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
IQGAP1	8826	broad.mit.edu	37	15	91030268	91030268	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:91030268C>T	ENST00000268182.5	+	32	4231	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	IQGAP1_ENST00000560738.1_Silent_p.F797F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1369	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAACAAGTTCGACGTGCCTG	0.443000													15	76					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	86					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45728404	45728404	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:45728404C>T	ENST00000216214.3	+	7	1584	c.750C>T	c.(748-750)tcC>tcT	p.S250S	FAM118A_ENST00000441876.2_Silent_p.S250S|FAM118A_ENST00000405548.3_Silent_p.S68S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	250						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTCTTTACTCCGTGCCGAATA	0.478000													26	121					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973192	46973192	+	Silent	SNP	C	C	T	rs149866283	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46973192C>T	ENST00000313683.10	-	2	1406	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	367										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCCAAGCTCACCTTCTTCT	0.562000													33	195					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64017452	64017452	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:64017452G>A	ENST00000371088.4	+	8	1249	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	335							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGGAAAATGAGAGTCAAGC	0.308000													5	32					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24683559	24683559	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:24683559G>C	ENST00000288087.7	-	5	471	c.360C>G	c.(358-360)ttC>ttG	p.F120L	MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1									p.F120L(1)		breast(2)|large_intestine(2)|lung(3)	7						CATCATCAAAGAAGATCATCT	0.478000													10	107					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598850	153598850	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:153598850G>A	ENST00000368699.1	-	4	602	c.99C>T	c.(97-99)ctC>ctT	p.L33L	S100A13_ENST00000440685.2_Silent_p.L33L|S100A13_ENST00000392623.1_Silent_p.L33L|S100A13_ENST00000392622.1_Silent_p.L33L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.L33L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	33	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CGTTGACGCTGAGGCTATCCT	0.522000													33	184					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534236	88534236	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88534236G>A	ENST00000399271.1	+	4	1018	c.898G>A	c.(898-900)Gat>Aat	p.D300N	DSPP_ENST00000282478.7_Missense_Mutation_p.D300N|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	300					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCAAAATTCAGATAGTAAAGA	0.433000													7	46					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44107241	44107241	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:44107241C>T	ENST00000267812.3	-	3	563	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	111						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCTACCACTTCAGGTTCCACT	0.423000													20	99					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114177678	114177678	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:114177678C>T	ENST00000393081.1	+	14	1600	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ACSL5_ENST00000354273.4_Silent_p.F431F|ACSL5_ENST00000354655.4_Silent_p.F431F|ACSL5_ENST00000356116.1_Silent_p.F487F|ACSL5_ENST00000433418.1_Silent_p.F431F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.F213F	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	431					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGACATTCTTCCGGGCAGCAA	0.453000													9	63					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30110249	30110249	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:30110249G>A	ENST00000380752.5	-	3	463	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	26					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGACAGCCGCGTCTCCTCCCG	0.607000													7	54					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10059238	10059238	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10059238G>C	ENST00000263663.5	+	13	1528	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T	TAF1B_ENST00000396242.3_Missense_Mutation_p.R192T	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	447					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAAAAAAAGAGGTAAGTCA	0.338000													6	46					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82900848	82900848	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:82900848T>A	ENST00000306270.7	-	25	4066	c.3517A>T	c.(3517-3519)Aat>Tat	p.N1173Y	IBTK_ENST00000503631.1_Missense_Mutation_p.N972Y|IBTK_ENST00000510291.1_Missense_Mutation_p.N1158Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1173					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCATGCTATTCATTCCTGAA	0.328000													4	27					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003681	119003681	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:119003681C>T	ENST00000350777.2	+	8	1046	c.983C>T	c.(982-984)tCt>tTt	p.S328F	HINFP_ENST00000527410.1_Missense_Mutation_p.S328F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	328					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCTCTGCTCTATCAAGTCC	0.532000													31	108					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943740	121943740	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:121943740C>T	ENST00000442488.2	-	1	819	c.752G>A	c.(751-753)gGc>gAc	p.G251D	FEZF1_ENST00000427185.2_Missense_Mutation_p.G201D|FEZF1_ENST00000331178.4_Missense_Mutation_p.G251D|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	251					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATTAGGAGAGCCTCGGCTGAA	0.493000													11	100					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	182992966	182992966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:182992966G>T	ENST00000258341.4	+	1	372	c.115G>T	c.(115-117)Gag>Tag	p.E39*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	39					axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCATGGACGAGTGCACGGA	0.766000													6	17					1.12685e-05	1.2197e-05	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101100668	101100668	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:101100668C>G	ENST00000369162.2	-	18	3265	c.2921G>C	c.(2920-2922)gGa>gCa	p.G974A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAAAATATCCAGTTCGCTC	0.358000													10	50					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146563519	146563519	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:146563519G>T	ENST00000281317.5	+	3	1654	c.444G>T	c.(442-444)ttG>ttT	p.L148F	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	148						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAGGATTGTCTGGGCCCC	0.378000													15	84					0.0242445	0.0244988	1	1	0
PCDHB15	56121	broad.mit.edu	37	5	140626943	140626943	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140626943C>T	ENST00000231173.3	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		599	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.726000													6	85					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587704	36587704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:36587704G>T	ENST00000273183.3	+	11	1432	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	STAC_ENST00000457375.2_Nonsense_Mutation_p.E317*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	378					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTGAAGAAGAACAAGATGG	0.428000													16	79					1.45105e-14	1.68415e-14	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193185105	193185105	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:193185105C>A	ENST00000342695.4	-	10	1436	c.1114_splice	c.e10+1	p.G372_splice	ATP13A4_ENST00000295548.3_Splice_Site_p.G372_splice|ATP13A4_ENST00000392443.3_Splice_Site_p.G372_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	372					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGATGCTAACCAGTCTGCAGT	0.443000													6	49					0.00116845	0.00119745	1	1	0
EEF2	1938	broad.mit.edu	37	19	3983263	3983263	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983263G>A	ENST00000309311.6	-	3	333	c.245C>T	c.(244-246)tCg>tTg	p.S82L	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	82						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATTCTCCGAGAGCTCGTA	0.587000													4	18					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43195057	43195057	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:43195057C>T	ENST00000263245.5	-	15	1740	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	ARFGAP3_ENST00000429508.2_Silent_p.V435V|ARFGAP3_ENST00000437119.2_Silent_p.V463V	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	507					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GAATTGAAGTCACGACTCCAT	0.527000													32	199					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816601	29816601	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:29816601C>G	ENST00000561482.1	+	14	2401	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	KIF22_ENST00000569382.2_Silent_p.L602L|KIF22_ENST00000160827.4_Silent_p.L656L|KIF22_ENST00000400751.5_Silent_p.L588L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	656					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCTGGGTCTCGCCGCCGGCC	0.607000													33	191					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			7	46					5.18039e-06	5.64956e-06	1	1	0
SMC2	10592	broad.mit.edu	37	9	106864294	106864294	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:106864294G>T	ENST00000286398.7	+	8	978	c.690G>T	c.(688-690)ttG>ttT	p.L230F	SMC2_ENST00000374793.3_Missense_Mutation_p.L230F|SMC2_ENST00000374787.3_Missense_Mutation_p.L230F|SMC2_ENST00000303219.8_Missense_Mutation_p.L230F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	230					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAACATTTGAGTCGTTTAT	0.313000													10	73					3.86212e-05	4.08847e-05	1	1	0
RPA1	6117	broad.mit.edu	37	17	1782580	1782580	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:1782580G>A	ENST00000254719.5	+	10	941	c.831G>A	c.(829-831)gaG>gaA	p.E277E	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	277					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATGACTACGAGATGACCTTCA	0.468000								Nucleotide excision repair (NER)					7	64					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27185171	27185171	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:27185171C>G	ENST00000335625.5	+	9	1712	c.824C>G	c.(823-825)tCa>tGa	p.S275*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.S275*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.S275*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	275					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTGATCTTATCACAGGTGTCC	0.502000													8	26					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844948	248844948	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248844948A>G	ENST00000342623.3	-	1	681	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACCGTTGAGAAGATTTGGAAA	0.478000													9	85					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712233	10712233	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10712233C>T	ENST00000345985.3	-	20	1991	c.1881G>A	c.(1879-1881)ctG>ctA	p.L627L	NOL10_ENST00000381685.5_Silent_p.L677L|NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478000													24	152					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166852540	166852540	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:166852540G>C	ENST00000423058.2	-	24	4581	c.4564C>G	c.(4564-4566)Cct>Gct	p.P1522A	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1494A|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1511A|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1522A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1522						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGAGGTATAGGCTTTTGCGGT	0.333000													7	58					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992872	19992872	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:19992872G>T	ENST00000289753.1	+	1	1093	c.626G>T	c.(625-627)tGc>tTc	p.C209F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	209					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTCACCTACTGCAGGATCCTG	0.667000													9	55					9.70103e-10	1.08247e-09	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262646	39262646	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39262646C>T	ENST00000280481.7	+	1	1381	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	389					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGGATCTGCGGCTCCTGAA	0.552000													12	71					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302416	15302416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:15302416G>T	ENST00000263388.2	-	6	930	c.855C>A	c.(853-855)tgC>tgA	p.C285*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	285	EGF-like 7.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATTGTGGCAGGCGTTGG	0.607000													3	31					0.004672	0.00475425	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80816547	80816547	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:80816547A>G	ENST00000466387.1	+	19	2850	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N743S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N388S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.N709S|AC008067.2_ENST00000595478.