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
OR7E24	26648	broad.mit.edu	37	19	9361848	9361848	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:9361848G>A	ENST00000456448.1	+	1	243	c.129G>A	c.(127-129)ccG>ccA	p.P43P		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AACTGCAGCCGGTCCTCGCTG	0.572000													21	46					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39750786	39750786	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:39750786C>G	ENST00000564288.1	+	12	1940	c.1163C>G	c.(1162-1164)cCt>cGt	p.P388R	MACF1_ENST00000539005.1_Missense_Mutation_p.P393R|MACF1_ENST00000545844.1_Missense_Mutation_p.P393R|MACF1_ENST00000567887.1_Missense_Mutation_p.P425R|MACF1_ENST00000361689.2_Missense_Mutation_p.P393R|MACF1_ENST00000317713.7_Missense_Mutation_p.P393R|MACF1_ENST00000372915.3_Missense_Mutation_p.P393R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	393					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTAAACTGCCTCAAGGTTAT	0.448000													26	40					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56667543	56667543	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:56667543G>A	ENST00000548567.1	-	11	1330	c.860C>T	c.(859-861)aCt>aTt	p.T287I	CS_ENST00000542324.2_Missense_Mutation_p.T340I|CS_ENST00000351328.3_Missense_Mutation_p.T353I			O75390	CISY_HUMAN	citrate synthase	353					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TCGCGGATCAGTCTTCCTTAG	0.428000													26	43					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36917639	36917639	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:36917639G>A	ENST00000310758.4	-	19	2445	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	ELMO1_ENST00000442504.1_Missense_Mutation_p.P600S|ELMO1_ENST00000341056.3_Missense_Mutation_p.P302S|ELMO1_ENST00000448602.1_Missense_Mutation_p.P600S|ELMO1_ENST00000396040.2_Missense_Mutation_p.P120S|ELMO1_ENST00000396045.3_Missense_Mutation_p.P120S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	600	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAATCGTGGGGCACTTCTCCC	0.478000													10	14					0	0	1	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214159	23214159	+	RNA	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:23214159G>C	ENST00000390318.2	+	0	348																											GTCTGACGATGAGGCTGAGTA	0.587000													23	48					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855535	42855535	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:42855535A>G	ENST00000200557.6	+	25	2370	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	ADAM11_ENST00000535346.1_Missense_Mutation_p.N534S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	734					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCGGCACCAACATCATCATT	0.622000													11	28					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663261	123663261	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:123663261G>A	ENST00000542236.1	+	3	595	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	BBS12_ENST00000314218.3_Missense_Mutation_p.E72K	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	72					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACTTCTCAATGAAGCAGTTCA	0.368000									Bardet-Biedl syndrome				24	32					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934898	56934898	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:56934898A>G	ENST00000333201.9	+	5	1081	c.871A>G	c.(871-873)Act>Gct	p.T291A	ZNF583_ENST00000291598.7_Missense_Mutation_p.T291A|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GAGAGTTCATACTGGAGAGAA	0.423000													8	38					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86133744	86133744	+	Missense_Mutation	SNP	G	G	A	rs148799450		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:86133744G>A	ENST00000278487.3	+	14	2230	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	CCDC81_ENST00000354755.1_Missense_Mutation_p.R559Q|CCDC81_ENST00000445632.2_Missense_Mutation_p.R649Q|CCDC81_ENST00000528728.1_Missense_Mutation_p.R384Q			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	649										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCTGGCTCCCGGTTGCTTGTG	0.507000													13	5					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120591081	120591081	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:120591081C>T	ENST00000300648.6	-	33	4010	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1333					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGGGTCACTCTTGTCCAG	0.592000													17	24					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50267223	50267223	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:50267223A>T	ENST00000298310.5	-	23	2736	c.2287T>A	c.(2287-2289)Tct>Act	p.S763T	NEMF_ENST00000546046.1_Missense_Mutation_p.S742T|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.S721T			O60524	NEMF_HUMAN	nuclear export mediator factor	763						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCACCAACAGAATCCTGATCT	0.388000													8	22					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763469	44763469	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:44763469C>T	ENST00000296091.4	+	4	1416	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	ZNF502_ENST00000436624.2_Missense_Mutation_p.A387V|ZNF502_ENST00000449836.1_Missense_Mutation_p.A387V	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TGTGGCAAAGCGTTTACTCAG	0.413000													12	11					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32132507	32132507	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:32132507G>T	ENST00000375250.5	-	7	1419	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.A393D|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.A393D	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	393					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGGGATGAAGCATTATACTA	0.353000													3	6					0.115264	0.115264	1	1	0
