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
ACTG1P17	283693	broad.mit.edu	37	15	83395032	83395032	+	RNA	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:83395032C>G	ENST00000560958.1	-	0	1254					NR_036446.1																						TCAGGCAGCACAGGCTACGTA	0.458000													14	2					0	0	0.435327	0	0
SRRM2	23524	broad.mit.edu	37	16	2815941	2815941	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:2815941C>T	ENST00000301740.8	+	11	5961	c.5412C>T	c.(5410-5412)agC>agT	p.S1804S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1804	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACAGCGGAGCCGGTCAAGGT	0.607000													3	59					0	0	0.115264	0	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373000													45	66					0	0	0.864702	0	0
UNC45B	146862	broad.mit.edu	37	17	33477172	33477172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:33477172C>T	ENST00000268876.5	+	4	408	c.311C>T	c.(310-312)gCc>gTc	p.A104V	UNC45B_ENST00000394570.2_Missense_Mutation_p.A104V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A104V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A104V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A104V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	104					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGCGTTGTGCCACCCTCGAG	0.587000													4	97					0	0	0.150653	0	0
HIATL1	84641	broad.mit.edu	37	9	97209207	97209207	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:97209207T>C	ENST00000375344.3	+	7	1101	c.832T>C	c.(832-834)Tat>Cat	p.Y278H	HIATL1_ENST00000428393.2_Missense_Mutation_p.Y213H	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	278					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TTTTTTTCTCTATCTCAGGCA	0.388000													65	120					0	0	0.870114	0	0
NF2	4771	broad.mit.edu	37	22	30035203	30035203	+	Splice_Site	SNP	T	T	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:30035203T>G	ENST00000338641.4	+	3	804		c.e3+2		NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000353887.4_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000347330.5_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(4)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACAGGTACATCAGTCA	0.453000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				98	20					0	0	0.870114	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672000													44	57					0	0	0.870114	0	0
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000441024.2_Silent_p.R38R|CNOT1_ENST00000569240.1_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373000													3	48					0	0	0.115264	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	53					0	0	0.150653	0	0
BMS1P20	96610	broad.mit.edu	37	22	22658317	22658317	+	RNA	SNP	G	G	A	rs4050825	by1000genomes	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:22658317G>A	ENST00000426066.1	+	0	84					NR_027293.1																						GAATGAAGATGTAGAGAAACA	0.284000													3	31					0	0	0.115264	0	0
ETV5	2119	broad.mit.edu	37	3	185823732	185823732	+	Splice_Site	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:185823732C>A	ENST00000306376.5	-	2	173		c.e2-1		ETV5_ENST00000537818.1_Splice_Site|ETV5_ENST00000434744.1_Splice_Site|DGKG_ENST00000447054.1_Splice_Site	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5						cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGGATCCTCCTGTAATATGA	0.388000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	17					3.09899e-07	3.40452e-07	0.307466	1	0
COG3	83548	broad.mit.edu	37	13	46077403	46077403	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:46077403G>A	ENST00000349995.5	+	14	1625	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	505					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTGAAAGATGAACAGAAGAA	0.358000													53	72					0	0	0.870114	0	0
ZNF606	80095	broad.mit.edu	37	19	58490863	58490863	+	Silent	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:58490863A>C	ENST00000341164.4	-	7	1805	c.1185T>G	c.(1183-1185)acT>acG	p.T395T	ZNF606_ENST00000536132.1_Silent_p.T305T	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTTCTCTGCAGTGTAAGTGC	0.373000													78	34					0	0	0.870114	0	0
C7	730	broad.mit.edu	37	5	40959667	40959667	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:40959667G>A	ENST00000313164.9	+	12	1965	c.1606G>A	c.(1606-1608)Gtt>Att	p.V536I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	536	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGATCCTGCGTTGGAGAAAC	0.542000													8	27					0	0	0.335167	0	0
RFC2	5982	broad.mit.edu	37	7	73661054	73661054	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:73661054A>G	ENST00000055077.3	-	5	432	c.372T>C	c.(370-372)gcT>gcC	p.A124A	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	124					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTTTTTGTTGAGCAAACATTT	0.413000													76	136					0	0	0.870114	0	0
