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
DPAGT1	1798	broad.mit.edu	37	11	118968249	118968249	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:118968249C>T	ENST00000409993.2	-	9	2481	c.930G>A	c.(928-930)aaG>aaA	p.K310K	DPAGT1_ENST00000432443.2_Silent_p.K203K|DPAGT1_ENST00000354202.4_Silent_p.K310K			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	310					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GTTTGCCTGTCTTGATATTGA	0.468000													9	65					0	0	0.013537	0	0
OR3A2	4995	broad.mit.edu	37	17	3181432	3181432	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:3181432G>A	ENST00000408891.2	-	1	836	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	266					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TCATGTAGTTGAAGATACCTC	0.483000													10	51					0	0	0.006214	0	0
XKRX	402415	broad.mit.edu	37	X	100177842	100177842	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:100177842G>A	ENST00000328526.5	-	2	1148	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	XKRX_ENST00000372956.2_Missense_Mutation_p.P182S|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	182						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GTCAGCTGGGGCACTGAGCCC	0.572000													31	58					0	0	0.007291	0	0
DAGLA	747	broad.mit.edu	37	11	61505219	61505219	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:61505219C>A	ENST00000257215.5	+	15	1691	c.1575C>A	c.(1573-1575)ctC>ctA	p.L525L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	525					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.L525L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAAAGACCTCGTCCCCAGGT	0.627000													17	29					5.3912e-06	5.85914e-06	0.006122	1	0
KDM5C	8242	broad.mit.edu	37	X	53230843	53230843	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:53230843C>G	ENST00000452825.3	-	12	2281	c.1749G>C	c.(1747-1749)aaG>aaC	p.K583N	KDM5C_ENST00000404049.3_Missense_Mutation_p.K649N|KDM5C_ENST00000375383.3_Missense_Mutation_p.K609N|KDM5C_ENST00000375401.3_Missense_Mutation_p.K650N|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.K650N	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	650	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGCAGCCATCTTGCAGATAA	0.582000			"""N, F, S"""		clear cell renal carcinoma								13	41					0	0	0.013537	0	0
GRPR	2925	broad.mit.edu	37	X	16170438	16170438	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:16170438C>T	ENST00000380289.2	+	3	1223	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	275					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGTTCGCCTTCTGCTGGCTCC	0.547000													37	116					0	0	0.004878	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747142	10747142	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10747142C>T	ENST00000586078.1	+	15	1486	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000407327.4_Silent_p.F457F|SLC44A2_ENST00000335757.5_Silent_p.F459F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647000													72	49					0	0	0.014410	0	0
VSTM2A	222008	broad.mit.edu	37	7	54614659	54614659	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:54614659G>C	ENST00000302287.3	+	3	672	c.266G>C	c.(265-267)aGa>aCa	p.R89T	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R89T|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R88T|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R89T|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R89T			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	89	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TTGCCCGACAGAGACCCGGAC	0.726000													11	39					0	0	0.003163	0	0
UBE2C	11065	broad.mit.edu	37	20	44442091	44442091	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:44442091G>A	ENST00000405520.1	+	0	837				UBE2C_ENST00000335046.3_Silent_p.L39L|UBE2C_ENST00000372568.4_De_novo_Start_InFrame|UBE2C_ENST00000352551.5_Silent_p.L39L|UBE2C_ENST00000356455.4_Silent_p.L39L|UBE2C_ENST00000243893.6_Silent_p.L39L			O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGCAGGAGCTGATGACCCTCA	0.517000													32	141					0	0	0.003755	0	0
XPR1	9213	broad.mit.edu	37	1	180794031	180794031	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:180794031C>T	ENST00000367590.4	+	8	1104	c.906C>T	c.(904-906)atC>atT	p.I302I	XPR1_ENST00000367589.3_Silent_p.I302I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	302						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATGTACTCATCTTTGAACTTA	0.383000													17	27					0	0	0.006122	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222276	118222276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:118222276C>A	ENST00000402510.2	-	11	2916	c.2917G>T	c.(2917-2919)Gaa>Taa	p.E973*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	973										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATGCTCTCTTCAACAGCCATG	0.473000													4	46					0.00909568	0.00964893	0.009096	1	0
DNAH3	55567	broad.mit.edu	37	16	21151926	21151926	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:21151926G>T	ENST00000261383.3	-	5	626	c.627C>A	c.(625-627)ctC>ctA	p.L209L	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L209L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATGACATCGAGCTGCTGTT	0.483000													25	34					1.50538e-07	1.6495e-07	0.006320	1	0
WDR47	22911	broad.mit.edu	37	1	109538400	109538400	+	Missense_Mutation	SNP	G	G	A	rs141359680		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:109538400G>A	ENST00000357672.3	-	7	1784	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR47_ENST00000369962.3_Missense_Mutation_p.S498L|WDR47_ENST00000400794.3_Missense_Mutation_p.S506L|WDR47_ENST00000369965.4_Missense_Mutation_p.S499L|WDR47_ENST00000361054.3_Missense_Mutation_p.S470L			O94967	WDR47_HUMAN	WD repeat domain 47	498	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GTTGAGTGCTGATACCTCATT	0.353000													73	84					0	0	0.014410	0	0
USP5	8078	broad.mit.edu	37	12	6973993	6973993	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6973993C>T	ENST00000229268.8	+	18	2404	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	USP5_ENST00000389231.5_Silent_p.I761I	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	784					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCGACTCCATCTCTGAGTCTG	0.562000													23	36					0	0	0.002780	0	0
TECPR2	9895	broad.mit.edu	37	14	102843233	102843233	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:102843233C>G	ENST00000359520.7	+	2	401	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.L59V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	59							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATGCTCTATCTGTACTGCCG	0.552000													10	11					0	0	0.006214	0	0
NARS2	79731	broad.mit.edu	37	11	78176958	78176958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:78176958G>C	ENST00000281038.5	-	11	1503	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L	NARS2_ENST00000528850.1_Missense_Mutation_p.F149L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	376					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCCTCATGTAGAAAGGCTTGA	0.423000													9	29					0	0	0.008291	0	0
DUSP8	1850	broad.mit.edu	37	11	1579095	1579095	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:1579095G>C	ENST00000397374.3	-	6	877	c.750C>G	c.(748-750)atC>atG	p.I250M	DUSP8_ENST00000331588.4_Missense_Mutation_p.I250M|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	250	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CAGAGCGGGAGATGCCAGCCA	0.612000													10	22					0	0	0.008291	0	0
CLRN1	7401	broad.mit.edu	37	3	150645819	150645819	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:150645819C>G	ENST00000327047.1	-	3	893	c.603G>C	c.(601-603)ctG>ctC	p.L201L	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.L214L|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Intron|RP11-166N6.3_ENST00000569170.1_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	201					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGCCCATTCAGAAAATGAA	0.358000													36	49					0	0	0.004289	0	0
HECTD4	283450	broad.mit.edu	37	12	112673537	112673537	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:112673537G>T	ENST00000550722.1	-	36	5453	c.5058C>A	c.(5056-5058)ctC>ctA	p.L1686L	HECTD4_ENST00000377560.5_Silent_p.L1660L|HECTD4_ENST00000430131.2_Silent_p.L1410L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGGGAGAGGAGTTTGGACA	0.522000													8	15					0.000274275	0.000294369	0.004482	1	0
BIRC6	57448	broad.mit.edu	37	2	32768338	32768338	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32768338C>G	ENST00000421745.2	+	62	12456	c.12322C>G	c.(12322-12324)Cag>Gag	p.Q4108E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4108					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTACCACTCAGGAAAAGCC	0.428000													7	114					0	0	0.003080	0	0
NLRC4	58484	broad.mit.edu	37	2	32475309	32475309	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475309C>T	ENST00000404025.2	-	5	2112	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E542K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E542K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	542					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATTTCTTGCTCAGTGGTGTTT	0.453000													13	73					0	0	0.003163	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061780	13061780	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:13061780C>T	ENST00000014914.5	+	2	1487	c.597C>T	c.(595-597)ttC>ttT	p.F199F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	199						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCTTCACCTTCTGTGGTTCCT	0.567000													67	52					0	0	0.014410	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123730456	123730456	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:123730456G>C	ENST00000538652.1	-	3	659	c.22C>G	c.(22-24)Cta>Gta	p.L8V	NSMCE4A_ENST00000369017.5_Missense_Mutation_p.L167V|NSMCE4A_ENST00000369023.3_Missense_Mutation_p.L167V|NSMCE4A_ENST00000489266.1_5'UTR			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	167										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				GAACTTACTAGAGTTTCAACA	0.358000													13	13					0	0	0.001855	0	0
WNK1	65125	broad.mit.edu	37	12	939308	939308	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:939308C>T	ENST00000537687.1	+	4	1936	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	WNK1_ENST00000315939.6_Silent_p.I431I|WNK1_ENST00000530271.2_Silent_p.I431I|WNK1_ENST00000535572.1_Silent_p.I431I|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	431	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGCACAGATCTACCGTCGCG	0.433000													12	18					0	0	0.010729	0	0
LY9	4063	broad.mit.edu	37	1	160793322	160793322	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:160793322C>G	ENST00000368037.5	+	8	1638	c.1524C>G	c.(1522-1524)ctC>ctG	p.L508L	LY9_ENST00000368041.2_Silent_p.L392L|LY9_ENST00000263285.6_Silent_p.L522L|LY9_ENST00000341032.4_Silent_p.L418L|LY9_ENST00000368040.1_Silent_p.L160L|LY9_ENST00000392203.4_Silent_p.L432L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACACTCCCCTCAGGCCTGCCA	0.557000													11	42					0	0	0.008291	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457717	202457717	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:202457717C>G	ENST00000608999.1	+	14	2060	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S636C|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAAGCACGCTCCAGACAAGCT	0.433000													3	14					0	0	0.004672	0	0
SHE	126669	broad.mit.edu	37	1	154474046	154474046	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:154474046G>C	ENST00000304760.2	-	1	543	c.457C>G	c.(457-459)Cag>Gag	p.Q153E		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	153										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCTTCTCCTGAGTGTCCACC	0.632000													13	17					0	0	0.013537	0	0
NRXN1	9378	broad.mit.edu	37	2	50724685	50724685	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:50724685C>T	ENST00000404971.1	-	15	4124	c.2785G>A	c.(2785-2787)Gat>Aat	p.D929N	NRXN1_ENST00000402717.3_Missense_Mutation_p.D881N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D889N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.D889N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D881N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D889N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	889	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCACAGTAATCTATGTCGCCA	0.438000													3	28					0	0	0.004672	0	0
DCT	1638	broad.mit.edu	37	13	95131237	95131237	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:95131237G>A	ENST00000377028.5	-	1	686	c.273C>T	c.(271-273)ttC>ttT	p.F91F	DCT_ENST00000446125.1_Silent_p.F91F	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	91					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGTCCGGTGGAAGAATTTTC	0.587000													10	57					0	0	0.010729	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763610	62763610	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:62763610G>T	ENST00000336232.2	-	6	911	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	SLC22A8_ENST00000430500.2_Missense_Mutation_p.S259Y|SLC22A8_ENST00000311438.8_Missense_Mutation_p.S259Y|SLC22A8_ENST00000545207.1_Missense_Mutation_p.S168Y|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Missense_Mutation_p.S136Y	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	259					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCAGCGTATGGACTCTGGTGT	0.577000													12	20					4.3838e-07	4.79274e-07	0.001855	1	0
ANK3	288	broad.mit.edu	37	10	61828856	61828856	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:61828856T>C	ENST00000280772.2	-	37	11974	c.11783A>G	c.(11782-11784)aAa>aGa	p.K3928R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCACATGCTTTTCTAACTGC	0.443000													78	91					0	0	0.014410	0	0
TRIM25	7706	broad.mit.edu	37	17	54981706	54981706	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:54981706C>T	ENST00000316881.4	-	3	886	c.837G>A	c.(835-837)caG>caA	p.Q279Q	TRIM25_ENST00000537230.1_Silent_p.Q279Q	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	279	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGAGGAGAATCTGATAAATGG	0.493000													86	39					0	0	0.014410	0	0
RLBP1	6017	broad.mit.edu	37	15	89758308	89758308	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:89758308C>T	ENST00000268125.5	-	6	947	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	170	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.E170*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AAGGTGATTTCTTGACTTTGC	0.577000													15	69					0	0	0.002450	0	0
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Missense_Mutation	SNP	C	C	G	rs144123569	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475708C>G	ENST00000404025.2	-	5	1713	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.E409Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E409Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473000													6	22					0	0	0.001984	0	0
ZNF91	7644	broad.mit.edu	37	19	23545343	23545343	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:23545343G>T	ENST00000300619.7	-	4	643	c.438C>A	c.(436-438)ctC>ctA	p.L146L	ZNF91_ENST00000397082.2_Silent_p.L114L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGCAGTTGTGAGACACTGGT	0.323000													11	80					0.000673444	0.000719617	0.008291	1	0
SMCHD1	23347	broad.mit.edu	37	18	2769785	2769785	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:2769785G>C	ENST00000320876.6	+	38	5151	c.4813G>C	c.(4813-4815)Gaa>Caa	p.E1605Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1605Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1605					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGAACCTTAGAACCATATAT	0.373000													6	3					0	0	0.003080	0	0
UBE3B	89910	broad.mit.edu	37	12	109945373	109945373	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:109945373C>G	ENST00000342494.3	+	15	2050	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Silent_p.L485L|UBE3B_ENST00000434735.2_Silent_p.L485L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	485					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCCAGGTCTCACTTACCTTG	0.473000													17	76					0	0	0.010504	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823849	176823849	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:176823849C>T	ENST00000324417.5	+	11	1381	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	430					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCACTCATCGGTGAGTGCC	0.632000													41	19					0	0	0.006999	0	0
IGHA1	3493	broad.mit.edu	37	14	106173591	106173591	+	RNA	SNP	G	G	A	rs71682321		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:106173591G>A	ENST00000390547.2	-	0	975																											ATGGTCTTCTGTGTGAAGGCC	0.637000													9	35					0	0	0.006214	0	0
OTOP2	92736	broad.mit.edu	37	17	72927104	72927104	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:72927104C>T	ENST00000331427.4	+	6	1466	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	OTOP2_ENST00000580223.1_Silent_p.S458S	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	458						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ACACGTTGTCCGCCTGCCCAC	0.657000													19	83					0	0	0.010504	0	0
AAAS	8086	broad.mit.edu	37	12	53702581	53702581	+	Missense_Mutation	SNP	C	C	G	rs140920186		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:53702581C>G	ENST00000209873.4	-	11	1180	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	AAAS_ENST00000394384.3_Missense_Mutation_p.D306H|AAAS_ENST00000550286.1_Missense_Mutation_p.D215H	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	339					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CGGCTGCCATCTGGGCTCCAG	0.517000													47	213					0	0	0.010771	0	0
LIFR	3977	broad.mit.edu	37	5	38482260	38482260	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:38482260G>C	ENST00000263409.4	-	20	2893	c.2731C>G	c.(2731-2733)Ctg>Gtg	p.L911V	LIFR_ENST00000453190.2_Missense_Mutation_p.L911V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	911					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)					CGAGTTTCCAGAACCTCAACA	0.378000			T	PLAG1	salivary adenoma								33	62					0	0	0.003271	0	0
SCN11A	11280	broad.mit.edu	37	3	38921498	38921498	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:38921498G>A	ENST00000302328.3	-	19	3534	c.3336C>T	c.(3334-3336)ttC>ttT	p.F1112F	SCN11A_ENST00000456224.3_Silent_p.F1074F|SCN11A_ENST00000444237.2_Silent_p.F1112F|SCN11A_ENST00000450244.1_Silent_p.F1112F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1112					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCCAAATCCGAAGGCTACCC	0.403000													12	18					0	0	0.013537	0	0
LAMA1	284217	broad.mit.edu	37	18	7050704	7050704	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:7050704C>G	ENST00000389658.3	-	4	670	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	193	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCATGCTCAAGTGGCACC	0.473000													9	23					0	0	0.010729	0	0
HSPG2	3339	broad.mit.edu	37	1	22158028	22158028	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:22158028C>T	ENST00000374695.3	-	83	11459	c.11380G>A	c.(11380-11382)Gag>Aag	p.E3794K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3794	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TAGAGTTCCTCGTTCAGATCC	0.622000													7	52					0	0	0.006214	0	0
RBM19	9904	broad.mit.edu	37	12	114374848	114374848	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:114374848C>T	ENST00000545145.2	-	16	2110	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	RBM19_ENST00000392561.3_Missense_Mutation_p.E678K|RBM19_ENST00000261741.5_Missense_Mutation_p.E678K|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	678					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCATGGGTTCTGAAGGTGTG	0.552000													13	98					0	0	0.013537	0	0
ZNF567	163081	broad.mit.edu	37	19	37210006	37210006	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:37210006C>T	ENST00000585696.1	+	3	1517	c.287C>T	c.(286-288)tCa>tTa	p.S96L	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.S96L|ZNF567_ENST00000392163.2_Missense_Mutation_p.S96L|ZNF567_ENST00000536254.2_Missense_Mutation_p.S127L|ZNF567_ENST00000588311.1_Missense_Mutation_p.S96L			Q8N184	ZN567_HUMAN	zinc finger protein 567	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTGTGAATTCAAAAAATCTA	0.318000													5	29					0	0	0.000602	0	0
DALRD3	55152	broad.mit.edu	37	3	49054908	49054908	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:49054908C>T	ENST00000440857.1	-	5	958	c.256G>A	c.(256-258)Gag>Aag	p.E86K	DALRD3_ENST00000395462.4_Missense_Mutation_p.E86K|DALRD3_ENST00000441576.2_Missense_Mutation_p.E253K|DALRD3_ENST00000341949.4_Missense_Mutation_p.E253K|DALRD3_ENST00000313778.5_Missense_Mutation_p.E86K			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	253					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATAGAGCCTCTTGCAGCTCA	0.542000													6	36					0	0	0.001984	0	0
PATZ1	23598	broad.mit.edu	37	22	31722909	31722909	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31722909C>G	ENST00000266269.5	-	5	2661	c.2032G>C	c.(2032-2034)Gac>Cac	p.D678H	PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.D632H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	678					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGCTGCTGGTCAACCTCAGGA	0.537000													7	28					0	0	0.001984	0	0
SKA2	348235	broad.mit.edu	37	17	57232376	57232376	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:57232376G>C	ENST00000580541.1	-	1	169	c.69C>G	c.(67-69)gtC>gtG	p.V23V	SKA2_ENST00000583927.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000437036.2_Silent_p.V23V|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000581068.1_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						GAGGGAACTCGACTCTGGTCC	0.602000													12	82					0	0	0.010729	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082487	140082487	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140082487C>A	ENST00000323927.2	-	2	190	c.186G>T	c.(184-186)ctG>ctT	p.L62L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGTGGCCCCTCAGAACCTCCA	0.632000													10	18					0.000442599	0.000474329	0.006214	1	0
DSG4	147409	broad.mit.edu	37	18	28956889	28956889	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:28956889C>T	ENST00000359747.4	+	1	44	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.F5F|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	5					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGGCTCTTCTTCAGAAACA	0.433000													7	34					0	0	0.003080	0	0
CNTLN	54875	broad.mit.edu	37	9	17388239	17388239	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:17388239G>C	ENST00000380647.3	+	14	2151	c.2067G>C	c.(2065-2067)caG>caC	p.Q689H	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q689H|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q689H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	689						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGTTGGAGCAGACATTACAGA	0.333000													31	93					0	0	0.010818	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036567	57036567	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:57036567G>C	ENST00000371149.3	-	4	1015	c.785C>G	c.(784-786)tCc>tGc	p.S262C	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S273C|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	262						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTGCACATCGGAGCGGGCAAT	0.667000													3	0					0	0	0.004672	0	0
ATAD2	29028	broad.mit.edu	37	8	124358919	124358919	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:124358919C>T	ENST00000287394.5	-	17	2391	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	ATAD2_ENST00000521903.1_Missense_Mutation_p.G80R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAGAAAGTCCATTTTCATAA	0.294000													15	38					0	0	0.004007	0	0
RYR2	6262	broad.mit.edu	37	1	237982488	237982488	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:237982488A>G	ENST00000366574.2	+	101	14903	c.14586A>G	c.(14584-14586)atA>atG	p.I4862M	RYR2_ENST00000360064.6_Missense_Mutation_p.I4868M|RYR2_ENST00000542537.1_Missense_Mutation_p.I4846M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4862					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)			TGGCCATAATACAAGGTAAGT	0.378000													20	53					0	0	0.007413	0	0
PTPRF	5792	broad.mit.edu	37	1	44083231	44083231	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:44083231C>G	ENST00000359947.4	+	24	4527	c.4187C>G	c.(4186-4188)tCt>tGt	p.S1396C	PTPRF_ENST00000372414.3_Missense_Mutation_p.S1396C|PTPRF_ENST00000422171.2_Missense_Mutation_p.S755C|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1387C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1387C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1396	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCTTACCTCTATCGATGGT	0.547000													56	88					0	0	0.014410	0	0
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:50307071G>A	ENST00000330817.6	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552000													7	38					0	0	0.003080	0	0
EEPD1	80820	broad.mit.edu	37	7	36193942	36193942	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:36193942C>T	ENST00000242108.4	+	2	727	c.9C>T	c.(7-9)agC>agT	p.S3S	EEPD1_ENST00000534978.1_Silent_p.S3S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	3					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCATGGGGAGCACCCTGGGCT	0.622000													10	20					0	0	0.006214	0	0
NRXN1	9378	broad.mit.edu	37	2	50765638	50765638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:50765638C>G	ENST00000404971.1	-	11	3355	c.2016G>C	c.(2014-2016)tgG>tgC	p.W672C	NRXN1_ENST00000402717.3_Missense_Mutation_p.W624C|NRXN1_ENST00000401669.2_Missense_Mutation_p.W632C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.W632C|NRXN1_ENST00000405472.3_Missense_Mutation_p.W624C|NRXN1_ENST00000406316.2_Missense_Mutation_p.W632C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	632	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGAGCAGTCCACACCTCGG	0.522000													21	193					0	0	0.010504	0	0
C10orf35	219738	broad.mit.edu	37	10	71392690	71392690	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:71392690C>G	ENST00000373279.4	+	4	400	c.241C>G	c.(241-243)Ctt>Gtt	p.L81V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	81						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCAGTGGCATCTTGGCAACCA	0.617000													24	26					0	0	0.002780	0	0
PDIA5	10954	broad.mit.edu	37	3	122811201	122811201	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:122811201G>C	ENST00000316218.7	+	3	264		c.e3-1			NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5						cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTTTTTTACAGAGGTGGCAGC	0.502000													8	60					0	0	0.003080	0	0
CRX	1406	broad.mit.edu	37	19	48342841	48342841	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:48342841G>C	ENST00000221996.7	+	4	723	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CRX_ENST00000539067.1_Missense_Mutation_p.E173Q|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	173					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCTTTGCCTGAGGCGCAGCG	0.682000													18	33					0	0	0.004990	0	0
CLCN5	1184	broad.mit.edu	37	X	49837169	49837169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:49837169C>T	ENST00000376088.3	+	6	982	c.341C>T	c.(340-342)aCa>aTa	p.T114I	CLCN5_ENST00000307367.2_Missense_Mutation_p.T44I|CLCN5_ENST00000376108.3_Missense_Mutation_p.T44I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T114I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	44					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AAAGAGTCAACATGGGCCTTA	0.363000													10	60					0	0	0.008291	0	0
BICC1	80114	broad.mit.edu	37	10	60577426	60577426	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:60577426G>C	ENST00000373886.3	+	19	2642	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	880	SAM.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGACCTCCCTGAGCTCTTCAG	0.423000													10	54					0	0	0.006214	0	0
IGF2R	3482	broad.mit.edu	37	6	160505216	160505216	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:160505216C>T	ENST00000356956.1	+	40	6216	c.6068C>T	c.(6067-6069)tCg>tTg	p.S2023L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2023					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AACGGAGTCTCGTGAGTGCCT	0.557000													9	7					0	0	0.004482	0	0
DISP1	84976	broad.mit.edu	37	1	223177878	223177878	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:223177878G>A	ENST00000284476.6	+	8	3303	c.3139G>A	c.(3139-3141)Ggc>Agc	p.G1047S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1047					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGTTGCCGTCGGCTTGTCTGT	0.522000													23	84					0	0	0.002780	0	0
TCF12	6938	broad.mit.edu	37	15	57543601	57543601	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:57543601G>A	ENST00000267811.5	+	14	1472	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	TCF12_ENST00000559710.1_Missense_Mutation_p.E24K|TCF12_ENST00000559703.1_Missense_Mutation_p.E24K|TCF12_ENST00000333725.5_Missense_Mutation_p.E390K|TCF12_ENST00000543579.1_Missense_Mutation_p.E220K|TCF12_ENST00000438423.2_Missense_Mutation_p.E390K|TCF12_ENST00000452095.2_Missense_Mutation_p.E386K|TCF12_ENST00000557843.1_Missense_Mutation_p.E390K|TCF12_ENST00000343827.3_Missense_Mutation_p.E220K|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_Missense_Mutation_p.E154K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	390					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCAAGCTATGAAAACTCACT	0.438000			T	TEC	extraskeletal myxoid chondrosarcoma								7	23					0	0	0.004482	0	0
HCN4	10021	broad.mit.edu	37	15	73615460	73615460	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:73615460T>C	ENST00000261917.3	-	8	3967	c.2974A>G	c.(2974-2976)Agc>Ggc	p.S992G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	992	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCTGGCGTGCTCAGTGGGCCA	0.697000													8	11					0	0	0.003080	0	0
MST1L	11223	broad.mit.edu	37	1	17084515	17084515	+	RNA	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:17084515G>C	ENST00000455405.2	-	0	374																											CTGTAGGCCTGGCTCTCCATG	0.577000													4	82					0	0	0.000602	0	0