CCDC147	159686	broad.mit.edu	37	10	106153204	106153204	+	Nonsense_Mutation	SNP	C	C	T	rs138726534	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:106153204C>T	ENST00000369704.3	+	11	1779	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	549										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAACAGCAGCGAATAGAAAA	0.458000													8	18					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667531	133667531	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:133667531G>C	ENST00000310926.4	-	8	1227	c.954C>G	c.(952-954)atC>atG	p.I318M	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.I242M	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	318					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCTCAGAAAGATGCATGGAA	0.587000													45	54					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633615	69633615	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:69633615A>G	ENST00000337103.4	+	9	2606	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	C8orf34_ENST00000325233.3_Silent_p.E107E|C8orf34_ENST00000539993.1_Silent_p.E363E|C8orf34_ENST00000518698.1_Silent_p.E449E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	363					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGGGACTGAAGAAGCACTAA	0.294000													8	26					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228273	10228273	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:10228273C>T	ENST00000377157.3	+	23	3604	c.2543C>T	c.(2542-2544)aCc>aTc	p.T848I	UBE4B_ENST00000253251.8_Missense_Mutation_p.T964I|UBE4B_ENST00000343090.6_Missense_Mutation_p.T1093I	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1093					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCACCGAAACCGTGGACATG	0.577000													19	21					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95222092	95222092	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:95222092C>T	ENST00000005178.5	-	4	706	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	170	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CATCAGCATCCGAGTAGAAAT	0.368000													9	57					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526741	234526741	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:234526741G>A	ENST00000373450.4	+	1	451	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGTTTAATGACCGAAAATT	0.343000													22	50					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49661371	49661371	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:49661371C>G	ENST00000249601.4	-	8	1260	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E338Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E163Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E213Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E232Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E328Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	322	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTGGGTCCTCTACCTGTGGC	0.537000													14	26					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089538	137089538	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:137089538T>A	ENST00000314940.4	-	1	501	c.218A>T	c.(217-219)gAc>gTc	p.D73V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	73	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTGTTGCCGTCCACGGCATG	0.647000													35	62					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40710407	40710407	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:40710407C>T	ENST00000249760.2	+	12	1560	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	IVD_ENST00000479013.2_Missense_Mutation_p.T379I|IVD_ENST00000487418.2_Missense_Mutation_p.T409I	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	406					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GGGGCTGGGACCAGCGAGGTG	0.562000													19	58					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815821	2815821	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:2815821G>A	ENST00000301740.8	+	11	5841	c.5292G>A	c.(5290-5292)tcG>tcA	p.S1764S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1764	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						GCTCTCCTTCGCCAAAGCCTC	0.572000													17	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7579378G>T	ENST00000420246.2	-	4	441	c.309C>A	c.(307-309)taC>taA	p.Y103*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCCCTGGTAGGTTTTCT	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			43	60					5.59293e-11	6.07508e-11	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:47530616C>T	ENST00000426342.1	-	7	1213	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418000													26	40					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151856002	151856002	+	Silent	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:151856002T>C	ENST00000355193.2	-	44	11834	c.11616A>G	c.(11614-11616)gaA>gaG	p.E3872E	KMT2C_ENST00000262189.6_Silent_p.E3872E					lysine (K)-specific methyltransferase 2C																		GTTTCTCCTCTTCGTCCTTTT	0.453000													87	43					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158223376	158223376	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:158223376C>T	ENST00000313708.6	-	9	1168	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	EBF1_ENST00000517373.1_Missense_Mutation_p.G288S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.G265S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	296	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCATGGTACCGAATATGACC	0.428000			T	HMGA2	lipoma								5	43					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742511	3742511	+	Splice_Site	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:3742511T>C	ENST00000315677.3	-	6	1769	c.1172_splice	c.e6-1	p.I392_splice	DLGAP1_ENST00000400155.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.I100_splice|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.I98_splice|DLGAP1_ENST00000534970.1_Splice_Site_p.I104_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000539435.1_Splice_Site_p.I90_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.I392_splice	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	392					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCATTGGAGATTCTGGAAGGG	0.473000													7	54					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518417	64518417	+	Silent	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:64518417T>C	ENST00000358025.3	+	48	8016	c.7786T>C	c.