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
BSX	390259	broad.mit.edu	37	11	122850040	122850040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:122850040C>T	ENST00000343035.2	-	2	436	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	130										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGCTGGATCTCGAACCTCTTC	0.682000													10	98					0	0	0.335167	0	0
PGD	5226	broad.mit.edu	37	1	10477152	10477152	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:10477152C>G	ENST00000538557.1	+	9	1158	c.914C>G	c.(913-915)tCa>tGa	p.S305*	PGD_ENST00000541529.1_Nonsense_Mutation_p.S296*|PGD_ENST00000270776.8_Nonsense_Mutation_p.S318*|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	318					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GATAAGAAATCATTCCTGGAG	0.517000													12	57					0	0	0.387290	0	0
PIM1	5292	broad.mit.edu	37	6	37140900	37140900	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:37140900G>A	ENST00000373509.5	+	5	1109	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	337	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532000			T	BCL6	NHL								11	57					0	0	0.387290	0	0
LONRF2	164832	broad.mit.edu	37	2	100919411	100919411	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:100919411C>T	ENST00000393437.3	-	3	1532	c.893G>A	c.(892-894)tGt>tAt	p.C298Y	LONRF2_ENST00000409647.1_Missense_Mutation_p.C55Y	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	298					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CACAGAGTTACATTCAGGATT	0.403000													26	65					0	0	0.667858	0	0
TYMP	1890	broad.mit.edu	37	22	50967607	50967607	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50967607G>A	ENST00000252029.3	-	3	537	c.375C>T	c.(373-375)gtC>gtT	p.V125V	TYMP_ENST00000395681.1_Silent_p.V125V|TYMP_ENST00000395678.3_Silent_p.V125V|TYMP_ENST00000395680.1_Silent_p.V125V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	125					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGACCAGGCTGACCTTGTCAC	0.637000													5	52					0	0	0.184627	0	0
TMTC2	160335	broad.mit.edu	37	12	83359465	83359465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:83359465C>G	ENST00000549919.1	+	7	3598	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	TMTC2_ENST00000548305.1_Missense_Mutation_p.S604C|TMTC2_ENST00000321196.3_Missense_Mutation_p.S604C			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	604						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CACAAGAGCTCTGTTACCAGT	0.488000													4	71					0	0	0.150653	0	0
DLG2	1740	broad.mit.edu	37	11	83770508	83770508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:83770508G>A	ENST00000398309.2	-	6	924	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	DLG2_ENST00000398301.2_Missense_Mutation_p.R191W|DLG2_ENST00000531015.1_Missense_Mutation_p.R119W|DLG2_ENST00000418306.2_Missense_Mutation_p.R101W|DLG2_ENST00000543673.1_Missense_Mutation_p.R257W|DLG2_ENST00000280241.8_Missense_Mutation_p.R191W|DLG2_ENST00000330014.6_Missense_Mutation_p.R91W|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.R257W|DLG2_ENST00000532653.1_Missense_Mutation_p.R152W|DLG2_ENST00000524982.1_Missense_Mutation_p.R152W	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	152	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTCACCCGCAAGATACAA	0.443000													3	22					0	0	0.217242	0	0
PDHA2	5161	broad.mit.edu	37	4	96762253	96762253	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:96762253C>G	ENST00000295266.4	+	1	1015	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	318					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TATAATAATTCTCCAAGATAG	0.423000													11	42					0	0	0.361761	0	0
ZNF154	7710	broad.mit.edu	37	19	58213789	58213789	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58213789G>C	ENST00000512439.2	-	3	724	c.528C>G	c.(526-528)ctC>ctG	p.L176L	AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.L176L|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	176						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATGGTCATTGAGACTGTAGC	0.453000													19	111					0	0	0.592651	0	0
ZIM2	23619	broad.mit.edu	37	19	57286846	57286846	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:57286846A>C	ENST00000391708.3	-	12	1336	c.794T>G	c.(793-795)cTt>cGt	p.L265R	AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.L265R|ZIM2_ENST00000593711.1_Missense_Mutation_p.L265R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L265R|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L265R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGAGTCAAAAGTTTCTCTTG	0.443000													12	45					0	0	0.457914	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303808	151303808	+	Silent	SNP	C	C	T	rs139926957	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:151303808C>T	ENST00000370323.4	-	4	601	c.285G>A	c.(283-285)tcG>tcA	p.S95S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S95S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	95										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAACGACCGAGGGGGAGG	0.542000													15	264					0	0	0.479597	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855551	29855551	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:29855551C>A	ENST00000325874.8	+	12	1713	c.1484C>A	c.(1483-1485)gCg>gAg	p.A495E	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393E	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612000													3	50					0.150653	0.152676	0.150653	1	0
WSCD2	9671	broad.mit.edu	37	12	108634156	108634156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:108634156C>T	ENST00000332082.4	+	9	1998	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	WSCD2_ENST00000261400.3_Missense_Mutation_p.R394W|WSCD2_ENST00000549903.1_Missense_Mutation_p.R394W|WSCD2_ENST00000547525.1_Missense_Mutation_p.R394W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	394						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGCAGCGGACGGACCATCTG	0.617000													12	147					0	0	0.435327	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529009	77529009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:77529009G>A	ENST00000373304.3	-	3	527	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	79					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAGACCACACGGAGAGGCAGT	0.423000													7	54					0	0	0.248553	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	39					0	0	0.115264	0	0
RASGRP1	10125	broad.mit.edu	37	15	38805096	38805096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:38805096C>T	ENST00000310803.5	-	7	914	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RASGRP1_ENST00000559830.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R198Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R297Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R246Q	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	246	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.R246Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCAATAGATCGCTCCATGGT	0.468000													3	18					0	0	0.115264	0	0
ZNF665	79788	broad.mit.edu	37	19	53669070	53669070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:53669070G>A	ENST00000600412.1	-	2	593	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.Q225*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGGATGACCTGATGGATTGTT	0.403000													7	69					0	0	0.278610	0	0