CNTN5	53942	broad.mit.edu	37	11	100061879	100061879	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:100061879G>C	ENST00000524871.1	+	14	1892	c.1602G>C	c.(1600-1602)ggG>ggC	p.G534G	CNTN5_ENST00000279463.3_Silent_p.G534G|CNTN5_ENST00000527185.1_Silent_p.G534G|CNTN5_ENST00000528682.1_Silent_p.G534G|CNTN5_ENST00000418526.2_Silent_p.G460G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	534	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTCCAGACGGGAGTCTACGGA	0.373000													4	15					0	0	0.009096	0	0
TOX	9760	broad.mit.edu	37	8	59764173	59764173	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:59764173G>A	ENST00000361421.1	-	4	823	c.603C>T	c.(601-603)ccC>ccT	p.P201P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	201						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGAGTTGTGGGGAACATTGC	0.483000													24	22					0	0	0.003330	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340614	136340614	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:136340614C>T	ENST00000371899.4	-	5	759	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.E228K	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	228						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		AGGGCCTCTTCGTCCCTGCCC	0.667000													5	20					0	0	0.003080	0	0
CTSS	1520	broad.mit.edu	37	1	150724422	150724422	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:150724422C>T	ENST00000368985.3	-	5	722	c.462G>A	c.(460-462)ctG>ctA	p.L154L	CTSS_ENST00000448301.2_Silent_p.L104L|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	154					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTGTTTTCAGCTTCAGCT	0.493000													25	33					0	0	0.004656	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:60703933C>G	ENST00000005286.4	+	11	2782	c.2629C>G	c.(2629-2631)Cag>Gag	p.Q877E	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q876E	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	876	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q877E(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGCGCTATCAGCGCAAAGA	0.607000													29	70					0	0	0.008361	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601374	58601374	+	Missense_Mutation	SNP	C	C	G	rs139906842		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:58601374C>G	ENST00000240727.6	-	2	660	c.261G>C	c.(259-261)caG>caC	p.Q87H	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q143H|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q87H|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	87	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTCCAGCATCTGCTCCTTGG	0.647000													28	34					0	0	0.006320	0	0
TAF11	6882	broad.mit.edu	37	6	34846442	34846442	+	Nonstop_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:34846442C>A	ENST00000420584.2	-	4	548	c.464G>T	c.(463-465)tGa>tTa	p.*155L	TAF11_ENST00000361288.4_Missense_Mutation_p.M187I|UHRF1BP1_ENST00000452449.2_Intron	NM_001270488.1	NP_001257417.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	0			S -> F (in dbSNP:rs11537996).		positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						CGGCTTCCCTCATATGTTTGG	0.408000													11	65					1.61879e-10	1.7939e-10	0.013537	1	0
ASH1L	55870	broad.mit.edu	37	1	155317560	155317560	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:155317560C>G	ENST00000368346.3	-	20	8344	c.7705G>C	c.(7705-7707)Gag>Cag	p.E2569Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2564Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2569					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGAGGTCTCACTGCTGTCT	0.498000													19	103					0	0	0.006122	0	0
DDX31	64794	broad.mit.edu	37	9	135523593	135523593	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:135523593G>A	ENST00000372159.3	-	11	1416	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	DDX31_ENST00000310532.2_Missense_Mutation_p.S422L|DDX31_ENST00000372153.1_Missense_Mutation_p.S422L|DDX31_ENST00000438527.3_Missense_Mutation_p.S293L	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	422	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAGTGTCGCTGATAGCAAGAC	0.403000													9	18					0	0	0.006214	0	0
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	rs151253216		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.H126Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294000													6	31					0	0	0.001984	0	0
CLCN3P1	100419056	broad.mit.edu	37	9	15019560	15019560	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:15019560G>A	ENST00000609203.1	-	0	764																											CAGAAATTATGAAGGATCATC	0.323000													6	16					0	0	0.001168	0	0
PTPRC	5788	broad.mit.edu	37	1	198723483	198723483	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:198723483C>G	ENST00000367376.2	+	32	3760	c.3589C>G	c.(3589-3591)Caa>Gaa	p.Q1197E	PTPRC_ENST00000594404.1_Missense_Mutation_p.Q1036E|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q1038E|PTPRC_ENST00000442510.2_Missense_Mutation_p.Q1199E|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q1149E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1197	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGATATTTTTCAAGTGGTAAA	0.378000													21	57					0	0	0.012319	0	0
MIER2	54531	broad.mit.edu	37	19	311857	311857	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:311857G>C	ENST00000264819.4	-	10	982	c.972C>G	c.(970-972)atC>atG	p.I324M		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	324	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TGTTGGCCTGGATCAGGTGAA	0.622000													4	17					0	0	0.009096	0	0
ADRA2A	150	broad.mit.edu	37	10	112838079	112838079	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:112838079G>A	ENST00000280155.2	+	1	1290	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	94					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTGGCCAACGAGGTCATGGG	0.632000													11	16					0	0	0.008291	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410802	121410802	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:121410802G>C	ENST00000393667.3	-	14	7519	c.7409C>G	c.(7408-7410)tCc>tGc	p.S2470C	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2465C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2465					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGAAGACATGGATTTAACAAA	0.393000													77	109					0	0	0.014410	0	0
AP3D1	8943	broad.mit.edu	37	19	2114270	2114270	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:2114270G>C	ENST00000355272.6	-	22	2661	c.2455C>G	c.(2455-2457)Cag>Gag	p.Q819E	AP3D1_ENST00000345016.5_Missense_Mutation_p.Q819E|AP3D1_ENST00000350812.6_Missense_Mutation_p.Q650E|AP3D1_ENST00000356926.4_Missense_Mutation_p.Q728E	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	819					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CTGTGTTTCTGAATAGGCAGT	0.517000													7	16					0	0	0.001984	0	0
CDK15	65061	broad.mit.edu	37	2	202698646	202698646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:202698646C>T	ENST00000450471.2	+	7	768	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	CDK15_ENST00000374598.4_Nonsense_Mutation_p.Q228*|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Nonsense_Mutation_p.Q228*|CDK15_ENST00000260967.2_Nonsense_Mutation_p.Q177*|CDK15_ENST00000410091.3_Nonsense_Mutation_p.Q177*	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	228	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CCTGAAACCTCAGAACTTACT	0.488000													31	46					0	0	0.010818	0	0
VNN1	8876	broad.mit.edu	37	6	133004432	133004432	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:133004432C>T	ENST00000367928.4	-	7	1402	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	463					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ATGTTGGCTTCAGACTAAACA	0.413000													6	24					0	0	0.001168	0	0
YEATS2	55689	broad.mit.edu	37	3	183493817	183493817	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:183493817G>A	ENST00000305135.5	+	18	2678	c.2483G>A	c.(2482-2484)gGa>gAa	p.G828E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ggaggaggaggaacagcagga	0.612000													16	30					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21229785	21229785	+	Missense_Mutation	SNP	C	C	T	rs1042021		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:21229785C>T	ENST00000233242.1	-	26	10082	c.9955G>A	c.(9955-9957)Gat>Aat	p.D3319N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3319			D -> H.		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTTGAAATCTGGAAGAGAA	0.408000													14	116					0	0	0.001855	0	0
SRRM3	222183	broad.mit.edu	37	7	75896653	75896653	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:75896653C>T	ENST00000388802.4	+	11	1117	c.908C>T	c.(907-909)tCg>tTg	p.S303L	SRRM3_ENST00000464752.1_3'UTR|SRRM3_ENST00000326382.8_Missense_Mutation_p.S303L					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CCTTCCCCGTCGGGCGGCAGC	0.756000													4	3					0	0	0.000602	0	0
ADCY5	111	broad.mit.edu	37	3	123071362	123071362	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:123071362C>G	ENST00000462833.1	-	2	2413	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	ADCY5_ENST00000309879.5_Missense_Mutation_p.E51Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.E34Q|ADCY5_ENST00000470367.1_5'UTR	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	401					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGGAGACCTCAGCCGGATAG	0.602000													8	64					0	0	0.008291	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713502	222713502	+	Missense_Mutation	SNP	G	G	A	rs141478102	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:222713502G>A	ENST00000343410.6	-	4	1358	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	434			R -> L (in dbSNP:rs3748663).		carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGCCCTGGCGCGTGATGGGG	0.567000													20	49					0	0	0.007413	0	0
LRRC52	440699	broad.mit.edu	37	1	165533028	165533028	+	Silent	SNP	G	G	A	rs148593286	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:165533028G>A	ENST00000294818.1	+	2	1199	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	303						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAACCCAGACGAGCTCGGTCC	0.567000													10	51					0	0	0.008291	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012155	51012155	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:51012155C>G	ENST00000261854.5	-	14	1744	c.1470G>C	c.(1468-1470)tgG>tgC	p.W490C		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	490						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TGTTACCTTTCCAGAACTTTT	0.403000													16	57					0	0	0.004007	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322940	4322940	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:4322940C>T	ENST00000337872.4	+	8	2316	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	ZBTB49_ENST00000355834.3_Missense_Mutation_p.S610F|ZBTB49_ENST00000538529.1_Missense_Mutation_p.S215F	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGTCGAGCATCTTCCACCACT	0.572000													11	21					0	0	0.003163	0	0
RBM10	8241	broad.mit.edu	37	X	47045541	47045541	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:47045541G>A	ENST00000377604.3	+	22	3250	c.2508G>A	c.(2506-2508)agG>agA	p.R836R	RBM10_ENST00000345781.6_Silent_p.R759R|RBM10_ENST00000329236.7_Silent_p.R758R	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	836					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCAAGAGGAGGAAGTACGGCG	0.612000													4	28					0	0	0.009096	0	0
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:155247568C>T	ENST00000368358.3	+	1	195	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622000													6	7					0	0	0.001168	0	0
BAGE2	85319	broad.mit.edu	37	21	11047503	11047503	+	RNA	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:11047503G>C	ENST00000470054.1	-	0	751									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)		GCCGTTGGTTGGTACAGATTT	0.343000													17	252					0	0	0.007413	0	0
IGHA1	3493	broad.mit.edu	37	14	106173580	106173580	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:106173580G>A	ENST00000390547.2	-	0	986																											CCAAGCGGTCGATGGTCTTCT	0.642000													8	38					0	0	0.003080	0	0
WDR34	89891	broad.mit.edu	37	9	131396190	131396190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:131396190C>A	ENST00000372715.2	-	9	1504	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	482						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACAGGGCTTTCATCCTGGGTT	0.532000													16	68					3.35478e-16	3.76321e-16	0.003163	1	0
AS3MT	57412	broad.mit.edu	37	10	104632980	104632980	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:104632980G>C	ENST00000369880.3	+	5	525	c.448G>C	c.(448-450)Gat>Cat	p.D150H	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	150					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		TGAGAGCCATGATATTGTTGT	0.363000													23	55					0	0	0.005443	0	0
CEP250	11190	broad.mit.edu	37	20	34054005	34054005	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:34054005G>A	ENST00000397527.1	+	7	1188	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CEP250_ENST00000397524.1_Silent_p.E156E|CEP250_ENST00000342580.4_Silent_p.E156E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	156					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGAGGAAGGAGAGCCAGTGGC	0.537000													12	15					0	0	0.010729	0	0
ACD	65057	broad.mit.edu	37	16	67694193	67694193	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:67694193C>G	ENST00000219251.8	-	1	520	c.189G>C	c.(187-189)ccG>ccC	p.P63P	ACD_ENST00000393919.4_Silent_p.P63P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	63					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCCTTTCCTCGGAAGAGGAA	0.741000													6	97					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179472971	179472971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179472971C>A	ENST00000589042.1	-	275	52863	c.52639G>T	c.(52639-52641)Gaa>Taa	p.E17547*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E8674*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E15906*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E8607*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E8482*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14979*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15906	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCATTTTCAGCACATACT	0.428000													6	6					3.59834e-05	3.88186e-05	0.001168	1	0
CA9	768	broad.mit.edu	37	9	35679230	35679230	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:35679230C>G	ENST00000378357.4	+	7	1060	c.956C>G	c.(955-957)tCt>tGt	p.S319C	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	319	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTGCCCTCTGACTTCAGC	0.532000													37	190					0	0	0.005524	0	0
NUTM1	256646	broad.mit.edu	37	15	34647751	34647751	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:34647751C>T	ENST00000537011.1	+	8	1924	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	NUTM1_ENST00000438749.3_Silent_p.F504F|NUTM1_ENST00000333756.4_Silent_p.F486F	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CTCCAAGTTTCAGTGGCGCTC	0.557000													14	57					0	0	0.002450	0	0
CD163L1	283316	broad.mit.edu	37	12	7519883	7519883	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:7519883C>T	ENST00000313599.3	-	18	4285	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1410K(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATCTCATGGAATAAA	0.488000													9	19					0	0	0.004482	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917543	144917543	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:144917543C>G	ENST00000529945.1	-	8	2489	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E521Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E658Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E521Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E521Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E521Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E587Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E658Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E308Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E684Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	521					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCAGTCTCTCTAAGTCATGA	0.473000			T	PDGFRB	MPD								35	253					0	0	0.013726	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017655	161017655	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:161017655G>C	ENST00000368013.3	-	12	3476	c.3156C>G	c.(3154-3156)ctC>ctG	p.L1052L	ARHGAP30_ENST00000368016.3_Silent_p.L841L|ARHGAP30_ENST00000368015.1_Silent_p.L875L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1052					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTCAGATGGGAGCTCCAGGC	0.597000													21	35					0	0	0.008871	0	0
ATRX	546	broad.mit.edu	37	X	76937123	76937123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:76937123C>A	ENST00000373344.5	-	9	3839	c.3625G>T	c.(3625-3627)Gaa>Taa	p.E1209*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1171*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1209					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCATCATCTTCTATATCAGAA	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						29	109					3.80469e-20	4.2876e-20	0.009535	1	0
OR1L4	254973	broad.mit.edu	37	9	125486868	125486868	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:125486868G>A	ENST00000259466.1	+	1	600	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGATGGTGGTGATGACTGAGA	0.512000													35	243					0	0	0.014410	0	0
SF3B3	23450	broad.mit.edu	37	16	70590867	70590867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:70590867G>A	ENST00000302516.5	+	15	2156	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	649					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGTGGGACTGAGAAGCAGGA	0.517000													9	194					0	0	0.006214	0	0
LHX6	26468	broad.mit.edu	37	9	124979462	124979462	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:124979462G>A	ENST00000394319.4	-	5	671	c.567C>T	c.(565-567)ttC>ttT	p.F189F	LHX6_ENST00000340587.3_Silent_p.F189F|LHX6_ENST00000541397.2_Silent_p.F178F|LHX6_ENST00000373754.2_Silent_p.F160F|LHX6_ENST00000373755.2_Silent_p.F160F|LHX6_ENST00000559895.1_5'UTR	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	160	Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GCTTGCACGAGAAGCAGGCGA	0.632000													17	40					0	0	0.006122	0	0
THOC2	57187	broad.mit.edu	37	X	122772797	122772797	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:122772797C>T	ENST00000245838.8	-	17	1859	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	THOC2_ENST00000355725.4_Missense_Mutation_p.D610N|THOC2_ENST00000491737.1_Missense_Mutation_p.D495N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	610					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCAAGACATCATAATTCAGT	0.299000													56	101					0	0	0.014410	0	0
B4GALNT3	283358	broad.mit.edu	37	12	644426	644426	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:644426G>A	ENST00000266383.5	+	2	277	c.264G>A	c.(262-264)ctG>ctA	p.L88L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	88						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAGAGGCTGAGCCTCGAGG	0.582000													11	8					0	0	0.008291	0	0
PGM3	5238	broad.mit.edu	37	6	83891635	83891635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:83891635C>T	ENST00000513973.1	-	6	723	c.607G>A	c.(607-609)Gat>Aat	p.D203N	PGM3_ENST00000506587.1_Missense_Mutation_p.D231N|PGM3_ENST00000512866.1_Missense_Mutation_p.D203N|PGM3_ENST00000283977.4_Missense_Mutation_p.D122N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	203					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTGTATTCATCTCCACTGCAA	0.378000													9	17					0	0	0.010729	0	0
HFM1	164045	broad.mit.edu	37	1	91740361	91740361	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:91740361C>G	ENST00000370425.3	-	33	3692	c.3594G>C	c.(3592-3594)caG>caC	p.Q1198H	HFM1_ENST00000370424.3_Missense_Mutation_p.Q877H|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Q430H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1198							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTATTCATCTGTATCTATT	0.308000													6	17					0	0	0.001168	0	0
AAAS	8086	broad.mit.edu	37	12	53714432	53714432	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:53714432C>G	ENST00000209873.4	-	2	333	c.168G>C	c.(166-168)aaG>aaC	p.K56N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.K56N|AAAS_ENST00000550286.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	56					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TTCCAGGGGTCTTTAGGGGAT	0.483000													15	63					0	0	0.006122	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31845448	31845448	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31845448C>T	ENST00000397525.1	-	12	1877	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E207K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E377K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E552K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E528K	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	552						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTGTAGGCTCCAAGCTCCCC	0.507000													58	29					0	0	0.014410	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73954226	73954226	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:73954226G>C	ENST00000476977.1	+	14	3237	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E516Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E548Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E516Q			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	516						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCAACCTCTGAGGAAATGAC	0.562000													4	16					0	0	0.000602	0	0
NFS1	9054	broad.mit.edu	37	20	34262346	34262346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:34262346G>C	ENST00000541176.2	-	2	40	c.41C>G	c.(40-42)tCa>tGa	p.S14*	NFS1_ENST00000540053.1_Missense_Mutation_p.I152M|NFS1_ENST00000374092.4_Missense_Mutation_p.I354M|NFS1_ENST00000374085.1_Missense_Mutation_p.I294M|NFS1_ENST00000397425.1_Missense_Mutation_p.I294M|NFS1_ENST00000541387.1_Missense_Mutation_p.I303M						0																	AGGAGAGGTTGATACAGCCTG	0.512000													58	83					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:139255187C>G	ENST00000395297.1	-	7	837	c.667G>C	c.(667-669)Gag>Cag	p.E223Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	223								p.E223K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCCTTACCTCTGAGGAAGTC	0.463000										HNSCC(54;0.14)			3	23					0	0	0.004672	0	0
FBXO42	54455	broad.mit.edu	37	1	16632383	16632383	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16632383C>T	ENST00000375592.3	-	3	498	c.282G>A	c.(280-282)atG>atA	p.M94I	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	94										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGACAGCCTTCATGAAACCAT	0.438000													13	78					0	0	0.001855	0	0
CDH7	1005	broad.mit.edu	37	18	63547805	63547805	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:63547805G>A	ENST00000397968.2	+	12	2459	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R678Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	678					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AACGTCATCCGAGACACCAAG	0.473000													10	45					0	0	0.013537	0	0
ZNF569	148266	broad.mit.edu	37	19	37903715	37903715	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:37903715G>A	ENST00000316950.6	-	6	2402	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	ZNF569_ENST00000392150.2_Silent_p.F456F|ZNF569_ENST00000392149.2_Silent_p.F615F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTTTGGGAGAAGGCTTTTC	0.413000													27	82					0	0	0.003954	0	0
UBN1	29855	broad.mit.edu	37	16	4922908	4922908	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:4922908G>A	ENST00000396658.4	+	12	2433	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	UBN1_ENST00000590769.1_Missense_Mutation_p.R577Q|UBN1_ENST00000545171.1_Missense_Mutation_p.R577Q|UBN1_ENST00000262376.6_Missense_Mutation_p.R577Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	577					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAGCAGACGAGGCCATGGG	0.468000													10	41					0	0	0.006214	0	0
HELZ2	85441	broad.mit.edu	37	20	62198958	62198958	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:62198958C>T	ENST00000467148.1	-	6	1822	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E16K	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGGAAATACTCCCGGATGTAG	0.652000													3	4					0	0	0.004672	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43661301	43661301	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:43661301C>T	ENST00000396976.2	-	2	477	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.E115K|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E114K|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.E114K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	115					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGCGCACTTCCTGCCCCTTC	0.502000													8	55					0	0	0.006214	0	0
CNTN5	53942	broad.mit.edu	37	11	100095523	100095523	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:100095523G>A	ENST00000524871.1	+	16	2274	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.E662K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E662K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E662K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E588K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	662					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTGTCAGATGAGGCAGAACT	0.433000													4	21					0	0	0.000602	0	0
SCAMP3	10067	broad.mit.edu	37	1	155231482	155231482	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:155231482G>C	ENST00000302631.3	-	2	217	c.110C>G	c.(109-111)aCg>aGg	p.T37R	SCAMP3_ENST00000355379.3_Intron	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	37					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACGTCAAGCGTGGCATACTG	0.587000													14	95					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92577710	92577710	+	Missense_Mutation	SNP	G	G	C	rs115557339	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:92577710G>C	ENST00000298047.6	+	18	11194	c.11177G>C	c.(11176-11178)aGa>aCa	p.R3726T	FAT3_ENST00000409404.2_Missense_Mutation_p.R3726T|FAT3_ENST00000533797.1_Missense_Mutation_p.R61T|FAT3_ENST00000525166.1_Missense_Mutation_p.R3576T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3726					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAATGCTAGAAGACACCTG	0.532000										TCGA Ovarian(4;0.039)			8	13					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717278	142717278	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:142717278C>T	ENST00000381779.4	-	2	1872	c.1647G>A	c.(1645-1647)ttG>ttA	p.L549L	SLITRK4_ENST00000356928.1_Silent_p.L549L|SLITRK4_ENST00000338017.4_Silent_p.L549L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	549	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCGTCGCTCAACTTCTCCA	0.448000													61	82					0	0	0.014410	0	0
FSIP2	401024	broad.mit.edu	37	2	186673558	186673558	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:186673558G>C	ENST00000343098.5	+	17	19792	c.19792G>C	c.(19792-19794)Gat>Cat	p.D6598H	FSIP2_ENST00000424728.1_Missense_Mutation_p.D6509H	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAAAAGTTAGATCAAAATTT	0.328000													12	39					0	0	0.013537	0	0
MAP3K15	389840	broad.mit.edu	37	X	19387308	19387308	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:19387308C>T	ENST00000338883.4	-	25	3429	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.E579K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E976K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1144							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCTTCAGTCTCACAGGTAGGC	0.607000													5	114					0	0	0.000602	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589724	11589724	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:11589724C>A	ENST00000294484.6	+	14	3048	c.2910C>A	c.(2908-2910)ttC>ttA	p.F970L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.F970L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	970					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGGCTTCTTCTTCGTGCCTA	0.637000													5	30					0.00116845	0.00124674	0.001168	1	0
GEN1	348654	broad.mit.edu	37	2	17955618	17955618	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:17955618G>A	ENST00000381254.2	+	11	1366	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	GEN1_ENST00000317402.7_Missense_Mutation_p.M384I|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	384					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTATGACATGATAGAAAGAA	0.333000								Homologous recombination					61	56					0	0	0.014410	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675389	31675389	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:31675389G>A	ENST00000503322.1	+	2	210	c.207G>A	c.(205-207)agG>agA	p.R69R	LY6G6F_ENST00000375832.4_Silent_p.R69R|LY6G6F_ENST00000556581.1_Silent_p.R69R|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							AAGTGGGCAGGCCAGCCCCAG	0.587000													3	10					0	0	0.004672	0	0
OGFR	11054	broad.mit.edu	37	20	61441893	61441893	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:61441893G>A	ENST00000370461.1	+	3	2562	c.285G>A	c.(283-285)aaG>aaA	p.K95K	OGFR_ENST00000290291.6_Silent_p.K147K			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	147					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGCATGCCAAGCCCCTCACGC	0.632000													15	44					0	0	0.002450	0	0
LINC00922	283867	broad.mit.edu	37	16	65397159	65397159	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:65397159G>A	ENST00000569736.1	-	0	521				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						AGAGAATGCTGATGGTAAAAA	0.428000													31	10					0	0	0.010818	0	0
BSN	8927	broad.mit.edu	37	3	49691051	49691051	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:49691051C>G	ENST00000296452.4	+	5	4176	c.4062C>G	c.(4060-4062)ctC>ctG	p.L1354L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1354					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGACCCCCTCAAGCTGCACA	0.617000													21	81					0	0	0.002780	0	0