(7786-7788)Ttg>Ctg	p.L2596L	SYNE2_ENST00000554584.1_Silent_p.L2629L|SYNE2_ENST00000344113.4_Silent_p.L2596L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2596					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGAAATTGTTGGAAAGCCA	0.358000													18	15					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68049788	68049788	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:68049788G>T	ENST00000262210.5	+	15	1941	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	CSPP1_ENST00000412460.1_Missense_Mutation_p.G343V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	672						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATCCCTGGGGAAAAGGTGGA	0.343000													4	6					1.23904e-05	1.29024e-05	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181018	81181018	+	RNA	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:81181018G>A	ENST00000525539.1	-	0	5072				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACCAAGGCGAGGAGACTGT	0.517000													17	58					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89056289	89056289	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:89056289G>A	ENST00000564406.1	-	6	1739	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	DET1_ENST00000268148.8_Missense_Mutation_p.R516C|DET1_ENST00000444300.1_Missense_Mutation_p.R527C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	516						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCAACAAGGCGTCGCACTGTG	0.517000													11	23					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305114	61305114	+	Missense_Mutation	SNP	C	C	T	rs141049494		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:61305114C>T	ENST00000341074.5	-	8	1127	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E286K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTCCCTCCTCAGTGACCTCC	0.483000													30	14					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48396241	48396241	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:48396241A>C	ENST00000380006.2	-	1	1552	c.99T>G	c.(97-99)aaT>aaG	p.N33K	SIAH1_ENST00000356721.3_Missense_Mutation_p.N64K|SIAH1_ENST00000394725.2_Missense_Mutation_p.N33K			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	33					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TCGCCAAGTCATTGTTGGATG	0.512000													17	25					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72593061	72593061	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:72593061G>A	ENST00000299687.5	+	5	5114	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1705H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACCAAGCATCGCAGACAGCAC	0.567000													2	1					0	0	1	0	0
NUS1	116150	broad.mit.edu	37	6	118028143	118028143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:118028143C>T	ENST00000368494.3	+	5	1016	c.847C>T	c.(847-849)Caa>Taa	p.Q283*		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	283					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TGCCCTTCGTCAATATGCAGC	0.438000													26	22					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958856	41958856	+	Silent	SNP	G	G	A	rs76832034	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:41958856G>A	ENST00000269095.4	-	7	1087	c.783C>T	c.(781-783)atC>atT	p.I261I	MPP2_ENST00000523501.1_Silent_p.I250I|MPP2_ENST00000518766.1_Silent_p.I306I|MPP2_ENST00000461854.1_Silent_p.I285I|MPP2_ENST00000377184.3_Silent_p.I278I|MPP2_ENST00000536246.1_Silent_p.I250I|MPP2_ENST00000520305.1_Silent_p.I122I	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	285	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTGGTTTACGATCTGGAGCA	0.607000													44	68					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104142867	104142867	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:104142867T>C	ENST00000388887.2	+	59	6575	c.6371T>C	c.(6370-6372)aTa>aCa	p.I2124T	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2124	EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCACAGAGATAGACCCCTGT	0.607000													26	36					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2498953	2498953	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:2498953G>T	ENST00000397066.4	+	11	1280	c.1192G>T	c.(1192-1194)Gtc>Ttc	p.V398F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	398	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGGCGAGATCGTCTCCGCCTT	0.522000													33	60					2.85442e-18	3.21122e-18	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22382523	22382523	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:22382523C>T	ENST00000263160.3	+	5	1091	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	218					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAACCACCTCCTTTTGTGGTG	0.463000													16	16					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078035	81078035	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:81078035C>T	ENST00000566488.1	+	3	2427	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	ATMIN_ENST00000299575.4_Silent_p.A644A|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.A488A			O43313	ATMIN_HUMAN	ATM interactor	644					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCTTTTCGGCCTCAAATATCC	0.493000													20	32					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20093767	20093767	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:20093767C>G	ENST00000351989.3	+	10	2285	c.1856C>G	c.(1855-1857)tCt>tGt	p.S619C	DGCR8_ENST00000383024.2_Missense_Mutation_p.S586C|DGCR8_ENST00000407755.1_Missense_Mutation_p.S586C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	619	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGCTGTTGTCTCCATATCAG	0.557000													23	31					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996005	2996005	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:2996005C>T	ENST00000331459.1	-	1	285	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	96					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTCAGACACCCTGCATAGGAG	0.547000													45	87					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190949	42190949	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:42190949T>A	ENST00000006724.3	-	2	469	c.268A>T	c.