HNF1B	6928	broad.mit.edu	37	17	36091644	36091644	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:36091644C>T	ENST00000225893.4	-	4	1348	c.987G>A	c.(985-987)ctG>ctA	p.L329L	HNF1B_ENST00000561193.1_Silent_p.L303L|HNF1B_ENST00000560016.1_Silent_p.L329L|HNF1B_ENST00000427275.2_Silent_p.L303L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	329					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGTGGGAGAGCAGAGGGTTCA	0.587000													5	25					0	0	0.184627	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795796	69795796	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:69795796G>T	ENST00000251566.4	-	6	1349	c.1319C>A	c.(1318-1320)gCt>gAt	p.A440D	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A151D	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	440						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAATCTCATAGCATTCTCTTT	0.383000													8	48					0.000157383	0.000168545	0.278610	1	0
ABCA1	19	broad.mit.edu	37	9	107558478	107558478	+	Splice_Site	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr9:107558478C>G	ENST00000374736.3	-	39	5632	c.5237_splice	c.e39-1	p.G1746_splice		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1746				Missing (in Ref. 7; AAD49852).	Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGATTGACCACCTGTTGAGAC	0.512000													24	25					0	0	0.667858	0	0
GDPD4	220032	broad.mit.edu	37	11	76969569	76969569	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:76969569G>A	ENST00000315938.4	-	10	976	c.726C>T	c.(724-726)ttC>ttT	p.F242F	GDPD4_ENST00000376217.2_Silent_p.F242F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	242	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATGCATGAGGAAAGGCACAT	0.478000													30	109					0	0	0.729181	0	0
FAT1	2195	broad.mit.edu	37	4	187630504	187630504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:187630504C>A	ENST00000441802.2	-	2	687	c.478G>T	c.(478-480)Gaa>Taa	p.E160*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	160	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTGTGTTTTCAGGTAAAGAA	0.463000										HNSCC(5;0.00058)			24	137					7.87624e-14	8.9422e-14	0.639603	1	0
DSCAML1	57453	broad.mit.edu	37	11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617000													18	62					0	0	0.520397	0	0
LRFN5	145581	broad.mit.edu	37	14	42356945	42356945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:42356945C>T	ENST00000554171.1	+	5	3549	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	LRFN5_ENST00000554120.1_Missense_Mutation_p.H373Y|LRFN5_ENST00000298119.4_Missense_Mutation_p.H373Y			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	373	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTGGATCTTCATATAATTAA	0.403000										HNSCC(30;0.082)			11	54					0	0	0.361761	0	0
PABPC4	8761	broad.mit.edu	37	1	40034595	40034595	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:40034595T>C	ENST00000372857.3	-	6	1547	c.755A>G	c.(754-756)aAt>aGt	p.N252S	PABPC4_ENST00000372858.3_Missense_Mutation_p.N252S|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.N252S|PABPC4_ENST00000372856.3_Missense_Mutation_p.N252S|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	252	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTTTTCCATTCATCTCTTC	0.368000													19	85					0	0	0.539581	0	0
GPC5	2262	broad.mit.edu	37	13	92345977	92345977	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:92345977C>A	ENST00000377067.3	+	3	1234	c.862C>A	c.(862-864)Ctt>Att	p.L288I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	288						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATGGCGGAGCTTAATCCACA	0.532000													7	61					0.00307968	0.00325197	0.278610	1	0
CYP11B2	1585	broad.mit.edu	37	8	143999037	143999037	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:143999037C>G	ENST00000323110.2	-	1	222	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	74					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCCCCAGCTCCTGGAAGGTC	0.637000									Familial Hyperaldosteronism type I				12	58					0	0	0.387290	0	0
ZNF18	7566	broad.mit.edu	37	17	11895781	11895781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:11895781G>T	ENST00000322748.3	-	4	970	c.366C>A	c.(364-366)gaC>gaA	p.D122E	ZNF18_ENST00000580613.1_Missense_Mutation_p.D71E|ZNF18_ENST00000454073.3_Missense_Mutation_p.D122E|ZNF18_ENST00000580306.1_Missense_Mutation_p.D122E	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCTCTGGGGGTCCCCCTTCA	0.537000													8	57					5.18039e-06	5.70977e-06	0.278610	1	0
IRGC	56269	broad.mit.edu	37	19	44223209	44223209	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:44223209C>T	ENST00000244314.5	+	2	698	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	167						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTACTTTGTGCGCACCAAGGT	0.672000													3	32					0	0	0.115264	0	0
LRRC31	79782	broad.mit.edu	37	3	169557902	169557902	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:169557902C>G	ENST00000316428.5	-	9	1584	c.1527G>C	c.(1525-1527)gtG>gtC	p.V509V	LRRC31_ENST00000264676.5_Silent_p.V453V|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	509										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GAAGCTTGGTCACAGCATATA	0.413000													13	85					0	0	0.435327	0	0
ABCG4	64137	broad.mit.edu	37	11	119029006	119029006	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:119029006C>G	ENST00000307417.3	+	10	1495	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	ABCG4_ENST00000449422.2_Silent_p.L377L|ABCG4_ENST00000531739.1_Silent_p.L377L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	377					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTGCATCCTCTTCAAGAGGA	0.572000													42	315					0	0	0.847076	0	0
DOPEY2	9980	broad.mit.edu	37	21	37652617	37652617	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:37652617G>A	ENST00000399151.3	+	31	6089	c.6004G>A	c.(6004-6006)Gag>Aag	p.E2002K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2002					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGACTCATGAGAAAACAAT	0.308000													9	30					0	0	0.335167	0	0
SI	6476	broad.mit.edu	37	3	164767620	164767620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:164767620C>T	ENST00000264382.3	-	14	1618	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	519	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACATTACATCCTTTTGTTGA	0.284000										HNSCC(35;0.089)			8	52					0	0	0.335167	0	0
ZNF831	128611	broad.mit.edu	37	20	57766526	57766526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:57766526G>A	ENST00000371030.2	+	1	452	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACTGTGGTCGCGACTGCCTG	0.662000													30	105					0	0	0.717897	0	0
CTCFL	140690	broad.mit.edu	37	20	56087700	56087700	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:56087700T>C	ENST00000429804.2	-	7	1849	c.1289A>G	c.(1288-1290)cAt>cGt	p.H430R	CTCFL_ENST00000502686.2_Missense_Mutation_p.H218R|CTCFL_ENST00000433949.2_Missense_Mutation_p.H480R|CTCFL_ENST00000539382.1_Missense_Mutation_p.H275R|CTCFL_ENST00000371196.2_Missense_Mutation_p.H480R|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.H480R|CTCFL_ENST00000422869.2_Missense_Mutation_p.H480R|CTCFL_ENST00000423479.2_Missense_Mutation_p.H480R|CTCFL_ENST00000422109.2_Intron	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	480					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCATTCTTATGAGTTTTCTG	0.458000													10	64					0	0	0.387290	0	0
TMEM179B	374395	broad.mit.edu	37	11	62556844	62556844	+	Missense_Mutation	SNP	G	G	A	rs146539259		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:62556844G>A	ENST00000333449.4	+	3	370	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	TMEM179B_ENST00000533861.1_Missense_Mutation_p.R122Q|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	122						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGTATCCTTCGATTTGGCACC	0.537000													5	29					0	0	0.217242	0	0