GBP6	163351	broad.mit.edu	37	1	89834216	89834216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:89834216C>T	ENST00000370456.4	+	2	199	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	36							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAAGATTTCTCAGCCAGTGGT	0.473000													11	46					0	0	0.010729	0	0
ZNF830	91603	broad.mit.edu	37	17	33289264	33289264	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:33289264G>A	ENST00000361952.3	+	1	716	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	227					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AGGGTCAATTGAGAAAGCAGA	0.453000													5	33					0	0	0.001168	0	0
OR6M1	390261	broad.mit.edu	37	11	123676162	123676162	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:123676162C>T	ENST00000309154.2	-	1	933	c.896G>A	c.(895-897)aGa>aAa	p.R299K		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CACTGTCTCTCTCAACACTTC	0.383000													21	57					0	0	0.003330	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385590	7385590	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:7385590G>A	ENST00000412468.2	+	2	402	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	96	DUF6 1.					integral to membrane											CCCCTTCTGGGACCTCCTGAC	0.607000													43	167					0	0	0.011902	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507305	98507305	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:98507305C>G	ENST00000265261.6	+	8	822	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.Q252E|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.Q252E	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	252					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TCCCAAAAATCAGGTATGTAT	0.388000													29	42					0	0	0.008361	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339509	73339509	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:73339509C>T	ENST00000258098.6	-	1	637	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	133					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCGAAGACCTCGTCCAGCGCC	0.711000													10	16					0	0	0.013537	0	0
NOP14	8602	broad.mit.edu	37	4	2948193	2948193	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:2948193C>G	ENST00000416614.2	-	11	1646	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E527D|NOP14_ENST00000314262.6_Missense_Mutation_p.E527D|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E527D			P78316	NOP14_HUMAN	NOP14 nucleolar protein	527					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTCTTCCATCTCATGCATCG	0.473000													35	31					0	0	0.003271	0	0
RNLS	55328	broad.mit.edu	37	10	90342933	90342933	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:90342933C>G	ENST00000371947.3	-	1	1354	c.15G>C	c.(13-15)ctG>ctC	p.L5L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L5L|RNLS_ENST00000331772.4_Silent_p.L5L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	5						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CGCCCACGATCAGCACCTGCG	0.677000											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	21					0	0	0.003330	0	0
KDM4C	23081	broad.mit.edu	37	9	7011859	7011859	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:7011859C>T	ENST00000381309.3	+	13	2513	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	KDM4C_ENST00000536108.1_Silent_p.L469L|KDM4C_ENST00000535193.1_Silent_p.L672L|KDM4C_ENST00000381306.3_Silent_p.L650L|KDM4C_ENST00000543771.1_Silent_p.L650L|KDM4C_ENST00000442236.2_Silent_p.L395L|KDM4C_ENST00000428870.2_Silent_p.L337L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	650					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CATCTGCACTCTGCTCATGCC	0.498000													5	17					0	0	0.001168	0	0
UBR3	130507	broad.mit.edu	37	2	170936339	170936339	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:170936339G>C	ENST00000272793.5	+	37	5265	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	UBR3_ENST00000392631.1_Missense_Mutation_p.E560Q|UBR3_ENST00000418381.1_Missense_Mutation_p.E1739Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1739					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GCTTATCCAAGAGTCAAAATG	0.308000													20	27					0	0	0.007413	0	0
PCNX	22990	broad.mit.edu	37	14	71524278	71524278	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:71524278C>T	ENST00000304743.2	+	26	5135	c.4689C>T	c.(4687-4689)tcC>tcT	p.S1563S	PCNX_ENST00000439984.3_Silent_p.S1452S|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1563						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAACTAGATCCCTACAGCACA	0.383000													5	217					0	0	0.000602	0	0
PCSK1	5122	broad.mit.edu	37	5	95733093	95733093	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:95733093G>A	ENST00000311106.3	-	12	1906	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	PCSK1_ENST00000508626.1_Missense_Mutation_p.H510Y|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	557					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCATGTGTGAACAGACATG	0.393000													9	24					0	0	0.004482	0	0
NID1	4811	broad.mit.edu	37	1	236175260	236175260	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:236175260G>A	ENST00000264187.6	-	12	2570	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	830	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGATAACCAGGTTTGCACTGG	0.557000													29	34					0	0	0.009535	0	0
TAF1B	9014	broad.mit.edu	37	2	10050867	10050867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:10050867G>A	ENST00000263663.5	+	10	1146	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TAF1B_ENST00000396242.3_Missense_Mutation_p.E65K	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	320					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	p.E320K(1)		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)					TTCTTCAGATGAAATGCATAG	0.328000													33	32					0	0	0.012213	0	0
ATAD2	29028	broad.mit.edu	37	8	124408511	124408511	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:124408511G>C	ENST00000287394.5	-	1	194	c.87C>G	c.(85-87)ctC>ctG	p.L29L	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTCCAGACTGAGGAAGTCAC	0.672000													4	11					0	0	0.009096	0	0
SLC9A3	6550	broad.mit.edu	37	5	482665	482665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:482665G>A	ENST00000264938.3	-	7	1363	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	SLC9A3_ENST00000514375.1_Nonsense_Mutation_p.Q452*	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	452						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCTCACCTGGAAGATGACG	0.622000													35	67					0	0	0.005524	0	0
SH3D21	79729	broad.mit.edu	37	1	36786244	36786244	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:36786244C>G	ENST00000453908.2	+	14	2008	c.1980C>G	c.(1978-1980)atC>atG	p.I660M	SH3D21_ENST00000426732.2_Missense_Mutation_p.I544M|SH3D21_ENST00000312808.4_Missense_Mutation_p.I306M|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.I549M	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	544										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CACGTCCTATCAAGCCGCCTC	0.537000													8	56					0	0	0.004482	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309206	49309206	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:49309206C>T	ENST00000559471.1	-	10	1521	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D375N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	420										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCAGGTAAATCATCCAACTAT	0.368000													24	29					0	0	0.014323	0	0
ZNF510	22869	broad.mit.edu	37	9	99521168	99521168	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:99521168C>T	ENST00000375231.1	-	6	2594	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	ZNF510_ENST00000223428.4_Silent_p.R648R			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CACTGTGAGTCCTTTGATGTA	0.388000													26	75					0	0	0.005443	0	0
AHI1	54806	broad.mit.edu	37	6	135732643	135732643	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:135732643C>A	ENST00000367800.4	-	19	3020	c.2804G>T	c.(2803-2805)gGa>gTa	p.G935V	AHI1_ENST00000327035.6_Missense_Mutation_p.G935V|AHI1_ENST00000417892.2_Missense_Mutation_p.G289V|AHI1_ENST00000457866.2_Missense_Mutation_p.G935V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	935						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGAAATGTTCCATTGTAGCG	0.393000													17	19					6.94344e-10	7.66552e-10	0.006122	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3674888	3674888	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:3674888G>A	ENST00000344754.4	-	12	3235	c.3236C>T	c.(3235-3237)tCa>tTa	p.S1079L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1079L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1079	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAAGTCAGCTGAGGCCGAGGC	0.577000													53	40					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141708410	141708410	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:141708410C>G	ENST00000475668.2	+	3	286	c.232C>G	c.(232-234)Cct>Gct	p.P78A	MGAM_ENST00000549489.2_Missense_Mutation_p.P78A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	78	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCCCAGATCCTGGAACAAC	0.512000													11	35					0	0	0.008291	0	0
MALT1	10892	broad.mit.edu	37	18	56363632	56363632	+	Silent	SNP	A	A	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:56363632A>C	ENST00000348428.3	+	3	669	c.411A>C	c.(409-411)gcA>gcC	p.A137A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.A137A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	137	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGTCAAAGGCAGTCTTGGCTG	0.318000			T	BIRC3	MALT								6	22					0	0	0.001168	0	0
HECTD4	283450	broad.mit.edu	37	12	112674837	112674837	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:112674837G>C	ENST00000550722.1	-	35	5313	c.4918C>G	c.(4918-4920)Ctt>Gtt	p.L1640V	HECTD4_ENST00000377560.5_Missense_Mutation_p.L1614V|HECTD4_ENST00000430131.2_Missense_Mutation_p.L1364V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTCGGGCAAGATGGTTAGTG	0.532000													3	4					0	0	0.009096	0	0
ZNF526	116115	broad.mit.edu	37	19	42729049	42729049	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:42729049C>T	ENST00000301215.3	+	3	719	c.494C>T	c.(493-495)tCt>tTt	p.S165F		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CAGCACCTTTCTGCTACGGTA	0.602000													46	62					0	0	0.013114	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115536	47115536	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:47115536C>G	ENST00000290341.3	+	6	742	c.408C>G	c.(406-408)atC>atG	p.I136M	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	136	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGAGCCATCATGAAGCTGA	0.532000													13	61					0	0	0.002450	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293112	119293112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:119293112G>T	ENST00000371388.3	+	2	461	c.271G>T	c.(271-273)Gaa>Taa	p.E91*		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	91						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CCACCTATGGGAAGGAGACCT	0.612000													39	112					2.47872e-24	2.79979e-24	0.010771	1	0
ZNF438	220929	broad.mit.edu	37	10	31138723	31138723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:31138723C>G	ENST00000452305.1	-	8	1144	c.581G>C	c.(580-582)aGa>aCa	p.R194T	ZNF438_ENST00000442986.1_Missense_Mutation_p.R204T|ZNF438_ENST00000361310.3_Missense_Mutation_p.R204T|ZNF438_ENST00000413025.1_Missense_Mutation_p.R204T|ZNF438_ENST00000436087.2_Missense_Mutation_p.R204T|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000444692.2_Missense_Mutation_p.R194T|ZNF438_ENST00000538351.2_Missense_Mutation_p.R155T|ZNF438_ENST00000331737.6_Missense_Mutation_p.R194T	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CACTGGTGGTCTCAAGTCCCC	0.552000													21	74					0	0	0.008871	0	0
HLCS	3141	broad.mit.edu	37	21	38269178	38269178	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:38269178G>A	ENST00000399120.1	-	7	2663	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	HLCS_ENST00000336648.4_Missense_Mutation_p.T478M|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	478					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAGACGCATCGTTGTGGGGGT	0.493000													16	40					0	0	0.004007	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384249	21384249	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:21384249C>A	ENST00000382932.2	-	3	1441	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	SLC7A4_ENST00000403586.1_Silent_p.L458L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	458					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGCTGGCTTCAGCTCCCCTG	0.637000													4	20					0.00024832	0.000266707	0.009096	1	0
MKI67	4288	broad.mit.edu	37	10	129906824	129906824	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:129906824C>G	ENST00000368654.3	-	13	3655	c.3280G>C	c.(3280-3282)Gaa>Caa	p.E1094Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E734Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1094	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCCTCTTCCTTAGGCGTT	0.498000													48	123					0	0	0.013114	0	0
OR52K2	119774	broad.mit.edu	37	11	4471346	4471346	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:4471346C>G	ENST00000325719.4	+	1	822	c.777C>G	c.(775-777)atC>atG	p.I259M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGGTCATCTCTTCAGTCA	0.517000													27	99					0	0	0.007291	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826091	22826091	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:22826091C>T	ENST00000261374.3	+	1	594	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	54						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CGGCGCGCCTCGCTGCCTCCG	0.701000													3	12					0	0	0.004672	0	0
ACAD10	80724	broad.mit.edu	37	12	112193515	112193515	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:112193515C>T	ENST00000455480.2	+	21	3275	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	ACAD10_ENST00000313698.4_Missense_Mutation_p.S1002F|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.P24S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1002							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTCGCCCCGTCCATGGCCTCC	0.512000													22	121					0	0	0.012319	0	0
AMPD1	270	broad.mit.edu	37	1	115218575	115218575	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:115218575C>G	ENST00000369538.3	-	10	1572	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	AMPD1_ENST00000353928.6_Missense_Mutation_p.E480Q|AMPD1_ENST00000520113.2_Missense_Mutation_p.E513Q	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	480					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAATATTCTCCAGCATTTTT	0.433000													26	80					0	0	0.004656	0	0
ZNF174	7727	broad.mit.edu	37	16	3452170	3452170	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:3452170G>A	ENST00000268655.4	+	1	751	c.166G>A	c.(166-168)Gag>Aag	p.E56K	ZNF174_ENST00000572544.1_Missense_Mutation_p.E56K|ZNF174_ENST00000575752.1_Missense_Mutation_p.E56K|ZNF174_ENST00000571936.1_Missense_Mutation_p.E56K|ZNF174_ENST00000344823.5_Missense_Mutation_p.E56K	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	56					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTGTTATCAAGAGGTGTCTGG	0.542000													35	138					0	0	0.013726	0	0
TSGA13	114960	broad.mit.edu	37	7	130356511	130356511	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:130356511C>T	ENST00000456951.1	-	8	1499	c.648G>A	c.(646-648)atG>atA	p.M216I	TSGA13_ENST00000356588.3_Missense_Mutation_p.M216I			Q96PP4	TSG13_HUMAN	testis specific, 13	216										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATCTTTCCTCATATCTCTCT	0.438000													34	155					0	0	0.004289	0	0
MAP4K3	8491	broad.mit.edu	37	2	39542489	39542489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:39542489C>T	ENST00000263881.3	-	13	1283	c.959G>A	c.(958-960)aGa>aAa	p.R320K	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.R257K|MAP4K3_ENST00000341681.5_Missense_Mutation_p.R320K	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	320					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTCACGTTTCTACTTGTTGA	0.313000													37	25					0	0	0.006999	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926179	111926179	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:111926179C>A	ENST00000375741.2	+	11	1405	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.F207L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.F207L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.F335L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.F207L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.F364L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.F282L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.F129L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.F292L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.F207L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	385	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGGGAGTTCATGGAGACCA	0.557000													9	64					0.000442599	0.000474329	0.006214	1	0
F8	2157	broad.mit.edu	37	X	154221360	154221360	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:154221360C>T	ENST00000360256.4	-	4	652	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	151	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTATGGCTTCCACCAGGGAA	0.433000													133	168					0	0	0.014410	0	0
PDGFD	80310	broad.mit.edu	37	11	103870789	103870789	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:103870789C>T	ENST00000302251.5	-	2	752	c.301G>A	c.(301-303)Gat>Aat	p.D101N	PDGFD_ENST00000393158.2_Missense_Mutation_p.D107N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	107	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTACAGATATCATTTTCTGCT	0.383000													13	55					0	0	0.001855	0	0
SKP1	6500	broad.mit.edu	37	5	133494205	133494205	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:133494205C>T	ENST00000353411.6	-	5	580	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SKP1_ENST00000517625.1_Missense_Mutation_p.E133K|SKP1_ENST00000522855.1_Missense_Mutation_p.E133K|SKP1_ENST00000521216.1_Missense_Mutation_p.E133K|SKP1_ENST00000522552.1_Missense_Mutation_p.E133K	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	133	Interaction with the F-box domain of F- box proteins (By similarity).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAATCTCCTCAGGAGTTTTC	0.408000													28	61					0	0	0.006320	0	0
LIN54	132660	broad.mit.edu	37	4	83905546	83905546	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:83905546G>A	ENST00000340417.3	-	2	829	c.452C>T	c.(451-453)cCa>cTa	p.P151L	LIN54_ENST00000506560.1_Missense_Mutation_p.P151L|LIN54_ENST00000395282.2_Missense_Mutation_p.P151L|LIN54_ENST00000505397.1_Missense_Mutation_p.P151L|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.P151L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	151					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TAAAACAATTGGTGAACCAGA	0.423000													20	61					0	0	0.008871	0	0
LMOD3	56203	broad.mit.edu	37	3	69168258	69168258	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:69168258C>T	ENST00000420581.2	-	2	1427	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	LMOD3_ENST00000489031.1_Silent_p.L416L|LMOD3_ENST00000475434.1_Silent_p.L416L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	416						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACATGGCTATCAGCTTCTTCT	0.507000													13	59					0	0	0.013537	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394878	233394878	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:233394878C>T	ENST00000258229.9	-	5	964	c.730G>A	c.(730-732)Gag>Aag	p.E244K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGCCACCCTCGGATCTGTGG	0.498000													13	65					0	0	0.001855	0	0
KIF21B	23046	broad.mit.edu	37	1	200971448	200971448	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:200971448C>T	ENST00000332129.2	-	9	1559	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	KIF21B_ENST00000461742.2_Missense_Mutation_p.E415K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E415K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E415K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	415					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTATAGCCCTCAGCGCCATCC	0.607000													21	45					0	0	0.014323	0	0
MCM2	4171	broad.mit.edu	37	3	127325142	127325142	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:127325142C>T	ENST00000265056.7	+	5	1099	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	285					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ATGTCCGCATCTCCCACCTGC	0.622000													31	172					0	0	0.009535	0	0
SRSF2	6427	broad.mit.edu	37	17	74732266	74732266	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:74732266C>T	ENST00000392485.2	-	2	815	c.643G>A	c.(643-645)Gag>Aag	p.E215K	MFSD11_ENST00000586622.1_Intron|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.E215K|SRSF2_ENST00000508921.3_Missense_Mutation_p.E203K	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	215	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GCTCCTTCCTCTTCAGGAGAC	0.527000			Mis		"""MDS, CLL"""								19	83					0	0	0.008871	0	0
KLRK1	22914	broad.mit.edu	37	12	10525783	10525783	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:10525783G>A	ENST00000240618.6	-	8	721	c.581C>T	c.(580-582)tCg>tTg	p.S194L	KLRK1_ENST00000540818.1_Missense_Mutation_p.S194L|KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	194	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTAAAGCTCGAGGCATAGAG	0.373000													47	30					0	0	0.014410	0	0
PRR3	80742	broad.mit.edu	37	6	30530271	30530271	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:30530271G>C	ENST00000376560.3	+	4	1025	c.566G>C	c.(565-567)tGa>tCa	p.*189S	PRR3_ENST00000376557.3_Nonstop_Mutation_p.*168S|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	0							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CCTCCTCTGTGAGACTGTGCC	0.542000													4	140					0	0	0.009096	0	0
NUP210L	91181	broad.mit.edu	37	1	153965509	153965509	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:153965509G>C	ENST00000368559.3	-	39	5619	c.5548C>G	c.(5548-5550)Cta>Gta	p.L1850V	NUP210L_ENST00000368553.1_Missense_Mutation_p.L631V|NUP210L_ENST00000271854.3_Missense_Mutation_p.L1698V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1850						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGTGTTCCTAGAGTTGGTACA	0.413000													22	41					0	0	0.014323	0	0
CCDC141	285025	broad.mit.edu	37	2	179733909	179733909	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179733909C>G	ENST00000420890.2	-	15	2446	c.2329G>C	c.(2329-2331)Gag>Cag	p.E777Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E202Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	202							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGATTCTCTCTTTCTGTTTT	0.423000													20	69					0	0	0.012319	0	0
UPF1	5976	broad.mit.edu	37	19	18956812	18956812	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:18956812G>A	ENST00000262803.5	+	2	527	c.255G>A	c.(253-255)caG>caA	p.Q85Q	UPF1_ENST00000599848.1_Silent_p.Q85Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	85	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCATCCTGCAGAACGGGGCTG	0.557000													6	20					0	0	0.001984	0	0
FAT2	2196	broad.mit.edu	37	5	150922290	150922290	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:150922290C>G	ENST00000261800.5	-	9	8410	c.8398G>C	c.(8398-8400)Gat>Cat	p.D2800H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2800	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATATGGATCAGCCTCAAAT	0.498000													25	15					0	0	0.002780	0	0
IGSF5	150084	broad.mit.edu	37	21	41137628	41137628	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:41137628C>G	ENST00000380588.4	+	3	370	c.267C>G	c.(265-267)acC>acG	p.T89T	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	89	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CCATCATCACCAATGACCGCT	0.567000													16	38					0	0	0.004990	0	0
HECTD4	283450	broad.mit.edu	37	12	112674822	112674822	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:112674822C>G	ENST00000550722.1	-	35	5328	c.4933G>C	c.(4933-4935)Gag>Cag	p.E1645Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.E1619Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E1369Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCACAGCACTCTGTGGCTCGG	0.557000													3	6					0	0	0.004672	0	0
SMG1	23049	broad.mit.edu	37	16	18826958	18826958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:18826958G>C	ENST00000446231.2	-	59	10730	c.10318C>G	c.(10318-10320)Ctg>Gtg	p.L3440V	SMG1_ENST00000389467.3_Missense_Mutation_p.L3441V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3440					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATCTGCCAGAGCAGCTTCT	0.333000													11	20					0	0	0.008291	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505507	44505507	+	Missense_Mutation	SNP	G	G	A	rs115746617	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:44505507G>A	ENST00000255152.2	+	2	519	c.310G>A	c.(310-312)Gac>Aac	p.D104N	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D98N	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	104							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CATACATGGTGACTCTAAAGT	0.488000													16	55					0	0	0.004990	0	0
OR52E2	119678	broad.mit.edu	37	11	5080583	5080583	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:5080583C>T	ENST00000321522.2	-	1	274	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATGATCCCTCTGAGGTTGAT	0.483000													3	16					0	0	0.004672	0	0
HTT	3064	broad.mit.edu	37	4	3148619	3148619	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:3148619C>A	ENST00000355072.5	+	25	3384	c.3239C>A	c.(3238-3240)cCa>cAa	p.P1080Q		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1080					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTTGGTTCCCATTGGATCTC	0.507000													70	235					1.79293e-35	2.03616e-35	0.014410	1	0
SFSWAP	6433	broad.mit.edu	37	12	132198698	132198698	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:132198698G>A	ENST00000261674.4	+	2	442	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E101K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	101					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCAGCTGTCTGAAGAGGAGGC	0.488000													5	26					0	0	0.000602	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68113704	68113704	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:68113704C>G	ENST00000262215.3	-	37	5654	c.5265G>C	c.(5263-5265)ttG>ttC	p.L1755F	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.L593F|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L1209F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1755					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGTCTTACTTCAAAAGCCTCT	0.582000													6	27					0	0	0.001984	0	0
CNTN5	53942	broad.mit.edu	37	11	100211890	100211890	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:100211890G>A	ENST00000524871.1	+	23	3273	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E995K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E995K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E921K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	995	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTGGGCTGGGAACCCGTCAT	0.443000													18	34					0	0	0.007413	0	0
ZNF480	147657	broad.mit.edu	37	19	52825486	52825486	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:52825486C>T	ENST00000595962.1	+	5	1049	c.983C>T	c.(982-984)tCa>tTa	p.S328L	ZNF480_ENST00000334564.7_Missense_Mutation_p.S285L|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.S251L|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGTCATAAGTCATCTCTAGCA	0.383000													23	26					0	0	0.014323	0	0
NLRC4	58484	broad.mit.edu	37	2	32474748	32474748	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32474748C>T	ENST00000404025.2	-	5	2673	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E729K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E729K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	729					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTGCCTCTCATCTTCTATG	0.463000													31	176					0	0	0.008361	0	0
SPHK2	56848	broad.mit.edu	37	19	49131269	49131269	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:49131269G>A	ENST00000443164.1	+	3	1590	c.885G>A	c.(883-885)ctG>ctA	p.L295L	SPHK2_ENST00000599029.1_Silent_p.L197L|SPHK2_ENST00000598088.1_Silent_p.L233L|SPHK2_ENST00000601712.1_Silent_p.L197L|SPHK2_ENST00000245222.4_Silent_p.L233L|SPHK2_ENST00000599748.1_Silent_p.L197L|SPHK2_ENST00000340932.3_Silent_p.L197L|SPHK2_ENST00000600537.1_Silent_p.L174L			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	233	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.L233L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCAGGGGCTGAGCCTGAGTG	0.662000													17	70					0	0	0.010504	0	0
COL6A3	1293	broad.mit.edu	37	2	238277471	238277471	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:238277471G>C	ENST00000295550.4	-	10	5087	c.4635C>G	c.(4633-4635)gtC>gtG	p.V1545V	COL6A3_ENST00000346358.4_Silent_p.V1345V|COL6A3_ENST00000472056.1_Silent_p.V938V|COL6A3_ENST00000347401.3_Silent_p.V1344V|COL6A3_ENST00000409809.1_Silent_p.V1339V|COL6A3_ENST00000353578.4_Silent_p.V1339V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1545	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGGACCAGGACCAGGTGTT	0.567000													19	55					0	0	0.008871	0	0
FAM41C	284593	broad.mit.edu	37	1	809528	809528	+	RNA	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:809528C>G	ENST00000446136.1	-	0	1165					NR_027055.1																						AGGAACTCTTCAAGCGTGTCT	0.522000													23	91					0	0	0.014323	0	0
DECR1	1666	broad.mit.edu	37	8	91013777	91013777	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:91013777C>T	ENST00000220764.2	+	1	145	c.57C>T	c.(55-57)ctC>ctT	p.L19L	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	19					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTGTGGCCTCGCTCCTCGGA	0.697000											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	0.001168	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059843	152059843	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:152059843C>T	ENST00000368806.1	-	3	379	c.315G>A	c.(313-315)gaG>gaA	p.E105E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	105							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATCTAGCTTCTCCTTCTCTG	0.418000													4	74					0	0	0.009096	0	0