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	709					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACAGCGGCAATGATATCATT	0.478000													12	75					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191666	50191666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:50191666C>A	ENST00000216267.8	-	5	2371	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	BRD1_ENST00000542442.1_Nonsense_Mutation_p.E317*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000342989.5_Nonsense_Mutation_p.E224*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.E629*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	629	Bromo.				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)		TCAAAATCCTCCTCAAACTCA	0.453000													16	81					6.31663e-08	7.02117e-08	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105799374	105799374	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105799374G>C	ENST00000353479.5	-	42	3103	c.2813C>G	c.(2812-2814)tCa>tGa	p.S938*	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	938	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTGAGGTTGAGAAACCTGG	0.592000													17	50					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637000													7	47					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836400	74836400	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:74836400G>A	ENST00000346246.5	+	2	354	c.123G>A	c.(121-123)ttG>ttA	p.L41L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	41	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCAGTTCTTGTATGCCCAAA	0.577000													10	36					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269118	34269118	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:34269118G>A	ENST00000346562.2	+	11	1583	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	NPAS3_ENST00000356141.4_Silent_p.S535S|NPAS3_ENST00000551492.1_Silent_p.S540S|NPAS3_ENST00000357798.5_Silent_p.S522S|NPAS3_ENST00000548645.1_Silent_p.S505S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCGAGCACTCGGACTTTGAGA	0.642000													9	34					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	51					0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121819	41121819	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:41121819A>G	ENST00000373127.4	-	2	101	c.53T>C	c.(52-54)aTa>aCa	p.I18T	TREML1_ENST00000426005.2_Missense_Mutation_p.I18T|TREML1_ENST00000437044.2_Intron	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	18	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTGCCAACTATGCCCTGACC	0.582000													7	50					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648868	34648868	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:34648868C>T	ENST00000537011.1	+	8	3041	c.2659C>T	c.(2659-2661)Cca>Tca	p.P887S	NUTM1_ENST00000438749.3_Missense_Mutation_p.P877S|NUTM1_ENST00000333756.4_Missense_Mutation_p.P859S					NUT midline carcinoma, family member 1																		AGAAACCCTTCCACCCACATG	0.532000													7	50					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12779245	12779245	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12779245C>T	ENST00000314124.7	-	8	789	c.433G>A	c.(433-435)Gag>Aag	p.E145K	TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_Missense_Mutation_p.E115K|TMEM40_ENST00000435575.1_Missense_Mutation_p.E69K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E145K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E161K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	145						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGAGAGGCCTCCACTTCTCCT	0.413000													5	68					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597547	136597547	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136597547C>T	ENST00000531224.1	-	5	1368	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	BCLAF1_ENST00000353331.4_Silent_p.E370E|BCLAF1_ENST00000527759.1_Silent_p.E370E|BCLAF1_ENST00000527536.1_Silent_p.E372E|BCLAF1_ENST00000392348.2_Silent_p.E370E|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATTCTCCCTCTGCCCTCC	0.433000													29	419					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636594	42636594	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:42636594G>A	ENST00000315323.3	+	1	1670	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	513					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TACACGCCGCGCATGTCGCCC	0.627000													3	34					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3819189	3819189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:3819189C>A	ENST00000262367.5	-	15	3855	c.3046G>T	c.(3046-3048)Gag>Tag	p.E1016*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E978*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1016					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACCTGGGCTCCCCTTTGGAT	0.592000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	70					1.56452e-12	1.78011e-12	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	51					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347156	95347156	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:95347156C>T	ENST00000371483.4	+	4	980	c.924C>T	c.(922-924)ttC>ttT	p.F308F	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F292F	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		TCCAGAACTTCAAGCAAGACC	0.522000													38	191					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520131	83520131	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:83520131C>T	ENST00000566620.1	+	7	1121	c.831C>T	c.(829-831)acC>acT	p.T277T	CDH13_ENST00000268613.10_Silent_p.T324T|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.T238T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	277	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCCAGCCACCGATAATGCCC	0.517000													10	60					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059116	12059116	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:12059116G>A	ENST00000482090.1	+	3	641	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZNF700_ENST00000254321.5_Missense_Mutation_p.E93K|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAGTCAATGAAATTAAAGA	0.358000													19	128					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694951	219694951	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:219694951G>C	ENST00000439262.2	-	4	403	c.308C>G	c.(307-309)tCc>tGc	p.S103C	PRKAG3_ENST00000529249.1_Missense_Mutation_p.S128C|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S128C	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	128					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTGTGCTGGAGCCTGCAGC	0.632000													3	19					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568024	159568024	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:159568024C>A	ENST00000307765.5	+	16	1678	c.1427C>A	c.(1426-1428)gCg>gAg	p.A476E	RXFP1_ENST00000470033.1_Missense_Mutation_p.A443E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A428E|RXFP1_ENST00000448688.2_Missense_Mutation_p.A371E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A395E	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	476						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A476V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATAAGCATGCGCAGCTGTGG	0.418000													12	93					4.36969e-10	4.89473e-10	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	58					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480095	52480095	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:52480095C>A	ENST00000219746.9	-	5	1001	c.717G>T	c.(715-717)aaG>aaT	p.K239N	TOX3_ENST00000407228.3_Missense_Mutation_p.K234N	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	239					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTTGGGCTTCTTGCCAGAGT	0.453000													6	47					3.59834e-05	3.82323e-05	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58298781	58298781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:58298781C>T	ENST00000377918.3	+	4	2859	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	945					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATGAATGCCGAGTGCTTGG	0.423000													11	45					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941702	22941702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941702C>A	ENST00000397104.3	-	5	735	c.736G>T	c.(736-738)Gga>Tga	p.G246*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.G337*					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)				GGTTTCTTTCCAGTATGAATT	0.373000													4	54					1.23904e-05	1.33116e-05	1	1	0
NKRF	55922	broad.mit.edu	37	X	118724262	118724262	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:118724262A>C	ENST00000371527.1	-	2	1778	c.1126T>G	c.(1126-1128)Tgg>Ggg	p.W376G	NKRF_ENST00000542113.1_Missense_Mutation_p.W391G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.W376G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	376					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CGACAACGCCATGTGCGATTT	0.383000													27	63					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543998	10543998	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:10543998C>T	ENST00000583535.1	-	20	2258	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R724Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	724	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						attcagcactcggtatctgca	0.458000													11	47					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100204123	100204123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:100204123C>A	ENST00000223061.5	+	6	1090	c.810C>A	c.(808-810)taC>taA	p.Y270*		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	270	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCCTCCTACAAGACCCTGC	0.622000													7	50					0.0293803	0.0295851	1	1	0
PAFAH2	5051	broad.mit.edu	37	1	26303187	26303187	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:26303187C>T	ENST00000374282.3	-	8	923	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PAFAH2_ENST00000374284.1_Silent_p.K248K	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	248					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGGGTCTCCTTGGCCAAAG	0.448000													9	35					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17537815	17537815	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:17537815G>A	ENST00000005226.7	-	15	1232	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATTTGCCATCGTAACGATAAA	0.488000													4	15					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056494	53056494	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:53056494G>C	ENST00000359798.4	+	5	505	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATTGAGAAAGAAATTCATAA	0.398000													33	220					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623782	100623782	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:100623782C>T	ENST00000317233.4	-	5	550	c.315G>A	c.(313-315)gtG>gtA	p.V105V	AFF3_ENST00000409236.1_Silent_p.V105V|AFF3_ENST00000356421.2_Silent_p.V130V|AFF3_ENST00000409579.1_Silent_p.V130V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	105					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGATCTTGTTCACAGGAGTCT	0.458000													8	68					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116565100	116565100	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:116565100A>T	ENST00000319550.4	+	12	1363	c.1281A>T	c.(1279-1281)agA>agT	p.R427S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	427							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATTTACAAGATTCTCTTCAA	0.348000													7	43					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308245	140308245	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140308245A>T	ENST00000253807.2	+	1	1768	c.1768A>T	c.(1768-1770)Agt>Tgt	p.S590C	PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S590C|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCTGACAGTGGTTCTAA	0.517000													13	101					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19811639	19811639	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19811639C>G	ENST00000311322.8	+	5	1020	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	184			P -> R (in LPL deficiency; Nijmegen; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGGCCTCGATCCAGCTGGACC	0.458000													10	72					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	41					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271983	1271983	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1271983G>A	ENST00000444172.2	+	5	410	c.276G>A	c.(274-276)cgG>cgA	p.R92R	CIRBP_ENST00000591935.1_Silent_p.R145R|CIRBP_ENST00000588090.1_Silent_p.R145R|CIRBP_ENST00000586773.1_Silent_p.R145R|CIRBP_ENST00000413636.2_Silent_p.R111R|CIRBP_ENST00000586472.1_Silent_p.R145R|CIRBP_ENST00000587896.1_Silent_p.R145R|CIRBP_ENST00000320936.5_Silent_p.R145R|CIRBP_ENST00000585630.1_Silent_p.R145R|CIRBP_ENST00000587323.1_Silent_p.R145R|CIRBP_ENST00000589660.1_Silent_p.R145R|CIRBP_ENST00000589686.1_Silent_p.R145R|CIRBP_ENST00000589710.1_Silent_p.R145R|CIRBP_ENST00000588230.1_Silent_p.R145R|CIRBP_ENST00000588030.1_Silent_p.R145R|CIRBP_ENST00000589235.1_Silent_p.R145R			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	145	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCAGCCGGAGTCAGAGTG	0.602000													17	72					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35738153	35738153	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738153G>A	ENST00000378088.1	-	1	479	c.97C>T	c.(97-99)Cca>Tca	p.P33S	GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	255					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCGGCCTGGAGTCGAGGAA	0.532000													7	34					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3983151	3983151	+	Silent	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983151G>C	ENST00000309311.6	-	3	445	c.357C>G	c.