(268-270)Aat>Tat	p.N90Y	CEACAM7_ENST00000602225.1_Missense_Mutation_p.N90Y|CEACAM7_ENST00000338196.4_Missense_Mutation_p.N90Y|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N90Y	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	90	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCTGGGGCATTTTCTTGACTT	0.453000													46	72					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139104420	139104420	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:139104420C>T	ENST00000280612.5	-	8	1234	c.955G>A	c.(955-957)Gtt>Att	p.V319I		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	319					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AAGATCGGAACTGCTAATGAG	0.428000													5	13					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase.		R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577000													28	19					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382145	48382145	+	Silent	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:48382145C>G	ENST00000224600.4	-	4	3617	c.3504G>C	c.(3502-3504)ggG>ggC	p.G1168G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1168	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTCACCTCCCCAATGACCA	0.627000													22	31					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118433712	118433712	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:118433712C>T	ENST00000311085.8	+	2	206	c.126C>T	c.(124-126)agC>agT	p.S42S	DMXL1_ENST00000539542.1_Silent_p.S42S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	42										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TACTGGGAAGCGATTTTGAAA	0.333000													9	13					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25639957	25639957	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:25639957C>G	ENST00000435706.2	-	36	4908	c.4707G>C	c.(4705-4707)aaG>aaC	p.K1569N	TOP2B_ENST00000264331.4_Missense_Mutation_p.K1574N|TOP2B_ENST00000540199.1_Missense_Mutation_p.K426N|TOP2B_ENST00000542520.1_Missense_Mutation_p.K426N			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1574					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CAAAAGATGTCTTCTTCGGTT	0.388000													6	7					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400669	78400669	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:78400669G>T	ENST00000397909.2	+	8	1524	c.1351G>T	c.(1351-1353)Gct>Tct	p.A451S	NAV3_ENST00000536525.2_Missense_Mutation_p.A451S|NAV3_ENST00000228327.6_Missense_Mutation_p.A451S|NAV3_ENST00000266692.7_Missense_Mutation_p.A451S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	451						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCTCCAAAAGCTGGAAGCAA	0.398000										HNSCC(70;0.22)			25	29					9.86323e-18	1.09979e-17	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55496450	55496450	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:55496450C>T	ENST00000543010.1	+	7	2209	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M	NLRP2_ENST00000537859.1_Missense_Mutation_p.T667M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T665M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T665M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T689M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T666M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T686M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T667M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	689					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTTTCTGGACGGACCTTTGT	0.438000													26	45					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893742	50893742	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:50893742G>A	ENST00000380817.2	-	33	4648	c.4465C>T	c.(4465-4467)Cgc>Tgc	p.R1489C	SBF1_ENST00000390679.3_Missense_Mutation_p.R1463C|SBF1_ENST00000348911.6_Missense_Mutation_p.R1464C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1463	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCTGAAGCGATGGCCGAAG	0.647000													18	34					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783634	149783634	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:149783634G>A	ENST00000427880.2	-	1	291	c.245C>T	c.(244-246)gCg>gTg	p.A82V	HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	82					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GTTGTAGTGCGCCAGGCGGGA	0.667000													36	62					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103371394	103371394	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:103371394G>A	ENST00000331272.7	-	8	1728	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	370					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CGTGCAGGCAGGCCCTTTGAC	0.592000													23	59					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60936703	60936703	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:60936703G>T	ENST00000373880.4	+	1	354	c.90G>T	c.(88-90)caG>caT	p.Q30H	PHYHIPL_ENST00000433653.1_Missense_Mutation_p.Q30H	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	30										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGGCCATTCAGCTGTGCGACC	0.672000													9	26					5.68852e-11	6.1261e-11	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33349446	33349446	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:33349446A>T	ENST00000023064.4	-	9	1068	c.877T>A	c.(877-879)Ttt>Att	p.F293I	SLC7A9_ENST00000587772.1_Missense_Mutation_p.F293I|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F293I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	293					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGGTCACCAAATGTCTGGTGA	0.562000													10	13					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671461	144671461	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:144671461C>T	ENST00000532741.1	-	1	1169	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	42					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGGCCGGCTCGCTCTTGCAG	0.711000													14	9					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75826975	75826975	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:75826975A>G	ENST00000356136.3	+	14	1554	c.1313A>G	c.(1312-1314)tAt>tGt	p.Y438C	UVRAG_ENST00000528420.1_Missense_Mutation_p.Y337C|UVRAG_ENST00000533454.