B4GALNT4	338707	broad.mit.edu	37	11	375484	375484	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:375484G>C	ENST00000329962.6	+	9	807	c.807G>C	c.(805-807)ctG>ctC	p.L269L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	269						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCGGCCTGAAGTTCGAGG	0.657000													33	62					0	0	0.013726	0	0
LSR	51599	broad.mit.edu	37	19	35758631	35758631	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:35758631C>G	ENST00000602122.1	+	8	2335	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	LSR_ENST00000361790.3_Silent_p.L636L|LSR_ENST00000360798.3_Silent_p.L568L|LSR_ENST00000354900.3_Silent_p.L617L|LSR_ENST00000347609.4_Silent_p.L578L|LSR_ENST00000427250.1_Silent_p.L480L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	636					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCGCAGGCTCAAGAAGGTGA	0.682000													22	81					0	0	0.010504	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957839	74957839	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:74957839A>G	ENST00000370891.2	+	25	2559	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	TNNI3K_ENST00000326637.3_Missense_Mutation_p.D747G|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D861G|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTTCTTCTGATTGCCTGGTG	0.478000													5	148					0	0	0.000602	0	0
IL4R	3566	broad.mit.edu	37	16	27375102	27375102	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:27375102A>G	ENST00000395762.2	+	11	2688	c.2429A>G	c.(2428-2430)aAa>aGa	p.K810R	IL4R_ENST00000170630.2_Missense_Mutation_p.K810R|IL4R_ENST00000380922.3_Missense_Mutation_p.K795R|IL4R_ENST00000543915.2_Missense_Mutation_p.K810R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	810					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGACCCCCAAAATCGTGAAC	0.547000													43	57					0	0	0.010771	0	0
NBPF1	55672	broad.mit.edu	37	1	16893773	16893773	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16893773G>A	ENST00000430580.2	-	25	3627	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	914	NBPF 5.					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)		TAACCTGAAGGAGTTGAATAA	0.483000													18	1586					0	0	0.010729	0	0
KLHL24	54800	broad.mit.edu	37	3	183390182	183390182	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:183390182C>A	ENST00000454652.2	+	8	1898	c.1512C>A	c.(1510-1512)atC>atA	p.I504I	KLHL24_ENST00000476808.1_Silent_p.I504I|KLHL24_ENST00000242810.6_Silent_p.I504I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACAACCTGATCTATGTTGCCG	0.423000													31	45					1.61788e-16	1.81624e-16	0.012213	1	0
PPFIBP1	8496	broad.mit.edu	37	12	27817316	27817316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:27817316C>T	ENST00000318304.8	+	12	1271	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R177*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R299*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R310*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	330					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGAAGATCTTCGACAGTGCCT	0.343000													4	8					0	0	0.009096	0	0
PDHA2	5161	broad.mit.edu	37	4	96761819	96761819	+	Missense_Mutation	SNP	C	C	T	rs145511699	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:96761819C>T	ENST00000295266.4	+	1	581	c.518C>T	c.(517-519)gCt>gTt	p.A173V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	173					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCCCTGGGCGCTGGCATTGCT	0.507000													7	54					0	0	0.003080	0	0
BARX2	8538	broad.mit.edu	37	11	129246023	129246023	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:129246023C>G	ENST00000281437.4	+	1	189	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	31								p.L31L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACGAGATCCTCTCCAAGGAGA	0.597000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	91					0	0	0.010818	0	0
MSH2	4436	broad.mit.edu	37	2	47703691	47703691	+	Missense_Mutation	SNP	G	G	C	rs63749802		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:47703691G>C	ENST00000406134.1	+	13	2253	c.2191G>C	c.(2191-2193)Gaa>Caa	p.E731Q	MSH2_ENST00000233146.2_Missense_Mutation_p.E731Q|MSH2_ENST00000543555.1_Missense_Mutation_p.E665Q			P43246	MSH2_HUMAN	mutS homolog 2	731					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAATGTTGGAAACTGCTTC	0.453000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				34	22					0	0	0.003271	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782936	80782936	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:80782936C>T	ENST00000466387.1	+	16	2383	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CTNNA2_ENST00000496558.1_Silent_p.I553I|CTNNA2_ENST00000361291.4_Silent_p.I587I|CTNNA2_ENST00000540488.1_Silent_p.I553I|CTNNA2_ENST00000541047.1_Silent_p.I553I|CTNNA2_ENST00000343114.3_Silent_p.I232I|CTNNA2_ENST00000402739.4_Silent_p.I553I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	553					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						TCATACACATCATCAATGCTG	0.507000													7	65					0	0	0.001984	0	0
ATP13A2	23400	broad.mit.edu	37	1	17328814	17328814	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:17328814G>A	ENST00000452699.1	-	7	786	c.597C>T	c.(595-597)ctC>ctT	p.L199L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.L204L|ATP13A2_ENST00000341676.5_Silent_p.L199L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	204					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCTGGAGGCTGAGGCCATGGC	0.667000													6	11					0	0	0.004482	0	0
HTRA3	94031	broad.mit.edu	37	4	8284198	8284198	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:8284198C>T	ENST00000307358.2	+	2	624	c.420C>T	c.(418-420)ttC>ttT	p.F140F	HTRA3_ENST00000382512.3_Silent_p.F140F	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	140					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GCTACAAGTTCAACTTCATTG	0.607000													6	24					0	0	0.001168	0	0
ZNF728	388523	broad.mit.edu	37	19	23159333	23159333	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:23159333G>C	ENST00000594710.1	-	4	951	c.806C>G	c.(805-807)tCa>tGa	p.S269*		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AATAAGGCTTGAGGACCGGGT	0.413000													19	23					0	0	0.007413	0	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290471	155290471	+	RNA	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:155290471C>G	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA			Q66K80	RUAS1_HUMAN																			TGGTTCTGTTCTTGCTCGGCC	0.552000													3	12					0	0	0.004672	0	0
WDR77	79084	broad.mit.edu	37	1	111991710	111991710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:111991710C>A	ENST00000235090.5	-	1	288	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	WDR77_ENST00000411751.2_Nonsense_Mutation_p.E28*|ATP5F1_ENST00000369722.3_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	28					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACTGCCGTTCCATGCAGGCG	0.701000													3	1					0.00909568	0.00964893	0.009096	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													6	26					0	0	0.001984	0	0
THOP1	7064	broad.mit.edu	37	19	2790547	2790547	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:2790547G>A	ENST00000307741.6	+	2	348	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	49					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GCGCGTGTATGACCAGGTTGG	0.607000													13	44					0	0	0.013537	0	0
LALBA	3906	broad.mit.edu	37	12	48962884	48962884	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:48962884G>A	ENST00000549817.1	-	2	318	c.273C>T	c.(271-273)atC>atT	p.I91I	LALBA_ENST00000301046.2_Silent_p.I91I			P00709	LALBA_HUMAN	lactalbumin, alpha-	91					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGATGTCACAGATGTTCCTTG	0.463000													29	42					0	0	0.010818	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455664	1455664	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:1455664C>G	ENST00000378755.5	+	6	896	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q141E|ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q220E	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	268							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CGAGCACCGTCAGACCGTCTT	0.706000													7	67					0	0	0.001984	0	0
ATAD2	29028	broad.mit.edu	37	8	124408476	124408476	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:124408476G>A	ENST00000287394.5	-	1	229	c.122C>T	c.(121-123)tCg>tTg	p.S41L	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGCGCCGGCCGAGCGGAGCCG	0.716000													3	5					0	0	0.009096	0	0
PHKA2	5256	broad.mit.edu	37	X	19002045	19002045	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:19002045C>G	ENST00000379942.4	-	1	671	c.6G>C	c.(4-6)cgG>cgC	p.R2R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	2					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCTCCTGCTCCGCATCTCCC	0.701000													21	27					0	0	0.010504	0	0
ARL6IP4	51329	broad.mit.edu	37	12	123465031	123465031	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:123465031G>A	ENST00000315580.5	+	1	425	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ARL6IP4_ENST00000426960.2_Intron|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.E33K|ABCB9_ENST00000542678.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.E33K|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.E33K			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	33					RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		GGCGTGCGCCGAGAGGGCAGC	0.746000													4	3					0	0	0.009096	0	0
HEG1	57493	broad.mit.edu	37	3	124738208	124738208	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:124738208C>G	ENST00000311127.4	-	5	1553	c.1486G>C	c.(1486-1488)Gga>Cga	p.G496R	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	496	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGACTTCCTCCAGACTGTACA	0.468000													52	134					0	0	0.014410	0	0
PCSK1	5122	broad.mit.edu	37	5	95764942	95764942	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:95764942G>C	ENST00000311106.3	-	2	497	c.260C>G	c.(259-261)aCt>aGt	p.T87S	PCSK1_ENST00000508626.1_Missense_Mutation_p.T40S|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	87					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATCTCTTAGTGATATGAAA	0.323000													12	25					0	0	0.013537	0	0
TMEM51	55092	broad.mit.edu	37	1	15541733	15541733	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:15541733G>C	ENST00000428417.1	+	2	596	c.150G>C	c.(148-150)aaG>aaC	p.K50N	TMEM51_ENST00000376008.2_Missense_Mutation_p.K50N|TMEM51_ENST00000434578.2_Missense_Mutation_p.K50N|TMEM51_ENST00000376014.3_Missense_Mutation_p.K50N|TMEM51_ENST00000400796.3_Missense_Mutation_p.K50N	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	50						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCAGCAACAAGACCGAGGTGG	0.627000													36	166					0	0	0.006999	0	0
ASIC2	40	broad.mit.edu	37	17	31618696	31618696	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:31618696G>C	ENST00000225823.2	-	1	1310	c.438C>G	c.(436-438)ctC>ctG	p.L146L	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	102					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCCCCTTGGAGAGGCGCGGGA	0.701000													9	25					0	0	0.004482	0	0
NOS3	4846	broad.mit.edu	37	7	150707855	150707855	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:150707855G>A	ENST00000297494.3	+	22	3213	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	NOS3_ENST00000461406.1_Silent_p.E746E|NOS3_ENST00000477227.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	952	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ACCCAGGAGAGATCCACCTCA	0.662000													3	24					0	0	0.004672	0	0
DCHS1	8642	broad.mit.edu	37	11	6655029	6655029	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:6655029C>T	ENST00000299441.3	-	4	2620	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	737	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGATTGCTCATCCAAGGTA	0.587000													15	38					0	0	0.006122	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19489492	19489492	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:19489492A>G	ENST00000538714.1	+	18	2361	c.2357A>G	c.(2356-2358)gAt>gGt	p.D786G	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D786G|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D728G|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D647G|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D728G|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D486G|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D831G|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D659G|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D728G	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	728							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTAGAATACGATGTAACTGTT	0.333000													20	9					0	0	0.003330	0	0
C12orf66	144577	broad.mit.edu	37	12	64588269	64588269	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:64588269C>G	ENST00000311915.8	-	3	718	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	C12orf66_ENST00000544871.1_Missense_Mutation_p.E178Q|C12orf66_ENST00000398055.3_Missense_Mutation_p.E231Q			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	231										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CGCTGTTTCTCAAAGATCTGG	0.517000													21	31					0	0	0.002780	0	0
SFRP5	6425	broad.mit.edu	37	10	99529453	99529453	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:99529453G>C	ENST00000266066.3	-	2	697	c.579C>G	c.(577-579)ctC>ctG	p.L193L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	193	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TCTGCTCCATGAGGCCGTCAG	0.607000													6	10					0	0	0.001984	0	0
NTRK2	4915	broad.mit.edu	37	9	87285753	87285753	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:87285753C>T	ENST00000304053.6	+	2	573	c.90C>T	c.(88-90)ttC>ttT	p.F30F	NTRK2_ENST00000323115.4_Silent_p.F30F|NTRK2_ENST00000395882.1_Silent_p.F30F|NTRK2_ENST00000376214.1_Silent_p.F30F|NTRK2_ENST00000359847.3_Silent_p.F30F|NTRK2_ENST00000376208.1_Silent_p.F30F|NTRK2_ENST00000277120.3_Silent_p.F30F|NTRK2_ENST00000376213.1_Silent_p.F30F	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	30					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGGCCGCTTTCGCCTGTCCCA	0.617000										TSP Lung(25;0.17)			32	61					0	0	0.009535	0	0
NEK11	79858	broad.mit.edu	37	3	130887738	130887738	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:130887738C>T	ENST00000383366.4	+	13	1534	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	NEK11_ENST00000511262.1_Missense_Mutation_p.S414L|NEK11_ENST00000356918.4_Missense_Mutation_p.S414L|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.S414L|NEK11_ENST00000510688.1_Missense_Mutation_p.S414L|NEK11_ENST00000510769.1_Missense_Mutation_p.S309L|NEK11_ENST00000508196.1_Missense_Mutation_p.S414L|NEK11_ENST00000507910.1_Missense_Mutation_p.S414L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	414					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTCTTGTTCACCCCAGGAC	0.428000													5	36					0	0	0.001984	0	0
ZNF107	51427	broad.mit.edu	37	7	64167319	64167319	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:64167319G>C	ENST00000395391.1	+	4	2012	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	ZNF107_ENST00000344930.3_Missense_Mutation_p.E213Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.E213Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCATACTGGAGAAAAACCTTA	0.378000													18	26					0	0	0.007413	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559354	129559354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:129559354C>G	ENST00000422113.2	-	9	2692	c.2366G>C	c.(2365-2367)gGa>gCa	p.G789A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G327A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	789						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)		GTTTGCCGTTCCAACAGCTAA	0.478000													20	75					0	0	0.008871	0	0
IL18R1	8809	broad.mit.edu	37	2	103013002	103013002	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:103013002G>A	ENST00000409599.1	+	12	1638	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E428K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	428	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTGTTGATGAAATCCACTC	0.343000													16	22					0	0	0.004990	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299413	125299413	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:125299413G>A	ENST00000538699.1	-	2	575	c.495C>T	c.(493-495)gcC>gcT	p.A165A	DCAF12L2_ENST00000360028.2_Silent_p.A165A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	165										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCCGCCGGTGGCCAGAAGCG	0.677000													37	73					0	0	0.004289	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45525881	45525881	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:45525881C>G	ENST00000359600.5	-	3	1196	c.991G>C	c.(991-993)Gag>Cag	p.E331Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	331							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAACAGTTCTCATCGTCAATG	0.478000													5	36					0	0	0.000602	0	0
RORC	6097	broad.mit.edu	37	1	151783891	151783891	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:151783891C>A	ENST00000356728.6	-	9	1396	c.1242G>T	c.(1240-1242)gaG>gaT	p.E414D	RORC_ENST00000392697.3_Missense_Mutation_p.E489D|RORC_ENST00000318247.6_Missense_Mutation_p.E435D|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	435	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTTCCTTTTCTCTTGGAGCC	0.493000													6	31					5.9392e-07	6.48355e-07	0.001168	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33806509	33806509	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:33806509G>A	ENST00000260908.7	-	2	837	c.720C>T	c.(718-720)ctC>ctT	p.L240L	SLFN12L_ENST00000361112.4_Silent_p.L269L|SLFN12L_ENST00000449046.1_Silent_p.L271L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	272						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATATTGAGGGAGAATCTCTG	0.323000													16	28					0	0	0.007413	0	0
GTPBP6	8225	broad.mit.edu	37	X	224512	224512	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:224512G>A	ENST00000326153.4	-	4	473	c.474C>T	c.(472-474)ccC>ccT	p.P158P				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	387						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTCCGCCTCGGGGTGGCTGA	0.657000													3	9					0	0	0.009096	0	0
CCDC39	339829	broad.mit.edu	37	3	180366143	180366143	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:180366143A>G	ENST00000273654.4	-	16	2043	c.1424T>C	c.(1423-1425)gTa>gCa	p.V475A	CCDC39_ENST00000442201.2_Missense_Mutation_p.V391A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	391					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGAACATCTACTTCCTGATA	0.274000													19	103					0	0	0.007413	0	0
ZNF761	388561	broad.mit.edu	37	19	53958118	53958118	+	RNA	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53958118G>C	ENST00000454407.1	+	0	810							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCAAAAAGTTGACAGGTATTA	0.373000													26	74					0	0	0.003954	0	0
ELF3	1999	broad.mit.edu	37	1	201981202	201981202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:201981202G>C	ENST00000359651.3	+	2	3473	c.281G>C	c.(280-282)cGa>cCa	p.R94P	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R94P|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.R94P			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	94	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GACTTCTCACGATGTGACATG	0.582000													49	65					0	0	0.014410	0	0
MFSD8	256471	broad.mit.edu	37	4	128841828	128841828	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:128841828C>G	ENST00000296468.3	-	13	1641	c.1514G>C	c.(1513-1515)aGa>aCa	p.R505T	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.R460T	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	505					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGCAATGAGTCTTTTGTAAAC	0.468000													33	27					0	0	0.013726	0	0
PAFAH2	5051	broad.mit.edu	37	1	26316014	26316014	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:26316014C>G	ENST00000374282.3	-	3	348	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	PAFAH2_ENST00000374284.1_Missense_Mutation_p.E57Q|PAFAH2_ENST00000493892.1_Intron	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	57					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)		GTGCAGTACTCATAGCGGGGA	0.582000													18	20					0	0	0.004990	0	0
MUSK	4593	broad.mit.edu	37	9	113538093	113538093	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:113538093C>G	ENST00000416899.2	+	9	1336	c.1210C>G	c.(1210-1212)Ctc>Gtc	p.L404V	MUSK_ENST00000374448.4_Missense_Mutation_p.L404V|MUSK_ENST00000374438.1_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.L404V			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	404	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTAAAGGAGCTCTTCTGCGC	0.428000													28	46					0	0	0.006320	0	0
CPQ	10404	broad.mit.edu	37	8	97892096	97892096	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:97892096G>C	ENST00000220763.5	+	4	922	c.712G>C	c.(712-714)Gat>Cat	p.D238H		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	238					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TACGGTGGAAGATGCAGAAAT	0.463000													31	91					0	0	0.012213	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16837796	16837796	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:16837796C>T	ENST00000355661.3	-	12	1892	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D628N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D628N|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	628	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GAGCGTCGGTCCACATGAGAT	0.562000													7	30					0	0	0.001984	0	0
FKBP15	23307	broad.mit.edu	37	9	115930782	115930782	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:115930782C>G	ENST00000238256.3	-	27	3657	c.3540G>C	c.(3538-3540)ctG>ctC	p.L1180L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1180					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTTGGGCCTCAGAGCTTTCA	0.502000													4	27					0	0	0.009096	0	0
LMX1B	4010	broad.mit.edu	37	9	129377731	129377731	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:129377731G>C	ENST00000355497.5	+	2	216	c.209G>C	c.(208-210)cGa>cCa	p.R70P	LMX1B_ENST00000425646.2_Missense_Mutation_p.R47P|LMX1B_ENST00000526117.1_Missense_Mutation_p.R70P|LMX1B_ENST00000561065.1_Missense_Mutation_p.R47P|LMX1B_ENST00000373474.4_Missense_Mutation_p.R70P	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	47	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TTCCTGATGCGAGTCAACGAG	0.662000									Nail-Patella Syndrome				3	18					0	0	0.004672	0	0
COMMD2	51122	broad.mit.edu	37	3	149470213	149470213	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:149470213C>T	ENST00000473414.1	-	1	73	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	7							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATGCTCCTCGGACAATTCC	0.657000													15	14					0	0	0.002450	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580509	50580509	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:50580509G>A	ENST00000262794.5	+	16	2153		c.e16-1		MOV10L1_ENST00000395843.1_Splice_Site|MOV10L1_ENST00000545383.1_Splice_Site|MOV10L1_ENST00000395858.3_Splice_Site|MOV10L1_ENST00000540615.1_Splice_Site	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAATTTCTAGAATAGGAAAA	0.428000													25	16					0	0	0.002780	0	0
GZF1	64412	broad.mit.edu	37	20	23345885	23345885	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:23345885G>C	ENST00000338121.5	+	2	942	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.E289Q|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	289					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCTGAGTTGGAGGAATTGTC	0.562000													6	61					0	0	0.001168	0	0
FBXW10	10517	broad.mit.edu	37	17	18653133	18653133	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:18653133C>G	ENST00000308799.4	+	3	988	c.769C>G	c.(769-771)Cta>Gta	p.L257V	FBXW10_ENST00000395665.4_Missense_Mutation_p.L257V|FBXW10_ENST00000301938.4_Missense_Mutation_p.L257V|FBXW10_ENST00000395667.1_Missense_Mutation_p.L257V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	257										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCTGCAATCTATTGGTTGA	0.473000													17	87					0	0	0.008871	0	0
RPRD1B	58490	broad.mit.edu	37	20	36662388	36662388	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:36662388C>T	ENST00000373433.4	+	1	441	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	13	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGAAGAAGCTCTCGGAGCTGA	0.677000													10	55					0	0	0.006214	0	0
RMI1	80010	broad.mit.edu	37	9	86616344	86616344	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:86616344G>A	ENST00000325875.3	+	3	775	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	148					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CAAATACAGGGAATGGAATAT	0.393000													8	48					0	0	0.003080	0	0
SIM1	6492	broad.mit.edu	37	6	100868708	100868708	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:100868708G>C	ENST00000369208.3	-	10	1907	c.1125C>G	c.(1123-1125)ctC>ctG	p.L375L	SIM1_ENST00000262901.4_Silent_p.L375L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	375	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGAGCTGGAGAGCCGGGATT	0.498000													11	16					0	0	0.013537	0	0
ZNF85	7639	broad.mit.edu	37	19	21131623	21131623	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:21131623G>C	ENST00000601023.1	+	2	772	c.126G>C	c.(124-126)ctG>ctC	p.L42L	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Silent_p.L101L|ZNF85_ENST00000345030.6_Silent_p.L68L			Q03923	ZNF85_HUMAN	zinc finger protein 85	101	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGTGACACTGAAAAGATATG	0.343000													17	45					0	0	0.004007	0	0
RBBP8	5932	broad.mit.edu	37	18	20573069	20573069	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:20573069G>C	ENST00000399722.2	+	11	1630	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	RBBP8_ENST00000327155.5_Missense_Mutation_p.D427H|RBBP8_ENST00000399725.2_Missense_Mutation_p.D427H|RBBP8_ENST00000360790.5_Missense_Mutation_p.D427H	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	427					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GTACGGTAAAGATTCTAACAC	0.363000								Homologous recombination					26	21					0	0	0.004656	0	0
LRRC2	79442	broad.mit.edu	37	3	46586733	46586733	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:46586733C>G	ENST00000395905.3	-	3	528	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Missense_Mutation_p.E46Q	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	46										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AAGTTCCACTCCTCCTTTATC	0.552000													3	31					0	0	0.004672	0	0
DMWD	1762	broad.mit.edu	37	19	46289404	46289404	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:46289404G>C	ENST00000270223.6	-	3	1395	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	DMWD_ENST00000377735.3_Silent_p.L450L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	450					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGTGCGGGTAGAGCACGTCTT	0.701000													5	5					0	0	0.000602	0	0
OPTN	10133	broad.mit.edu	37	10	13164482	13164482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:13164482G>A	ENST00000378748.3	+	9	1239	c.877G>A	c.(877-879)Gag>Aag	p.E293K	OPTN_ENST00000378747.3_Missense_Mutation_p.E293K|OPTN_ENST00000263036.5_Missense_Mutation_p.E293K|OPTN_ENST00000378752.3_Missense_Mutation_p.E287K|OPTN_ENST00000378764.2_Missense_Mutation_p.E287K|OPTN_ENST00000378757.2_Missense_Mutation_p.E293K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	293					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAAAGGCCCGGAGACTGTGAG	0.448000													14	34					0	0	0.003163	0	0
TCF4	6925	broad.mit.edu	37	18	52899786	52899786	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:52899786C>G	ENST00000354452.3	-	17	2214	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	TCF4_ENST00000564403.2_Missense_Mutation_p.D541H|TCF4_ENST00000566279.1_Missense_Mutation_p.D475H|TCF4_ENST00000561992.1_Missense_Mutation_p.D405H|TCF4_ENST00000457482.3_Missense_Mutation_p.D375H|TCF4_ENST00000567880.1_Missense_Mutation_p.D475H|TCF4_ENST00000565018.2_Missense_Mutation_p.D535H|TCF4_ENST00000540999.1_Missense_Mutation_p.D511H|TCF4_ENST00000564999.1_Missense_Mutation_p.D535H|TCF4_ENST00000356073.4_Missense_Mutation_p.D535H|TCF4_ENST00000564228.1_Missense_Mutation_p.D464H|TCF4_ENST00000398339.1_Missense_Mutation_p.D637H|TCF4_ENST00000544241.2_Missense_Mutation_p.D464H|TCF4_ENST00000537856.3_Missense_Mutation_p.D405H|TCF4_ENST00000568673.1_Missense_Mutation_p.D511H|TCF4_ENST00000543082.1_Missense_Mutation_p.D493H|TCF4_ENST00000537578.1_Missense_Mutation_p.D511H|TCF4_ENST00000570287.2_Missense_Mutation_p.D375H|TCF4_ENST00000568740.1_Missense_Mutation_p.D510H|TCF4_ENST00000570177.2_Missense_Mutation_p.D405H|TCF4_ENST00000566286.1_Missense_Mutation_p.D532H|TCF4_ENST00000561831.3_Missense_Mutation_p.D375H	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	535			D -> G (in PTHS; loss of function).		positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.D637H(1)|p.D535H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGTCGTCATCTAATTTCTTG	0.413000													8	51					0	0	0.004482	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016692	2016692	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:2016692G>A	ENST00000382722.5	-	6	1057	c.695C>T	c.(694-696)gCt>gTt	p.A232V	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A168V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A232V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A232V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A168V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A232V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	232						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACGAAGACAGCATTCAAGGC	0.438000													8	6					0	0	0.004482	0	0
