2483		c.e5-1			NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3								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						TGTGTGTTGCAGCCGGACCTG	0.567000													97	140					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480165	96480165	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96480165C>A	ENST00000285979.6	+	6	1031	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.Q219K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AAAGCACAATCAACAGTCTGA	0.333000													22	59					2.54575e-18	2.67304e-18	1	1	0
IQSEC1	9922	broad.mit.edu	37	3	12978144	12978144	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:12978144G>A	ENST00000273221.4	-	3	630	c.414C>T	c.(412-414)gcC>gcT	p.A138A	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	138	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGATGGTGCGGGCCGCATGGC	0.592000													17	19					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93755394	93755394	+	Splice_Site	SNP	A	A	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:93755394A>C	ENST00000535334.1	+	4	700		c.e4-1		ARL13B_ENST00000539730.1_Splice_Site|ARL13B_ENST00000471138.1_Splice_Site|ARL13B_ENST00000394222.3_Splice_Site|ARL13B_ENST00000303097.7_Splice_Site|ARL13B_ENST00000486562.1_Splice_Site	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B								GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TTTCTGTTTTAGGAACCATGT	0.313000													27	39					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	66					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903149	2903149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:2903149C>T	ENST00000161006.3	-	6	964	c.899G>A	c.(898-900)gGg>gAg	p.G300E	PRSS22_ENST00000571228.1_Missense_Mutation_p.G190E	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	300					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGCCCCACCCCCCTGAGCGCG	0.736000													20	25					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57605312	57605312	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:57605312C>T	ENST00000243077.3	+	85	13600	c.13134C>T	c.(13132-13134)gtC>gtT	p.V4378V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4378	EGF-like 22.				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)	TGACCTGCGTCGGCCACTGCA	0.637000													37	37					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633346	106633346	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:106633346G>A	ENST00000378026.4	-	2	1401	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACCTGCATGGAGAGCACCCC	0.657000													46	65					0	0	1	0	0
OR2A42	402317	broad.mit.edu	37	7	143929631	143929631	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:143929631G>A	ENST00000391496.1	-	1	305	c.306C>T	c.(304-306)ctC>ctT	p.L102L	RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA	NM_001001802.2	NP_001001802.2			olfactory receptor, family 2, subfamily A, member 42											breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					AACTCAAACAGAGAAAGGTCT	0.557000													183	124					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234536942	234536942	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:234536942C>T	ENST00000040877.1	-	25	4055	c.4056G>A	c.(4054-4056)aaG>aaA	p.K1352K	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1352					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GACAATAATCCTTGAGTGGGT	0.363000													9	5					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416315	124416315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:124416315C>T	ENST00000409039.3	+	74	12720	c.12695C>T	c.(12694-12696)tCg>tTg	p.S4232L	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4232					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCCCACTTCGGTGGTGCTC	0.522000													65	24					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:182783380C>T	ENST00000431877.2	+	12	3022	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	SSFA2_ENST00000320370.7_Missense_Mutation_p.S948L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S457L|SSFA2_ENST00000409001.1_Missense_Mutation_p.S948L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S795L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313000													21	33					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649789	84649789	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:84649789G>C	ENST00000369681.4	+	13	1263	c.1123G>C	c.(1123-1125)Gta>Cta	p.V375L	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	375	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TTTTGTTTCTGTAAGCAGTCC	0.338000													15	28					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351414	19351414	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:19351414T>C	ENST00000252575.5	+	12	3455	c.3412T>C	c.(3412-3414)Ttt>Ctt	p.F1138L	NCAN_ENST00000538881.1_Missense_Mutation_p.F589L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1138	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCTGCAGGCTTTGGGCATGA	0.632000													37	71					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13721894	13721894	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:13721894G>T	ENST00000354817.3	+	3	364	c.220G>T	c.(220-222)Gat>Tat	p.D74Y		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	74					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGAAAATCCAGATTTTAGAGA	0.328000													24	24					9.57634e-11	9.83657e-11	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102992106	102992106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:102992106C>T	ENST00000375735.2	+	10	1510	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R456*|DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R456*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	456	Stem (By similarity).		R -> Q (in dbSNP:rs17099969).		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATAGATTTTCGATTAGACTT	0.353000													15	6					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100013927	100013927	+	Splice_Site	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:100013927C>T	ENST00000398027.2	-	7	879		c.e7+1		ZCWPW1_ENST00000490721.1_Splice_Site|ZCWPW1_ENST00000324725.6_Splice_Site|ZCWPW1_ENST00000360951.4_Splice_Site	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1								zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGTACTTACGAGCTTCCTT	0.463000													91	91					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330842	30330842	+	Silent	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr21:30330842C>T	ENST00000361371.4	-	14	2763	c.2613G>A	c.(2611-2613)ctG>ctA	p.L871L	LTN1_ENST00000389194.2_Silent_p.L917L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	871							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAGTATTTTTCAGTTTACAGA	0.338000													18	34					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57858949	57858949	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:57858949T>A	ENST00000228682.2	+	5	536	c.445T>A	c.(445-447)Ttt>Att	p.F149I	GLI1_ENST00000546141.1_Missense_Mutation_p.F108I|GLI1_ENST00000543426.1_Missense_Mutation_p.F21I	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	149					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCGCCTTCCTTTGGGGTCCA	0.582000													32	53					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112322892	112322892	+	Silent	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:112322892G>A	ENST00000369697.1	-	4	1485	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	KCND3_ENST00000315987.2_Silent_p.I472I|KCND3_ENST00000302127.4_Silent_p.I472I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	472						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCTGGCTCTCGATGAGTGAGG	0.522000													5	2					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377401	8377401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:8377401C>T	ENST00000538603.1	-	4	586	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G10R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	10							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTCTTTGCCCCAGGTTTGGGG	0.587000													12	34					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464742	2464742	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:2464742G>A	ENST00000278772.4	-	6	1352	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GAGTGTATACGATGGTGTCTG	0.478000													60	60					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381609	156381609	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:156381609C>T	ENST00000274532.2	-	2	273	c.217G>A	c.(217-219)Gga>Aga	p.G73R	TIMD4_ENST00000407087.3_Missense_Mutation_p.G73R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	73	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTCATTCCATCAGTGCGG	0.517000													46	87					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													2	4	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agg>ag	p.SR81del	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													2	4	---	---	---	---					
USP42	84132	broad.mit.edu	37	7	6196639	6196651	+	Frame_Shift_Del	DEL	GGATGGAAAGCAG	GGATGGAAAGCAG	-			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:6196639_6196651delGGATGGAAAGCAG	ENST00000306177.5	+	16	4054_4066	c.3896_3908delGGATGGAAAGCAG	c.(3895-3909)cgfs	p.RMESR1299fs		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1299					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACACTTACGGATGGAAAGCAGGGATGACAGG	0.498													7	38	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs56194704		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggc>ctCTGgggc	p.33_34LG>LWG		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													6	8	---	---	---	---					
NLRP9	338321	broad.mit.edu	37	19	56249721	56249722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:56249721_56249722insA	ENST00000332836.2	-	1	46_47	c.19_20insT	c.(19-21)ggafs	p.G7fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	7	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCAAAATCCGAAAAAAAAGAT	0.396													7	194	---	---	---	---					