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000539288.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000532130.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.Y66C	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	438					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGCTAAGATATCAACATGGA	0.378000													11	3					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333720	28333720	+	Silent	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:28333720G>T	ENST00000377255.3	+	7	1572	c.1275G>T	c.(1273-1275)ccG>ccT	p.P425P	ZKSCAN3_ENST00000252211.2_Silent_p.P425P|ZKSCAN3_ENST00000341464.5_Silent_p.P277P	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	425					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGGAGAAGCCGTATCAGTGCA	0.507000													36	12					9.17885e-22	1.0514e-21	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68013604	68013604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:68013604G>A	ENST00000268793.4	-	2	800	c.427C>T	c.(427-429)Cga>Tga	p.R143*	DPEP3_ENST00000574342.1_Intron	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	118					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTGAAATTTCGCAGGTTAACA	0.582000													7	30					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139939900	139939900	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:139939900T>C	ENST00000357560.4	-	12	1665	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	APBB3_ENST00000412920.3_Missense_Mutation_p.M406V|APBB3_ENST00000508496.2_Missense_Mutation_p.M185V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.M415V|APBB3_ENST00000356738.2_Missense_Mutation_p.M413V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	408	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCACCATACAGGCAGCC	0.607000													19	30					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122680068	122680068	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:122680068C>T	ENST00000195173.4	-	2	346	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V69I|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000357599.3_Missense_Mutation_p.V15I			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	15					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCAGGGACGAGGTGGTGG	0.612000													19	23					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95645801	95645801	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:95645801G>A	ENST00000436874.1	+	2	227	c.122G>A	c.(121-123)tGc>tAc	p.C41Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	41						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAGAAAAATGCACAACAGAG	0.393000													7	18					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31426209	31426209	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:31426209T>A	ENST00000389202.2	+	18	2229	c.2180T>A	c.(2179-2181)aTc>aAc	p.I727N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	727					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGAGCCCCATCATTCTGCAC	0.572000													47	73					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619591	37619591	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:37619591A>G	ENST00000337995.3	+	5	1913	c.1698A>G	c.(1696-1698)aaA>aaG	p.K566K	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAAGCCTTTATTC	0.428000													4	26					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7679407	7679407	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7679407C>A	ENST00000572933.1	+	31	6347	c.4887C>A	c.(4885-4887)caC>caA	p.H1629Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.H1629Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1629	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAACTGCCACCTGGCCCTCA	0.612000													34	47					1.45844e-13	1.61195e-13	1	1	0
TBC1D2	55357	broad.mit.edu	37	9	100983362	100983362	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:100983362A>C	ENST00000375066.5	-	6	1218	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	376	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCCTCCACCCGCCGGCC	0.697000													11	28					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32843746	32843746	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:32843746A>G	ENST00000311921.3	+	2	202	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	ZNF507_ENST00000544431.1_Missense_Mutation_p.S4G|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S4G	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TATGGAAGAAAGTAGCAGTGT	0.358000													17	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7578188C>A	ENST00000420246.2	-	6	793	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E221*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	221	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAGGCGGCTCATAGGGCACC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	21					0.0692343	0.070351	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52056629	52056629	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:52056629G>T	ENST00000354534.5	+	2	206	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	SCN8A_ENST00000545061.1_Missense_Mutation_p.G10C|SCN8A_ENST00000550891.1_Missense_Mutation_p.G10C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	10					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCACCACCAGGCCCTGATAG	0.547000													47	89					1.00776e-21	1.14394e-21	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4824383	4824383	+	Silent	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:4824383C>A	ENST00000354582.6	+	49	6773	c.6423C>A	c.(6421-6423)tcC>tcA	p.S2141S	ITPR1_ENST00000456211.2_Silent_p.S2093S|ITPR1_ENST00000443694.2_Silent_p.S2141S|ITPR1_ENST00000423119.2_Silent_p.S2108S|ITPR1_ENST00000357086.4_Silent_p.S2108S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S2141S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2156					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGGCGGCGTCCCCCAGGAACG	0.527000													24	10					1.66031e-10	1.77287e-10	1	1	0