ABCB4	5244	broad.mit.edu	37	7	87104718	87104718	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:87104718C>G	ENST00000265723.4	-	2	175	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.E22Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E22Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.E22Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.E22Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	22					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGCCCAGTTCAAAGTCGCCC	0.547000													10	60					0	0	0.006214	0	0
ENTPD2	954	broad.mit.edu	37	9	139943283	139943283	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:139943283G>C	ENST00000355097.2	-	9	1361	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L	ENTPD2_ENST00000460614.1_5'UTR|ENTPD2_ENST00000312665.5_Silent_p.L415L	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	438						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCATGTAGCCGAGCGCCCAGC	0.736000													4	4					0	0	0.001984	0	0
MTR	4548	broad.mit.edu	37	1	237015873	237015873	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:237015873C>G	ENST00000366577.5	+	17	2142	c.1748C>G	c.(1747-1749)tCc>tGc	p.S583C	MTR_ENST00000535889.1_Missense_Mutation_p.S583C	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	583	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCCTTCTCCTTCCGAGGA	0.423000													23	41					0	0	0.003330	0	0
TBX1	6899	broad.mit.edu	37	22	19766778	19766778	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:19766778G>A	ENST00000329705.7	+	9	1174	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	349					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGTGAAAGCTGAGACGTCTAG	0.547000													14	23					0	0	0.003163	0	0
CRHR1	1394	broad.mit.edu	37	17	43910817	43910817	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:43910817G>A	ENST00000314537.5	+	10	1068		c.e10-1		CRHR1_ENST00000577353.1_Splice_Site|CRHR1_ENST00000293493.7_Splice_Site|CRHR1_ENST00000339069.5_Splice_Site|CRHR1_ENST00000352855.5_Splice_Site|CRHR1_ENST00000398285.3_Splice_Site	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1						female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCAAATTGCAGATCAATTTCA	0.562000													17	46					0	0	0.004007	0	0
CD300C	10871	broad.mit.edu	37	17	72541012	72541012	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:72541012C>G	ENST00000330793.1	-	2	496	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	46	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGTTCCTTCTCATAGCGACAC	0.527000													31	14					0	0	0.012213	0	0
ZNF17	7565	broad.mit.edu	37	19	57929280	57929280	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:57929280G>C	ENST00000307658.7	+	3	285	c.22G>C	c.(22-24)Gat>Cat	p.D8H	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Splice_Site_p.D6H|AC003002.6_ENST00000596400.1_Splice_Site_p.D18H|ZNF17_ENST00000595206.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATTTTGGCAGGATTATATGGT	0.413000													30	92					0	0	0.009535	0	0
MYH13	8735	broad.mit.edu	37	17	10253988	10253988	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:10253988G>A	ENST00000418404.3	-	11	1192	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	MYH13_ENST00000252172.4_Silent_p.F343F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	343	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCTGAGCTGAAGCCCAGGA	0.493000													10	62					0	0	0.006214	0	0
NKX2-5	1482	broad.mit.edu	37	5	172660171	172660171	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:172660171C>T	ENST00000329198.4	-	2	649	c.376G>A	c.(376-378)Gag>Aag	p.E126K	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	126			E -> V (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGTCCGCCTCTGTCTTCTCC	0.672000													4	4					0	0	0.009096	0	0
ZNF658	26149	broad.mit.edu	37	9	40772514	40772514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:40772514C>T	ENST00000602553.1	-	5	3055	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E921K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	921					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATGACTTCTCAGAGAAGGTT	0.453000													29	131					0	0	0.010818	0	0
FTSJ3	117246	broad.mit.edu	37	17	61898226	61898226	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:61898226C>G	ENST00000427159.2	-	18	2690	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	682					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TATGAGGTCTCTCTTGGCCTT	0.473000													13	45					0	0	0.004990	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458296	45458296	+	RNA	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:45458296C>T	ENST00000548424.1	+	0	448																											AGGCACATCCCTCTGTTACTC	0.453000													7	12					0	0	0.001984	0	0
CELSR3	1951	broad.mit.edu	37	3	48679297	48679297	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:48679297G>A	ENST00000544264.1	-	33	9106	c.8826C>T	c.(8824-8826)ctC>ctT	p.L2942L	CELSR3_ENST00000164024.4_Silent_p.L2937L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2937					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGGTGGGTGAGGAGCCTCT	0.627000													3	4					0	0	0.004672	0	0
LRRC3	81543	broad.mit.edu	37	21	45877273	45877273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:45877273C>T	ENST00000291592.4	+	2	1063	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	249						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GCCCCCGCCTCCAAGGACCCC	0.642000													25	48					0	0	0.003954	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604447	64604447	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:64604447C>T	ENST00000342711.5	-	10	1249	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	417					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTGGAGCTTCCGCTCCAGGGC	0.637000													12	38					0	0	0.013537	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146413	70146413	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:70146413C>G	ENST00000374299.3	-	10	1728	c.1584G>C	c.(1582-1584)tgG>tgC	p.W528C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.W528C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	528					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGCTGTCTCCAGATGACCA	0.498000													2	2					0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38771051	38771051	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:38771051G>C	ENST00000359357.3	+	20	2601	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1000Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.E783Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGATTTATGAAGTGAAATA	0.358000													13	64					0	0	0.001855	0	0
CEP152	22995	broad.mit.edu	37	15	49048221	49048221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:49048221G>A	ENST00000380950.2	-	20	3411	c.3224C>T	c.(3223-3225)tCg>tTg	p.S1075L	CEP152_ENST00000399334.3_Missense_Mutation_p.S1075L|CEP152_ENST00000325747.5_Missense_Mutation_p.S982L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1075					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGAACAAGTCGACATGATTTC	0.393000													53	48					0	0	0.014410	0	0
PXMP2	5827	broad.mit.edu	37	12	133291561	133291561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:133291561C>T	ENST00000545677.1	+	5	630	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	PGAM5_ENST00000498926.2_Silent_p.I103I|PGAM5_ENST00000317555.2_Silent_p.I103I|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TCTTCCTCATCAGGCATTCCC	0.587000													17	24					0	0	0.004007	0	0
ZNF800	168850	broad.mit.edu	37	7	127013568	127013568	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:127013568C>T	ENST00000393313.1	-	5	2413	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	ZNF800_ENST00000393312.1_Missense_Mutation_p.E608K|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.E608K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ACTTTTACTTCAATACCGACG	0.363000													20	54					0	0	0.007413	0	0
RAF1	5894	broad.mit.edu	37	3	12641734	12641734	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:12641734T>C	ENST00000251849.4	-	9	1346	c.907A>G	c.(907-909)Aca>Gca	p.T303A	RAF1_ENST00000534997.1_Missense_Mutation_p.T88A|RAF1_ENST00000442415.2_Missense_Mutation_p.T323A|RAF1_ENST00000542177.1_Missense_Mutation_p.T222A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	303					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GACCAGCCTGTTGGGCTCAGA	0.507000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				16	31					0	0	0.003163	0	0
PHKA1	5255	broad.mit.edu	37	X	71876047	71876047	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:71876047C>T	ENST00000373545.3	-	10	1402	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	PHKA1_ENST00000541944.1_Missense_Mutation_p.E322K|PHKA1_ENST00000373542.4_Missense_Mutation_p.E322K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E322K|PHKA1_ENST00000373539.3_Missense_Mutation_p.E322K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	322					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCAATGTTTTCAAATAGCTTC	0.393000													23	79					0	0	0.014323	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723969	30723969	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:30723969G>C	ENST00000217315.5	+	3	511	c.171G>C	c.(169-171)gaG>gaC	p.E57D	TM9SF4_ENST00000398022.2_Missense_Mutation_p.E74D			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	74						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAAGGCAGAGAATCTGGGTA	0.468000													34	18					0	0	0.012213	0	0
TP53BP2	7159	broad.mit.edu	37	1	223989853	223989853	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:223989853G>T	ENST00000391878.2	-	10	1571	c.803C>A	c.(802-804)cCc>cAc	p.P268H	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P397H	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	391					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCTCATGTTGGGCAGTGTCTG	0.507000													13	53					4.3838e-07	4.79274e-07	0.001855	1	0
C10orf62	414157	broad.mit.edu	37	10	99349861	99349861	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:99349861C>T	ENST00000370640.3	+	1	412	c.207C>T	c.(205-207)gtC>gtT	p.V69V	HOGA1_ENST00000370646.4_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	69							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		GTGAAGAGGTCAGCTCCACGG	0.577000													14	26					0	0	0.001855	0	0
EMR1	2015	broad.mit.edu	37	19	6926454	6926454	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:6926454G>C	ENST00000312053.4	+	16	2101	c.2064G>C	c.(2062-2064)gtG>gtC	p.V688V	EMR1_ENST00000381404.4_Silent_p.V636V|EMR1_ENST00000381407.5_Silent_p.V547V|EMR1_ENST00000450315.3_Silent_p.V511V|EMR1_ENST00000250572.8_Silent_p.V623V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	688					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGAGGCTGTGATACTGTTCT	0.532000													9	35					0	0	0.004482	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478797	42478797	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:42478797G>C	ENST00000434000.1	-	9	696	c.414C>G	c.(412-414)ttC>ttG	p.F138L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.F216L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	216						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGTTGGTTTGAACATGGGAC	0.393000													28	115					0	0	0.007291	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274891	2274891	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:2274891G>A	ENST00000242257.8	-	3	635	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R109W	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	203					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTCTGTAACCGACGGCTTTGA	0.517000													19	32					0	0	0.007413	0	0
BCAS1	8537	broad.mit.edu	37	20	52645355	52645355	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:52645355G>C	ENST00000395961.3	-	4	465	c.299C>G	c.(298-300)tCt>tGt	p.S100C	BCAS1_ENST00000371440.3_Missense_Mutation_p.S100C|BCAS1_ENST00000371435.2_Missense_Mutation_p.S100C|BCAS1_ENST00000411563.1_Missense_Mutation_p.S3C	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	100						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TACAGGCCGAGAGAGCATCAA	0.512000													6	38					0	0	0.001168	0	0
ZNF526	116115	broad.mit.edu	37	19	42730256	42730256	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:42730256C>G	ENST00000301215.3	+	3	1926	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TCACTGGTCTCTACAACAAGA	0.657000													20	27					0	0	0.008871	0	0
ZNF728	388523	broad.mit.edu	37	19	23159417	23159417	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:23159417G>C	ENST00000594710.1	-	4	867	c.722C>G	c.(721-723)tCa>tGa	p.S241*		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTAAGGATTGAGAACTTACT	0.398000													18	25					0	0	0.006122	0	0
EMILIN2	84034	broad.mit.edu	37	18	2909774	2909774	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:2909774C>G	ENST00000254528.3	+	7	2940	c.2781C>G	c.(2779-2781)aaC>aaG	p.N927K	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	927	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCCTCTTTAACAAAGTGCTGG	0.567000													47	29					0	0	0.014410	0	0
SBNO1	55206	broad.mit.edu	37	12	123821017	123821017	+	Missense_Mutation	SNP	C	C	G	rs138608894		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:123821017C>G	ENST00000420886.2	-	5	672	c.673G>C	c.(673-675)Gat>Cat	p.D225H	SBNO1_ENST00000602398.1_Missense_Mutation_p.D225H|SBNO1_ENST00000602750.1_Missense_Mutation_p.D224H|SBNO1_ENST00000267176.4_Missense_Mutation_p.D224H	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	225							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ggttcatcatcttcttttACA	0.418000													7	19					0	0	0.003080	0	0
WNK3	65267	broad.mit.edu	37	X	54324643	54324643	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:54324643C>T	ENST00000354646.2	-	7	1801	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	WNK3_ENST00000375169.3_Missense_Mutation_p.E455K|WNK3_ENST00000375159.2_Missense_Mutation_p.E455K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	455					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTATCTGTTTCTAAGTTGAAA	0.368000													6	32					0	0	0.001984	0	0
TRA2A	29896	broad.mit.edu	37	7	23547131	23547131	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:23547131C>T	ENST00000297071.4	-	5	765	c.549G>A	c.(547-549)atG>atA	p.M183I	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.M82I|TRA2A_ENST00000392502.4_Missense_Mutation_p.M82I	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	183	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CATCCAGCTCCATTCCATTTG	0.413000													31	55					0	0	0.012213	0	0
USP45	85015	broad.mit.edu	37	6	99885210	99885210	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:99885210C>G	ENST00000327681.6	-	17	2758	c.2226G>C	c.(2224-2226)atG>atC	p.M742I	USP45_ENST00000500704.2_Missense_Mutation_p.M742I|USP45_ENST00000392738.2_Missense_Mutation_p.M422I|USP45_ENST00000539675.1_Missense_Mutation_p.M35I|USP45_ENST00000369233.2_Missense_Mutation_p.M694I	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	742					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGCCTTCTCTCATCGAGCCAC	0.393000													7	32					0	0	0.001984	0	0
SESN3	143686	broad.mit.edu	37	11	94926657	94926657	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:94926657C>G	ENST00000536441.1	-	2	444	c.108G>C	c.(106-108)ttG>ttC	p.L36F	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.L36F|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.L36F	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	36					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GTCCTCTTGTCAAGGGTTGAG	0.269000													7	22					0	0	0.001984	0	0
C5orf22	55322	broad.mit.edu	37	5	31545814	31545814	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:31545814G>A	ENST00000355907.3	+	7	1181	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000325366.9_Missense_Mutation_p.E352K			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	352										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ACCAGACTATGAAATGGTAAA	0.333000													44	87					0	0	0.011902	0	0
SLC4A8	9498	broad.mit.edu	37	12	51834570	51834570	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:51834570G>C	ENST00000453097.2	+	2	344	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	SLC4A8_ENST00000394856.1_5'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E70Q|SLC4A8_ENST00000514353.3_5'UTR|SLC4A8_ENST00000535225.2_5'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	43					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGAAGAGCTGGAAGGTAAGAA	0.473000													10	25					0	0	0.008291	0	0
MYPN	84665	broad.mit.edu	37	10	69881472	69881472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:69881472G>T	ENST00000358913.5	+	2	765	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E93*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E93*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	93	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAAGGCAGATGAAACTCAAGC	0.438000													12	39					0.00010058	0.000108186	0.013537	1	0
TEX14	56155	broad.mit.edu	37	17	56690860	56690860	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:56690860G>A	ENST00000389934.3	-	9	1044	c.927C>T	c.(925-927)ctC>ctT	p.L309L	TEX14_ENST00000349033.5_Silent_p.L309L|TEX14_ENST00000240361.8_Silent_p.L315L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	315	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCCTGGGAGAGACACACAG	0.488000													47	32					0	0	0.014410	0	0
RASL10A	10633	broad.mit.edu	37	22	29709884	29709884	+	Silent	SNP	C	C	G	rs142453742		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:29709884C>G	ENST00000401450.3	-	2	757	c.312G>C	c.(310-312)gtG>gtC	p.V104V	RASL10A_ENST00000608559.1_5'UTR|RASL10A_ENST00000216101.6_Silent_p.V104V			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	104	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						GCAGGGCCTTCACGTAGTCGA	0.652000													22	17					0	0	0.012319	0	0
RBM15	64783	broad.mit.edu	37	1	110882083	110882083	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:110882083C>G	ENST00000369784.3	+	1	956	c.56C>G	c.(55-57)gCg>gGg	p.A19G	RBM15_ENST00000487146.2_Missense_Mutation_p.A19G|RBM15_ENST00000602849.1_Missense_Mutation_p.A19G	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	19					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGCGGCGTGCGGTTCCGCTG	0.612000			T	MKL1	acute megakaryocytic leukemia								9	13					0	0	0.006214	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803936	23803936	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:23803936G>C	ENST00000264867.2	-	11	2171	c.2052C>G	c.(2050-2052)atC>atG	p.I684M	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	684	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTCAGGTCTGATTTTACCGA	0.507000													14	77					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179605087	179605087	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179605087G>C	ENST00000589042.1	-	48	13097	c.12873C>G	c.(12871-12873)gtC>gtG	p.V4291V	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.V4120V|TTN_ENST00000591111.1_Silent_p.V3974V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V4053V|TTN_ENST00000460472.2_Silent_p.V3928V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3974	Ig-like 23.		I -> T (in a colorectal adenocarcinoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTGAAGGGACTAGGGGCT	0.468000													7	24					0	0	0.001984	0	0
RBM44	375316	broad.mit.edu	37	2	238727037	238727037	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:238727037C>G	ENST00000316997.4	+	3	1610	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S493C	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	492							nucleotide binding|RNA binding	p.S493Y(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCTGTAGTATCTACATCAAGC	0.393000													10	12					0	0	0.006214	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085806	42085806	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:42085806C>G	ENST00000407170.2	+	4	954	c.141C>G	c.(139-141)ttC>ttG	p.F47L	CEACAM21_ENST00000401445.2_Missense_Mutation_p.F175L|CEACAM21_ENST00000187608.9_Missense_Mutation_p.F175L|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	175						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAACCTCTTTCCAGTGGATTT	0.542000													12	19					0	0	0.010729	0	0
GNB3	2784	broad.mit.edu	37	12	6952801	6952801	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6952801C>G	ENST00000229264.3	+	8	841	c.436C>G	c.(436-438)Ctc>Gtc	p.L146V	GNB3_ENST00000435982.2_Missense_Mutation_p.L146V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	146					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCAGGTTATCTCTCCTGCTG	0.612000													26	37					0	0	0.005443	0	0
SLC44A5	204962	broad.mit.edu	37	1	75688108	75688108	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:75688108G>T	ENST00000370855.5	-	14	1136	c.1023C>A	c.(1021-1023)ctC>ctA	p.L341L	SLC44A5_ENST00000535611.1_Silent_p.L211L|SLC44A5_ENST00000370859.3_Silent_p.L341L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	341						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGATCAGCATGAGGATGACAA	0.403000													4	29					0.000602214	0.000644444	0.000602	1	0
MACF1	23499	broad.mit.edu	37	1	39823495	39823495	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:39823495C>T	ENST00000564288.1	+	45	12650	c.11873C>T	c.(11872-11874)tCa>tTa	p.S3958L	MACF1_ENST00000289893.4_Missense_Mutation_p.S2398L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.S1896L|MACF1_ENST00000545844.1_Missense_Mutation_p.S1896L|MACF1_ENST00000317713.7_Missense_Mutation_p.S1896L|MACF1_ENST00000567887.1_Missense_Mutation_p.S3995L|MACF1_ENST00000539005.1_Missense_Mutation_p.S1896L|MACF1_ENST00000372915.3_Missense_Mutation_p.S3963L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3963					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGAACCATCAGAAATTGGA	0.433000													8	30					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126412334	126412334	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:126412334G>T	ENST00000394329.3	+	17	14370	c.14357G>T	c.(14356-14358)gGa>gTa	p.G4786V	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCCAGTCGGACTTTCTATT	0.532000													23	33					6.44725e-10	7.12847e-10	0.014323	1	0
OR1L8	138881	broad.mit.edu	37	9	125330588	125330588	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:125330588G>C	ENST00000304865.2	-	1	250	c.169C>G	c.(169-171)Cag>Gag	p.Q57E		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATAGGGGTCTGAAGATGGGGG	0.453000													7	39					0	0	0.001984	0	0
THOC2	57187	broad.mit.edu	37	X	122756955	122756955	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:122756955C>G	ENST00000245838.8	-	29	3714		c.e29+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AATAAGCATACCAGTCTCCTC	0.373000													13	72					0	0	0.013537	0	0
DNAH3	55567	broad.mit.edu	37	16	20975126	20975126	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:20975126G>A	ENST00000261383.3	-	53	10079	c.10080C>T	c.(10078-10080)aaC>aaT	p.N3360N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3360					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACGGCACACGTTGTTGTAGA	0.478000													13	55					0	0	0.003163	0	0
MAGED2	10916	broad.mit.edu	37	X	54836548	54836548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:54836548C>T	ENST00000375068.1	+	3	672	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAGED2_ENST00000375060.1_Nonsense_Mutation_p.Q109*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.Q147*|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000218439.4_Nonsense_Mutation_p.Q147*|MAGED2_ENST00000347546.4_Nonsense_Mutation_p.Q129*|MAGED2_ENST00000375058.1_Nonsense_Mutation_p.Q147*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.Q147*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.Q109*			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	147										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TGCACCCTCTCAGGCCCCAGC	0.552000													5	10					0	0	0.000602	0	0
MKI67	4288	broad.mit.edu	37	10	129914118	129914118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:129914118G>C	ENST00000368654.3	-	7	929	c.554C>G	c.(553-555)tCa>tGa	p.S185*	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	185					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCATGTTCTGAGGAATGAAC	0.413000													51	56					0	0	0.014410	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091681	16091681	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16091681G>A	ENST00000375766.3	+	3	843	c.203G>A	c.(202-204)aGa>aAa	p.R68K	FBLIM1_ENST00000441801.2_Missense_Mutation_p.R68K|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R68K|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R68K|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R68K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	68	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACCCCTGGCAGAGCTGCAGCC	0.672000													6	24					0	0	0.001168	0	0
ZNF229	7772	broad.mit.edu	37	19	44934685	44934685	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:44934685G>C	ENST00000291187.4	-	6	575	c.253C>G	c.(253-255)Caa>Gaa	p.Q85E	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q91E	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	91	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTTCATCTTGAATATACTCC	0.418000													9	27					0	0	0.006214	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106065309	106065309	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:106065309G>C	ENST00000357242.5	+	4	637	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E155Q|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.E155Q|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E155Q	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	155	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGTTTACCAGAGAAGGAGAA	0.373000													37	83					0	0	0.003755	0	0
INHBA	3624	broad.mit.edu	37	7	41739585	41739585	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:41739585C>T	ENST00000242208.4	-	2	634	c.388G>A	c.(388-390)Gga>Aga	p.G130R	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Splice_Site_p.G130R	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	130					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGCACCAACCTGACTCGGCA	0.522000										TSP Lung(11;0.080)			20	81					0	0	0.007413	0	0
TUBA3E	112714	broad.mit.edu	37	2	130952697	130952697	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:130952697G>C	ENST00000312988.7	-	3	430	c.330C>G	c.(328-330)atC>atG	p.I110M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	110					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCTCCTTGCCGATGGTGTAAT	0.542000													27	28					0	0	0.006999	0	0
MRPS21	54460	broad.mit.edu	37	1	150280534	150280534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:150280534G>T	ENST00000369084.5	+	2	583	c.136G>T	c.(136-138)Gag>Tag	p.E46*	MRPS21_ENST00000309092.7_Nonsense_Mutation_p.E46*	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	46					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGGTATTATGAGAAGCCATG	0.463000													13	30					4.3838e-07	4.79274e-07	0.001855	1	0
SCN9A	6335	broad.mit.edu	37	2	167128957	167128957	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:167128957C>G	ENST00000303354.6	-	17	3646	c.3306G>C	c.(3304-3306)atG>atC	p.M1102I	SCN9A_ENST00000409435.1_Missense_Mutation_p.M1101I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1090I|SCN9A_ENST00000375387.4_Missense_Mutation_p.M1102I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1101						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTCAGCATTCATATTTTCCA	0.383000													8	8					0	0	0.004482	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789272	6789272	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:6789272C>T	ENST00000338569.2	-	1	1014	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGTATTTTCCCAGGACCCT	0.488000													4	21					0	0	0.009096	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558726	61558726	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:61558726C>G	ENST00000457692.1	+	3	381	c.48C>G	c.(46-48)ttC>ttG	p.F16L	SERPINB2_ENST00000299502.4_Missense_Mutation_p.F16L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	16					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.F16L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAATTTATTCAAGCATCTGG	0.483000													12	57					0	0	0.010729	0	0
ASXL2	55252	broad.mit.edu	37	2	25967002	25967002	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:25967002C>T	ENST00000435504.4	-	13	2497	c.2204G>A	c.(2203-2205)gGa>gAa	p.G735E	ASXL2_ENST00000404843.1_Missense_Mutation_p.G475E|ASXL2_ENST00000272341.4_Missense_Mutation_p.G475E|ASXL2_ENST00000336112.4_Missense_Mutation_p.G707E			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	735	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCTGCTTCCAGTTCCTGC	0.587000													26	137					0	0	0.003954	0	0
KLK5	25818	broad.mit.edu	37	19	51452183	51452183	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:51452183G>T	ENST00000336334.3	-	4	876	c.524C>A	c.(523-525)tCc>tAc	p.S175Y	KLK5_ENST00000391809.2_Missense_Mutation_p.S175Y|KLK5_ENST00000593428.1_Missense_Mutation_p.S175Y	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	175	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACAATGAGAGGAGACGTTGAT	0.537000													16	31					2.31682e-05	2.5049e-05	0.003163	1	0
ZNF217	7764	broad.mit.edu	37	20	52192701	52192701	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:52192701G>C	ENST00000371471.2	-	4	3027	c.2602C>G	c.(2602-2604)Cct>Gct	p.P868A	ZNF217_ENST00000302342.3_Missense_Mutation_p.P868A			O75362	ZN217_HUMAN	zinc finger protein 217	868					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGCTGAGAAGGAGCTACTGGA	0.517000													12	87					0	0	0.010729	0	0
MRPL37	51253	broad.mit.edu	37	1	54666234	54666234	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:54666234C>G	ENST00000605337.1	+	1	366	c.318C>G	c.(316-318)atC>atG	p.I106M	MRPL37_ENST00000336230.6_Missense_Mutation_p.S76C|MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Missense_Mutation_p.I106M			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	106					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CCTGCTATATCTTTCACCACC	0.627000													29	29					0	0	0.003271	0	0