CAPN10	11132	broad.mit.edu	37	2	241531379	241531379	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:241531379C>T	ENST00000391984.2	+	4	696	c.500C>T	c.(499-501)gCc>gTc	p.A167V	CAPN10_ENST00000391982.2_Missense_Mutation_p.A167V|CAPN10_ENST00000354082.4_Missense_Mutation_p.A167V|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.A167V|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	167	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CACCTGTGGGCCGGGCAGGTG	0.642000													11	13					0	0	0.411799	0	0
SPG21	51324	broad.mit.edu	37	15	65273246	65273246	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:65273246G>A	ENST00000204566.2	-	3	476	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.R61W|SPG21_ENST00000416889.2_Missense_Mutation_p.R61W	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	61					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAAATCTGCCGGAAAAAGACA	0.453000													36	35					0	0	0.796494	0	0
FER	2241	broad.mit.edu	37	5	108295006	108295006	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:108295006C>G	ENST00000281092.4	+	13	1998	c.1614C>G	c.(1612-1614)atC>atG	p.I538M	FER_ENST00000438717.2_Missense_Mutation_p.I363M|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	538	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AACAGGTCATCACTAAGAAAT	0.358000													71	114					0	0	0.870114	0	0
DOCK4	9732	broad.mit.edu	37	7	111387452	111387452	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:111387452C>T	ENST00000428084.1	-	43	4736	c.4464G>A	c.(4462-4464)aaG>aaA	p.K1488K	DOCK4_ENST00000437633.1_Silent_p.K1479K|DOCK4_ENST00000494651.2_Silent_p.K362K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1479	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCTGATTCTTATTTTCTA	0.368000													16	24					0	0	0.520397	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401769	139401769	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:139401769G>A	ENST00000277541.6	-	22	3706	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1211	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAGTGCCCCGTGGGCAGGAG	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			27	37					0	0	0.706142	0	0
SAFB	6294	broad.mit.edu	37	19	5641841	5641841	+	Translation_Start_Site	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:5641841G>A	ENST00000433404.1	+	0	497				SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000292123.5_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I			Q15424	SAFB1_HUMAN	scaffold attachment factor B						chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	p.V144I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAATGGAAGCGTTGCAGATTG	0.483000													49	35					0	0	0.870114	0	0
SIK1	150094	broad.mit.edu	37	21	44838289	44838289	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr21:44838289G>A	ENST00000270162.6	-	12	1727	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	532					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGGGGAGCAGGCGCCCAGCAG	0.692000													9	3					0	0	0.411799	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131237	130131237	+	Silent	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr11:130131237G>T	ENST00000525842.1	-	2	899	c.532C>A	c.(532-534)Cga>Aga	p.R178R	ZBTB44_ENST00000357899.4_Silent_p.R178R|ZBTB44_ENST00000530205.1_Silent_p.R178R|ZBTB44_ENST00000397753.1_Silent_p.R178R	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGGATTCTCGGCAGACAGGA	0.443000													3	65					0.150653	0.160972	0.150653	1	0
OTOL1	131149	broad.mit.edu	37	3	161220146	161220146	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:161220146C>T	ENST00000327928.4	+	3	506	c.506C>T	c.(505-507)cCg>cTg	p.P169L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	169	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGGAAAACCGGGAGCACAA	0.413000													19	24					0	0	0.624587	0	0
CAPN2	824	broad.mit.edu	37	1	223940503	223940503	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:223940503C>G	ENST00000295006.5	+	9	1289	c.980C>G	c.(979-981)tCt>tGt	p.S327C	CAPN2_ENST00000433674.2_Missense_Mutation_p.S249C	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	327	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCCAGGATGTCTTTCAGTGAC	0.502000													40	66					0	0	0.834066	0	0
AKAP11	11215	broad.mit.edu	37	13	42877012	42877012	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:42877012A>C	ENST00000025301.2	+	8	4305	c.4130A>C	c.(4129-4131)aAa>aCa	p.K1377T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1377					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CGATCTGTTAAATCAGGATTA	0.408000													49	64					0	0	0.870114	0	0
XK	7504	broad.mit.edu	37	X	37553617	37553617	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:37553617A>C	ENST00000378616.3	+	2	527	c.324A>C	c.(322-324)caA>caC	p.Q108H	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	108					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGAAGAGGCAAATGCCAAAAA	0.478000													34	10					0	0	0.760397	0	0
LMTK2	22853	broad.mit.edu	37	7	97833456	97833456	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:97833456T>C	ENST00000297293.5	+	13	4734	c.4441T>C	c.(4441-4443)Ttt>Ctt	p.F1481L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1481				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATTGCCAGCTTTTCCCTCAC	0.672000													59	81					0	0	0.870114	0	0