DOK4	55715	broad.mit.edu	37	16	57509069	57509069	+	Missense_Mutation	SNP	C	C	T	rs111834942	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:57509069C>T	ENST00000566936.1	-	4	649	c.352G>A	c.(352-354)Gac>Aac	p.D118N	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.D118N|DOK4_ENST00000569548.1_Missense_Mutation_p.D118N			Q8TEW6	DOK4_HUMAN	docking protein 4	118							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGACTGATGTCGTTGAGGCGG	0.612000													21	90					0	0	0.667858	0	0
TIMP1	7076	broad.mit.edu	37	X	47442865	47442865	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:47442865G>A	ENST00000456754.2	+	2	126	c.51G>A	c.(49-51)ctG>ctA	p.L17L	TIMP1_ENST00000218388.4_Silent_p.L17L|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_5'UTR			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	17					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						TGCTGTGGCTGATAGCCCCCA	0.652000													6	64					0	0	0.217242	0	0
FAM118B	79607	broad.mit.edu	37	11	126126666	126126666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:126126666A>G	ENST00000533050.1	+	7	1394	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	FAM118B_ENST00000360194.4_Missense_Mutation_p.I301V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	301										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GATTAAAGTCATCTCCTATGG	0.433000													53	168					0	0	0.870114	0	0
UBE3B	89910	broad.mit.edu	37	12	109972414	109972414	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:109972414G>T	ENST00000342494.3	+	28	3629	c.3034G>T	c.(3034-3036)Ggc>Tgc	p.G1012C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1012C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1012	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGACACTCTGGGCAGCGTCCT	0.652000													12	40					7.03913e-09	7.8155e-09	0.411799	1	0
POLDIP3	84271	broad.mit.edu	37	22	42999092	42999092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:42999092G>A	ENST00000252115.5	-	2	238	c.134C>T	c.(133-135)aCa>aTa	p.T45I	POLDIP3_ENST00000348657.2_Missense_Mutation_p.T45I|POLDIP3_ENST00000339677.6_Missense_Mutation_p.T45I	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	45					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGCTGTGCGTGTTGACTGGCT	0.527000													5	69					0	0	0.217242	0	0
MFI2	4241	broad.mit.edu	37	3	196735818	196735818	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:196735818T>C	ENST00000296350.5	-	12	1657	c.1544A>G	c.(1543-1545)aAt>aGt	p.N515S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	515	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCAGCTGGCATTGAAGAACTC	0.642000													48	75					0	0	0.870114	0	0
STARD13	90627	broad.mit.edu	37	13	33703846	33703846	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:33703846A>T	ENST00000336934.5	-	5	1084	c.968T>A	c.(967-969)cTc>cAc	p.L323H	STARD13_ENST00000399365.3_Missense_Mutation_p.L205H|STARD13_ENST00000255486.4_Missense_Mutation_p.L315H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	323					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGCATGGGAGCCCTTTTCT	0.597000													4	42					0	0	0.217242	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319815	21319815	+	Silent	SNP	C	C	T	rs144041366		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:21319815C>T	ENST00000583088.1	+	3	2056	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	KCNJ12_ENST00000331718.5_Silent_p.D387D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGAGCCGTGACGAGGAGGATG	0.662000										Prostate(3;0.18)			4	58					0	0	0.150653	0	0
PDE4A	5141	broad.mit.edu	37	19	10571734	10571734	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:10571734G>A	ENST00000380702.2	+	12	1354	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PDE4A_ENST00000352831.6_Missense_Mutation_p.D474N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	474	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCCATCCACGATGTGGATCA	0.597000													6	20					0	0	0.217242	0	0
MATN4	8785	broad.mit.edu	37	20	43932984	43932984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:43932984G>A	ENST00000537548.1	-	4	771	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MATN4_ENST00000372756.1_Missense_Mutation_p.A176V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.A176V|MATN4_ENST00000360607.5_Missense_Mutation_p.A176V|MATN4_ENST00000353917.5_Missense_Mutation_p.A176V|MATN4_ENST00000342716.4_Missense_Mutation_p.A176V			O95460	MATN4_HUMAN	matrilin 4	176	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCCCACGTCCGCGCGCTGCAC	0.692000													7	36					0	0	0.248553	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	100					0	0	0.115264	0	0
RALYL	138046	broad.mit.edu	37	8	85799988	85799988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:85799988G>A	ENST00000521268.1	+	8	1940	c.835G>A	c.(835-837)Gat>Aat	p.D279N	RALYL_ENST00000522455.1_Missense_Mutation_p.D279N|RALYL_ENST00000518566.1_Missense_Mutation_p.D268N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.D292N|RALYL_ENST00000521695.1_Missense_Mutation_p.D279N|RALYL_ENST00000523850.1_Missense_Mutation_p.D206N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	279							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGAGGACTTCGATGAAGATGG	0.458000													12	72					0	0	0.387290	0	0
FAT4	79633	broad.mit.edu	37	4	126239489	126239489	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:126239489G>A	ENST00000394329.3	+	1	1936	c.1923G>A	c.(1921-1923)ttG>ttA	p.L641L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	641	Cadherin 6.				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						CTGGGAGGTTGAGTACTATTT	0.567000													7	25					0	0	0.248553	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799105	20799105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:20799105G>A	ENST00000327925.5	-	1	348	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	77										large_intestine(3)|lung(3)|skin(1)	7						TCTTCCAGGCGGACATCGTGC	0.642000													15	69					0	0	0.624587	0	0
NCL	4691	broad.mit.edu	37	2	232323778	232323778	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:232323778T>C	ENST00000322723.4	-	7	1339	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	367	RRM 1.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCAAACCAGTGAGTTCCAAC	0.378000													29	46					0	0	0.769981	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722774	64722774	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:64722774G>A	ENST00000338957.4	+	5	2263	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	ZC3H12B_ENST00000423889.3_Silent_p.P721P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	721							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGGACCCGCTGCCCTGTA	0.577000													14	27					0	0	0.435327	0	0
ELFN2	114794	broad.mit.edu	37	22	37770765	37770765	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:37770765G>A	ENST00000402918.1	-	3	1595	c.810C>T	c.(808-810)gaC>gaT	p.D270D	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.D270D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	270						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGAGTTCTCGTCTGGCTCCC	0.687000													9	40					0	0	0.307466	0	0
DLG5	9231	broad.mit.edu	37	10	79555860	79555860	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:79555860C>T	ENST00000372391.2	-	29	5400	c.5395G>A	c.(5395-5397)Gat>Aat	p.D1799N	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.D1459N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1799	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTGGTCACATCGAAATGGCCG	0.517000													19	52					0	0	0.592651	0	0
TGM5	9333	broad.mit.edu	37	15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:43552685G>A	ENST00000220420.5	-	2	110	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_ENST00000349114.4_Missense_Mutation_p.R35W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	35					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572000													18	134					0	0	0.520397	0	0