CUL3	8452	broad.mit.edu	37	2	225422441	225422441	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:225422441G>A	ENST00000264414.4	-	2	537	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	CUL3_ENST00000409096.1_Missense_Mutation_p.H43Y|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.H43Y	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	67					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCATGTTTATGCAAAACCATT	0.348000													10	14					0	0	0.008291	0	0
CCDC136	64753	broad.mit.edu	37	7	128441368	128441368	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:128441368G>C	ENST00000297788.4	+	4	842	c.475G>C	c.(475-477)Gat>Cat	p.D159H	CCDC136_ENST00000464832.1_Missense_Mutation_p.D209H|CCDC136_ENST00000487361.1_Missense_Mutation_p.D159H|CCDC136_ENST00000378685.4_Missense_Mutation_p.D209H	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	159	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCAGCAGAGGATTCCGCAAC	0.488000													15	13					0	0	0.003163	0	0
OR6B1	135946	broad.mit.edu	37	7	143701887	143701887	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:143701887C>T	ENST00000408922.2	+	1	866	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCATGCCTTCAACATGAACA	0.423000													21	84					0	0	0.010504	0	0
STAT1	6772	broad.mit.edu	37	2	191848376	191848376	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:191848376C>T	ENST00000361099.3	-	17	1825	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	STAT1_ENST00000392323.2_Missense_Mutation_p.E482K|STAT1_ENST00000409465.1_Missense_Mutation_p.E480K|STAT1_ENST00000392322.3_Missense_Mutation_p.E480K|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	480					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACCCTGGGTTCCGCCACCAGC	0.557000													50	69					0	0	0.014410	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352950	41352950	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:41352950C>G	ENST00000301141.5	-	5	681	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	221					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GAGAACATCTCATAGAGCTGG	0.532000													13	18					0	0	0.001855	0	0
USP36	57602	broad.mit.edu	37	17	76832341	76832341	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:76832341G>A	ENST00000542802.3	-	3	548	c.105C>T	c.(103-105)gtC>gtT	p.V35V	USP36_ENST00000312010.6_Silent_p.V35V|USP36_ENST00000590546.2_Silent_p.V35V|USP36_ENST00000589424.1_Silent_p.V35V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTGTAAAAGGACCTTCTTGG	0.517000													15	12					0	0	0.003163	0	0
SPSB2	84727	broad.mit.edu	37	12	6981922	6981922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6981922C>T	ENST00000519357.1	-	2	330	c.144G>A	c.(142-144)tgG>tgA	p.W48*	SPSB2_ENST00000524270.1_Nonsense_Mutation_p.W48*|SPSB2_ENST00000523102.1_Nonsense_Mutation_p.W48*			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	48	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTTTGGGGTTCCAACCGTGGC	0.647000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	83					0	0	0.014410	0	0
ZNF551	90233	broad.mit.edu	37	19	58198932	58198932	+	Missense_Mutation	SNP	G	G	A	rs145553872		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:58198932G>A	ENST00000282296.5	+	3	1474	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.C414Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTTTTAGCTGCAAATCGGAA	0.393000													21	74					0	0	0.010504	0	0
PHKA2	5256	broad.mit.edu	37	X	18911740	18911740	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:18911740C>G	ENST00000379942.4	-	33	4236	c.3571G>C	c.(3571-3573)Gac>Cac	p.D1191H	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1191					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTGGCTTGGTCTTTCTCCAGG	0.547000													33	92					0	0	0.010818	0	0
VPS11	55823	broad.mit.edu	37	11	118940230	118940230	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:118940230G>A	ENST00000300793.6	+	4	454	c.412G>A	c.(412-414)Gag>Aag	p.E138K	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	139					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCCAGGAACAGAGCCAACTGT	0.438000													9	9					0	0	0.008291	0	0
CCDC121	79635	broad.mit.edu	37	2	27850164	27850164	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27850164C>G	ENST00000324364.3	-	2	683	c.503G>C	c.(502-504)aGa>aCa	p.R168T	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.R330T	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	168										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TCTTCTTTTTCTCTTTCCCAG	0.483000													49	35					0	0	0.014410	0	0
TBCE	6905	broad.mit.edu	37	1	235611708	235611708	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:235611708C>T	ENST00000543662.1	+	17	1703	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F	TBCE_ENST00000366601.3_Missense_Mutation_p.L482F|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.L482F			Q15813	TBCE_HUMAN	tubulin folding cofactor E	482					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GTCACGTCTTCTCAAAGTTCC	0.398000													32	66					0	0	0.004289	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325581	150325581	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:150325581C>G	ENST00000328902.5	-	3	321	c.105G>C	c.(103-105)caG>caC	p.Q35H	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	35							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGGTCTTCTGTTCTTTCT	0.522000													55	200					0	0	0.014410	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005806	30005806	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:30005806C>T	ENST00000279392.3	-	4	1490	c.660G>A	c.(658-660)ctG>ctA	p.L220L	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	220	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTTCCTTCAGGCTTTTAG	0.498000													32	124					0	0	0.012213	0	0
ZNF532	55205	broad.mit.edu	37	18	56585532	56585532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:56585532G>A	ENST00000336078.4	+	4	789	c.13G>A	c.(13-15)Gat>Aat	p.D5N	ZNF532_ENST00000591230.1_Missense_Mutation_p.D5N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D5N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D5N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D5N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCATGGGGGATATGAAGAC	0.423000													11	58					0	0	0.010729	0	0
SERINC2	347735	broad.mit.edu	37	1	31906965	31906965	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:31906965C>T	ENST00000373710.1	+	11	1587	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	SERINC2_ENST00000373709.3_Silent_p.I429I|SERINC2_ENST00000536859.1_Silent_p.I433I|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.I433I	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	430						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GGGTGAAGATCTGTGCCAGCT	0.642000													28	167					0	0	0.006320	0	0
COX17	10063	broad.mit.edu	37	3	119396068	119396068	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:119396068C>G	ENST00000261070.2	-	1	182	c.90G>C	c.(88-90)aaG>aaC	p.K30N	COX17_ENST00000484810.1_Missense_Mutation_p.K30N|COX17_ENST00000497116.1_Missense_Mutation_p.K30N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	30					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CGCGCGCCTTCTTGGTCTCCG	0.697000													10	13					0	0	0.006214	0	0
AQP11	282679	broad.mit.edu	37	11	77301565	77301565	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:77301565C>G	ENST00000313578.3	+	1	886	c.528C>G	c.(526-528)ctC>ctG	p.L176L	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	176						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCTCCTTTCTCTTCCACAGCG	0.537000													29	53					0	0	0.008361	0	0
ALAS2	212	broad.mit.edu	37	X	55054266	55054266	+	Translation_Start_Site	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:55054266T>C	ENST00000396198.3	-	0	60				ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCTGGGTTGGTATGTGGGGCC	0.493000													19	23					0	0	0.007413	0	0
GPR149	344758	broad.mit.edu	37	3	154146532	154146532	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:154146532C>T	ENST00000389740.2	-	1	972	c.873G>A	c.(871-873)gaG>gaA	p.E291E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	291						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCCCCGGTTCTCACGCCTGC	0.652000													25	97					0	0	0.003330	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298773	43298773	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:43298773C>T	ENST00000325110.6	-	3	501	c.295G>A	c.(295-297)Gac>Aac	p.D99N	HMGCS1_ENST00000433297.2_Missense_Mutation_p.D99N	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	99					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTTGATTTGTCGATGATTGTC	0.408000													43	72					0	0	0.011902	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	76					0	0	0.009096	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747835	126747835	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:126747835G>A	ENST00000251772.4	+	25	4669		c.e25-1		PLXNA1_ENST00000393409.2_Splice_Site			Q9UIW2	PLXA1_HUMAN	plexin A1						axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.?(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCTCCCCCAGAGTGGCGCCA	0.642000													11	45					0	0	0.001855	0	0
HNF4G	3174	broad.mit.edu	37	8	76471198	76471198	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:76471198T>C	ENST00000396423.2	+	8	1143	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	HNF4G_ENST00000354370.1_Missense_Mutation_p.I303T	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	303					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGCAAATGATTGAGCAAATA	0.423000													7	66					0	0	0.001984	0	0
PRPF31	26121	broad.mit.edu	37	19	54621692	54621692	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54621692G>A	ENST00000321030.4	+	2	383	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PRPF31_ENST00000391755.1_Missense_Mutation_p.E12K|PRPF31_ENST00000419967.1_Missense_Mutation_p.E12K	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	12					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGATCTCgaagaggcagc	0.562000													21	55					0	0	0.008871	0	0
MVP	9961	broad.mit.edu	37	16	29858704	29858704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:29858704C>T	ENST00000357402.5	+	14	2590	c.2452C>T	c.(2452-2454)Cag>Tag	p.Q818*	MVP_ENST00000395353.1_Nonsense_Mutation_p.Q818*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	818					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCTGAGATGCAGGTGAGAGT	0.552000													5	19					0	0	0.000602	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865982	100865982	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:100865982C>G	ENST00000305105.2	+	2	648	c.120C>G	c.(118-120)ttC>ttG	p.F40L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	40							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGACAACTTCCAGGATGACC	0.672000													16	73					0	0	0.004007	0	0
ZNF532	55205	broad.mit.edu	37	18	56586165	56586165	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:56586165G>A	ENST00000336078.4	+	4	1422	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ZNF532_ENST00000591230.1_Missense_Mutation_p.E216K|ZNF532_ENST00000589288.1_Missense_Mutation_p.E216K|ZNF532_ENST00000591808.1_Missense_Mutation_p.E216K|ZNF532_ENST00000591083.1_Missense_Mutation_p.E216K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGTGTTTATGAACCTTTTAA	0.418000													19	113					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237944909	237944909	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:237944909G>A	ENST00000366574.2	+	89	12242	c.11925G>A	c.(11923-11925)caG>caA	p.Q3975Q	RYR2_ENST00000360064.6_Silent_p.Q3981Q|RYR2_ENST00000542537.1_Silent_p.Q3959Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3975					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)			TGGATCTGCAGAAGGATATGG	0.323000													6	5					0	0	0.001984	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885584	88885584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:88885584G>A	ENST00000319675.3	-	1	712	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	206										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGGACCTGCTGAGACAAGCCT	0.547000													16	74					0	0	0.004007	0	0
ECH1	1891	broad.mit.edu	37	19	39321735	39321735	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:39321735C>G	ENST00000221418.4	-	3	564	c.332G>C	c.(331-333)gGa>gCa	p.G111A	AC104534.3_ENST00000594769.1_Missense_Mutation_p.E281Q|ECH1_ENST00000597805.1_5'UTR	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAACATTTTTCCTGCACCAGA	0.507000													9	31					0	0	0.008291	0	0
FBLN2	2199	broad.mit.edu	37	3	13659600	13659600	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:13659600G>A	ENST00000404922.3	+	6	1873	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	FBLN2_ENST00000535798.1_Missense_Mutation_p.R611Q|FBLN2_ENST00000295760.7_Missense_Mutation_p.R585Q|FBLN2_ENST00000492059.1_Missense_Mutation_p.R585Q	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	585						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGGCGGGCCGAGAGGCCCTG	0.617000													29	74					0	0	0.009535	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387874	119387874	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:119387874C>G	ENST00000326624.2	+	2	832	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	ZBTB33_ENST00000557385.1_Missense_Mutation_p.L202V	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	202					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGAGATTCTGCCCACAAA	0.413000													11	66					0	0	0.010729	0	0
ABLIM2	84448	broad.mit.edu	37	4	8079423	8079423	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:8079423C>G	ENST00000296372.8	-	6	749	c.607G>C	c.(607-609)Gac>Cac	p.D203H	ABLIM2_ENST00000545242.1_Missense_Mutation_p.D203H|ABLIM2_ENST00000546334.1_Missense_Mutation_p.D203H|ABLIM2_ENST00000407564.3_Missense_Mutation_p.D203H|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D203H|ABLIM2_ENST00000428004.2_Missense_Mutation_p.D203H|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000505872.1_Missense_Mutation_p.D203H|ABLIM2_ENST00000361737.5_Missense_Mutation_p.D203H|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D203H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D203H			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	203	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCGTGATAGTCAGCTTCGCAG	0.627000													3	4					0	0	0.004672	0	0
ABCA4	24	broad.mit.edu	37	1	94564374	94564374	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:94564374C>A	ENST00000370225.3	-	6	830	c.744G>T	c.(742-744)gtG>gtT	p.V248V	ABCA4_ENST00000535735.1_Silent_p.V248V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	248					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAAGAAGTCCACGTTGGCAT	0.572000													12	36					6.31663e-08	6.93693e-08	0.003163	1	0
MYL6	4637	broad.mit.edu	37	12	56552274	56552274	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:56552274G>C	ENST00000536128.1	+	1	129	c.89G>C	c.(88-90)aGg>aCg	p.R30T	MYL6_ENST00000548293.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R30T|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000551589.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGCAGGGGTAGGAGGCAAAGG	0.622000													6	25					0	0	0.001984	0	0
MYO10	4651	broad.mit.edu	37	5	16701418	16701418	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:16701418G>C	ENST00000513610.1	-	25	3540	c.3086C>G	c.(3085-3087)tCt>tGt	p.S1029C	MYO10_ENST00000274203.9_Missense_Mutation_p.S386C|MYO10_ENST00000515803.1_Missense_Mutation_p.S368C|MYO10_ENST00000505695.1_Missense_Mutation_p.S368C|MYO10_ENST00000427430.2_Missense_Mutation_p.S386C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1029					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTCCTCTGAAGAGTCATCGCT	0.647000													9	24					0	0	0.004482	0	0
PTPN13	5783	broad.mit.edu	37	4	87730976	87730976	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:87730976G>C	ENST00000436978.1	+	46	7633	c.7153G>C	c.(7153-7155)Gat>Cat	p.D2385H	PTPN13_ENST00000411767.2_Missense_Mutation_p.D2380H|PTPN13_ENST00000427191.2_Missense_Mutation_p.D2361H|PTPN13_ENST00000316707.6_Missense_Mutation_p.D2189H|PTPN13_ENST00000511467.1_Missense_Mutation_p.D2385H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2380	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCCAGACCATGATACACCTTC	0.433000													15	69					0	0	0.004990	0	0
MIOS	54468	broad.mit.edu	37	7	7635958	7635958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:7635958G>C	ENST00000340080.4	+	11	2688	c.2267G>C	c.(2266-2268)aGa>aCa	p.R756T	MIOS_ENST00000405785.1_Missense_Mutation_p.R756T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	756										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATCAGGGCAGAGGTTTTAGT	0.433000													13	70					0	0	0.013537	0	0
FAM187B	148109	broad.mit.edu	37	19	35715765	35715765	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:35715765G>A	ENST00000324675.3	-	2	1121	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	358						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TCTCCTGCCCGGGGAAGGGTG	0.667000													7	18					0	0	0.001984	0	0
AGA	175	broad.mit.edu	37	4	178359976	178359976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:178359976C>T	ENST00000264595.2	-	4	557	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	144					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GATAAGTCTTCATTGATAAAC	0.348000													16	15					0	0	0.007413	0	0
CIRBP	1153	broad.mit.edu	37	19	1272166	1272166	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:1272166C>T	ENST00000444172.2	+	5	593	c.459C>T	c.(457-459)tgC>tgT	p.C153C	CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000588230.1_Silent_p.C206C|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000589710.1_Silent_p.C206C|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000413636.2_Silent_p.C172C|CIRBP_ENST00000587323.1_Silent_p.C206C|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000587896.1_Silent_p.C206C|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000589235.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	0	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)		ACTGTGCTTGCCCAGAAGAGG	0.592000													5	9					0	0	0.000602	0	0
PGM5	5239	broad.mit.edu	37	9	71098851	71098851	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:71098851G>C	ENST00000396396.1	+	9	1595	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	456					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTGGTCACAGACAAATCCTT	0.517000													18	34					0	0	0.008871	0	0
EXT1	2131	broad.mit.edu	37	8	119122827	119122827	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:119122827G>C	ENST00000378204.2	-	1	1265	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	153					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCAGGACAAAGAGGCACGCCT	0.502000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				32	96					0	0	0.008361	0	0
PTH1R	5745	broad.mit.edu	37	3	46935466	46935466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:46935466G>A	ENST00000313049.5	+	2	348	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	PTH1R_ENST00000430002.2_Missense_Mutation_p.E49K|PTH1R_ENST00000449590.1_Missense_Mutation_p.E49K|PTH1R_ENST00000418619.1_Missense_Mutation_p.E49K|PTH1R_ENST00000490109.1_3'UTR			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	49						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGCCCAGTGCGAAAAACGGCT	0.607000													4	38					0	0	0.000602	0	0
HIRA	7290	broad.mit.edu	37	22	19384454	19384454	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:19384454C>T	ENST00000263208.5	-	7	766	c.510G>A	c.(508-510)ctG>ctA	p.L170L	HIRA_ENST00000546308.1_Silent_p.L126L|HIRA_ENST00000541063.1_Silent_p.L126L|HIRA_ENST00000340170.4_Silent_p.L170L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	170					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AATGACCTCTCAGAGTAGCTA	0.483000													28	16					0	0	0.005443	0	0
ANKFY1	51479	broad.mit.edu	37	17	4084577	4084577	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:4084577C>G	ENST00000341657.4	-	16	2247	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E780Q|ANKFY1_ENST00000574367.1_Missense_Mutation_p.E739Q	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	738						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCGGTGGGCTCGTTGTTTTCA	0.517000													3	26					0	0	0.004672	0	0
WASF3	10810	broad.mit.edu	37	13	27257036	27257036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:27257036G>A	ENST00000361042.4	+	9	1492	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	WASF3_ENST00000335327.5_Missense_Mutation_p.E426K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	426					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCAGTAGCTGAGGCGAAGCG	0.657000													14	78					0	0	0.003163	0	0
AQP2	359	broad.mit.edu	37	12	50349308	50349308	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:50349308G>A	ENST00000199280.3	+	4	818	c.733G>A	c.(733-735)Gat>Aat	p.D245N	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	245					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCGGACACCGATTGGGAGGA	0.697000													3	17					0	0	0.004672	0	0
PPM1L	151742	broad.mit.edu	37	3	160474166	160474166	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:160474166G>C	ENST00000498165.1	+	1	171	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	PPM1L_ENST00000497343.1_Missense_Mutation_p.E24Q	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	24					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCTGAGACCCGAGACGCTTTT	0.522000													43	43					0	0	0.006999	0	0
WIZ	58525	broad.mit.edu	37	19	15534033	15534033	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:15534033C>G	ENST00000389282.4	-	10	5023	c.4810G>C	c.(4810-4812)Gaa>Caa	p.E1604Q	WIZ_ENST00000599910.2_Missense_Mutation_p.E921Q|WIZ_ENST00000263381.7_Missense_Mutation_p.E747Q|WIZ_ENST00000545156.1_Missense_Mutation_p.E918Q|WIZ_ENST00000599686.3_Missense_Mutation_p.E788Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1604						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCTGGAATTCCACCTCACAG	0.612000													5	8					0	0	0.000602	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331844	64331844	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:64331844C>G	ENST00000301891.4	+	5	1260	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	SLC22A11_ENST00000377585.3_Missense_Mutation_p.L296V|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L296V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	296					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	ACTTCAGGAGCTCAGAAAGGT	0.567000													8	24					0	0	0.006214	0	0
SPG7	6687	broad.mit.edu	37	16	89590413	89590413	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:89590413G>A	ENST00000268704.2	+	4	391		c.e4-1		SPG7_ENST00000341316.2_Splice_Site	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCCGGCTCAGAGGAGAGGAG	0.597000													11	7					0	0	0.001855	0	0
NEMF	9147	broad.mit.edu	37	14	50292663	50292663	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:50292663G>C	ENST00000298310.5	-	16	1948	c.1499C>G	c.(1498-1500)tCa>tGa	p.S500*	NEMF_ENST00000545773.1_Nonsense_Mutation_p.S458*|NEMF_ENST00000546046.1_Nonsense_Mutation_p.S500*|AL627171.2_ENST00000595378.1_3'UTR|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	500						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTTCTGCTGACTTGAATGC	0.269000													5	15					0	0	0.000602	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	67					0	0	0.009096	0	0
ELFN2	114794	broad.mit.edu	37	22	37771293	37771293	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:37771293G>C	ENST00000402918.2	-	3	1067	c.282C>G	c.(280-282)atC>atG	p.I94M	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACCGTCCTCGATGTAGGAGA	0.597000													16	27					0	0	0.003163	0	0
GYG1	2992	broad.mit.edu	37	3	148727113	148727113	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:148727113G>A	ENST00000345003.4	+	5	832	c.532G>A	c.(532-534)Gat>Aat	p.D178N	GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000484197.1_Missense_Mutation_p.D178N|GYG1_ENST00000296048.6_Missense_Mutation_p.D178N|GYG1_ENST00000483267.1_Intron	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	178					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGCAACAACAGATATCAGAAA	0.358000													27	126					0	0	0.010818	0	0
MECP2	4204	broad.mit.edu	37	X	153296576	153296576	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:153296576C>T	ENST00000303391.6	-	4	952	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MECP2_ENST00000453960.2_Missense_Mutation_p.E247K|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	235					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCCCCTCAGCCTTGCCC	0.597000													97	207					0	0	0.014410	0	0
PARP4	143	broad.mit.edu	37	13	25008886	25008886	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:25008886G>T	ENST00000381989.3	-	31	4498	c.4393C>A	c.(4393-4395)Caa>Aaa	p.Q1465K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1465					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCGGAAGGTTGAAAATGAAAA	0.512000													10	9					2.17888e-05	2.35924e-05	0.006214	1	0
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:97605318C>T	ENST00000371203.5	+	5	951	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q260*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					cell adhesion	integral to plasma membrane	ATP binding	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502000													12	57					0	0	0.010729	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549623	27549623	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:27549623C>G	ENST00000356183.4	-	3	501	c.486G>C	c.(484-486)ttG>ttC	p.L162F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L162F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	162						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGGCCTATCAAGGCCCTGT	0.562000													15	52					0	0	0.003163	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455823	37455823	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:37455823C>G	ENST00000234170.5	-	2	658	c.513G>C	c.(511-513)gaG>gaC	p.E171D		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	171					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AAGTCTGTCTCTCAAAAAATT	0.388000													22	117					0	0	0.014323	0	0
FAM111B	374393	broad.mit.edu	37	11	58893131	58893131	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:58893131G>C	ENST00000343597.3	+	4	1752	c.1561G>C	c.(1561-1563)Gag>Cag	p.E521Q	FAM111B_ENST00000529618.1_Missense_Mutation_p.E491Q|FAM111B_ENST00000411426.1_Missense_Mutation_p.E491Q	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	521							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CACTTATACAGAGTTCTGCCC	0.378000													19	58					0	0	0.010504	0	0
PLD6	201164	broad.mit.edu	37	17	17106239	17106239	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:17106239C>G	ENST00000321560.3	-	2	629	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	201					DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						CGCTCAAATTCTTCCAGAAAA	0.512000													20	23					0	0	0.002780	0	0
FKBP15	23307	broad.mit.edu	37	9	115950759	115950759	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:115950759G>C	ENST00000238256.3	-	13	1303	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	396					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCTCCTTGCAGAGTGTTCACA	0.557000													5	27					0	0	0.000602	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:22205254C>T	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													5	13					0	0	0.000602	0	0
KCNK13	56659	broad.mit.edu	37	14	90528592	90528592	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:90528592G>C	ENST00000282146.4	+	1	484	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	15						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCACCTGAACGAGGACAACGC	0.756000													4	2					0	0	0.000602	0	0
GRTP1	79774	broad.mit.edu	37	13	114018197	114018197	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:114018197C>G	ENST00000375430.4	-	2	107	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	GRTP1_ENST00000375431.4_Missense_Mutation_p.E21Q|GRTP1_ENST00000476439.1_5'UTR			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	21						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCGAAGTCCTCAGGCCGCTCG	0.672000													18	18					0	0	0.007413	0	0
ECHS1	1892	broad.mit.edu	37	10	135180444	135180444	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:135180444C>G	ENST00000368547.3	-	5	923	c.568G>C	c.(568-570)Gag>Cag	p.E190Q		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	190					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AGGACCATCTCCATCGCCAGC	0.647000													15	28					0	0	0.003163	0	0
CPA2	1358	broad.mit.edu	37	7	129929512	129929512	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:129929512G>T	ENST00000222481.4	+	11	1240	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	395					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CAGCCCGTCAGATCCTGCCCA	0.547000													39	41					2.59497e-14	2.90201e-14	0.007835	1	0
CDCA8	55143	broad.mit.edu	37	1	38172733	38172733	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:38172733C>G	ENST00000373055.1	+	9	1068	c.795C>G	c.(793-795)ctC>ctG	p.L265L	CDCA8_ENST00000327331.2_Silent_p.L265L	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	265					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTAAGAAGCTCTCCGTAAGTC	0.473000													12	82					0	0	0.010729	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706730	189706730	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:189706730C>T	ENST00000319332.5	-	4	1118	c.921G>A	c.(919-921)ctG>ctA	p.L307L	LEPREL1_ENST00000427335.2_Silent_p.L126L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	307					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATCATAGTGCAGAGGAAGAA	0.488000													27	64					0	0	0.006320	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723916	30723916	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:30723916G>A	ENST00000217315.5	+	3	458	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TM9SF4_ENST00000398022.2_Missense_Mutation_p.E57K			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	57						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTACCTTATGAATACTATTC	0.502000													50	21					0	0	0.014410	0	0