BOLA1	51027	broad.mit.edu	37	1	149871795	149871795	+	Silent	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:149871795G>T	ENST00000369153.2	+	3	847	c.183G>T	c.(181-183)ccG>ccT	p.P61P	BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Silent_p.P61P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	61						extracellular region	protein binding	p.P61P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGCGGTCCCGCCTGGCAGTG	0.677000													6	60					0.217242	0.228985	0.217242	1	0
COL6A5	256076	broad.mit.edu	37	3	130162344	130162344	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:130162344C>T	ENST00000265379.6	+	36	7006	c.6512C>T	c.(6511-6513)cCg>cTg	p.P2171L	COL6A5_ENST00000432398.2_Missense_Mutation_p.P2171L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2171	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACCCACCACCGATGCTTGAG	0.373000													5	91					0	0	0.217242	0	0
ZNF451	26036	broad.mit.edu	37	6	57012950	57012950	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr6:57012950C>A	ENST00000370706.4	+	10	2311	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000589549.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAGGAGCACCACAGCATAG	0.343000													54	16					8.44121e-28	1.02877e-27	0.870114	1	0
OCM	654231	broad.mit.edu	37	7	5922122	5922122	+	Splice_Site	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:5922122A>T	ENST00000242104.5	+	2	153		c.e2-1		OCM_ENST00000416608.1_Splice_Site	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin								calcium ion binding	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TCTGTTCTTCAGACCCAGACA	0.408000													71	167					0	0	0.870114	0	0
OAS2	4939	broad.mit.edu	37	12	113446979	113446979	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:113446979G>T	ENST00000392583.2	+	10	2190	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.K661N	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	661	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGAAGCAAAGGAATGGTTAT	0.522000													153	266					4.07331e-60	5.04315e-60	0.870114	1	0
TBC1D5	9779	broad.mit.edu	37	3	17226605	17226605	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:17226605A>C	ENST00000253692.7	-	19	3512	c.1848T>G	c.(1846-1848)caT>caG	p.H616Q	TBC1D5_ENST00000429383.4_Missense_Mutation_p.H616Q|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.H638Q|TBC1D5_ENST00000429924.2_Missense_Mutation_p.H590Q	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	616						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTTACCAAGATGAGTGTCCA	0.423000													102	23					0	0	0.870114	0	0
EIF3E	3646	broad.mit.edu	37	8	109260914	109260914	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr8:109260914C>A	ENST00000220849.5	-	1	80	c.18G>T	c.(16-18)ttG>ttT	p.L6F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	6	Sufficient for interaction with EPAS1.				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)			TGCGAGTAGTCAAGTCGTACT	0.498000													36	66					9.04072e-19	1.0525e-18	0.779181	1	0
USP37	57695	broad.mit.edu	37	2	219330803	219330803	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:219330803T>C	ENST00000258399.3	-	21	2808	c.2396A>G	c.(2395-2397)cAg>cGg	p.Q799R	USP37_ENST00000415516.1_Missense_Mutation_p.Q705R|USP37_ENST00000454775.1_Missense_Mutation_p.Q799R|USP37_ENST00000418019.1_Missense_Mutation_p.Q799R	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	799					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATATCATACTGCTGGAGCCA	0.423000													102	140					0	0	0.870114	0	0
ZNF460	10794	broad.mit.edu	37	19	57802196	57802196	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:57802196A>G	ENST00000360338.3	+	3	609	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	ZNF460_ENST00000537645.1_Missense_Mutation_p.Q55R	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCATGGATCAAGATGGGCCA	0.512000													50	29					0	0	0.870114	0	0
TMCO3	55002	broad.mit.edu	37	13	114150177	114150177	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150177A>G	ENST00000434316.2	+	2	640	c.281A>G	c.(280-282)cAc>cGc	p.H94R	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94R	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTCAGGTGCACACGTTTGAA	0.463000													32	68					0	0	0.769981	0	0
EZH1	2145	broad.mit.edu	37	17	40864465	40864465	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:40864465C>A	ENST00000428826.2	-	12	1364	c.1243G>T	c.(1243-1245)Gct>Tct	p.A415S	EZH1_ENST00000585893.1_Missense_Mutation_p.A375S|EZH1_ENST00000592743.1_Missense_Mutation_p.A415S|EZH1_ENST00000435174.1_Missense_Mutation_p.A276S|EZH1_ENST00000415827.2_Missense_Mutation_p.A406S|EZH1_ENST00000590078.1_Missense_Mutation_p.A345S			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	415					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GCTGGACTAGCCTTCTGTTTT	0.498000													61	110					3.79397e-19	4.48378e-19	0.870114	1	0