MDN1	23195	broad.mit.edu	37	6	90368044	90368044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:90368044C>G	ENST00000369393.3	-	90	15182	c.15067G>C	c.(15067-15069)Gag>Cag	p.E5023Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E5023Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5023					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCAAAGCCTCTGGCACCTGC	0.552000													17	65					0	0	0.575678	0	0
DOCK11	139818	broad.mit.edu	37	X	117699986	117699986	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:117699986C>T	ENST00000276204.6	+	8	786	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	DOCK11_ENST00000276202.7_Missense_Mutation_p.H238Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	238	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATGCGCCGTCATGCTTTTGA	0.333000													20	185					0	0	0.592651	0	0
AHI1	54806	broad.mit.edu	37	6	135769486	135769486	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:135769486C>G	ENST00000367800.4	-	10	1784	c.1568G>C	c.(1567-1569)aGa>aCa	p.R523T	AHI1_ENST00000457866.2_Missense_Mutation_p.R523T|AHI1_ENST00000327035.6_Missense_Mutation_p.R523T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	523						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTAATGATTTCTTGGACATTT	0.383000													7	32					0	0	0.278610	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661761	139661761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:139661761C>T	ENST00000263552.6	+	13	1404	c.866C>T	c.(865-867)tCt>tTt	p.S289F	TBXAS1_ENST00000436047.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S221F|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S335F|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S288F|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S334F|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S288F	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	288					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCCCGACATTCTGCAAGTCCC	0.522000													9	26					0	0	0.335167	0	0
FSIP2	401024	broad.mit.edu	37	2	186672082	186672082	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:186672082A>T	ENST00000343098.5	+	17	18316	c.18316A>T	c.(18316-18318)Att>Ttt	p.I6106F	FSIP2_ENST00000424728.1_Missense_Mutation_p.I6017F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAGAATGTGATTTCTGCTCT	0.338000													11	65					0	0	0.387290	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129663445	129663445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:129663445C>T	ENST00000358303.4	-	8	1223	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R337Q|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R359Q|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	380					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCATGCTTCGGGTCACTGG	0.617000													19	99					0	0	0.592651	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256141	58256141	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:58256141C>T	ENST00000249750.4	-	9	1795	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314Q|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	343					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTCTTGGCCCGCTCCACGCT	0.527000													9	56					0	0	0.335167	0	0
EXOSC7	23016	broad.mit.edu	37	3	45052755	45052755	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:45052755A>T	ENST00000265564.7	+	8	848	c.800A>T	c.(799-801)cAt>cTt	p.H267L	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	267					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGGTACTGCATGCCTCCTTG	0.532000													3	11					0	0	0.150653	0	0
OR2J3	442186	broad.mit.edu	37	6	29080240	29080240	+	Silent	SNP	G	G	A	rs138982330	by1000genomes	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:29080240G>A	ENST00000377169.1	+	1	573	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCGATTATCGTGTGTTGATA	0.463000													19	49					0	0	0.539581	0	0
MYOF	26509	broad.mit.edu	37	10	95191243	95191243	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:95191243C>A	ENST00000371501.4	-	4	389	c.267G>T	c.(265-267)aaG>aaT	p.K89N	MYOF_ENST00000371502.4_Missense_Mutation_p.K89N|MYOF_ENST00000358334.5_Missense_Mutation_p.K89N|MYOF_ENST00000359263.4_Missense_Mutation_p.K89N|MYOF_ENST00000371489.1_Missense_Mutation_p.K89N|MYOF_ENST00000371488.3_Missense_Mutation_p.K89N			Q9NZM1	MYOF_HUMAN	myoferlin	89					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGTCAGGTCCTTCAGGGCTA	0.498000													11	27					0.000673444	0.000716127	0.361761	1	0
PAN2	9924	broad.mit.edu	37	12	56718209	56718209	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:56718209G>A	ENST00000425394.2	-	12	2173	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PAN2_ENST00000548043.1_Silent_p.D599D|PAN2_ENST00000440411.3_Silent_p.D599D|PAN2_ENST00000257931.5_Silent_p.D599D	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	599					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTCATCTGAGTCAGCCAGGA	0.498000													5	51					0	0	0.184627	0	0
KCNK5	8645	broad.mit.edu	37	6	39158899	39158899	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:39158899C>T	ENST00000359534.3	-	5	1605	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	423					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCCGTGTTCACGAAGGTGATG	0.617000													19	26					0	0	0.575678	0	0
DUSP11	8446	broad.mit.edu	37	2	73993700	73993700	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:73993700G>C	ENST00000272444.3	-	8	821	c.780C>G	c.(778-780)ccC>ccG	p.P260P	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	213					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CACTTGACCTGGGTACACTGG	0.373000													6	76					0	0	0.217242	0	0
RANBP17	64901	broad.mit.edu	37	5	170336684	170336684	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:170336684C>T	ENST00000523189.1	+	6	673	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	170					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTAGACCTTCAGCAAAACAC	0.289000			T	TRD@	ALL								4	32					0	0	0.150653	0	0
GK2	2712	broad.mit.edu	37	4	80328687	80328687	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:80328687A>G	ENST00000358842.3	-	1	685	c.668T>C	c.(667-669)tTt>tCt	p.F223S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	223					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGAATTTCAAAAAAGTCACA	0.398000													16	70					0	0	0.557998	0	0
CLCN2	1181	broad.mit.edu	37	3	184074822	184074822	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:184074822C>T	ENST00000265593.4	-	10	1215	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Silent_p.V348V|CLCN2_ENST00000344937.7_Silent_p.V348V|CLCN2_ENST00000434054.2_Silent_p.V304V	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	348						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTTCCGCATCACCTGGACAA	0.522000													7	27					0	0	0.248553	0	0
ZNF195	7748	broad.mit.edu	37	11	3380843	3380843	+	Silent	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:3380843G>T	ENST00000354599.6	-	4	1283	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.P446P|ZNF195_ENST00000399602.4_Silent_p.P465P|ZNF195_ENST00000005082.9_Silent_p.P442P|ZNF195_ENST00000343338.7_Silent_p.P397P|ZNF195_ENST00000429541.2_Silent_p.P397P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	465				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACATTGGTAGGGTTTCTCTC	0.443000													17	55					7.07596e-05	7.74254e-05	0.539581	1	0