(355-357)ctC>ctG	p.L119L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	119						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGACTCGGAGGGCAGCAG	0.617000													7	57					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120347948	120347948	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:120347948G>A	ENST00000397843.2	+	35	3552	c.3386G>A	c.(3385-3387)cGg>cAg	p.R1129Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1026Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1110Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1129	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTAATCTGTCGGATGGCTGCA	0.388000			T	MLL	AML								5	45					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709227	176709227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:176709227G>A	ENST00000367662.3	+	14	5210	c.4046G>A	c.(4045-4047)cGg>cAg	p.R1349Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1349P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCATCCCCACGGGTCGGCATC	0.522000													12	99					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71740879	71740879	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:71740879G>A	ENST00000258104.3	+	6	768	c.491G>A	c.(490-492)gGa>gAa	p.G164E	DYSF_ENST00000409762.1_Missense_Mutation_p.G195E|DYSF_ENST00000409651.1_Missense_Mutation_p.G196E|DYSF_ENST00000409366.1_Missense_Mutation_p.G165E|DYSF_ENST00000394120.2_Missense_Mutation_p.G165E|DYSF_ENST00000413539.2_Missense_Mutation_p.G195E|DYSF_ENST00000410020.3_Missense_Mutation_p.G196E|DYSF_ENST00000410041.1_Missense_Mutation_p.G196E|DYSF_ENST00000409582.3_Missense_Mutation_p.G195E|DYSF_ENST00000409744.1_Missense_Mutation_p.G165E|DYSF_ENST00000429174.2_Missense_Mutation_p.G164E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	164						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGACCAGGGACTCACTGGA	0.642000													4	34					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105133311	105133311	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105133311C>T	ENST00000369839.3	+	2	779	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TAF5_ENST00000351396.4_Silent_p.V252V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	252					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGGAGCTAGTCTACAATCAAC	0.393000													7	51					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202151270C>T	ENST00000358485.4	+	9	1766	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373000										HNSCC(4;0.00038)			11	62					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129183550	129183550	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:129183550C>T	ENST00000296266.3	+	8	834	c.642C>T	c.(640-642)ggC>ggT	p.G214G	IFT122_ENST00000507564.1_Silent_p.G214G|IFT122_ENST00000504021.1_Silent_p.G116G|IFT122_ENST00000440957.2_Silent_p.G13G|IFT122_ENST00000431818.2_Silent_p.G13G|IFT122_ENST00000349441.2_Silent_p.G111G|IFT122_ENST00000347300.2_Silent_p.G163G|IFT122_ENST00000348417.2_Silent_p.G163G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	163					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAAAAATGGCGAGGAGAAAG	0.507000													31	117					0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44950696	44950696	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:44950696C>G	ENST00000340160.3	+	9	953	c.714C>G	c.(712-714)atC>atG	p.I238M	TSPAN18_ENST00000520358.2_Missense_Mutation_p.I238M	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	238						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCGCCATGATCTTTGCCATGT	0.592000													20	90					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87502921	87502921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:87502921C>T	ENST00000296595.6	-	6	647	c.523G>A	c.(523-525)Gga>Aga	p.G175R	TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.G48R|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.G175R|TMEM161B_ENST00000512429.1_Missense_Mutation_p.G164R	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	175						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAAAAAAATCCAAAGGTGACA	0.318000													7	51					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075902	67075902	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:67075902C>A	ENST00000308127.4	+	10	1212	c.1034C>A	c.(1033-1035)gCa>gAa	p.A345E	SSH3_ENST00000376757.5_Missense_Mutation_p.A345E|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	345	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAACGCAGCAAACCTGGAG	0.647000													10	16					2.17888e-05	2.33221e-05	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74531626	74531626	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:74531626G>A	ENST00000394019.2	-	7	658	c.261C>T	c.(259-261)atC>atT	p.I87I	SLC4A5_ENST00000423644.1_Silent_p.I87I|SLC4A5_ENST00000377632.1_Silent_p.I87I|SLC4A5_ENST00000377634.4_Silent_p.I87I|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000357822.5_Silent_p.I87I|SLC4A5_ENST00000346834.4_Silent_p.I87I|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	87						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGTCCTGCTGATAAGATCCA	0.597000													18	97					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446619	10446619	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:10446619G>C	ENST00000326756.3	-	3	1772	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTGCACACTAGAATTTGGCAT	0.328000													8	74					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31121413	31121413	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:31121413C>T	ENST00000394951.1	+	6	1014	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	BCKDK_ENST00000287507.3_Missense_Mutation_p.R131C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R131C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R131C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	131					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						GCTATATATCCGTGCCTTCCA	0.587000													16	73					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219519	134219519	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:134219519G>A	ENST00000305233.5	+	2	1574	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	505	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTTGGTGGCCGGCGCGTGTTC	0.597000													12	98					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5112513	5112513	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5112513G>A	ENST00000315997.5	-	2	472	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	C16orf89_ENST00000422873.1_Missense_Mutation_p.R129C|C16orf89_ENST00000474471.3_Missense_Mutation_p.R91C|C16orf89_ENST00000350219.4_Missense_Mutation_p.R129C|C16orf89_ENST00000472572.3_Missense_Mutation_p.R91C|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ATCCCCACGCGCAGGCTCAGC	0.567000													12	66					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152583231	152583231	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:152583231T>C	ENST00000367255.5	-	101	19509	c.18908A>G	c.(18907-18909)cAt>cGt	p.H6303R	SYNE1_ENST00000341594.5_Missense_Mutation_p.H5915R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000356820.4_Missense_Mutation_p.H827R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H6303R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATTCTTGATGTAGGCTTTC	0.373000										HNSCC(10;0.0054)			7	48					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35738164	35738164	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738164G>A	ENST00000378088.1	-	1	468	c.86C>T	c.(85-87)tCt>tTt	p.S29F	GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	0					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCGAGGAAGAGAAAAATAA	0.527000													9	46					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168546	49168546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49168546C>T	ENST00000418109.1	-	8	916	c.752G>A	c.(751-753)cGt>cAt	p.R251H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R251H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	251	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTGTGTAGACGAGTCAGGTT	0.582000													11	56					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1742748	1742748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:1742748G>A	ENST00000380815.4	-	8	1113	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	GMDS_ENST00000530927.1_Missense_Mutation_p.R252W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	282					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACAAATTCCCGGACACTATGG	0.453000													15	69					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101981	119101981	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:119101981C>T	ENST00000264245.4	+	6	1122	c.590C>T	c.(589-591)gCa>gTa	p.A197V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	197	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTCCTTGCAGTCCGGGTC	0.453000													24	110					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133055617	133055617	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:133055617A>T	ENST00000417437.2	-	1	214	c.215T>A	c.(214-216)gTa>gAa	p.V72E	VNN3_ENST00000427187.2_Splice_Site|VNN3_ENST00000425515.2_Splice_Site|VNN3_ENST00000392393.3_Splice_Site|VNN3_ENST00000367927.5_Splice_Site|VNN3_ENST00000423615.2_Splice_Site|VNN3_ENST00000275223.3_Splice_Site|VNN3_ENST00000519686.2_Splice_Site|VNN3_ENST00000509351.1_Splice_Site|VNN3_ENST00000450865.2_Splice_Site|VNN3_ENST00000414302.2_Splice_Site|VNN3_ENST00000392394.2_Splice_Site|VNN3_ENST00000207771.3_Splice_Site					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAGGGTAATACCTGCTTCGC	0.403000													4	60					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703855	66703855	+	Missense_Mutation	SNP	G	G	A	rs144350290		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:66703855G>A	ENST00000247815.4	+	4	1206	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	383					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTCGATGTCGAAAAGGTGCT	0.418000													24	216					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294685	62294685	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:62294685C>G	ENST00000378024.4	-	5	7478	c.7204G>C	c.(7204-7206)Gga>Cga	p.G2402R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2402					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACCTCTCCTTTTGCCTTG	0.483000													22	101					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53609533	53609533	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53609533G>A	ENST00000425354.2	-	4	717	c.230C>T	c.(229-231)tCg>tTg	p.S77L	RARG_ENST00000394426.1_Missense_Mutation_p.S77L|RARG_ENST00000338561.5_Missense_Mutation_p.S66L|RARG_ENST00000327550.3_Missense_Mutation_p.S5L|RARG_ENST00000543726.1_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	77	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCGAGGGCGAGCTGGGCAC	0.617000													8	75					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807459	3807459	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:3807459C>T	ENST00000361605.3	-	3	390	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	98										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACTGCCTTCAGCAAACTCA	0.522000													13	62					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261911	23261911	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:23261911G>C	ENST00000450802.3	+	12	1121	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D																								GACAAGAAGAGAGGATTCGGG	0.567000													8	58					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27744792	27744792	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27744792G>T	ENST00000430629.2	-	4	612	c.397C>A	c.(397-399)Ctc>Atc	p.L133I	WASF2_ENST00000536657.1_Missense_Mutation_p.L133I	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	133					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGATTGTTGAGAGGGGGAGGA	0.423000													11	63					0.0692343	0.0694747	1	1	0