NMT1	4836	broad.mit.edu	37	17	43163945	43163945	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:43163945G>C	ENST00000592782.1	+	4	441	c.310G>C	c.(310-312)Gga>Cga	p.G104R	NMT1_ENST00000258960.2_Missense_Mutation_p.G104R|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	104					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGTGGGTCAGGGACCTGCCAA	0.517000													35	56					0	0	0.788014	0	0
FAM161B	145483	broad.mit.edu	37	14	74407656	74407656	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr14:74407656G>A	ENST00000286544.3	-	5	1760	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	FAM161B_ENST00000534936.1_Missense_Mutation_p.A458V	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTTCCTGGTGGCATCTGTGAT	0.592000													73	56					0	0	0.870114	0	0
NOL6	65083	broad.mit.edu	37	9	33469503	33469503	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:33469503G>A	ENST00000379471.2	-	5	808	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.P181S			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	241					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TCACCACGCGGCCGCAGCAAC	0.597000													5	154					0	0	0.217242	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	48					0	0	0.115264	0	0
POMC	5443	broad.mit.edu	37	2	25384345	25384345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:25384345G>A	ENST00000405623.1	-	3	864	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	POMC_ENST00000395826.2_Missense_Mutation_p.R137C|POMC_ENST00000380794.1_Missense_Mutation_p.R137C|POMC_ENST00000264708.3_Missense_Mutation_p.R137C			P01189	COLI_HUMAN	proopiomelanocortin	137					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GAGTAGGAGCGCTTGCCCTCG	0.726000													8	17					0	0	0.278610	0	0
KCNH8	131096	broad.mit.edu	37	3	19554581	19554581	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:19554581G>T	ENST00000328405.2	+	13	2465	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	733						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACAAGGGGATCTTCTT	0.542000													53	23					2.81731e-22	3.38077e-22	0.870114	1	0
SLC30A1	7779	broad.mit.edu	37	1	211749361	211749361	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:211749361A>T	ENST00000367001.4	-	2	1022	c.893T>A	c.(892-894)aTt>aAt	p.I298N		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	298					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGTACTATTAATTATTTCTAC	0.373000													122	195					0	0	0.870114	0	0
TMEM160	54958	broad.mit.edu	37	19	47549310	47549310	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:47549310G>A	ENST00000253047.6	-	3	517	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	168						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		TCGTCCTCGGGCACCAGCTCC	0.766000													4	0					0	0	0.184627	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474332	145474332	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:145474332G>C	ENST00000323397.4	+	4	2297	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	335	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAACTGAGCCGCATGGAGCCA	0.652000													31	86					0	0	0.740014	0	0
ATP5B	506	broad.mit.edu	37	12	57037243	57037243	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:57037243A>G	ENST00000262030.3	-	5	786	c.736T>C	c.(736-738)Tta>Cta	p.L246L	ATP5B_ENST00000552919.1_Silent_p.L246L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	246					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATGGTATAAATCATTGCCT	0.438000													74	154					0	0	0.870114	0	0
IRX1	79192	broad.mit.edu	37	5	3599646	3599646	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:3599646C>A	ENST00000302006.3	+	2	636	c.584C>A	c.(583-585)gCg>gAg	p.A195E	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	195						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACATGGGGAGCGCGCAGCAAG	0.632000													42	54					1.96642e-18	2.2556e-18	0.827153	1	0
MGAM	8972	broad.mit.edu	37	7	141732690	141732690	+	Silent	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:141732690T>C	ENST00000475668.2	+	14	1704	c.1650T>C	c.(1648-1650)aaT>aaC	p.N550N	MGAM_ENST00000549489.2_Silent_p.N550N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	550	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAACCTAAATAATCCCCCAT	0.358000													17	28					0	0	0.557998	0	0
TMCO3	55002	broad.mit.edu	37	13	114150178	114150178	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150178C>A	ENST00000434316.2	+	2	641	c.282C>A	c.(280-282)caC>caA	p.H94Q	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94Q	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTCAGGTGCACACGTTTGAAA	0.463000													32	70					1.04352e-10	1.17963e-10	0.788014	1	0
TAB1	10454	broad.mit.edu	37	22	39811123	39811123	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:39811123C>T	ENST00000216160.6	+	2	208	c.146C>T	c.(145-147)cCa>cTa	p.P49L	TAB1_ENST00000331454.3_Missense_Mutation_p.P49L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	49					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCACCCGCCAGAGGACAGC	0.592000													19	54					0	0	0.592651	0	0