EXPH5	23086	broad.mit.edu	37	11	108385200	108385200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:108385200G>A	ENST00000265843.4	-	6	1144	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	EXPH5_ENST00000428840.1_Missense_Mutation_p.P269L|EXPH5_ENST00000525344.1_Missense_Mutation_p.P338L|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.P157L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	345					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTTGTGGCTGGAAAATGTAA	0.468000													4	85					0	0	0.150653	0	0
GDI1	2664	broad.mit.edu	37	X	153670046	153670046	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153670046G>A	ENST00000447750.2	+	8	1231	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	299					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTTATCCGCATCATCTGT	0.572000													7	90					0	0	0.248553	0	0
SACS	26278	broad.mit.edu	37	13	23906534	23906534	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:23906534C>T	ENST00000382298.3	-	10	12069	c.11481G>A	c.(11479-11481)aaG>aaA	p.K3827K	SACS_ENST00000402364.1_Silent_p.K3077K|SACS_ENST00000382292.3_Silent_p.K3827K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3827					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAAAGGTAGCTTGTACAAAT	0.358000													14	54					0	0	0.457914	0	0
TENM1	10178	broad.mit.edu	37	X	124097537	124097537	+	Silent	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:124097537A>T	ENST00000422452.2	-	1	129	c.66T>A	c.(64-66)gcT>gcA	p.A22A	TENM1_ENST00000371130.3_Silent_p.A22A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AACTGGTGTAAGCTAGATCCA	0.443000													32	251					0	0	0.750413	0	0
NRXN3	9369	broad.mit.edu	37	14	79933658	79933658	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:79933658C>T	ENST00000281127.7	+	2	1221	c.342C>T	c.(340-342)gcC>gcT	p.A114A	NRXN3_ENST00000335750.5_Silent_p.A746A|NRXN3_ENST00000554719.1_Silent_p.A746A|NRXN3_ENST00000557594.1_Silent_p.A114A|NRXN3_ENST00000428277.2_Silent_p.A114A|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	114	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCGCCTTGCCGTGGGCTTCA	0.577000													15	50					0	0	0.457914	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671551	238671551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:238671551G>A	ENST00000244815.5	+	10	1363	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D343N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.D399N|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	399					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TGCACCAGATGACAGGACCAG	0.493000													8	68					0	0	0.278610	0	0
FAM46D	169966	broad.mit.edu	37	X	79698631	79698631	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:79698631C>A	ENST00000538312.1	+	5	927	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	FAM46D_ENST00000308293.5_Missense_Mutation_p.S198Y	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	198										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACCAAAGAATCCTATCCTGTT	0.403000													4	66					0.150653	0.152676	0.150653	1	0
ATP10B	23120	broad.mit.edu	37	5	159992867	159992867	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:159992867G>C	ENST00000327245.5	-	26	4825	c.3979C>G	c.(3979-3981)Cta>Gta	p.L1327V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1327					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGAGATTAGAGACTTCCCA	0.443000													16	111					0	0	0.539581	0	0
FAM178B	51252	broad.mit.edu	37	2	97543720	97543720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:97543720C>A	ENST00000417561.3	-	20	2357	c.2358G>T	c.(2356-2358)gaG>gaT	p.E786D	FAM178B_ENST00000393526.2_Missense_Mutation_p.E78D|FAM178B_ENST00000327896.3_Missense_Mutation_p.E606D|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000490605.2_Missense_Mutation_p.E638D			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	786										large_intestine(1)|ovary(1)	2						CCTGGGGGCTCTCCCGGATCT	0.652000													4	25					0.150653	0.152676	0.150653	1	0
GNAZ	2781	broad.mit.edu	37	22	23465286	23465286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:23465286G>A	ENST00000248996.4	+	3	1402	c.736G>A	c.(736-738)Gag>Aag	p.E246K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	246						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGGATGGCAGAGAGCTTGCG	0.542000													12	41					0	0	0.435327	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818042	77818042	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:77818042C>T	ENST00000334306.2	-	1	960	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	321																	GGGCCCTGATCACGGGCCTCG	0.672000													6	19					0	0	0.217242	0	0
GJA9	81025	broad.mit.edu	37	1	39340697	39340697	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:39340697A>C	ENST00000454994.2	-	2	1350	c.1074T>G	c.(1072-1074)ttT>ttG	p.F358L	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.F358L|GJA9_ENST00000357771.3_Missense_Mutation_p.F358L			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	358					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTCTTTTCCAAATATTTTAT	0.343000													8	40					0	0	0.278610	0	0
EPHX4	253152	broad.mit.edu	37	1	92495738	92495738	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:92495738C>T	ENST00000370383.4	+	1	200	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	34						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCGCCTCCATCCACCTGCTCA	0.697000													4	4					0	0	0.150653	0	0
ARNT2	9915	broad.mit.edu	37	15	80845025	80845025	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:80845025G>A	ENST00000533983.1	+	11	1305	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ARNT2_ENST00000303329.4_Silent_p.V333V|ARNT2_ENST00000527771.1_Silent_p.V322V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	333					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGATGTCGGTGCCCACAGAGT	0.498000													9	85					0	0	0.307466	0	0
METAP1	23173	broad.mit.edu	37	4	99982433	99982433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:99982433G>C	ENST00000296411.6	+	11	1260	c.1126G>C	c.(1126-1128)Gac>Cac	p.D376H	METAP1_ENST00000544031.1_Missense_Mutation_p.D326H	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	376					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CCGGCGACTTGACAGTGCACG	0.488000													6	54					0	0	0.217242	0	0
CBS	875	broad.mit.edu	37	21	44474014	44474014	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:44474014G>A	ENST00000398165.3	-	17	1891	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	CBS_ENST00000359624.3_Silent_p.A544A|CBS_ENST00000352178.5_Silent_p.A544A|CBS_ENST00000544202.1_Silent_p.A456A|CBS_ENST00000398158.1_Silent_p.A544A|CBS_ENST00000398168.1_Silent_p.A558A	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	544					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCTCCTGGGCGGCCACGAAGT	0.647000													6	36					0	0	0.248553	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719439	45719439	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:45719439G>A	ENST00000413988.1	-	9	873	c.833C>T	c.(832-834)tCg>tTg	p.S278L	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.S278L|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	278										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCAGCCACGAGGCCTGGGA	0.617000													5	33					0	0	0.217242	0	0
WNK1	65125	broad.mit.edu	37	12	970337	970337	+	Silent	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:970337A>G	ENST00000537687.1	+	7	2422	c.1779A>G	c.(1777-1779)gtA>gtG	p.V593V	WNK1_ENST00000315939.6_Silent_p.V593V|WNK1_ENST00000530271.2_Silent_p.V593V|WNK1_ENST00000340908.4_Silent_p.V186V|WNK1_ENST00000535572.1_Silent_p.V593V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	593					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACAGCAGGTAGAACAATCCA	0.473000													25	85					0	0	0.639603	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	40					0	0	0.115264	0	0