VEZT	55591	broad.mit.edu	37	12	95645802	95645802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:95645802C>A	ENST00000436874.1	+	2	228	c.123C>A	c.(121-123)tgC>tgA	p.C41*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	41						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAGAAAAATGCACAACAGAGG	0.398000													7	18					8.12818e-05	8.39468e-05	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83847480	83847480	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:83847480G>T	ENST00000349129.2	+	21	3979	c.3719G>T	c.(3718-3720)tGt>tTt	p.C1240F	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C1221F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C1231F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1240					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTCACCTTGTATTTCAGGA	0.433000													16	21					1.99824e-07	2.11578e-07	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763041	92763041	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:92763041G>A	ENST00000318238.4	-	5	3460	c.2244C>T	c.(2242-2244)acC>acT	p.T748T	SAMD9L_ENST00000437805.1_Silent_p.T748T|SAMD9L_ENST00000411955.1_Silent_p.T748T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	748								p.T748T(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGCCAGTGTGGTACCTCCAC	0.378000													32	90					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126063	8126063	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:8126063G>A	ENST00000223145.5	+	8	2096	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	513										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCAGCACAGCGGGCTCCATGG	0.572000													71	235					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45755518	45755518	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:45755518A>G	ENST00000290158.4	+	18	2617	c.2210A>G	c.(2209-2211)aAt>aGt	p.N737S	KPNB1_ENST00000535458.2_Missense_Mutation_p.N592S|KPNB1_ENST00000537679.1_Missense_Mutation_p.N521S|KPNB1_ENST00000540627.1_Missense_Mutation_p.N592S	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	737					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTTGTATTGAATACTCTTCAG	0.438000													18	59					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57006800	57006800	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:57006800T>G	ENST00000370706.4	+	9	1155	c.911T>G	c.(910-912)tTg>tGg	p.L304W	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	304					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)			AAGAAACTTTTGATCTCTCTG	0.388000													27	18					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10614306	10614306	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:10614306T>A	ENST00000379774.4	+	4	965	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		TTTTGGTGTATACCACGTCAA	0.478000													16	36					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238259	126238259	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:126238259G>A	ENST00000394329.3	+	1	706	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTAAGCGGCGGGGCTACCTTC	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	19					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36876667	36876667	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:36876667C>T	ENST00000216185.2	-	2	684	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R73Q|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	73	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GTTGACCACTCGGTCTTGAAA	0.493000													27	46					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65680855	65680855	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:65680855C>T	ENST00000352385.2	-	16	2986	c.2777G>A	c.(2776-2778)cGc>cAc	p.R926H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	926	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCTCTGTGCGCGCCCCCAT	0.617000													45	95					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196865488	196865488	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:196865488G>A	ENST00000312428.6	-	12	1393	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	DNAH7_ENST00000410072.1_Silent_p.D431D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	431	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATCATGACGTCATAAACAT	0.338000													18	47					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952891	33952891	+	RNA	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:33952891C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCATAGGCCCCTTCCAGGCGC	0.657000													3	12					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627553	46627553	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:46627553G>C	ENST00000341415.2	-	2	75	c.51C>G	c.(49-51)ttC>ttG	p.F17L	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	17						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTGGAGGAGGAAGACTGTTA	0.428000													17	25					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135205684	135205684	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:135205684T>C	ENST00000372169.2	-	10	1483	c.1301A>G	c.(1300-1302)aAt>aGt	p.N434S	SETX_ENST00000224140.5_Missense_Mutation_p.N434S|SETX_ENST00000393220.1_Missense_Mutation_p.N434S			Q7Z333	SETX_HUMAN	senataxin	434					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTACAGATGATTAACAACCTG	0.393000													19	37					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148575247	148575247	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:148575247G>T	ENST00000491148.1	+	11	1319	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	CPB1_ENST00000282957.4_Missense_Mutation_p.A329S|CPB1_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	329					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGCAGAATGCCCTGGCTAA	0.418000													10	30					0.000219431	0.000224783	1	1	0
TSPYL6	388951	broad.mit.edu	37	2	54483268	54483268	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:54483268A>G	ENST00000317802.7	-	1	141	c.21T>C	c.(19-21)ccT>ccC	p.P7P	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	7					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CGGGGCTGTGAGGACTCTCCG	0.587000													44	59					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425617	65425617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:65425617G>A	ENST00000330909.8	-	9	1206	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.Q403*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	403	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctgctgctgctCAAGC	0.512000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	26					0	0	1	0	0