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:49221583G>A	ENST00000301050.2	+	13	1555	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000547392.1_Silent_p.G425G|CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	452					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622000													4	95					0	0	0.184627	0	0
ZNF257	113835	broad.mit.edu	37	19	22271410	22271410	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:22271410A>T	ENST00000594947.1	+	4	1002	c.858A>T	c.(856-858)aaA>aaT	p.K286N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCCTTCAAATATGATGAAT	0.393000													49	57					0	0	0.870114	0	0
ILDR2	387597	broad.mit.edu	37	1	166890437	166890437	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:166890437G>A	ENST00000271417.3	-	9	1446	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ILDR2_ENST00000526687.1_Missense_Mutation_p.A356V|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A405V|ILDR2_ENST00000529071.1_Missense_Mutation_p.A445V|ILDR2_ENST00000525740.1_Missense_Mutation_p.A337V	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	464						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCGCTGTGCGCCCGCGACTC	0.726000													3	8					0	0	0.184627	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669219	3669219	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr20:3669219T>C	ENST00000202578.4	-	20	5044	c.5045A>G	c.(5044-5046)cAc>cGc	p.H1682R	SIGLEC1_ENST00000344754.4_Silent_p.P1706P			Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	0					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCCCAGGGGTGGGGCACAGG	0.577000													3	8					0	0	0.115264	0	0
HPCA	3208	broad.mit.edu	37	1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:33359401delA	ENST00000373467.3	+	4	622	c.520delA	c.(520-522)aafs	p.K174fs		NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692													2	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176637152	176637152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:176637152delT	ENST00000439151.2	+	5	1797	c.1752delT	c.(1750-1752)acfs	p.T584fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T481fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	584					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATTTGAGACTTCAAATGGTG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			103	36	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123844355	123844356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr10:123844355_123844356insC	ENST00000369005.1	+	4	2680_2681	c.2340_2341insC	c.(2338-2343)caccccfs	p.HP780fs	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.HP780fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	780						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGGG	0.639													33	101	---	---	---	---					
BIN2	51411	broad.mit.edu	37	12	51693052	51693055	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:51693052_51693055delTTTG	ENST00000267012.4	-	7	595_598	c.534_537delCAAA	c.(532-537)aafs	p.NK178fs	BIN2_ENST00000452142.2_Frame_Shift_Del_p.NK146fs|BIN2_ENST00000544402.1_Frame_Shift_Del_p.NK152fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.NK151fs	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	178	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGTCTGGGCTTTGTTGAACTCTT	0.417													59	108	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													3	3	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:12642605_12642606insC	ENST00000425538.1	+	7	877_878	c.677_678insC	c.(676-678)gccfs	p.A226fs	MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584													7	123	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15730745	15730747	+	RNA	DEL	TAA	TAA	-	rs140849245		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:15730745_15730747delTAA	ENST00000441682.2	+	0	586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						taggagcatgtaatggactcatg	0.468													2	4	---	---	---	---					
ZNF430	80264	broad.mit.edu	37	19	21239825	21239826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:21239825_21239826insT	ENST00000261560.5	+	5	892_893	c.711_712insT	c.(709-714)gagtggfs	p.EW237fs		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AATGTGAAGAATGTGGTAAAGT	0.332													84	84	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57104948	57104949	+	RNA	INS	-	-	TTT	rs35353712		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr20:57104948_57104949insTTT	ENST00000427140.1	+	0	826					NR_034147.1																						tgggcctggagttttttttttt	0.342													4	6	---	---	---	---					
EP300-AS1	101927279	broad.mit.edu	37	22	41585697	41585697	+	RNA	DEL	T	T	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:41585697delT	ENST00000420537.1	-	0	223																											ctgcTGGCCATTTTTTTTTTC	0.493													2	4	---	---	---	---					
GAGE2A	729447	broad.mit.edu	37	X	49355892	49355893	+	Frame_Shift_Del	DEL	AC	AC	-	rs147803166	by1000genomes	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:49355892_49355893delAC	ENST00000362097.1	+	3	257_258	c.174_175delAC	c.(172-177)ggagfs	p.GQ58fs		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					CTCAGGAGGGACAGGATGAGGG	0.559													4	6	---	---	---	---					