VCAN	1462	broad.mit.edu	37	5	82834287	82834287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:82834287C>T	ENST00000265077.3	+	8	6030	c.5465C>T	c.(5464-5466)aCc>aTc	p.T1822I	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T835I|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1822	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAGGGCTGACCACTCTCCCA	0.488000													37	59					0	0	0.796494	0	0
UBE3B	89910	broad.mit.edu	37	12	109972413	109972413	+	Silent	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:109972413G>T	ENST00000342494.3	+	28	3628	c.3033G>T	c.(3031-3033)ctG>ctT	p.L1011L	UBE3B_ENST00000434735.2_Silent_p.L1011L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1011	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGACACTCTGGGCAGCGTCC	0.652000													12	41					7.03913e-09	7.8155e-09	0.411799	1	0
KIAA1024	23251	broad.mit.edu	37	15	79755583	79755583	+	Missense_Mutation	SNP	C	C	T	rs61746211	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:79755583C>T	ENST00000305428.3	+	3	2548	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	825						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAGGTGAAGCGGGGCCAACC	0.617000													7	63					0	0	0.248553	0	0
ZAN	7455	broad.mit.edu	37	7	100345764	100345764	+	RNA	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:100345764C>T	ENST00000542585.1	+	0	1176				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCAGTTTGCCGTGGTAGGC	0.587000													3	21					0	0	0.150653	0	0
HS6ST2	90161	broad.mit.edu	37	X	132091167	132091167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:132091167G>A	ENST00000370836.2	-	3	1031	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	HS6ST2_ENST00000370833.2_Missense_Mutation_p.P60S|HS6ST2_ENST00000521489.1_Missense_Mutation_p.P206S|HS6ST2_ENST00000370837.1_Missense_Mutation_p.P60S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	206						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTAGCGGGGCACGAACCTG	0.652000													15	43					0	0	0.479597	0	0
BRD1	23774	broad.mit.edu	37	22	50181097	50181097	+	Missense_Mutation	SNP	C	C	T	rs140147452		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50181097C>T	ENST00000216267.8	-	7	2891	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	BRD1_ENST00000342989.5_Missense_Mutation_p.R528Q|BRD1_ENST00000404760.1_Missense_Mutation_p.R933Q|BRD1_ENST00000457780.2_Missense_Mutation_p.G906R|BRD1_ENST00000542442.1_Missense_Mutation_p.R490Q|BRD1_ENST00000404034.1_Missense_Mutation_p.R802Q	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	802					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCATGTGCTCCGCGACCTTTT	0.602000													9	39					0	0	0.335167	0	0
SNX8	29886	broad.mit.edu	37	7	2317747	2317747	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2317747C>T	ENST00000222990.3	-	2	330	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	96	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCTGGAAACCTCATACTCCA	0.582000													3	53					0	0	0.115264	0	0
TAF7L	54457	broad.mit.edu	37	X	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	rs145455495		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398000													95	165					0	0	0.870114	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181835	81181835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:81181835G>A	ENST00000394685.3	+	10	1407	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D330N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D330N			Q8WUJ3	K1199_HUMAN	KIAA1199	330										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGTGGTTCGATCATGATAA	0.473000													5	57					0	0	0.248553	0	0
RENBP	5973	broad.mit.edu	37	X	153207481	153207481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153207481C>T	ENST00000393700.3	-	7	771	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RENBP_ENST00000412763.1_Intron|RENBP_ENST00000369997.3_Missense_Mutation_p.D217N	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	231					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTGTCCATCCCTCTACCGG	0.617000													7	107					0	0	0.248553	0	0
PAK7	57144	broad.mit.edu	37	20	9561425	9561425	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:9561425G>A	ENST00000378429.3	-	5	903	c.357C>T	c.(355-357)caC>caT	p.H119H	PAK7_ENST00000353224.5_Silent_p.H119H|PAK7_ENST00000378423.1_Silent_p.H119H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	119	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCTTCCGCGTGGCCTGGAC	0.527000													19	141					0	0	0.575678	0	0
MRPL9	65005	broad.mit.edu	37	1	151735515	151735515	+	Silent	SNP	C	C	T	rs148707904		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:151735515C>T	ENST00000368830.3	-	2	345	c.261G>A	c.(259-261)aaG>aaA	p.K87K	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Silent_p.K87K|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	87					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGCCGATGCTTCGTGTCCT	0.647000													40	57					0	0	0.819951	0	0
C3orf84	646498	broad.mit.edu	37	3	49215451	49215451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:49215451C>T	ENST00000545770.2	-	4	319	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	C3orf84_ENST00000432035.2_Missense_Mutation_p.R79Q|C3orf84_ENST00000443990.1_5'UTR	NM_001080528.2	NP_001073997.2			chromosome 3 open reading frame 84																		CAGGTCCTTCCGCCTTCCGAT	0.627000													5	25					0	0	0.248553	0	0
LTBP3	4054	broad.mit.edu	37	11	65315474	65315474	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:65315474C>T	ENST00000301873.5	-	12	2031	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	LTBP3_ENST00000322147.4_Missense_Mutation_p.G588E|LTBP3_ENST00000536982.1_Missense_Mutation_p.G214E|LTBP3_ENST00000532932.1_Missense_Mutation_p.G18E	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	588	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACGCACTCTCCGTGGCCACA	0.657000													13	49					0	0	0.411799	0	0
IGSF8	93185	broad.mit.edu	37	1	160061631	160061631	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:160061631C>A	ENST00000368086.1	-	6	2040	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	IGSF8_ENST00000314485.7_Missense_Mutation_p.K608N			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	608					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCGAAGCCTCTTCATGAAGC	0.557000													3	56					0.00909568	0.00953783	0.150653	1	0
TTYH3	80727	broad.mit.edu	37	7	2687663	2687663	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2687663C>T	ENST00000258796.7	+	5	902	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.R62C	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	233						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGGCCTCATCCGCAGCTCCAA	0.682000													8	51					0	0	0.307466	0	0
ZNF670	93474	broad.mit.edu	37	1	247201259	247201259	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:247201259C>G	ENST00000366503.2	-	4	820	c.662G>C	c.(661-663)gGa>gCa	p.G221A		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGGTTTCTCTCCAGTATGAGT	0.358000													7	20					0	0	0.278610	0	0
SH2D4A	63898	broad.mit.edu	37	8	19192276	19192276	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:19192276C>A	ENST00000265807.3	+	4	832	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q96K|SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q141K	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	141						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGATAACCAGCAGACTAAAGA	0.458000													4	40					0.150653	0.152676	0.150653	1	0