TOMM20	9804	broad.mit.edu	37	1	235292010	235292010	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:235292010G>A	ENST00000366607.4	-	1	241	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	7					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CGGCGGCGATGGCGCTGTTCC	0.612000													21	111					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206093	13206093	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:13206093G>A	ENST00000379350.1	+	7	840	c.711G>A	c.(709-711)tcG>tcA	p.S237S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Silent_p.S92S|PHACTR1_ENST00000332995.7_Silent_p.S237S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGAAACTGTCGCCTCCGCTAC	0.572000													11	72					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090793	184090793	+	Silent	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:184090793G>C	ENST00000204615.7	-	6	784	c.570C>G	c.(568-570)ctC>ctG	p.L190L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Silent_p.L186L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	190					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTTCAGTGTGAGGACTAGAG	0.577000													32	67					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281428	130281428	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:130281428C>T	ENST00000257359.6	-	6	2340	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	545	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAACTGTACTCCTCCTCCACA	0.587000													9	59					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102490547	102490547	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:102490547G>C	ENST00000321521.9	+	13	1876	c.1303G>C	c.(1303-1305)Gat>Cat	p.D435H	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.D435H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D435H			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	435					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAAGTGCTAGATATTGCACG	0.279000													8	55					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855643	23855643	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:23855643G>A	ENST00000405093.3	-	33	4910	c.4840C>T	c.(4840-4842)Ctg>Ttg	p.L1614L	MYH6_ENST00000356287.3_Silent_p.L1614L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1614					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCACCCTCAGGACCTCGTTG	0.602000													25	140					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513163	75513163	+	Silent	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:75513163G>C	ENST00000332272.4	-	3	743	c.564C>G	c.(562-564)ctC>ctG	p.L188L	CHST6_ENST00000390664.2_Silent_p.L188L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	188					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGGGTCGCTGAGCAGCGGGT	0.692000													11	61					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260196	44260196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:44260196C>T	ENST00000315087.7	-	7	1600	c.940G>A	c.(940-942)Gag>Aag	p.E314K	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E350K|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E283K	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	314					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCACCTCCTCACAGAGCTCC	0.627000													15	96					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:47426671G>A	ENST00000426342.1	-	9	1847	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	MDGA2_ENST00000439988.2_Silent_p.Y596Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000399232.2_Silent_p.Y665Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443000													14	56					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629142	32629142	+	Missense_Mutation	SNP	G	G	A	rs9273626		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:32629142G>A	ENST00000399084.1	-	5	932	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R252C			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	252			H -> R (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36; dbSNP:rs1140342).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCTTTGACGGATGATAAGG	0.557000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				4	39					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12198897	12198897	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12198897G>T	ENST00000287814.4	-	2	735	c.225C>A	c.(223-225)atC>atA	p.I75I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	75	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TTATCTGTTTGATTTCATACC	0.512000													3	38					2.56e-06	2.82382e-06	1	1	0
PTPN12	5782	broad.mit.edu	37	7	77256106	77256106	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:77256106C>G	ENST00000248594.6	+	13	1382	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	PTPN12_ENST00000435495.2_Silent_p.P240P|PTPN12_ENST00000415482.2_Silent_p.P251P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	370	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCTTCTCCCCCTTCAGCTT	0.458000													8	52					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884218	38884218	+	Missense_Mutation	SNP	G	G	A	rs144190333	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:38884218G>A	ENST00000339659.3	+	11	3119	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	DYRK1A_ENST00000398960.2_Missense_Mutation_p.R559H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398956.2_Silent_p.A517A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	559					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTCAGGTGCGTCAGCAATTT	0.413000													10	46					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848393	122848393	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:122848393G>A	ENST00000343035.2	-	3	714	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	222										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)		GCTCCCCCTCGTCTCCAATGT	0.731000													8	56					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132222148	132222148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:132222148C>T	ENST00000260818.6	+	41	5055	c.4807C>T	c.(4807-4809)Cca>Tca	p.P1603S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1603							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCAGAAAATCCAACCATAAG	0.473000													4	78					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107415954	107415954	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:107415954G>C	ENST00000008527.5	-	2	1042	c.175C>G	c.(175-177)Ctt>Gtt	p.L59V		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	59	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGATCCTCAAGACACTGAAGC	0.313000													18	102					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399178	109399178	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:109399178C>T	ENST00000283195.6	+	28	9355	c.9229C>T	c.(9229-9231)Cta>Tta	p.L3077L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3077	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGGTGAACCTCTAGGGCGGAT	0.423000													28	180					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230795361	230795361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:230795361C>G	ENST00000534989.1	+	2	382	c.47C>G	c.(46-48)tCa>tGa	p.S16*	COG2_ENST00000535166.1_5'UTR|COG2_ENST00000366668.3_Nonsense_Mutation_p.S75*|COG2_ENST00000366669.4_Nonsense_Mutation_p.S75*|COG2_ENST00000494371.1_3'UTR			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	75					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAATCTTTCAACAAACTTG	0.353000													12	52					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545887	234545887	+	Missense_Mutation	SNP	C	C	T	rs149598882	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:234545887C>T	ENST00000344644.5	+	1	788	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T240M|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACCCCTGTCACGGCATATGAT	0.433000													123	312					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113562942	113562942	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:113562942C>T	ENST00000297405.5	-	27	4766	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1508	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAAATCCGTGTCAAAC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	55					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113213614	113213614	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:113213614C>T	ENST00000401783.2	-	23	4192	c.3856G>A	c.(3856-3858)Gat>Aat	p.D1286N	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1286N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1263N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1286	EGF-like 3; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCACACCATCAACACAGATT	0.393000													4	49					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88588999	88588999	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:88588999G>T	ENST00000266712.6	+	14	2538	c.2318G>T	c.(2317-2319)gGa>gTa	p.G773V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	774						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGTGCAAGGAAAACACAAT	0.318000													13	52					5.50884e-06	5.98516e-06	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35900587	35900587	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:35900587C>G	ENST00000325722.3	-	21	3292	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457Q	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1020						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCCCTTCTCTCGGTCTGGC	0.572000													14	61					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697199	17697199	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:17697199C>T	ENST00000353383.1	+	3	1406	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	RAI1_ENST00000261641.6_Missense_Mutation_p.H313Y	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	313	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAAGTATCAGCACTACGGGCA	0.637000													26	106					0	0	1	0	0
THAP2	83591	broad.mit.edu	37	12	72068160	72068160	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:72068160T>G	ENST00000308086.2	+	2	1750	c.249T>G	c.(247-249)tgT>tgG	p.C83W	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.C59W	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	83						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTGATTTTTGTACCCATATAA	0.333000													12	63					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746110	111746110	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:111746110G>T	ENST00000261726.6	+	13	1285	c.1131G>T	c.(1129-1131)ctG>ctT	p.L377L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCATGAAGCTGGCCTCCAGCA	0.652000													31	107					2.47316e-13	2.83628e-13	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	105					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19277993	19277993	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19277993C>T	ENST00000454498.2	-	7	2003	c.990G>A	c.(988-990)ctG>ctA	p.L330L	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.L330L|CSGALNACT1_ENST00000544602.1_Silent_p.L330L|CSGALNACT1_ENST00000522854.1_Silent_p.L330L|CSGALNACT1_ENST00000311540.4_Silent_p.L330L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	330					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ATTCTCCATTCAGCTGGATGA	0.483000													28	144					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941701	22941701	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941701C>A	ENST00000397104.3	-	5	736	c.737G>T	c.(736-738)gGa>gTa	p.G246V	ZNF99_ENST00000596209.1_Missense_Mutation_p.G337V					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)				GGGTTTCTTTCCAGTATGAAT	0.373000													4	52					1.23904e-05	1.33116e-05	1	1	0
POLR2J4	84820	broad.mit.edu	37	7	44005513	44005513	+	RNA	SNP	G	G	A	rs2595699	by1000genomes	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:44005513G>A	ENST00000427076.1	-	0	1379					NR_003655.2																						GCCGGAACCAGCCCTCCTCCT	0.637000													4	37					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805656	102805656	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:102805656C>G	ENST00000264257.2	+	3	305	c.179C>G	c.(178-180)tCt>tGt	p.S60C	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S60C|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	60	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TATAAAAATTCTAGCAAAATC	0.413000													9	54					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458000													6	41					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	12					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516850	195516850	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:195516850G>C	ENST00000463781.3	-	2	2060	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	MUC4_ENST00000475231.1_Missense_Mutation_p.S534C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	539					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGACCTTAGAGGGGACCCT	0.542000													38	107					0	0	1	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764735	54764735	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:54764735G>A	ENST00000546970.1	-	7	1039	c.750C>T	c.(748-750)gtC>gtT	p.V250V	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Silent_p.V189V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Silent_p.V169V|ZNF385A_ENST00000551109.1_Silent_p.V250V|ZNF385A_ENST00000338010.5_Silent_p.V270V|ZNF385A_ENST00000394313.2_Silent_p.V250V			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTCCGAGTTGACCTTGACAT	0.597000											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	120					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917290	7917290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:7917290C>T	ENST00000254854.4	+	12	2506	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	786	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTGATGAAGCAGTGCTGGGC	0.647000													11	63					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176317843	176317843	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176317843G>A	ENST00000292432.5	-	5	605	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	172	Glucose-binding (Potential).|Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGTCTGGTGACAAGGGAAA	0.587000													7	69					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4116726	4116726	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:4116726C>T	ENST00000404826.2	+	21	3246	c.3107C>T	c.(3106-3108)tCa>tTa	p.S1036L	SDK1_ENST00000389531.3_Missense_Mutation_p.S1036L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1036	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGGCCTCTCATCTCTCACC	0.577000													7	49					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500020	90500020	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:90500020G>A	ENST00000325643.5	+	4	684	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CACCAGGCCCGATGACCTTCT	0.622000													22	137					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422559	47422559	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:47422559A>G	ENST00000361866.3	+	33	2483	c.2369A>G	c.