POP1	10940	broad.mit.edu	37	8	99169894	99169894	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:99169894G>A	ENST00000401707.2	+	16	2551	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	POP1_ENST00000349693.3_Missense_Mutation_p.E824K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	824					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCCAGTTCTGAGGATAGTCG	0.537000													27	29					0	0	0.005443	0	0
CEP192	55125	broad.mit.edu	37	18	13095581	13095581	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:13095581C>G	ENST00000506447.1	+	35	6414	c.6334C>G	c.(6334-6336)Ctt>Gtt	p.L2112V	CEP192_ENST00000430049.2_Missense_Mutation_p.L1637V|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1516V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1707										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						GGGTTCTCCTCTTCTCTCACG	0.522000													27	83					0	0	0.005443	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453335	91453335	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:91453335C>T	ENST00000360468.3	+	9	1408	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	MAN2A2_ENST00000431652.2_Intron|MAN2A2_ENST00000559717.1_Missense_Mutation_p.L464F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	464					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTTGGCACTCTTTCTGACTA	0.572000													6	86					0	0	0.001984	0	0
EPHX3	79852	broad.mit.edu	37	19	15342072	15342072	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:15342072G>C	ENST00000221730.3	-	3	685	c.465C>G	c.(463-465)atC>atG	p.I155M	EPHX3_ENST00000602233.1_Missense_Mutation_p.I155M|EPHX3_ENST00000435261.1_Missense_Mutation_p.I155M	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	155						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TGACATCTTTGATGTCCACCA	0.592000													17	35					0	0	0.007413	0	0
HELQ	113510	broad.mit.edu	37	4	84374427	84374427	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:84374427C>G	ENST00000295488.3	-	2	1131	c.969G>C	c.(967-969)gtG>gtC	p.V323V	HELQ_ENST00000510985.1_Silent_p.V323V	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	323							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAAGGTCTCTCACTTTGCTGG	0.318000								Other identified genes with known or suspected DNA repair function					12	53					0	0	0.013537	0	0
PRAM1	84106	broad.mit.edu	37	19	8555372	8555372	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:8555372G>A	ENST00000423345.4	-	8	2448	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	PRAM1_ENST00000255612.3_Missense_Mutation_p.A642V			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	691	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGGCAGGAGCGCTGTTCTGGG	0.716000													7	8					0	0	0.003080	0	0
ATE1	11101	broad.mit.edu	37	10	123670439	123670439	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:123670439G>T	ENST00000369043.3	-	5	651	c.565C>A	c.(565-567)Cac>Aac	p.H189N	ATE1_ENST00000224652.6_Missense_Mutation_p.H189N|ATE1_ENST00000369040.3_Missense_Mutation_p.H93N|ATE1_ENST00000543447.1_Missense_Mutation_p.H74N|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.H182N	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	189					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGAACTGTGTGAACTTTAACT	0.393000													19	57					1.01871e-10	1.13062e-10	0.008871	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769062	140769062	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:140769062G>A	ENST00000519479.1	+	1	1611	c.1611G>A	c.(1609-1611)tcG>tcA	p.S537S	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGGGCTCGCCAGCGCTCA	0.697000													35	19					0	0	0.012213	0	0
TINF2	26277	broad.mit.edu	37	14	24709349	24709349	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:24709349G>C	ENST00000267415.7	-	8	1483	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.S346C|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	381					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTGCACAGAGACGGAGGACA	0.493000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				43	114					0	0	0.006999	0	0
HEPH	9843	broad.mit.edu	37	X	65390420	65390420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:65390420C>A	ENST00000519389.1	+	2	349	c.170C>A	c.(169-171)tCa>tAa	p.S57*	HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Nonsense_Mutation_p.S6*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.S6*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.S3*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.S6*			Q9BQS7	HEPH_HUMAN	hephaestin	3	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCCATGGAGTCAGGCCACCTC	0.517000													5	30					8.12818e-05	8.74929e-05	0.001984	1	0
SPEN	23013	broad.mit.edu	37	1	16203032	16203032	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16203032C>T	ENST00000375759.3	+	3	944	c.740C>T	c.(739-741)tCa>tTa	p.S247L	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	247	Arg-rich.|Ser-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCACCACATTCATCCCAGTCT	0.542000													11	61					0	0	0.010729	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126485	32126485	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:32126485G>C	ENST00000265070.6	-	4	1045	c.730C>G	c.(730-732)Cat>Gat	p.H244D		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	244					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TCCGAGGCATGAGCCAGGTAA	0.542000													44	63					0	0	0.007835	0	0
NPEPPS	9520	broad.mit.edu	37	17	45663005	45663005	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:45663005G>A	ENST00000322157.4	+	6	1025	c.788G>A	c.(787-789)gGt>gAt	p.G263D	NPEPPS_ENST00000530173.1_Missense_Mutation_p.G259D|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.G183D	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	263					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCAAAAGATGGTGTGTGTGTC	0.418000													77	44					0	0	0.014410	0	0
SLC8B1	80024	broad.mit.edu	37	12	113756801	113756801	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:113756801C>T	ENST00000552014.1	-	9	1285	c.770G>A	c.(769-771)gGa>gAa	p.G257E	SLC8B1_ENST00000202831.3_Missense_Mutation_p.G257E|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.G201E					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	257																	GAACAGAGATCCTCTCCGTTG	0.582000													11	29					0	0	0.001855	0	0
ZNF526	116115	broad.mit.edu	37	19	42729170	42729170	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:42729170C>G	ENST00000301215.3	+	3	840	c.615C>G	c.(613-615)ctC>ctG	p.L205L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	205	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCTACCCTCTGCGCCACCC	0.587000													59	72					0	0	0.014410	0	0
FNDC3B	64778	broad.mit.edu	37	3	172080549	172080549	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:172080549G>T	ENST00000336824.4	+	23	3021	c.2922G>T	c.(2920-2922)ctG>ctT	p.L974L	FNDC3B_ENST00000415807.2_Silent_p.L974L|FNDC3B_ENST00000416957.1_Silent_p.L974L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	974	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTCAGAGCCTGAAGCTAAAAT	0.502000													32	28					1.06801e-11	1.18893e-11	0.009535	1	0
DLC1	10395	broad.mit.edu	37	8	12952361	12952361	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:12952361C>G	ENST00000276297.4	-	12	3842	c.3433G>C	c.(3433-3435)Gac>Cac	p.D1145H	DLC1_ENST00000512044.2_Missense_Mutation_p.D742H|DLC1_ENST00000520226.1_Missense_Mutation_p.D634H|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.D708H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1145	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTGCCACGTCATAAGCAGAC	0.483000													5	9					0	0	0.001168	0	0
FLNC	2318	broad.mit.edu	37	7	128484747	128484747	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:128484747G>A	ENST00000325888.8	+	21	3489	c.3228G>A	c.(3226-3228)ctG>ctA	p.L1076L	FLNC_ENST00000346177.6_Silent_p.L1076L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1076					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGGTGGACTGGTAGGCACCC	0.662000													31	28					0	0	0.012213	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074714	1074714	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:1074714C>T	ENST00000264930.5	-	16	2083	c.2040G>A	c.(2038-2040)gtG>gtA	p.V680V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	680					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GACCGTGCTCCACGCGCAGCA	0.652000													21	34					0	0	0.002780	0	0
ZBTB47	92999	broad.mit.edu	37	3	42705288	42705288	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:42705288G>A	ENST00000457842.3	+	5	2018		c.e5-1		ZBTB47_ENST00000505904.1_Splice_Site|ZBTB47_ENST00000232974.6_Splice_Site	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CCCACCCCCAGAACTGCAATG	0.592000													4	18					0	0	0.001168	0	0
UBE4A	9354	broad.mit.edu	37	11	118261425	118261425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:118261425C>G	ENST00000252108.3	+	18	2953	c.2822C>G	c.(2821-2823)cCa>cGa	p.P941R	UBE4A_ENST00000545354.1_Missense_Mutation_p.P413R|UBE4A_ENST00000431736.2_Missense_Mutation_p.P948R	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	941					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCTATTCCCCAACTCTCTTT	0.448000													34	71					0	0	0.013726	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738662	102738662	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:102738662G>T	ENST00000210633.3	+	7	778	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	SEMA4G_ENST00000517724.1_Missense_Mutation_p.D234Y|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.D234Y|MRPL43_ENST00000370241.3_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	234	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)		TGCAGTGGGTGATGATGACAA	0.597000													15	20					2.61681e-11	2.90867e-11	0.002450	1	0
MYO9B	4650	broad.mit.edu	37	19	17322481	17322481	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:17322481G>A	ENST00000595618.1	+	39	6108	c.5956G>A	c.(5956-5958)Gag>Aag	p.E1986K	MYO9B_ENST00000594824.1_Missense_Mutation_p.E1986K|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1986K	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1986	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCGGCTGCCGGAGCTGGACCC	0.682000													12	19					0	0	0.013537	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110494936	110494936	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:110494936C>A	ENST00000260283.4	-	5	737	c.453G>T	c.(451-453)atG>atT	p.M151I	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M125I|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M115I|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M125I|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M128I|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M115I	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	151	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAAAGGATTTCATGGCATTGG	0.388000													8	21					5.4927e-09	6.05479e-09	0.004482	1	0
DLL4	54567	broad.mit.edu	37	15	41222831	41222831	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:41222831C>T	ENST00000249749.5	+	3	621	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	115					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGGGTACCTTCTCGCTCATCA	0.642000											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	0.000602	0	0
MPP7	143098	broad.mit.edu	37	10	28491177	28491177	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:28491177G>C	ENST00000337532.5	-	4	337	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	MPP7_ENST00000375732.1_Missense_Mutation_p.L21V|MPP7_ENST00000540098.1_Missense_Mutation_p.L21V|MPP7_ENST00000375719.3_Missense_Mutation_p.L21V|MPP7_ENST00000445954.2_Intron|MPP7_ENST00000481244.1_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	21	L27 1.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGGCTGGCAGAGCAGCCAAC	0.423000													13	36					0	0	0.013537	0	0
RIMS2	9699	broad.mit.edu	37	8	104897674	104897674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:104897674C>T	ENST00000507740.1	+	2	507	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	RIMS2_ENST00000436393.2_Nonsense_Mutation_p.Q61*|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Q91*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Q283*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	314	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACATGAACCTCAGTTTTATGA	0.398000										HNSCC(12;0.0054)			17	29					0	0	0.004990	0	0
MX1	4599	broad.mit.edu	37	21	42821099	42821099	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:42821099G>C	ENST00000398600.2	+	16	2334	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	MX1_ENST00000455164.2_Missense_Mutation_p.E437Q|MX1_ENST00000288383.6_Missense_Mutation_p.E414Q|MX1_ENST00000398598.3_Missense_Mutation_p.E437Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	437					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCAGAAATTTGAAAATCAGTA	0.358000													20	56					0	0	0.007413	0	0
C9orf96	169436	broad.mit.edu	37	9	136260834	136260834	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:136260834C>A	ENST00000371957.3	+	9	917	c.810C>A	c.(808-810)ttC>ttA	p.F270L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	270	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGAAACCTTCAGGAATCTTC	0.527000													7	40					8.12818e-05	8.74929e-05	0.001984	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996428	19996428	+	Silent	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:19996428T>C	ENST00000391403.2	-	1	1450	c.1347A>G	c.(1345-1347)gaA>gaG	p.E449E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	449						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGTGAGCATTTTCTTTCCTTA	0.313000													14	73					0	0	0.001855	0	0
SLC35G1	159371	broad.mit.edu	37	10	95661187	95661187	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:95661187C>G	ENST00000371408.3	+	3	1096	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L	SLC35G1_ENST00000427197.1_Silent_p.L346L			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	346	DUF6 2.					integral to membrane											GTGGTGCTCTCTGCGTAGTAG	0.393000													13	51					0	0	0.001855	0	0
GNPTAB	79158	broad.mit.edu	37	12	102154948	102154948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:102154948C>T	ENST00000299314.7	-	15	3354	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1031	EF-hand.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGCCAGTGTTCGGATTTCTCT	0.363000													14	42					0	0	0.002450	0	0
MPP5	64398	broad.mit.edu	37	14	67768754	67768754	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:67768754G>C	ENST00000261681.4	+	6	1381	c.720G>C	c.(718-720)gaG>gaC	p.E240D	MPP5_ENST00000555925.1_Missense_Mutation_p.E206D	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	240	Interaction with LIN7C (By similarity).				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTACAGATGAGAGAGTTTATG	0.413000													10	34					0	0	0.008291	0	0
NDUFV2	4729	broad.mit.edu	37	18	9117862	9117862	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:9117862G>C	ENST00000400033.1	+	3	207	c.90G>C	c.(88-90)aaG>aaC	p.K30N	RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.K27N			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	27					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	ATTTGCATAAGACAGTTATGC	0.289000													38	20					0	0	0.006230	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368708	86368708	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:86368708C>T	ENST00000400286.2	-	2	2534	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	646						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCATTTGCTCATCTACTTGT	0.428000													20	101					0	0	0.007413	0	0
VIL1	7429	broad.mit.edu	37	2	219305492	219305492	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:219305492C>G	ENST00000248444.5	+	19	2365	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	VIL1_ENST00000392114.2_Silent_p.L448L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	759	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCAACCTCAGTTCTGGGC	0.557000													20	11					0	0	0.008871	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966888	58966888	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:58966888G>A	ENST00000391696.1	+	3	1479	c.547G>A	c.(547-549)Gag>Aag	p.E183K	ZNF324B_ENST00000336614.4_Missense_Mutation_p.E193K|ZNF324B_ENST00000545523.1_Missense_Mutation_p.E193K			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGGACGCCTGAGCGGCAGAA	0.672000													7	27					0	0	0.001984	0	0
CRK	1398	broad.mit.edu	37	17	1340297	1340297	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:1340297C>G	ENST00000300574.2	-	2	534	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000574295.1_Missense_Mutation_p.E132Q|CRK_ENST00000398970.5_Missense_Mutation_p.E132Q	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	132	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TCCGCCTCCTCCTGCCTGAGA	0.458000													24	74					0	0	0.004656	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004092	102004092	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:102004092G>A	ENST00000372735.1	+	4	754	c.169G>A	c.(169-171)Gag>Aag	p.E57K	BHLHB9_ENST00000448867.1_Missense_Mutation_p.E57K|BHLHB9_ENST00000447531.1_Missense_Mutation_p.E57K|BHLHB9_ENST00000457056.1_Missense_Mutation_p.E57K|BHLHB9_ENST00000361229.4_Missense_Mutation_p.E57K			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	57						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCAGTAGCAGAGATGAAGGC	0.522000													13	92					0	0	0.001855	0	0
PTPRC	5788	broad.mit.edu	37	1	198723443	198723443	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:198723443C>G	ENST00000367376.2	+	32	3720	c.3549C>G	c.(3547-3549)ctC>ctG	p.L1183L	PTPRC_ENST00000594404.1_Silent_p.L1022L|PTPRC_ENST00000348564.6_Silent_p.L1024L|PTPRC_ENST00000442510.2_Silent_p.L1185L|PTPRC_ENST00000352140.3_Silent_p.L1135L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1183	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGTTAAATCTCTTAGAAAGTG	0.383000													24	57					0	0	0.003330	0	0
PRPF18	8559	broad.mit.edu	37	10	13655815	13655815	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:13655815G>A	ENST00000378572.3	+	7	814	c.654G>A	c.(652-654)ctG>ctA	p.L218L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	218					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGGGTAAACTGAACAGTGCGA	0.413000													6	31					0	0	0.001984	0	0
SP1	6667	broad.mit.edu	37	12	53804935	53804935	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:53804935G>C	ENST00000426431.2	+	6	2308	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	SP1_ENST00000327443.4_Missense_Mutation_p.E757Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	757	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CATCTGTCCAGAGGGCATTGC	0.547000													18	71					0	0	0.010504	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107230	27107230	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:27107230C>G	ENST00000354348.2	+	1	155	c.143C>G	c.(142-144)tCt>tGt	p.S48C	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						AAGCGCATTTCTGGCCTCATC	0.637000			T	BCL6	NHL								33	41					0	0	0.009535	0	0
ZNF543	125919	broad.mit.edu	37	19	57839521	57839521	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:57839521G>A	ENST00000321545.4	+	4	1036	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCACAGAGTGTGGGAA	0.458000													13	48					0	0	0.001855	0	0
XPOT	11260	broad.mit.edu	37	12	64813958	64813958	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:64813958G>A	ENST00000332707.5	+	7	1127	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	200	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACTAATTCTGAAGTGACGTG	0.358000													13	74					0	0	0.001855	0	0
CHD9	80205	broad.mit.edu	37	16	53279278	53279278	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:53279278C>T	ENST00000566029.1	+	14	3294	c.3085C>T	c.(3085-3087)Ctc>Ttc	p.L1029F	CHD9_ENST00000564845.1_Missense_Mutation_p.L1029F|CHD9_ENST00000447540.1_Missense_Mutation_p.L1029F|CHD9_ENST00000398510.3_Missense_Mutation_p.L1029F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1029	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACCCCTCTCCAAAATAC	0.353000													3	0					0	0	0.004672	0	0
ETV1	2115	broad.mit.edu	37	7	13978849	13978849	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:13978849C>T	ENST00000343495.5	-	6	942	c.204G>A	c.(202-204)ctG>ctA	p.L68L	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Silent_p.L46L|ETV1_ENST00000405358.4_Silent_p.L100L|ETV1_ENST00000403527.1_Silent_p.L46L|ETV1_ENST00000403685.1_Silent_p.L68L|ETV1_ENST00000405192.2_Silent_p.L86L|ETV1_ENST00000420159.2_Silent_p.L28L|ETV1_ENST00000430479.1_Silent_p.L86L|ETV1_ENST00000405218.2_Silent_p.L86L|ETV1_ENST00000242066.5_Silent_p.L68L			P50549	ETV1_HUMAN	ets variant 1	86					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTGATTTTCAGTGGCAGGC	0.388000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								13	39					0	0	0.001855	0	0
APOBR	55911	broad.mit.edu	37	16	28508289	28508289	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:28508289G>A	ENST00000564831.1	+	2	1960	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	APOBR_ENST00000431282.1_Missense_Mutation_p.D634N|APOBR_ENST00000328423.5_Missense_Mutation_p.D634N	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	634	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGATGCGGCCGATGGCGAGCA	0.622000													3	6					0	0	0.004672	0	0
TANGO6	79613	broad.mit.edu	37	16	68961657	68961657	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:68961657C>T	ENST00000261778.1	+	13	2326	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CAGAAAAGATCTGGAAGGGAA	0.507000													32	200					0	0	0.008361	0	0
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:201982405G>C	ENST00000359651.3	+	6	3976	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q|ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632000													29	32					0	0	0.008361	0	0
IL4R	3566	broad.mit.edu	37	16	27375139	27375139	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:27375139G>A	ENST00000395762.2	+	11	2725	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	IL4R_ENST00000170630.2_Missense_Mutation_p.M822I|IL4R_ENST00000380922.3_Missense_Mutation_p.M807I|IL4R_ENST00000543915.2_Missense_Mutation_p.M822I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	822					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCACATACATGAGGGTCTCTT	0.542000													50	57					0	0	0.014410	0	0
AXL	558	broad.mit.edu	37	19	41759558	41759558	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:41759558G>A	ENST00000301178.4	+	17	2171	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	AXL_ENST00000359092.3_Missense_Mutation_p.E652K|AXL_ENST00000593513.1_Missense_Mutation_p.E393K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	661	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGTGGCATGGAGTATCTGAG	0.582000													5	11					0	0	0.001168	0	0
RANBP6	26953	broad.mit.edu	37	9	6013240	6013240	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:6013240C>T	ENST00000259569.5	-	1	2378	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	790					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGGCAACCATCTCCCATAACT	0.388000													33	116					0	0	0.013726	0	0
SHH	6469	broad.mit.edu	37	7	155599064	155599064	+	Missense_Mutation	SNP	C	C	T	rs141313715		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:155599064C>T	ENST00000297261.2	-	2	638	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	163					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCGCCAGGCGGGCCAGCAT	0.642000													28	36					0	0	0.007291	0	0
FYB	2533	broad.mit.edu	37	5	39202281	39202281	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:39202281C>G	ENST00000351578.6	-	2	972	c.782G>C	c.(781-783)gGa>gCa	p.G261A	FYB_ENST00000540520.1_Missense_Mutation_p.G271A|FYB_ENST00000505428.1_Missense_Mutation_p.G261A|FYB_ENST00000515010.1_Missense_Mutation_p.G261A|FYB_ENST00000512982.1_Missense_Mutation_p.G261A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	261					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CAAAACCACTCCAGGAAAGGG	0.488000													4	140					0	0	0.009096	0	0
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617000													6	51					0	0	0.001168	0	0
COL7A1	1294	broad.mit.edu	37	3	48618718	48618718	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:48618718C>T	ENST00000328333.8	-	51	4981	c.4874G>A	c.(4873-4875)gGa>gAa	p.G1625E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1625E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1625	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAACAGGTCCTGGGGGGCC	0.642000													7	24					0	0	0.001984	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802108	34802108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:34802108C>G	ENST00000591619.1	+	10	2426	c.1640C>G	c.(1639-1641)tCa>tGa	p.S547*	KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.S551*			Q86T90	K1328_HUMAN	KIAA1328	551										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CCTCTAAAATCAACCCGGAAG	0.468000													15	7					0	0	0.003163	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9548250	9548250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:9548250C>G	ENST00000360635.3	-	6	1269	c.373G>C	c.(373-375)Gat>Cat	p.D125H	ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.D125H|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.D125H|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.D125H|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.D125H|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.D125H			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	125	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		ACATATTGATCTGATGTTGAT	0.333000													34	17					0	0	0.003271	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410684	121410684	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:121410684C>G	ENST00000393667.3	-	14	7637	c.7527G>C	c.(7525-7527)gaG>gaC	p.E2509D	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2504D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2504					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTTATTATTCTCTGCAGCAG	0.418000													112	113					0	0	0.014410	0	0
ABCC6	368	broad.mit.edu	37	16	16259687	16259687	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:16259687G>T	ENST00000205557.7	-	23	3128	c.3099C>A	c.(3097-3099)atC>atA	p.I1033I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1033	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAAAGAAGCTGATGGGAGATC	0.592000													10	34					0.00621372	0.00660602	0.006214	1	0
ZNF280A	129025	broad.mit.edu	37	22	22869482	22869482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:22869482C>T	ENST00000302097.3	-	2	725	c.473G>A	c.(472-474)aGa>aAa	p.R158K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTCTCATTTCTGCCTCCTCC	0.463000													36	55					0	0	0.004878	0	0
LRP1	4035	broad.mit.edu	37	12	57587017	57587017	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:57587017C>G	ENST00000243077.3	+	46	8080	c.7614C>G	c.(7612-7614)atC>atG	p.I2538M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2538	LDL-receptor class A 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGAGTGCATCAACTTCAGCC	0.597000													15	57					0	0	0.003163	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354269	45354269	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:45354269C>G	ENST00000359271.2	+	2	844	c.594C>G	c.(592-594)ctC>ctG	p.L198L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	198						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACAAGGACCTCATCCCACTCC	0.627000													43	37					0	0	0.008740	0	0
TMEM130	222865	broad.mit.edu	37	7	98453654	98453654	+	Missense_Mutation	SNP	G	G	A	rs149015420		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:98453654G>A	ENST00000450876.1	-	4	1767	c.452C>T	c.(451-453)tCg>tTg	p.S151L	TMEM130_ENST00000345589.4_Missense_Mutation_p.S133L|TMEM130_ENST00000416379.2_Missense_Mutation_p.S235L|TMEM130_ENST00000546258.1_Missense_Mutation_p.S216L|TMEM130_ENST00000339375.4_Missense_Mutation_p.S235L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	235	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCTTCAGCGAGGCGGAGAA	0.632000													15	17					0	0	0.007413	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904150	144904150	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:144904150C>A	ENST00000370490.1	+	1	4462	c.207C>A	c.(205-207)ctC>ctA	p.L69L	SLITRK2_ENST00000428560.2_Silent_p.L69L|SLITRK2_ENST00000447897.2_Silent_p.L69L|SLITRK2_ENST00000434188.2_Silent_p.L69L|SLITRK2_ENST00000413937.2_Silent_p.L69L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	69						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTTTTCTCAATGGAAACC	0.428000													20	60					7.45023e-12	8.30006e-12	0.010504	1	0
LINGO4	339398	broad.mit.edu	37	1	151774080	151774080	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:151774080G>A	ENST00000368820.3	-	2	2038	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	367	LRRCT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCAGCCAGAGGAGGCGGC	0.607000													20	46					0	0	0.008871	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192078	45192078	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:45192078G>A	ENST00000279027.4	-	12	1625	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	SLC13A3_ENST00000396360.1_Missense_Mutation_p.S454F|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S489F|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S454F|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S486F|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S489F|SLC13A3_ENST00000435032.1_Missense_Mutation_p.S121F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	536						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.S536Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAGTGTCCAGAGGCGAAGGC	0.622000													4	30					0	0	0.009096	0	0