PEBP1	5037	broad.mit.edu	37	12	118582403	118582403	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:118582403A>G	ENST00000261313.2	+	4	711	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	120							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCACCGCTATGTCTGGCTG	0.547000													11	13					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842044	8842044	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:8842044C>T	ENST00000324060.2	+	1	729	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCTCCTACGGCCACGTGT	0.582000													21	43					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217622681	217622681	+	Splice_Site	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:217622681T>G	ENST00000366935.3	-	9	1388		c.e9-2			NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2							intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTGTTTGCCTACGAATAATT	0.358000													12	22					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480513	59480513	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:59480513G>A	ENST00000307552.2	-	1	824	c.806C>T	c.(805-807)cCt>cTt	p.P269L		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCCATCTCAGGAGAGTAGCT	0.483000													21	59					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2648797	2648797	+	Silent	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:2648797T>G	ENST00000382100.2	+	14	2447	c.2091T>G	c.(2089-2091)ctT>ctG	p.L697L	VLDLR_ENST00000382099.2_Silent_p.L697L	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	697					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATCATGAACTTGTACAGCCAT	0.448000													16	36					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4960878	4960878	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:4960878G>A	ENST00000345988.2	-	2	224	c.135C>T	c.(133-135)atC>atT	p.I45I	PPL_ENST00000590782.2_Silent_p.I45I	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	45					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGTGTCCACGATGTTCTTCT	0.607000													34	31					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569533	100569533	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:100569533C>T	ENST00000471714.1	-	16	1527	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.R424K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R473K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCAAGAGTTCTAGAAGTTTT	0.348000													4	8					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94404096	94404096	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:94404096C>T	ENST00000555019.1	-	9	2149	c.1719G>A	c.(1717-1719)ctG>ctA	p.L573L	ASB2_ENST00000315988.4_Silent_p.L525L	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	525	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGTGTTCCTTCAGCCGCGAGC	0.612000													15	26					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729452	62729452	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr20:62729452G>A	ENST00000349451.3	+	5	943	c.531G>A	c.(529-531)ctG>ctA	p.L177L	OPRL1_ENST00000355631.4_Silent_p.L177L|OPRL1_ENST00000336866.2_Silent_p.L177L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	177					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCTGGGCCCTGGCCTCTGTTG	0.637000													22	53					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307811	113307811	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:113307811G>C	ENST00000389385.4	+	10	1260	c.763G>C	c.(763-765)Ggg>Cgg	p.G255R	RPH3A_ENST00000447659.2_Missense_Mutation_p.G206R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.G255R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G251R|RPH3A_ENST00000543106.2_Missense_Mutation_p.G255R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G206R|RPH3A_ENST00000420983.2_Missense_Mutation_p.G255R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	255	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGACCACAGTGGGGGTGCTGG	0.597000													6	45					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805704	54805704	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:54805704T>G	ENST00000306858.7	+	5	2051	c.1935T>G	c.(1933-1935)aaT>aaG	p.N645K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	645										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGGTGTAAATAAGCAGACAG	0.363000													25	15					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6632086	6632086	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:6632086T>A	ENST00000315579.5	+	16	2846	c.2047T>A	c.(2047-2049)Tgg>Agg	p.W683R	NCAPD2_ENST00000545962.1_Missense_Mutation_p.W638R	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	683					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTCTCATCTGGTCTAAGGA	0.552000													41	64					0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25266413	25266413	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:25266413A>C	ENST00000222674.2	-	2	417	c.371T>G	c.(370-372)gTt>gGt	p.V124G		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	124					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CAGGTTAGGAACACGTCTCAC	0.493000													39	67					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80770945	80770945	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:80770945C>T	ENST00000458043.2	+	57	6803	c.6797C>T	c.(6796-6798)tCg>tTg	p.S2266L	OTOGL_ENST00000547103.1_Missense_Mutation_p.S2254L|OTOGL_ENST00000546620.1_Missense_Mutation_p.S285L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCATTAAATCGGTCATAAGG	0.323000													5	7					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373544	140373544	+	Silent	SNP	C	C	A	rs148381137		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:140373544C>A	ENST00000072869.4	+	1	592	c.414C>A	c.(412-414)acC>acA	p.T138T	ADCK2_ENST00000476491.1_Silent_p.T138T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	138						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGAAAGCCACCGAGACCTCAG	0.587000													56	43					4.17463e-26	4.82572e-26	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114149816	114149816	+	Splice_Site	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr13:114149816G>T	ENST00000434316.2	+	2	279		c.e2-1		TMCO3_ENST00000474393.1_Splice_Site|TMCO3_ENST00000375391.1_Splice_Site	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							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)			CTCTTTTTCAGCTGAAAATGT	0.423000													13	28					2.61681e-11	2.86712e-11	1	1	0