(2368-2370)aAg>aGg	p.K790R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	790	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TCGCTGGTCAAGGAGAACTAT	0.592000													18	76					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880888	152880888	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:152880888G>A	ENST00000323534.2	+	1	860	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	136					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGCCCTGGCTGAGGAGTGGAG	0.627000													3	28					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111839271	111839271	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:111839271C>T	ENST00000440460.2	+	3	522	c.225C>T	c.(223-225)ccC>ccT	p.P75P	DIXDC1_ENST00000531396.1_Silent_p.P75P|DIXDC1_ENST00000529225.1_Silent_p.P74P|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	75	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGCTGAGTCCCGGTAACCAAC	0.438000													11	17					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62234017	62234017	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:62234017G>C	ENST00000261517.5	-	46	5471	c.5398C>G	c.(5398-5400)Ctt>Gtt	p.L1800V	VPS13C_ENST00000249837.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1800V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1800					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGGAGGAAGAGAATAATGT	0.348000													12	64					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596767	72596767	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:72596767C>T	ENST00000264839.7	+	1	41	c.41C>T	c.(40-42)aCg>aTg	p.T14M	RIMS1_ENST00000491071.2_Missense_Mutation_p.T14M|RIMS1_ENST00000520567.1_Missense_Mutation_p.T14M|RIMS1_ENST00000518273.1_Missense_Mutation_p.T14M|RIMS1_ENST00000522291.1_Missense_Mutation_p.T14M|RIMS1_ENST00000517960.1_Missense_Mutation_p.T14M|RIMS1_ENST00000348717.5_Missense_Mutation_p.T14M|RIMS1_ENST00000521978.1_Missense_Mutation_p.T14M			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	14					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGCCCACCCACGGTGCCTCCC	0.657000													3	28					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117664	117664	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:117664G>A	ENST00000382500.2	-	1	753	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	152			I -> V (in dbSNP:rs7031810).		axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTTGTGGCGGATGCTGTTCT	0.657000													23	292					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400677	47400677	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400677T>G	ENST00000310638.4	-	6	816	c.785A>C	c.(784-786)cAc>cCc	p.H262P	CYP4A11_ENST00000371905.1_Missense_Mutation_p.H262P|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H262P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	262					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGAACCTGTGTGCTGATGGGC	0.577000													18	96					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412948	49412948	+	Silent	SNP	G	G	A	rs147354494		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49412948G>A	ENST00000418115.1	-	2	459	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RHOA_ENST00000422781.1_Silent_p.F25F|RHOA_ENST00000454011.2_Silent_p.F25F	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	25					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GGTCCTTGCTGAAGACTATGA	0.453000													11	102					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62254725	62254725	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:62254725T>C	ENST00000474889.1	+	20	3267	c.2890T>C	c.(2890-2892)Tat>Cat	p.Y964H	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y935H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	964	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGTGATCAGTATTGGCCAAC	0.358000													16	57					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924905	25924905	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:25924905G>T	ENST00000356865.6	-	21	4194	c.4083C>A	c.(4081-4083)gtC>gtA	p.V1361V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1361					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCAGGGAGCAGACCGGCTGCT	0.662000													8	95					0.000157383	0.000164796	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95310851	95310851	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:95310851G>C	ENST00000271227.6	+	9	1005	c.903G>C	c.(901-903)ttG>ttC	p.L301F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L253F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L265F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L221F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L269F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L233F|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	301						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L301F(1)|p.L253F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGCTCGTCTTGATTTTTGTTC	0.408000													13	89					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68058576	68058576	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:68058576G>C	ENST00000204961.4	+	2	1025	c.245G>C	c.(244-246)cGg>cCg	p.R82P		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	82					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACCTGGTGCGGCCTGAGCAG	0.552000													3	12					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38485030	38485030	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38485030G>C	ENST00000373014.4	+	6	603	c.542G>C	c.(541-543)gGa>gCa	p.G181A	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	181					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTGAAAGGAGTTACCAAT	0.408000													19	89					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149538	202149538	+	Splice_Site	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202149538G>C	ENST00000358485.4	+	8	1175		c.e8-1		CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392259.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCACTTTTCAGGGGCTTTGAC	0.418000										HNSCC(4;0.00038)			8	41					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524296	42524296	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:42524296C>G	ENST00000381668.5	-	22	2059	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A595P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	610					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAGCCACAGCAAAACATAAA	0.423000													4	61					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	881615	881615	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:881615G>A	ENST00000312090.6	-	7	1235	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	MED16_ENST00000589119.1_Missense_Mutation_p.S362L|MED16_ENST00000325464.1_Missense_Mutation_p.S362L|MED16_ENST00000269814.4_Missense_Mutation_p.S362L|MED16_ENST00000395808.3_Missense_Mutation_p.S362L|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	362					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGTGAGCGAGATGGGCAG	0.632000													15	79					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690449	27690449	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27690449C>T	ENST00000493901.1	-	6	1062	c.823G>A	c.(823-825)Gac>Aac	p.D275N	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D275N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D267N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	275					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATGATGTCGGGGCTCAGC	0.632000													6	24					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108923961	108923961	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:108923961C>T	ENST00000263054.6	-	1	331	c.324G>A	c.(322-324)agG>agA	p.R108R	SORCS1_ENST00000344440.6_Silent_p.R108R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	108						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCTCCGTCTCCTCCGGCCGG	0.706000													8	31					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	320					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488000													23	214					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950826	148950826	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:148950826C>G	ENST00000335870.2	+	5	936	c.808C>G	c.(808-810)Cta>Gta	p.L270V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGACTCTACTCTAGAGGAGCC	0.557000													16	80					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631576	67631576	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:67631576G>A	ENST00000272342.5	+	5	1892	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	588						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATTTGCCAATGAAATTATTAA	0.348000													15	88					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258011	139258011	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:139258011G>C	ENST00000406875.3	-	15	3353	c.3259C>G	c.(3259-3261)Ctg>Gtg	p.L1087V	HIPK2_ENST00000428878.2_Missense_Mutation_p.L1060V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1087	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTGCAGCCAGATGCGGGTGC	0.706000													9	56					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689560	14689560	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:14689560C>T	ENST00000240617.5	-	5	1295	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	215					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTAGGCTGCCGTTTTTTGTG	0.448000													17	97					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144654286	144654286	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:144654286C>T	ENST00000398882.3	-	2	620	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		AAGCCAGCCTCCTCCAGGCAG	0.662000													5	30					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648846	150648846	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:150648846G>A	ENST00000392968.2	-	5	2467	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	KCNH2_ENST00000262186.5_Silent_p.Y545Y|KCNH2_ENST00000430723.3_Silent_p.Y545Y|KCNH2_ENST00000330883.4_Silent_p.Y205Y			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	545					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CGGCCGCGCCGTACTCTGAGT	0.647000													6	33					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616180	248616180	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248616180C>G	ENST00000342927.3	+	1	104	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCGGGCTTCTCTTTGCAAT	0.527000													24	233					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802319	237802319	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:237802319G>C	ENST00000366574.2	+	46	7250	c.6933G>C	c.(6931-6933)gaG>gaC	p.E2311D	RYR2_ENST00000360064.6_Missense_Mutation_p.E2309D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2295D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2311	4 X approximate repeats.		E -> D (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTAGGGGAGAGTGTGGAGG	0.388000													3	28					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176959554	176959554	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176959554C>T	ENST00000443375.2	-	6	2384	c.826G>A	c.(826-828)Gag>Aag	p.E276K	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.E389K|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	414										kidney(1)|large_intestine(3)	4						TCCTCTTCCTCACCCAGCCCC	0.607000													4	9					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86844894	86844894	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:86844894G>A	ENST00000395184.1	+	4	828	c.362G>A	c.(361-363)cGc>cAc	p.R121H	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R121H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R26H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	121	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGTCAATCCGCCGAGTCATA	0.483000													6	48					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560474	178560474	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:178560474G>A	ENST00000432997.1	+	5	809	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E153K|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000451742.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	153					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAAAAATTTTGAAGAATCCAT	0.398000													35	98					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13113697	13113697	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:13113697C>G	ENST00000506447.1	+	41	7240	c.7160C>G	c.(7159-7161)tCt>tGt	p.S2387C	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1912C|CEP192_ENST00000325971.8_Missense_Mutation_p.S1791C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1982										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCAACTCTCTGGACAAGTG	0.378000													8	25					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211939	36211939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:36211939C>T	ENST00000420124.1	+	3	1690	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	WBP7_ENST00000222270.7_Nonsense_Mutation_p.R564*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron																							ACCTGTCCTGCGACCTCCCAT	0.622000													8	6					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156704058	156704058	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:156704058G>A	ENST00000368216.4	+	6	1524	c.894G>A	c.(892-894)ctG>ctA	p.L298L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	298						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GCTACCCACTGAGTCAGTGGG	0.622000													13	46					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46281393	46281393	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46281393C>G	ENST00000600757.1	-	5	1384	c.697G>C	c.