ABL1	25	broad.mit.edu	37	9	133760623	133760623	+	Silent	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr9:133760623C>A	ENST00000318560.5	+	11	3327	c.2946C>A	c.(2944-2946)ccC>ccA	p.P982P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	982	F-actin-binding.|Pro-rich.			P -> PL (in Ref. 1; AAA51561).	actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCCGTTCCCTCCACGTTGC	0.657000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								3	55					0.115264	0.120034	0.115264	1	0
KIF4A	24137	broad.mit.edu	37	X	69510292	69510292	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:69510292G>A	ENST00000374403.3	+	0	66				KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_De_novo_Start_OutOfFrame	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCGCAGAGACGGTGCTGAGAT	0.592000													8	53					0	0	0.307466	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013048	107013048	+	RNA	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:107013048C>T	ENST00000390625.2	-	0	326																											TTCACAGACGCGGCGTATTCT	0.493000													19	71					0	0	0.557998	0	0
POLE	5426	broad.mit.edu	37	12	133202825	133202825	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:133202825C>T	ENST00000320574.5	-	46	6452	c.6409G>A	c.(6409-6411)Gag>Aag	p.E2137K	POLE_ENST00000535270.1_Missense_Mutation_p.E2110K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2137					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCGGAGAACTCGCCGACATCC	0.602000								DNA polymerases (catalytic subunits)					4	25					0	0	0.150653	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850557	58850557	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58850557G>C	ENST00000329665.4	+	3	1488	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCTTTGCACAGAGCTCCTCCC	0.557000													7	58					0	0	0.248553	0	0
ZNF649	65251	broad.mit.edu	37	19	52394690	52394690	+	Silent	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:52394690G>T	ENST00000354957.3	-	5	983	c.699C>A	c.(697-699)ccC>ccA	p.P233P	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TACACCCGTGGGGTTTCTCTC	0.502000													13	61					0.000151284	0.000163171	0.435327	1	0
MROH1	727957	broad.mit.edu	37	8	145235410	145235410	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:145235410C>T	ENST00000528919.1	+	6	667	c.546C>T	c.(544-546)cgC>cgT	p.R182R	MROH1_ENST00000398656.4_Silent_p.R182R|MROH1_ENST00000423230.2_Silent_p.R182R|MROH1_ENST00000326134.5_Silent_p.R182R|MROH1_ENST00000534366.1_Silent_p.R182R	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		ACACGGTGCGCGTGGCCTTCT	0.657000													12	44					0	0	0.387290	0	0
DPP10	57628	broad.mit.edu	37	2	116485494	116485494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:116485494G>C	ENST00000410059.1	+	8	1159	c.679G>C	c.(679-681)Gct>Cct	p.A227P	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.A231P|DPP10_ENST00000310323.8_Missense_Mutation_p.A220P|DPP10_ENST00000409163.1_Missense_Mutation_p.A177P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	227					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAATGGGATTGCTGACTGGTT	0.284000													4	36					0	0	0.150653	0	0
GRIA3	2892	broad.mit.edu	37	X	122561966	122561966	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:122561966C>T	ENST00000264357.5	+	12	2344	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	GRIA3_ENST00000542149.1_Silent_p.S684S|GRIA3_ENST00000371251.1_Silent_p.S684S|GRIA3_ENST00000371256.5_Silent_p.S684S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	684					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CCCTGGACTCCGGTTCAACAA	0.423000													6	82					0	0	0.248553	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226463	79226463	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:79226463C>T	ENST00000374759.3	-	13	1860	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC38A10_ENST00000288439.5_Missense_Mutation_p.E493K	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	493					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGGCCTCGCCCACAGGC	0.607000													15	41					0	0	0.479597	0	0
CA11	770	broad.mit.edu	37	19	49143424	49143424	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:49143424C>G	ENST00000084798.4	-	4	1078	c.399G>C	c.(397-399)ctG>ctC	p.L133L	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	133						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		ACAGCAGCCGCAGTTCACTGA	0.592000													20	53					0	0	0.592651	0	0
ZNF99	7652	broad.mit.edu	37	19	22939423	22939423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:22939423G>T	ENST00000397104.3	-	7	2747	c.2748C>A	c.(2746-2748)taC>taA	p.Y916*						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTACGGTTTCT	0.378000													6	26					8.12818e-05	8.8299e-05	0.248553	1	0
MAP3K4	4216	broad.mit.edu	37	6	161508788	161508788	+	Silent	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:161508788T>C	ENST00000392142.4	+	10	2773	c.2625T>C	c.(2623-2625)atT>atC	p.I875I	MAP3K4_ENST00000366919.2_Silent_p.I875I|MAP3K4_ENST00000366920.2_Silent_p.I875I|MAP3K4_ENST00000348824.7_Silent_p.I875I	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	875					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAAGAGTATTATTTTGCAGT	0.413000													3	82					0	0	0.150653	0	0
UNC5D	137970	broad.mit.edu	37	8	35579850	35579850	+	Missense_Mutation	SNP	G	G	A	rs149536132		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:35579850G>A	ENST00000287272.2	+	8	1092	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	UNC5D_ENST00000404895.2_Missense_Mutation_p.V414I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V419I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V409I|UNC5D_ENST00000420357.1_Missense_Mutation_p.V347I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	414	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity	p.V409F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGCGTGGACGTCATTGACTC	0.557000													25	144					0	0	0.681144	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74801835	74801835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:74801835G>A	ENST00000380494.5	-	3	880	c.587C>T	c.(586-588)tCc>tTc	p.S196F	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S68F|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S68F	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	68					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGACAGATGGATCCTCTGCA	0.393000													6	67					0	0	0.278610	0	0
GRM7	2917	broad.mit.edu	37	3	6903381	6903381	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:6903381C>T	ENST00000486284.1	+	1	580	c.306C>T	c.(304-306)ggC>ggT	p.G102G	GRM7_ENST00000402647.2_Silent_p.G102G|GRM7_ENST00000389336.4_Silent_p.G102G|GRM7_ENST00000357716.4_Silent_p.G102G|GRM7_ENST00000403881.1_Silent_p.G102G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	102					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGACGCTGGGCGCGCGGATCC	0.587000													4	15					0	0	0.150653	0	0
NUP93	9688	broad.mit.edu	37	16	56875619	56875619	+	Silent	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:56875619C>A	ENST00000564887.1	+	19	2483	c.1854C>A	c.(1852-1854)atC>atA	p.I618I	NUP93_ENST00000542526.1_Silent_p.I618I|NUP93_ENST00000569842.1_Silent_p.I741I|NUP93_ENST00000308159.5_Silent_p.I741I	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	741					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTATGTAGATCAGGCACAACC	0.522000													16	113					4.14922e-12	4.67561e-12	0.500413	1	0
PDGFRB	5159	broad.mit.edu	37	5	149512334	149512334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:149512334G>A	ENST00000261799.4	-	7	1575	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	369	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTTGCGCGTGGACAGGGC	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	20					0	0	0.150653	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			9	30					0	0	0.361761	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749234	79749234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:79749234G>T	ENST00000305428.3	+	2	820	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	249						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGAGCCATTTGTGGTCCAGTC	0.478000													5	69					0.184627	0.185858	0.184627	1	0