HYI	81888	broad.mit.edu	37	1	43917341	43917342	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:43917341_43917342insA	ENST00000372425.4	-	6	797_798	c.602_603insT	c.(601-603)acgfs	p.T201fs	HYI_ENST00000372434.1_Frame_Shift_Ins_p.T226fs|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Frame_Shift_Ins_p.T201fs|HYI_ENST00000486909.1_Frame_Shift_Ins_p.T201fs|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Frame_Shift_Ins_p.T128fs|HYI_ENST00000372426.1_Frame_Shift_Ins_p.T153fs			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	201							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACTCCCGGATGTTTCCTGT	0.584													30	31	---	---	---	---					
RAI14	26064	broad.mit.edu	37	5	34823335	34823335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:34823335delG	ENST00000265109.3	+	15	1675	c.1388delG	c.(1387-1389)agfs	p.R463fs	RAI14_ENST00000515799.1_Frame_Shift_Del_p.R466fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.R456fs|RAI14_ENST00000506376.1_Frame_Shift_Del_p.R455fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.R434fs|RAI14_ENST00000503673.1_Frame_Shift_Del_p.R463fs|RAI14_ENST00000428746.2_Frame_Shift_Del_p.R463fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	463						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAATCCCGAAGGGCAGAACTG	0.438													14	50	---	---	---	---					
PRDM1	639	broad.mit.edu	37	6	106553236	106553236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:106553236delG	ENST00000369096.4	+	5	1435	c.1201delG	c.(1201-1203)ctfs	p.A401fs	PRDM1_ENST00000369089.3_Frame_Shift_Del_p.A267fs|PRDM1_ENST00000369091.2_Frame_Shift_Del_p.A365fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	401					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTCCCGCCAGCTTTCATCCC	0.592			"""D, N, Mis, F, S"""		DLBCL								26	67	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													41	274	---	---	---	---					
SHMT2	6472	broad.mit.edu	37	12	57626532	57626533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:57626532_57626533insT	ENST00000328923.3	+	7	1215_1216	c.763_764insT	c.(763-765)cagfs	p.Q255fs	SHMT2_ENST00000414700.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000393827.4_Frame_Shift_Ins_p.Q159fs|SHMT2_ENST00000449049.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000557487.1_Frame_Shift_Ins_p.Q245fs|SHMT2_ENST00000553474.1_Frame_Shift_Ins_p.Q234fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	255						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CATGGCCCACATCAGTGGCCTG	0.624													20	23	---	---	---	---					
MBTPS1	8720	broad.mit.edu	37	16	84121067	84121068	+	Splice_Site	INS	-	-	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:84121067_84121068insA	ENST00000343411.3	-	9	1527		c.e9-2		MBTPS1_ENST00000569770.1_Splice_Site	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCAGAGTGCTATATTGAGACC	0.361													8	22	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													104	47	---	---	---	---					
APOH	350	broad.mit.edu	37	17	64224284	64224285	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:64224284_64224285insA	ENST00000205948.6	-	2	131_132	c.94_95insT	c.(94-96)cacfs	p.H32fs		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	32	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.S32F(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GACCACTGTGGAAAATGGTAAA	0.441													48	38	---	---	---	---					
DAZAP1	26528	broad.mit.edu	37	19	1434842	1434843	+	Frame_Shift_Ins	INS	-	-	T	rs61735591	by1000genomes	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:1434842_1434843insT	ENST00000233078.4	+	12	1316_1317	c.1155_1156insT	c.(1153-1158)ccccggfs	p.R386fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	386					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		ggggcccccccgccggcggcAG	0.713													8	36	---	---	---	---					
RUNX1	861	broad.mit.edu	37	21	36259279	36259279	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr21:36259279delA	ENST00000344691.4	-	1	1708	c.131delT	c.(130-132)cgfs	p.L44fs	RUNX1_ENST00000399240.1_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.L59fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000486278.2_Frame_Shift_Del_p.L47fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	44					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A66fs*62(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GCCGCTCCTCAGCTTGCCGGC	0.736			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								13	9	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								4	7	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885859	29885876	+	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	rs117283469	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG	ENST00000310624.6	+	4	2263_2280	c.2230_2247delGCTAAGTCCCCAGAGAAG	c.(2230-2247)del	p.AKSPEK750del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	756	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC	0.550													37	66	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	9	---	---	---	---					
TMEM187	8269	broad.mit.edu	37	X	153248003	153248009	+	Frame_Shift_Del	DEL	GAGGTCG	GAGGTCG	-	rs149045617		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chrX:153248003_153248009delGAGGTCG	ENST00000369982.4	+	2	1237_1243	c.490_496delGAGGTCG	c.(490-498)cafs	p.EVA164fs		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	164						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGCTTCGAGGTCGCACTGGGTGC	0.657													12	7	---	---	---	---					