(697-699)Gat>Cat	p.D233H	DMPK_ENST00000458663.2_Missense_Mutation_p.D223H|DMPK_ENST00000291270.4_Missense_Mutation_p.D223H|DMPK_ENST00000343373.4_Missense_Mutation_p.D233H|DMPK_ENST00000354227.5_Missense_Mutation_p.D223H|DMPK_ENST00000447742.2_Missense_Mutation_p.D223H			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	233	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACCGTTCCATCTGCCCGCAGC	0.617000													4	12					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134312437	134312437	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:134312437C>T	ENST00000275230.5	-	5	1865	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	570						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368000													10	75					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739712	102739712	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102739712G>A	ENST00000210633.3	+	9	1169	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R364H|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R364H			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	364	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCTGGGGTCGCTATGAGGGT	0.637000													20	147					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185231	130185231	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:130185231C>A	ENST00000422113.2	-	2	418	c.92G>T	c.(91-93)cGa>cTa	p.R31L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	31						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGATCCCTCGACCTTCCGT	0.547000													5	54					1	1	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049604	36049604	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:36049604C>T	ENST00000379919.4	-	1	1228	c.672G>A	c.(670-672)tcG>tcA	p.S224S	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	224					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CGCTCTCCGCCGAGCTCTGCT	0.612000													11	94					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210637960	210637960	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:210637960G>A	ENST00000367010.1	+	8	1195	c.968G>A	c.(967-969)cGc>cAc	p.R323H	HHAT_ENST00000391905.3_Missense_Mutation_p.R323H|HHAT_ENST00000261458.3_Missense_Mutation_p.R323H|HHAT_ENST00000308852.6_Missense_Mutation_p.R278H|HHAT_ENST00000413764.2_Missense_Mutation_p.R323H|HHAT_ENST00000545781.1_Missense_Mutation_p.R260H|HHAT_ENST00000367009.1_Missense_Mutation_p.R13H|HHAT_ENST00000545154.1_Missense_Mutation_p.R324H|HHAT_ENST00000541565.1_Missense_Mutation_p.R186H|HHAT_ENST00000537898.1_Missense_Mutation_p.R258H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	323					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCCCTCCCCCGCTGCGTGAGC	0.592000													11	65					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519946	159519946	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:159519946G>C	ENST00000389757.3	+	15	2691	c.2566G>C	c.(2566-2568)Ggc>Cgc	p.G856R	PKP4_ENST00000389759.3_Missense_Mutation_p.G856R|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	856				G -> S (in Ref. 1; CAA57478).	cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCTCTGCTGGCAACTGGAA	0.453000										HNSCC(62;0.18)			8	50					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172166087	172166087	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687000													7	42					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354189	57354189	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57354189G>A	ENST00000314922.3	-	2	522	c.446C>T	c.(445-447)tCg>tTg	p.S149L	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S149L	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	149					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATTGGCCAGCGAGTCGTCCTC	0.537000													21	99					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022239	18022239	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:18022239C>T	ENST00000262608.8	+	15	2344	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	CECR2_ENST00000400585.2_Missense_Mutation_p.R640C|CECR2_ENST00000400573.4_Missense_Mutation_p.R781C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	823					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCACCAGCCTCGCACTCTCGG	0.592000													9	47					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023497	167023497	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:167023497G>T	ENST00000392766.2	-	17	1999	c.1659C>A	c.(1657-1659)tcC>tcA	p.S553S	ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	553						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTCCAAGGATTCTTTGA	0.328000													4	59					0.014758	0.0149651	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113130973	113130973	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:113130973G>A	ENST00000316851.7	+	15	2029	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	NCAM1_ENST00000533760.1_Missense_Mutation_p.E559K|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	687	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGTGGTGGCTGAGAACCAGCA	0.557000													13	81					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447612	187447612	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:187447612G>C	ENST00000406870.2	-	5	947	c.581C>G	c.(580-582)tCt>tGt	p.S194C	BCL6_ENST00000232014.4_Missense_Mutation_p.S194C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S194C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	194					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATGGAATAAGAGGCTGGCGG	0.617000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								12	78					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56393610	56393610	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:56393610T>C	ENST00000423270.1	-	7	757	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	RFX7_ENST00000317318.6_Missense_Mutation_p.Y253C|RFX7_ENST00000422057.1_Missense_Mutation_p.Y156C|RFX7_ENST00000559447.2_Missense_Mutation_p.Y156C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	156					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGCCTATATAGTGACTTTT	0.453000													6	19					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388000													4	97					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18922828	18922828	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:18922828C>T	ENST00000317977.6	+	12	1815	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	SLC5A10_ENST00000417251.2_Missense_Mutation_p.S409L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.S418L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.S445L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.S461L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S415L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	445					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TACATGCAGTCAGTGACCAGC	0.632000													4	27					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102239703	102239703	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102239703G>T	ENST00000343737.5	+	3	303	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	59					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GTATCAGTTTGCCTGGGACCG	0.547000													7	50					5.18039e-06	5.64956e-06	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	41					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400197	47400197	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400197C>G	ENST00000310638.4	-	7	856	c.825G>C	c.(823-825)caG>caC	p.Q275H	CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q275H|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E120Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q276H	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	275					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCCCCTCCTTCTGTAGTTGAG	0.532000													11	77					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100275562	100275562	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:100275562G>A	ENST00000338687.7	-	10	1752	c.947C>T	c.(946-948)tCt>tTt	p.S316F	TRMT2B_ENST00000372935.1_Missense_Mutation_p.S361F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S316F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S361F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S361F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S361F			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	361							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAGCCAGAGAGAGGCCAAT	0.438000													22	42					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325211	152325211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:152325211G>T	ENST00000388718.5	-	3	5123	c.5051C>A	c.(5050-5052)tCa>tAa	p.S1684*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1684							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGATTCTGACTGTCCATG	0.488000													56	350					1.63038e-21	1.89992e-21	1	1	0
CRAT	1384	broad.mit.edu	37	9	131860841	131860841	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131860841C>T	ENST00000318080.2	-	9	1468	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	392					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTCTCGATGTCGCTCTTGATC	0.602000													30	135					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	97000466	97000466	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:97000466C>G	ENST00000369278.4	+	18	2160	c.2094C>G	c.(2092-2094)acC>acG	p.T698T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	698					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AGTTTTCAACCCACAGCATGC	0.423000													6	42					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481728	38481728	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:38481728G>T	ENST00000263409.4	-	20	3425	c.3263C>A	c.(3262-3264)aCa>aAa	p.T1088K	LIFR_ENST00000453190.2_Missense_Mutation_p.T1088K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1088					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAAAAGTTTGTAAAGGACCA	0.413000			T	PLAG1	salivary adenoma								27	128					4.87955e-14	5.64076e-14	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25264420	25264420	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:25264420C>A	ENST00000400358.4	+	11	1129	c.1072C>A	c.(1072-1074)Cac>Aac	p.H358N	SGSM1_ENST00000400359.4_Missense_Mutation_p.H358N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	358						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGGGCGGGCACCTCCTGCA	0.647000													13	62					9.05144e-12	1.02583e-11	1	1	0
STOML3	161003	broad.mit.edu	37	13	39546701	39546701	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39546701A>C	ENST00000379631.4	-	4	604	c.260T>G	c.(259-261)gTg>gGg	p.V87G	STOML3_ENST00000423210.1_Missense_Mutation_p.V78G	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	87						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTTGACAAACACATCTATGCA	0.368000													18	111					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685553	125685553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:125685553G>A	ENST00000371126.1	-	1	1281	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACCCTCTCGAGAACACAGG	0.612000													14	37					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152992	49152992	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49152992C>G	ENST00000453664.1	-	12	2055	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	USP19_ENST00000434032.2_Missense_Mutation_p.E589D|USP19_ENST00000398888.2_Missense_Mutation_p.E488D|USP19_ENST00000417901.1_Missense_Mutation_p.E591D|USP19_ENST00000398892.3_Missense_Mutation_p.E528D|USP19_ENST00000398896.1_Missense_Mutation_p.E296D|USP19_ENST00000398898.2_Missense_Mutation_p.E528D	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	488					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAccttcttctcttcctctt	0.552000													12	36					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945652	72945652	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945652G>T	ENST00000311131.2	+	3	915	c.448G>T	c.(448-450)Gct>Tct	p.A150S	P2RY2_ENST00000393597.2_Missense_Mutation_p.A150S|P2RY2_ENST00000393596.2_Missense_Mutation_p.A150S	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	150					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCCCGCTACGCTCGCCGGGT	0.701000													17	59					3.41278e-10	3.83772e-10	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	79					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769222	43769222	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:43769222G>A	ENST00000389420.3	-	36	5405	c.5406C>T	c.(5404-5406)ttC>ttT	p.F1802F		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1802	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTATTTTGCTGAAAACAGTGT	0.343000													9	53					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37563838	37563838	+	Missense_Mutation	SNP	T	T	C	rs149053045	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:37563838T>C	ENST00000300651.6	-	17	4859	c.4636A>G	c.(4636-4638)Atg>Gtg	p.M1546V	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1546					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTACTTGTCATAGACAAGGAC	0.473000										HNSCC(31;0.082)			17	118					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080244	194080244	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:194080244C>T	ENST00000347624.3	-	2	1614	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	LRRC15_ENST00000428839.1_Missense_Mutation_p.S516N|LRRC15_ENST00000439944.2_Missense_Mutation_p.S516N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	510						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCCACAGGGCTGGTTAGCTC	0.577000													9	52					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60508098	60508098	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:60508098G>A	ENST00000360469.5	+	14	2383	c.2295G>A	c.(2293-2295)acG>acA	p.T765T	CDH4_ENST00000543233.1_Silent_p.T691T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	765					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCGCCACACGAAGCAGCTGC	0.642000													6	52					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44619144	44619144	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:44619144G>A	ENST00000457408.2	-	5	670	c.618C>T	c.