ZNF2	7549	broad.mit.edu	37	2	95846873	95846873	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:95846873C>T	ENST00000398107.2	+	4	696	c.174C>T	c.(172-174)caC>caT	p.H58H	ZNF2_ENST00000295210.6_Silent_p.H62H|ZNF2_ENST00000425369.1_Silent_p.H20H|ZNF2_ENST00000453539.2_Silent_p.H113H|ZNF2_ENST00000340539.5_Silent_p.H100H	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	100	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CTGAGATTCACGATGCTTCAG	0.423000													13	68					0	0	0.457914	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179925	161179925	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:161179925G>C	ENST00000392179.4	+	7	966	c.727G>C	c.(727-729)Gac>Cac	p.D243H	NDUFS2_ENST00000367993.3_Missense_Mutation_p.D243H|NDUFS2_ENST00000476409.2_Missense_Mutation_p.D145H|NDUFS2_ENST00000465923.1_3'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	243					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GCTTATGGATGACATTTATCA	0.502000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	0.411799	0	0
MUC2	4583	broad.mit.edu	37	11	1098725	1098725	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:1098725G>C	ENST00000441003.2	+	37	7122	c.7095G>C	c.(7093-7095)tcG>tcC	p.S2365S	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4727						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCCGGGCTCGAGCCTGGAGT	0.647000													2	5					0	0	0.115264	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549914	34549914	+	Missense_Mutation	SNP	G	G	A	rs121908429		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:34549914G>A	ENST00000354181.3	-	6	1111	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	SLC12A6_ENST00000397702.2_Missense_Mutation_p.R148C|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R156C|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R198C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R192C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R148C|SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	207					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CATGTAAGGCGTAAAAAAAGG	0.443000													3	30					0	0	0.115264	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141090	239141090	+	RNA	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:239141090C>T	ENST00000456601.1	+	0	766																											TCAGATTGCGCGGTCTCTTTG	0.488000													11	22					0	0	0.361761	0	0
BCL11A	53335	broad.mit.edu	37	2	60688817	60688817	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:60688817G>A	ENST00000335712.6	-	4	1457	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.C376C|BCL11A_ENST00000537768.1_Silent_p.C79C|BCL11A_ENST00000356842.4_Silent_p.C410C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.C376C	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	410					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACGCGTGGTCGCACAGGTTGC	0.597000			T	IGH@	B-CLL								18	84					0	0	0.539581	0	0
ZBTB49	166793	broad.mit.edu	37	4	4301683	4301683	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:4301683T>C	ENST00000337872.4	+	2	132	c.11T>C	c.(10-12)gTt>gCt	p.V4A	ZBTB49_ENST00000355834.3_Missense_Mutation_p.V4A|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ATGGACCCTGTTGCTACCCAC	0.463000													11	72					0	0	0.387290	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466368	120466368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:120466368delT	ENST00000256646.2	-	26	4970	c.4751delA	c.(4750-4752)cgfs	p.Q1584fs	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1584	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTTCCCCCTGGGAGTCCCG	0.542			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				19	47	---	---	---	---					
KIF3C	3797	broad.mit.edu	37	2	26203995	26203996	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:26203995_26203996insG	ENST00000264712.3	-	1	1370_1371	c.791_792insC	c.(790-792)ggcfs	p.G264fs	KIF3C_ENST00000405914.1_Frame_Shift_Ins_p.G264fs	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	264	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTGTGGCTGCCCCTCCCGC	0.624													18	46	---	---	---	---					
GPRIN3	285513	broad.mit.edu	37	4	90170269	90170270	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:90170269_90170270insCTG	ENST00000333209.3	-	2	1510_1511	c.992_993insCAG	c.(991-993)atc>aCAGtc	p.331_331I>TV		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	331								p.R331S(1)|p.R331T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGAGACGGATCTGCTCTCGAC	0.545													12	68	---	---	---	---					
ADH1B	125	broad.mit.edu	37	4	100237412	100237413	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:100237412_100237413delCT	ENST00000305046.8	-	4	373_374	c.306_307delAG	c.(304-309)agttfs	p.RV102fs	ADH1B_ENST00000394887.3_Frame_Shift_Del_p.RV62fs			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	102					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTTTACAAACTCTGCATTTTC	0.386													11	57	---	---	---	---					
HIST1H1B	3009	broad.mit.edu	37	6	27835120	27835130	+	Frame_Shift_Del	DEL	GCCAAAGAAAG	GCCAAAGAAAG	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:27835120_27835130delGCCAAAGAAAG	ENST00000331442.3	-	1	229_239	c.178_188delCTTTCTTTGGC	c.(178-189)afs	p.LSLA60fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	60	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTAAGGGCTGCCAAAGAAAGGCCATTGCGC	0.611													9	146	---	---	---	---					
CDC40	51362	broad.mit.edu	37	6	110501792	110501793	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:110501792_110501793delTC	ENST00000368932.1	+	2	246_247	c.145_146delTC	c.(145-147)tfs	p.S49fs	CDC40_ENST00000368930.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000368933.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000307731.1_Frame_Shift_Del_p.S49fs			O60508	PRP17_HUMAN	cell division cycle 40	49					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATCAAAGCCGTCTCTAGCAGTG	0.554													8	41	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		ctgtggctccggctgtggaggctgtgggg	0.713													21	22	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450663	23450666	+	Frame_Shift_Del	DEL	GGCG	GGCG	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:23450663_23450666delGGCG	ENST00000262713.2	-	1	1185_1188	c.810_813delCGCC	c.(808-813)tgfs	p.CA270fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.CA270fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	270	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GGGCGCCCACGGCGCAGTCCCCGT	0.721													8	2	---	---	---	---					
SAV1	60485	broad.mit.edu	37	14	51132173	51132173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:51132173delT	ENST00000324679.4	-	2	622	c.259delA	c.(259-261)gafs	p.R88fs		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	88					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTTTCTCTTCTCATTATTTCA	0.393													11	18	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39329085	39329086	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:39329085_39329086insA	ENST00000221419.5	-	10	1874_1875	c.1508_1509insT	c.(1507-1509)ccafs	p.P503fs	AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.H120fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P370fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	503					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGAAGAAGTGCAGCACGTTGCT	0.599													8	27	---	---	---	---					