(616-618)ctC>ctT	p.L206L	TMED4_ENST00000289577.5_Silent_p.L157L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	206					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGTGAGGATGAGGATGACAG	0.532000													8	68					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964480	27964480	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:27964480G>A	ENST00000375790.5	-	6	1274	c.842C>T	c.(841-843)aCt>aTt	p.T281I	MKX_ENST00000419761.1_Missense_Mutation_p.T281I			Q8IYA7	MKX_HUMAN	mohawk homeobox	281					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GTTTTCCAGAGTGTCTGTAAA	0.378000													3	35					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378967	135378967	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:135378967G>A	ENST00000354042.4	-	10	1725	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	346						integral to plasma membrane	sodium:sulfate symporter activity	p.L346L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTTGCTCAGAGAGCAGGTC	0.388000													8	50					0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40764195	40764195	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:40764195C>G	ENST00000306243.5	+	1	1036	c.783C>G	c.(781-783)ccC>ccG	p.P261P	CHST14_ENST00000559991.1_Silent_p.P236P	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	261					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		TCACATTCCCCGAGTTCCTGA	0.602000													29	134					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412438	154412438	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:154412438G>A	ENST00000414028.2	+	3	1045	c.995G>A	c.(994-996)tGc>tAc	p.C332Y	OPRM1_ENST00000522236.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.C425Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.C332Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.C251Y|OPRM1_ENST00000330432.7_Missense_Mutation_p.C332Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000524163.1_Missense_Mutation_p.C332Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.C332Y	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	332					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACAAACAGCTGCCTCAACCCA	0.428000													20	97					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016697	1016697	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:1016697G>A	ENST00000421673.2	-	31	6154	c.6104C>T	c.(6103-6105)tCt>tTt	p.S2035F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2035	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.567000													39	353					0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165441	41165441	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:41165441C>T	ENST00000220507.4	-	3	675	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	176					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CGGATCTTCTCGGCCAGACCC	0.592000													13	125					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378172	55378172	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:55378172G>C	ENST00000326321.3	+	9	1387	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E435Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E452Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	452					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCAGGTCTTGAGGGGGTTTT	0.522000													31	194					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62521284	62521284	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:62521284C>T	ENST00000217121.5	+	9	748	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TPD52L2_ENST00000369927.4_Missense_Mutation_p.P160S|TPD52L2_ENST00000352482.4_Missense_Mutation_p.P217S|TPD52L2_ENST00000348257.5_Missense_Mutation_p.P183S|TPD52L2_ENST00000358548.4_Missense_Mutation_p.P197S|TPD52L2_ENST00000346249.4_Missense_Mutation_p.P203S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.P206S	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	203					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CCTGTCGGATCCCGCACCTTT	0.592000													6	42					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30975207	30975207	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30975207C>T	ENST00000402281.1	-	15	2012	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	PES1_ENST00000354694.6_Missense_Mutation_p.E480K|PES1_ENST00000402284.3_Missense_Mutation_p.E463K|PES1_ENST00000405677.1_Missense_Mutation_p.E341K|PES1_ENST00000335214.6_Missense_Mutation_p.E475K			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	480	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						tcttcctcctcctcctcattt	0.537000													8	31					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338337	28338337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:28338337C>T	ENST00000284987.5	-	1	495	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	125					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCGGTGGCGCCAGGGCGC	0.672000													6	38					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144704677	144704677	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:144704677G>T	ENST00000409214.1	-	12	1597	c.1319C>A	c.(1318-1320)gCa>gAa	p.A440E	AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392869.1_Missense_Mutation_p.A440E|GTDC1_ENST00000392867.3_Missense_Mutation_p.A355E|GTDC1_ENST00000463875.2_Missense_Mutation_p.A311E|GTDC1_ENST00000542155.1_Missense_Mutation_p.A440E|GTDC1_ENST00000409298.1_Missense_Mutation_p.A322E|GTDC1_ENST00000241391.5_Missense_Mutation_p.A355E|GTDC1_ENST00000344850.4_Missense_Mutation_p.A440E	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	440					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGTAGGGCTGCCCAAGAAAA	0.448000													8	43					0.00307968	0.00314497	1	1	0
UTP11L	51118	broad.mit.edu	37	1	38484767	38484767	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38484767G>A	ENST00000373014.4	+	5	440	c.379G>A	c.(379-381)Gat>Aat	p.D127N	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.D127N	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	127					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATCTGCTGGATTTCCAGGG	0.373000													6	66					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74035904	74035904	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:74035904C>G	ENST00000296805.3	-	12	1446	c.989G>C	c.(988-990)gGa>gCa	p.G330A	GFM2_ENST00000509430.1_Missense_Mutation_p.G330A|GFM2_ENST00000427854.2_Missense_Mutation_p.G330A|GFM2_ENST00000345239.2_Missense_Mutation_p.G330A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	330					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGGGCACTTCCACAAAGCAC	0.418000													5	47					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690932	30690932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30690932C>A	ENST00000215790.7	-	5	801	c.637G>T	c.(637-639)Gag>Tag	p.E213*	TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.E125*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.E220*|RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.E87*	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	213	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTGGTACCTCAGCAGGCATA	0.657000													14	67					1.3612e-06	1.50723e-06	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1122254	1122254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1122254C>A	ENST00000361757.3	-	11	1270	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.E345*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.E288*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	345					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGCCCTCTGAGGTAGTG	0.647000													3	10					0.00024832	0.000259078	1	1	0
ANGPT2	285	broad.mit.edu	37	8	6372251	6372251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:6372251G>A	ENST00000325203.5	-	6	1453	c.979C>T	c.(979-981)Cga>Tga	p.R327*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.R275*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.R326*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.R326*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	327	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCCTCACGTCGCTGAATAATT	0.478000													38	192					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35737723	35737723	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35737723G>C	ENST00000378088.1	-	2	812	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000378103.3_Intron			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	0					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGTGGAGAGATGGGAAAAG	0.493000													7	55					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307450	46307450	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:46307450C>G	ENST00000357422.2	+	4	1344	c.801C>G	c.(799-801)atC>atG	p.I267M	CCR3_ENST00000541018.1_Missense_Mutation_p.I267M|CCR3_ENST00000545097.1_Missense_Mutation_p.I288M|CCR3_ENST00000395940.2_Missense_Mutation_p.I267M|CCR3_ENST00000395942.2_Missense_Mutation_p.I267M			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	267					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ATCAATCCATCTTATTTGGAA	0.488000													22	65					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45405688	45405688	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:45405688G>C	ENST00000371438.1	+	4	943	c.585G>C	c.(583-585)aaG>aaC	p.K195N	RUNX2_ENST00000576263.1_Missense_Mutation_p.K195N|RUNX2_ENST00000352853.5_Missense_Mutation_p.K263N|RUNX2_ENST00000371432.3_Missense_Mutation_p.K181N|RUNX2_ENST00000371436.6_Missense_Mutation_p.K195N|RUNX2_ENST00000541979.1_Missense_Mutation_p.K263N|RUNX2_ENST00000359524.5_Missense_Mutation_p.K181N|RUNX2_ENST00000465038.2_Missense_Mutation_p.K195N	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	195	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGCAGGCAAGAGTTTCACCT	0.388000													20	133					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197665571	197665571	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:197665571C>T	ENST00000265239.6	-	5	787	c.363G>A	c.(361-363)ccG>ccA	p.P121P	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.P121P|IQCG_ENST00000453254.1_Silent_p.P121P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	121										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CAGTTATTAACGGACTGGGTA	0.388000													80	281					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578096	2578096	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:2578096G>T	ENST00000302956.4	+	6	758	c.664G>T	c.(664-666)Gct>Tct	p.A222S	AMDHD2_ENST00000293971.6_Missense_Mutation_p.A222S|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A222S|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGCAGAGGATGCTGTGTGGAG	0.687000													13	104					1.36491e-13	1.57155e-13	1	1	0
ASPA	443	broad.mit.edu	37	17	3392544	3392544	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:3392544C>A	ENST00000263080.2	+	4	700	c.542C>A	c.(541-543)cCt>cAt	p.P181H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P181H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	181			P -> T (in CAND).		aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GAAGTTGGTCCTCAGCCTCAA	0.308000													11	95					0.000673444	0.00069509	1	1	0
ARPC1B	10095	broad.mit.edu	37	7	98988876	98988876	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:98988876G>A	ENST00000451682.1	+	9	1092	c.783_splice	c.e9+1	p.A261_splice	ARPC1B_ENST00000252725.5_Splice_Site_p.A261_splice			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	261					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCAGCGGTGAGGAATA	0.612000													6	17					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21549414	21549414	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:21549414G>A	ENST00000382592.4	-	8	3267	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S	LATS2_ENST00000542899.1_Silent_p.S954S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	954	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTGGTCTGCGGAGCAGCACA	0.617000													6	45					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102469281	102469281	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:102469281G>C	ENST00000360184.4	+	23	5026	c.4862G>C	c.(4861-4863)aGa>aCa	p.R1621T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1621	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATCTGGAAAGAGAGCGGTCA	0.453000													10	46					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102732227	102732227	+	Silent	SNP	G	G	T	rs141604419		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:102732227G>T	ENST00000361847.2	-	3	376	c.145C>A	c.(145-147)Cga>Aga	p.R49R	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Intron|MOK_ENST00000522874.1_Silent_p.R49R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	49	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										TGGATCTCTCGTAGGTTGTTG	0.378000													8	52					0.000274275	0.000285128	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53876704	53876704	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53876704C>T	ENST00000267079.2	-	12	2009	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R628H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R628H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	595					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGAAGCCCACGGAGGGCGGG	0.672000													9	59					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115116	17115116	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:17115116C>T	ENST00000443236.1	-	8	812	c.781G>A	c.(781-783)Gcg>Acg	p.A261T	CPAMD8_ENST00000388925.4_Missense_Mutation_p.A214T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	214						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGTTGTACGCGTGGCCTTGC	0.463000													10	66					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136470273	136470273	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136470273G>A	ENST00000308191.6	+	5	670	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	123					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCTTGTTTGATCGCTTGAC	0.333000													9	41					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670253	131670253	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131670253C>T	ENST00000259324.5	+	3	1333	c.810C>T	c.(808-810)atC>atT	p.I270I	LRRC8A_ENST00000372599.3_Silent_p.I270I|LRRC8A_ENST00000372600.4_Silent_p.I270I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	270					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGACCATCATCAAGGTGATCA	0.542000													22	110					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326446	30326446	+	Silent	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:30326446C>A	ENST00000378970.4	-	1	1269	c.1035G>T	c.(1033-1035)ccG>ccT	p.P345P	NR0B1_ENST00000378963.1_Silent_p.P50P|NR0B1_ENST00000453287.1_Silent_p.P345P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	345	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTCCGCCGGCGGTGCCAAAT	0.637000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	16					0.000978159	0.00100601	1	1	0
P2RY2	5029	broad.mit.edu	37	11	72945651	72945651	+	Silent	SNP	C	C	T	rs147817701	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697000													17	57					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676094	33676094	+	RNA	SNP	C	C	G	rs7853346	by1000genomes	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:33676094C>G	ENST00000532280.1	-	0	1403					NR_023917.1																						CTATAATCCACATGATTCTTT	0.423000													5	110					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74670646	74670646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:74670646C>A	ENST00000541184.1	-	3	820	c.343G>T	c.(343-345)Gga>Tga	p.G115*	ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.G124*|ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.G124*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	124						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCTCCACTTCCAGTTCTTGTG	0.438000													14	53					6.49762e-13	7.42218e-13	1	1	0
MRPL4	51073	broad.mit.edu	37	19	10363274	10363274	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:10363274C>G	ENST00000393733.2	+	3	199	c.172C>G	c.(172-174)Cat>Gat	p.H58D	MRPL4_ENST00000590669.1_Missense_Mutation_p.H58D|MRPL4_ENST00000307422.5_Missense_Mutation_p.H58D|MRPL4_ENST00000253099.6_Missense_Mutation_p.H58D|MRPL4_ENST00000588502.1_Missense_Mutation_p.H57D|CTD-2369P2.5_ENST00000592893.1_RNA			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	58					translation	mitochondrion|ribosome	structural constituent of ribosome	p.H58D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGTACCCACTCATCGACGCCC	0.677000													7	65					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797649	185797649	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:185797649T>C	ENST00000306376.5	-	7	853	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	ETV5_ENST00000537818.1_Missense_Mutation_p.M245V|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.M203V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	203					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTTGGCATCTGCAGGGGC	0.562000			T	"""TMPRSS2, SCL45A3"""	Prostate								15	100					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35559199	35559199	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:35559199G>C	ENST00000262878.4	-	5	788	c.589C>G	c.(589-591)Ctc>Gtc	p.L197V	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	197	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGAACACAGAGAACATCTCGT	0.418000													17	120					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273442	26273442	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:26273442C>A	ENST00000381655.2	+	25	2485	c.2343C>A	c.(2341-2343)ttC>ttA	p.F781L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.F741L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	741					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGGAGTTTCCTGGATTTGG	0.542000													5	35					0.000602214	0.000623799	1	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744353	31744353	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:31744353C>A	ENST00000399889.2	-	1	204	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	60	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGGCTCCCAGCAGATCTCCTG	0.607000													12	87					3.07112e-06	3.37473e-06	1	1	0
NDUFV3	4731	broad.mit.edu	37	21	44317044	44317044	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:44317044T>A	ENST00000354250.2	+	2	125	c.56T>A	c.(55-57)cTc>cAc	p.L19H	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.L19H	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	19					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CAGACTATGCTCCAGGAAGCC	0.373000													16	94					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196585	19196585	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:19196585C>G	ENST00000263200.10	-	21	3361	c.3289G>C	c.(3289-3291)Gag>Cag	p.E1097Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1097Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1097	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCGCAAACTCATATGCCCGG	0.502000			T	?	ALCL								3	11					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183556034	183556034	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:183556034C>T	ENST00000413720.1	-	2	527	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NCF2_ENST00000367536.1_Missense_Mutation_p.E85K|NCF2_ENST00000418089.1_Missense_Mutation_p.E85K|NCF2_ENST00000367535.3_Missense_Mutation_p.E85K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	85					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACTTACTTCTCTGTCTGGTAG	0.507000													6	87					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380585	27380585	+	Missense_Mutation	SNP	G	G	A	rs76753427	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:27380585G>A	ENST00000323372.4	+	4	958	c.632G>A	c.(631-633)cGt>cAt	p.R211H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	211					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAGCTCCTCCGTCCCCTGGGC	0.542000													10	58					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116881500	116881500	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:116881500G>T	ENST00000355044.3	+	3	541	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ATRNL1_ENST00000527407.1_Missense_Mutation_p.A139S|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	139	CUB.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATCATTTTGCTACAGAATG	0.274000													23	103					1.66031e-10	1.87433e-10	1	1	0
ASPH	444	broad.mit.edu	37	8	62496531	62496531	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:62496531A>T	ENST00000541428.1	-	15	1107	c.947T>A	c.(946-948)cTt>cAt	p.L316H	ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.L345H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	345					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAGCATCAAGTTCAGCTTT	0.269000													9	35					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587000													19	132					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16146637	16146637	+	Silent	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:16146637C>A	ENST00000399408.2	+	11	1612	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	ABCC1_ENST00000346370.5_Silent_p.V479V|ABCC1_ENST00000345148.5_Silent_p.V479V|ABCC1_ENST00000351154.5_Silent_p.V479V|ABCC1_ENST00000399410.3_Silent_p.V479V|ABCC1_ENST00000349029.5_Silent_p.V479V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	479	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGTGCCCGTCAATGCTGTGA	0.572000													7	52					0.000157383	0.000164796	1	1	0
URI1	8725	broad.mit.edu	37	19	30502098	30502098	+	Missense_Mutation	SNP	C	C	G	rs149845017		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:30502098C>G	ENST00000392271.1	+	9	1430	c.905C>G	c.(904-906)tCt>tGt	p.S302C	URI1_ENST00000360605.4_Missense_Mutation_p.S360C|URI1_ENST00000542441.2_Missense_Mutation_p.S378C|URI1_ENST00000312051.6_Missense_Mutation_p.S338C	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	378	Poly-Asp.				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										AGTGGCCACTCTGCCCAGGAG	0.512000													12	104					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079803	57079803	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57079803G>T	ENST00000316981.3	-	5	981	c.502C>A	c.(502-504)Cac>Aac	p.H168N	PLAG1_ENST00000429357.2_Missense_Mutation_p.H168N|PLAG1_ENST00000423799.2_Missense_Mutation_p.H86N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	168	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GATTTAAGGTGCTCCAGAAGC	0.488000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								6	30					3.59834e-05	3.82323e-05	1	1	0
C2orf57	165100	broad.mit.edu	37	2	232458247	232458247	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:232458247G>C	ENST00000313965.2	+	1	673	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	195										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGCTGAGGAGAAAGCTGAGC	0.582000													15	75					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412235	139412235	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412235C>T	ENST00000277541.6	-	8	1485	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	470	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTCCCCAATCTGGTCCAGGC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	66					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													4	8	---	---	---	---					
BTNL8	79908	broad.mit.edu	37	5	180374749	180374750	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:180374749_180374750insA	ENST00000231229.4	+	4	1145_1146	c.911_912insA	c.(910-912)caafs	p.Q304fs	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Ins_p.Q304fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCAGGCCCAAAAAAGTAAT	0.480													35	216	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82584850	82584851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:82584850_82584851insT	ENST00000423517.2	-	5	5755_5756	c.5418_5419insA	c.(5416-5421)aacaaafs	p.NK1806fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NK1806fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1737					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTTCTTTGATTTTTTACTAG	0.396													18	116	---	---	---	---					
STOML2	30968	broad.mit.edu	37	9	35101723	35101724	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35101723_35101724delAG	ENST00000356493.5	-	5	489_490	c.427_428delCT	c.(427-429)gfs	p.L143fs	STOML2_ENST00000452248.2_Frame_Shift_Del_p.L143fs	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	143						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTTTGTCCAGAGAGAGTTTG	0.505													39	206	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118369144	118369158	+	In_Frame_Del	DEL	CAGCAACTATCACTT	CAGCAACTATCACTT	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:118369144_118369158delCAGCAACTATCACTT	ENST00000534358.1	+	22	5885_5899	c.5862_5876delCAGCAACTATCACTT	c.(5860-5877)acc>ac	p.TSNYHF1954del	KMT2A_ENST00000354520.4_In_Frame_Del_p.TSNYHF1913del|KMT2A_ENST00000389506.5_In_Frame_Del_p.TSNYHF1951del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CATCCTGCACCAGCAACTATCACTTCATGTGTTCC	0.437													27	303	---	---	---	---					
GPR135	64582	broad.mit.edu	37	14	59931664	59931682	+	Frame_Shift_Del	DEL	GCCGCCTCCGGGCCTAGCG	GCCGCCTCCGGGCCTAGCG	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:59931664_59931682delGCCGCCTCCGGGCCTAGCG	ENST00000395116.1	-	1	378_396	c.263_281delCGCTAGGCCCGGAGGCGGC	c.(262-282)cgfs	p.PLGPEAA88fs		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	88						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CAGCAGcggcgccgcctccgggcctagcggccgcctcac	0.758													3	5	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72821609	72821610	+	In_Frame_Ins	INS	-	-	CCG			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:72821609_72821610insCCG	ENST00000268489.5	-	10	11237_11238	c.10565_10566insCGG	c.(10564-10566)ggg>gCGGgg	p.3521_3522insA	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2607_2608insA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3521	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccgccgccacc	0.698													9	49	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													3	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20262849	20262850	+	RNA	INS	-	-	T	rs142097873		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:20262849_20262850insT	ENST00000593655.1	-	0	337				CTC-260E6.6_ENST00000586657.1_RNA																							TTTCttttttcttttttttttt	0.470													5	4	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													4	6	---	---	---	---					
MCM8	84515	broad.mit.edu	37	20	5974999	5974999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:5974999delA	ENST00000378896.3	+	19	2862	c.2485delA	c.(2485-2487)aafs	p.K830fs	MCM8_ENST00000378886.2_Frame_Shift_Del_p.K870fs|MCM8_ENST00000265187.4_Frame_Shift_Del_p.K814fs|MCM8_ENST00000378883.1_Frame_Shift_Del_p.K783fs	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	830					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTACCTCTTGAAAAAAGGCCC	0.378													14	52	---	---	---	---					