GNL3	26354	broad.mit.edu	37	3	52726939	52726939	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:52726939G>C	ENST00000394799.2	+	10	1095	c.885G>C	c.(883-885)ccG>ccC	p.P295P	GNL3_ENST00000418458.1_Silent_p.P307P	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	307	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TAGATAGTCCGAGCTTCATCG	0.483000													21	51					0	0	0.008871	0	0
UBE2R2	54926	broad.mit.edu	37	9	33886926	33886926	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:33886926C>T	ENST00000263228.3	+	2	416	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	75					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CACCTACCTTCAGATTCTTGA	0.313000													21	61					0	0	0.003954	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061846	64061846	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:64061846G>C	ENST00000324472.4	-	1	511	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	110					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCGATGCCGAGAGTGGTTCTG	0.582000													28	64					0	0	0.006320	0	0
AP3B2	8120	broad.mit.edu	37	15	83333623	83333623	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:83333623C>T	ENST00000261722.3	-	17	2251	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.E701K|AP3B2_ENST00000535348.1_Missense_Mutation_p.E650K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	682	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GACTCCCCCTCAGAGTCCGAG	0.562000													4	5					0	0	0.009096	0	0
LRSAM1	90678	broad.mit.edu	37	9	130223461	130223461	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:130223461G>A	ENST00000323301.4	+	7	935	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	LRSAM1_ENST00000373324.4_Missense_Mutation_p.V111M|LRSAM1_ENST00000373322.1_Missense_Mutation_p.V111M|LRSAM1_ENST00000300417.6_Missense_Mutation_p.V111M	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	111					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GGTCTTAAACGTGGAAAGGAA	0.532000													24	32					0	0	0.003954	0	0
ENTPD1	953	broad.mit.edu	37	10	97605351	97605351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:97605351C>T	ENST00000371203.5	+	5	984	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Nonsense_Mutation_p.Q271*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q278*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q133*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q163*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q283*	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	271					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CAAGGACATTCAGGCAAGTAT	0.478000													11	54					0	0	0.008291	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110479768	110479768	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:110479768C>G	ENST00000260283.4	-	9	999	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E213Q|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E203Q|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E213Q|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E216Q|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E203Q	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	239	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAATCTCTCTCAGAGCCCTTA	0.363000													18	43					0	0	0.008871	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074713	1074713	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:1074713C>T	ENST00000264930.5	-	16	2084	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	681					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACCGTGCTCCACGCGCAGC	0.647000													22	34					0	0	0.003330	0	0
CCNA2	890	broad.mit.edu	37	4	122740632	122740632	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:122740632C>G	ENST00000274026.5	-	5	1200	c.897G>C	c.(895-897)ttG>ttC	p.L299F		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	299					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TAAGGACTTTCAAAACTAGAT	0.388000													10	62					0	0	0.010729	0	0
TRIT1	54802	broad.mit.edu	37	1	40307540	40307540	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:40307540C>T	ENST00000316891.5	-	11	1294	c.1280G>A	c.(1279-1281)aGa>aAa	p.R427K	TRIT1_ENST00000537223.1_Missense_Mutation_p.R123K|TRIT1_ENST00000441669.2_Missense_Mutation_p.R345K|TRIT1_ENST00000541099.1_Missense_Mutation_p.R45K|TRIT1_ENST00000537440.1_Missense_Mutation_p.R123K|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_Missense_Mutation_p.R181K|TRIT1_ENST00000372818.1_Missense_Mutation_p.R401K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	427					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCCAATCTTCTTCTTTTCTT	0.388000													26	93					0	0	0.004656	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348646	89348646	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:89348646C>G	ENST00000301030.4	-	9	4764	c.4304G>C	c.(4303-4305)aGa>aCa	p.R1435T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1435T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1435	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAAGGTTCTCTCTCGGAATC	0.358000													44	69					0	0	0.011902	0	0
CLVS2	134829	broad.mit.edu	37	6	123332258	123332258	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:123332258C>A	ENST00000275162.5	+	3	1853	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	CLVS2_ENST00000368438.1_Missense_Mutation_p.S27Y	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGCAAGCCTCTAAACTCACA	0.403000													35	13					1.57351e-24	1.7787e-24	0.003755	1	0
MYH11	4629	broad.mit.edu	37	16	15812202	15812202	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:15812202C>G	ENST00000452625.2	-	38	5373	c.5286G>C	c.(5284-5286)atG>atC	p.M1762I	MYH11_ENST00000576790.2_Missense_Mutation_p.M1755I|MYH11_ENST00000300036.5_Missense_Mutation_p.M1755I|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.M1762I	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1755					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCGGTCGCTCATGGCCTCCA	0.667000			T	CBFB	AML								6	14					0	0	0.004482	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968562	99968562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:99968562G>T	ENST00000298999.3	+	5	994	c.691G>T	c.(691-693)Gag>Tag	p.E231*	R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E231*|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287			R3H domain and coiled-coil containing 1-like																		CATGAAACCTGAGAATATGAT	0.358000													8	21					0.00307968	0.00328126	0.003080	1	0
USP35	57558	broad.mit.edu	37	11	77909064	77909064	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:77909064C>T	ENST00000529308.1	+	3	1017	c.756C>T	c.(754-756)ctC>ctT	p.L252L	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	252					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCGGAACCTCAGCAATGATG	0.612000													14	45					0	0	0.002450	0	0
C12orf5	57103	broad.mit.edu	37	12	4440448	4440448	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:4440448G>A	ENST00000179259.4	+	2	102	c.35G>A	c.(34-36)gGa>gAa	p.G12E		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	12						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TATTTTAGTGGAGAAACAAGA	0.328000													7	29					0	0	0.004482	0	0
DOT1L	84444	broad.mit.edu	37	19	2222543	2222543	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:2222543C>T	ENST00000398665.3	+	24	3411	c.3375C>T	c.(3373-3375)ctC>ctT	p.L1125L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1125						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GGTCTCCCCTCAACCTCAACT	0.677000													7	12					0	0	0.001984	0	0
AIFM1	9131	broad.mit.edu	37	X	129281744	129281744	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:129281744G>A	ENST00000287295.3	-	4	687	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	AIFM1_ENST00000319908.3_Missense_Mutation_p.R149W|AIFM1_ENST00000535724.1_Missense_Mutation_p.R66W|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	153	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCAGGATCCCGAGCCCGGATG	0.517000													56	105					0	0	0.014410	0	0
LRRC14B	389257	broad.mit.edu	37	5	195453	195453	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:195453C>G	ENST00000328278.3	+	2	1558	c.1530C>G	c.(1528-1530)ctC>ctG	p.L510L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	510										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCAGAGCACTCAAACAAATAG	0.493000													10	21					0	0	0.008291	0	0
FRG1B	284802	broad.mit.edu	37	20	29632660	29632660	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:29632660G>A	ENST00000278882.3	+	8	855	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGTAAAGAAGAGAGTAAAAT	0.318000													21	769					0	0	0.006320	0	0
TBCD	6904	broad.mit.edu	37	17	80887029	80887029	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:80887029G>A	ENST00000355528.4	+	31	2864	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	TBCD_ENST00000539345.2_Missense_Mutation_p.E912K	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	912					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCAGGCCAGTGAGAAGATTGA	0.607000													9	32					0	0	0.006214	0	0
TMC6	11322	broad.mit.edu	37	17	76113593	76113593	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:76113593C>G	ENST00000590602.1	-	17	2313	c.2154G>C	c.(2152-2154)ctG>ctC	p.L718L	TMC6_ENST00000591436.1_Silent_p.L297L|TMC6_ENST00000392467.3_Silent_p.L718L|TMC6_ENST00000322914.3_Silent_p.L718L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Silent_p.L297L|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	718						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGTTTTCCATCAGGTACCGGT	0.687000													9	14					0	0	0.004482	0	0
MUC17	140453	broad.mit.edu	37	7	100683527	100683527	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:100683527G>C	ENST00000306151.4	+	3	8894	c.8830G>C	c.(8830-8832)Gag>Cag	p.E2944Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2944	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCGGTTCTGAGGCTAGCAC	0.488000													67	303					0	0	0.014410	0	0
KMT2C	58508	broad.mit.edu	37	7	151873559	151873559	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:151873559G>T	ENST00000355193.2	-	38	9197	c.8979C>A	c.(8977-8979)ctC>ctA	p.L2993L	KMT2C_ENST00000262189.6_Silent_p.L2993L					lysine (K)-specific methyltransferase 2C																		GACCTGGAATGAGCCCTGGGT	0.478000													9	42					2.17888e-05	2.35924e-05	0.006214	1	0
HACL1	26061	broad.mit.edu	37	3	15642612	15642612	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:15642612C>T	ENST00000321169.5	-	2	538	c.171G>A	c.(169-171)atG>atA	p.M57I	HACL1_ENST00000457447.2_Missense_Mutation_p.M57I|HACL1_ENST00000435217.2_Missense_Mutation_p.M57I|HACL1_ENST00000451445.2_Missense_Mutation_p.M57I|HACL1_ENST00000456194.2_Missense_Mutation_p.M57I	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	57					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCTCATTCCTCATCCCGATGT	0.507000													4	29					0	0	0.009096	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857853	101857853	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:101857853C>A	ENST00000604957.1	+	1	3406	c.784C>A	c.(784-786)Cga>Aga	p.R262R	ARMCX5_ENST00000541409.1_Silent_p.R262R|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.R262R|ARMCX5_ENST00000372742.1_Silent_p.R262R|ARMCX5_ENST00000536530.1_Silent_p.R262R|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Silent_p.R262R	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	262							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TCTGGGGATTCGACCTTTGAC	0.468000													15	86					8.00594e-06	8.69437e-06	0.007413	1	0
PLK3	1263	broad.mit.edu	37	1	45270161	45270161	+	Missense_Mutation	SNP	C	C	T	rs17880829		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:45270161C>T	ENST00000372201.4	+	12	1732	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	498	POLO box 1.		S -> L (in dbSNP:rs17880829).			membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGGCCCTGTCGGCCAACAGA	0.562000													15	72					0	0	0.002450	0	0
DCHS1	8642	broad.mit.edu	37	11	6643176	6643176	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:6643176G>A	ENST00000299441.3	-	21	10142	c.9731C>T	c.(9730-9732)tCc>tTc	p.S3244F	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3244					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGACAGGGAGCCTTCATG	0.642000													6	11					0	0	0.001168	0	0
RYR3	6263	broad.mit.edu	37	15	34130053	34130053	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:34130053G>A	ENST00000389232.4	+	89	11942	c.11872G>A	c.(11872-11874)Gag>Aag	p.E3958K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3953K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3958					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACGCAGTCAGAGATTGACTT	0.433000													13	54					0	0	0.013537	0	0
OTUB1	55611	broad.mit.edu	37	11	63764070	63764070	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:63764070C>T	ENST00000538426.1	+	4	332	c.288C>T	c.(286-288)ttC>ttT	p.F96F	OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543004.1_Silent_p.F105F|OTUB1_ENST00000543988.1_Silent_p.F66F|OTUB1_ENST00000422031.2_Silent_p.F133F|OTUB1_ENST00000535715.1_Silent_p.F96F|OTUB1_ENST00000428192.2_Silent_p.F96F	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	96	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ATCGGGCTTTCGGATTCTCCC	0.592000													12	28					0	0	0.010729	0	0
DMWD	1762	broad.mit.edu	37	19	46289456	46289456	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:46289456G>A	ENST00000270223.6	-	3	1343	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	DMWD_ENST00000377735.3_Missense_Mutation_p.S433L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	433					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTGGCCCGCCGAGCCAAAGCG	0.706000													6	18					0	0	0.003080	0	0
SUSD4	55061	broad.mit.edu	37	1	223396886	223396886	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:223396886C>G	ENST00000343846.3	-	7	1782	c.1149G>C	c.(1147-1149)gtG>gtC	p.V383V	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.V383V|SUSD4_ENST00000494793.2_Silent_p.V383V|SUSD4_ENST00000484758.2_Silent_p.V314V|SUSD4_ENST00000454695.2_Silent_p.V223V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	383						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCGCCACTCACAGCTTCGT	0.647000													4	11					0	0	0.009096	0	0
NUP107	57122	broad.mit.edu	37	12	69135668	69135668	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:69135668C>G	ENST00000229179.4	+	27	2910	c.2578C>G	c.(2578-2580)Ctg>Gtg	p.L860V	NUP107_ENST00000539906.1_Missense_Mutation_p.L831V|NUP107_ENST00000378905.2_Missense_Mutation_p.L621V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	860					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTGTGTTTTCTGCTTCATAC	0.408000													14	65					0	0	0.001855	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88193849	88193849	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:88193849G>T	ENST00000357081.3	-	24	3472	c.3328C>A	c.(3328-3330)Cag>Aag	p.Q1110K	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q1122K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q1070K|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1110					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TATTTTCCCTGATCACAGCCA	0.328000													35	59					1.03484e-13	1.1564e-13	0.005524	1	0
CDKL5	6792	broad.mit.edu	37	X	18622976	18622976	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:18622976C>T	ENST00000379989.3	+	13	2217	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	CDKL5_ENST00000379996.3_Silent_p.L644L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	644					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCCTGCAACTCTTGTCACCCC	0.527000													39	136					0	0	0.007835	0	0
MROH8	140699	broad.mit.edu	37	20	35769570	35769570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:35769570C>T	ENST00000400441.3	-	12	1482	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	MROH8_ENST00000441008.2_Missense_Mutation_p.E481K|MROH8_ENST00000217333.8_Intron					maestro heat-like repeat family member 8																		TTTACCTTCTCAAATTGGGAC	0.438000													4	17					0	0	0.001168	0	0
BCL11A	53335	broad.mit.edu	37	2	60695963	60695963	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:60695963G>A	ENST00000335712.6	-	3	618	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000359629.5_Missense_Mutation_p.L131F|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.L131F|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	131	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGTGCAGAAGTTTATCTGTG	0.453000			T	IGH@	B-CLL								11	16					0	0	0.008291	0	0
CNST	163882	broad.mit.edu	37	1	246811160	246811160	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:246811160G>C	ENST00000366513.4	+	9	1926	c.1657G>C	c.(1657-1659)Gaa>Caa	p.E553Q	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.E553Q	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	553					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGCCTTTTAGAAGGATGTTT	0.428000													60	83					0	0	0.014410	0	0
LRRC19	64922	broad.mit.edu	37	9	26999666	26999666	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:26999666G>C	ENST00000380055.5	-	2	137	c.27C>G	c.(25-27)ctC>ctG	p.L9L	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	9						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GGGGCCAAAAGAGGATTGTGA	0.308000													9	19					0	0	0.008291	0	0
MAN1A2	10905	broad.mit.edu	37	1	118009029	118009029	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:118009029G>C	ENST00000356554.3	+	8	1883	c.1148G>C	c.(1147-1149)aGa>aCa	p.R383T		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	383					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTGAACCCCAGAACAGGGCGC	0.348000													8	23					0	0	0.003080	0	0
PATZ1	23598	broad.mit.edu	37	22	31740604	31740604	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31740604G>C	ENST00000266269.5	-	1	1614	c.985C>G	c.(985-987)Ccg>Gcg	p.P329A	PATZ1_ENST00000405309.3_Missense_Mutation_p.P329A|PATZ1_ENST00000351933.4_Missense_Mutation_p.P329A|PATZ1_ENST00000215919.3_Missense_Mutation_p.P329A	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	329					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCAGCCTCGGAGGAGGAAGG	0.622000													20	16					0	0	0.008871	0	0
GGA3	23163	broad.mit.edu	37	17	73235514	73235514	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:73235514C>T	ENST00000245541.6	-	14	1938	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P	GGA3_ENST00000582717.1_Silent_p.P502P|GGA3_ENST00000538886.1_Silent_p.P452P|GGA3_ENST00000578348.1_Silent_p.P452P|GGA3_ENST00000582486.1_Silent_p.P502P|GGA3_ENST00000351904.7_Silent_p.P541P	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	574	Unstructured hinge.		P -> L (in a breast cancer sample; somatic mutation).		intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGCCCCTTCGGGGGGCTGC	0.682000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	0.000602	0	0
WDR47	22911	broad.mit.edu	37	1	109533888	109533888	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:109533888C>A	ENST00000357672.3	-	8	2046	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	WDR47_ENST00000369962.3_Silent_p.S585S|WDR47_ENST00000400794.3_Silent_p.S593S|WDR47_ENST00000369965.4_Silent_p.S586S|WDR47_ENST00000361054.3_Silent_p.S557S			O94967	WDR47_HUMAN	WD repeat domain 47	585										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTCCCCTTTCGACCTTGAAA	0.378000													15	58					9.16793e-09	1.00909e-08	0.004990	1	0
BAMBI	25805	broad.mit.edu	37	10	28970347	28970347	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:28970347C>T	ENST00000375533.3	+	2	793	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	79					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CGACAGACATCTGCCAAGCCA	0.527000													21	51					0	0	0.014323	0	0
SALL4	57167	broad.mit.edu	37	20	50408479	50408479	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:50408479C>A	ENST00000217086.4	-	2	654	c.543G>T	c.(541-543)gtG>gtT	p.V181V	SALL4_ENST00000395997.3_Silent_p.V181V|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	181					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGCAAGGTCACATTAGTGT	0.602000													90	110					7.49063e-41	8.52001e-41	0.014410	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812775	31812775	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:31812775G>A	ENST00000334067.3	+	1	179	c.130G>A	c.(130-132)Ggc>Agc	p.G44S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	44						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGCCAACTGGGCTCCTCTCT	0.493000													27	51					0	0	0.006320	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505193	113505193	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:113505193C>G	ENST00000273398.3	+	6	787	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L194V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	227					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAATCATCCTCTGTTGACTGG	0.443000													23	162					0	0	0.002780	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548586	102548586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:102548586C>G	ENST00000334701.7	-	11	2598	c.2317G>C	c.(2317-2319)Gag>Cag	p.E773Q	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E651Q	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	651					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTATCAGCCTCTGCCTTTTGC	0.463000													9	145					0	0	0.006214	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302346	15302346	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:15302346C>T	ENST00000263388.2	-	6	1000	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	309	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)			CTGCAGCTCTCGCCTGTCCAG	0.602000													9	14					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761793	77761793	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:77761793C>G	ENST00000521891.2	+	8	4139	c.3691C>G	c.(3691-3693)Cgt>Ggt	p.R1231G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1205G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1186G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1186G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGACCAAAGTCGTATCCAGAT	0.423000										HNSCC(33;0.089)			11	42					0	0	0.013537	0	0
SCML2	10389	broad.mit.edu	37	X	18343043	18343043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:18343043G>T	ENST00000251900.4	-	4	305	c.146C>A	c.(145-147)tCa>tAa	p.S49*		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	49					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GAAGCACTCTGAAGGAGCACT	0.383000													11	79					1.5842e-08	1.74238e-08	0.001855	1	0
NLRC4	58484	broad.mit.edu	37	2	32475267	32475267	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475267C>G	ENST00000404025.2	-	5	2154	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.E556Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E556Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	556					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGCCACACTCTACAAAGGAA	0.403000													12	74					0	0	0.010729	0	0
MAPK6	5597	broad.mit.edu	37	15	52356491	52356491	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:52356491C>G	ENST00000261845.5	+	6	2267	c.1460C>G	c.(1459-1461)tCt>tGt	p.S487C	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	487					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAAGAAAAATCTGATAAGAAA	0.368000													12	29					0	0	0.010729	0	0
TDRD9	122402	broad.mit.edu	37	14	104490993	104490993	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:104490993C>T	ENST00000409874.4	+	25	2742	c.2694C>T	c.(2692-2694)ctC>ctT	p.L898L	TDRD9_ENST00000339063.5_Silent_p.L898L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	898					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTACAGATCTCCTTCTAACTA	0.393000													24	30					0	0	0.003330	0	0
NSD1	64324	broad.mit.edu	37	5	176636970	176636970	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:176636970G>A	ENST00000439151.2	+	5	1615	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	NSD1_ENST00000347982.4_Missense_Mutation_p.E255K|NSD1_ENST00000354179.4_Missense_Mutation_p.E255K|NSD1_ENST00000361032.4_Missense_Mutation_p.E421K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACATAAAGATGAACGGAGGGG	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	19					0	0	0.003755	0	0
MYL6	4637	broad.mit.edu	37	12	56552414	56552414	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:56552414G>C	ENST00000536128.1	+	1	269	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	MYL6_ENST00000548293.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.E77Q|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000551589.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGCTGGGATAGAAACTCGGGG	0.562000													52	113					0	0	0.014410	0	0
TTC32	130502	broad.mit.edu	37	2	20101478	20101478	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:20101478C>G	ENST00000333610.3	-	1	269	c.138G>C	c.(136-138)gaG>gaC	p.E46D	TTC32_ENST00000402414.1_Missense_Mutation_p.E46D	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	46							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCGGGACTCTCGTCGCTGG	0.642000													41	29					0	0	0.006230	0	0
SETD3	84193	broad.mit.edu	37	14	99871582	99871582	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:99871582C>T	ENST00000331768.5	-	10	1210	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	351					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GCCTTCATGGCGTAGAGTCTG	0.463000													19	117					0	0	0.007413	0	0
KRCC1	51315	broad.mit.edu	37	2	88327876	88327876	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:88327876C>G	ENST00000347055.3	-	4	600	c.207G>C	c.(205-207)caG>caC	p.Q69H		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	69										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGGGTAGGTCTGGATGGTTT	0.463000													5	46					0	0	0.000602	0	0
FMO5	2330	broad.mit.edu	37	1	146658815	146658815	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:146658815C>G	ENST00000254090.4	-	9	1654	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	422						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GGCGTTGGCTCTCCACATACC	0.473000													9	22					0	0	0.004482	0	0
SF3B2	10992	broad.mit.edu	37	11	65835711	65835711	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:65835711C>T	ENST00000528302.1	+	20	2526	c.2472C>T	c.(2470-2472)acC>acT	p.T824T	RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Silent_p.T841T			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	841					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGGCCATGACCCAGAAGTATG	0.587000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	26					0	0	0.009096	0	0
TLK1	9874	broad.mit.edu	37	2	171853231	171853231	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:171853231C>G	ENST00000442919.2	-	20	2527	c.1912G>C	c.(1912-1914)Gaa>Caa	p.E638Q	TLK1_ENST00000521943.1_Missense_Mutation_p.E638Q|TLK1_ENST00000431350.2_Missense_Mutation_p.E686Q|TLK1_ENST00000360843.3_Missense_Mutation_p.E707Q|TLK1_ENST00000434911.2_Missense_Mutation_p.E590Q	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	686	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTGTATTTTCTTGAAGAATG	0.303000													8	32					0	0	0.003080	0	0
HKR1	284459	broad.mit.edu	37	19	37854568	37854568	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:37854568G>C	ENST00000591471.1	+	9	2693	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	HKR1_ENST00000541583.2_Missense_Mutation_p.R563T|HKR1_ENST00000589392.1_Missense_Mutation_p.R606T|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.R351T|HKR1_ENST00000324411.4_Missense_Mutation_p.R624T|HKR1_ENST00000392153.3_Missense_Mutation_p.R605T			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	624					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCTCATTAGACACCAGAGG	0.507000													14	63					0	0	0.002450	0	0
GBP5	115362	broad.mit.edu	37	1	89735133	89735133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:89735133G>A	ENST00000343435.5	-	3	642	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q36*	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	36						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTACAGGTTGCGTAATGGCA	0.493000													38	117					0	0	0.006999	0	0
MBD5	55777	broad.mit.edu	37	2	149226305	149226305	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:149226305C>A	ENST00000407073.1	+	9	1790	c.793C>A	c.(793-795)Cct>Act	p.P265T	MBD5_ENST00000404807.1_Missense_Mutation_p.P265T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	265						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAATTCTAGTCCTATTCACCT	0.443000													54	56					1.72184e-34	1.9539e-34	0.014410	1	0
XIRP2	129446	broad.mit.edu	37	2	168101598	168101598	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:168101598G>C	ENST00000409195.1	+	9	3785	c.3696G>C	c.(3694-3696)caG>caC	p.Q1232H	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1010H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1232H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1057					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATATTCAGAAAGGCAATG	0.323000													6	36					0	0	0.001168	0	0
MAU2	23383	broad.mit.edu	37	19	19459713	19459713	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:19459713G>A	ENST00000262815.8	+	14	1363	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	MAU2_ENST00000392313.6_Missense_Mutation_p.E442K			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	442					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCTGCTGGAGAGGATCAA	0.602000													12	34					0	0	0.002450	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3651926	3651926	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:3651926G>A	ENST00000335312.3	-	8	1113	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S342L|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S342L|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S342L	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	342	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTCTCATCTGAGGTGCTCTG	0.652000													14	35					0	0	0.001855	0	0
ELP4	26610	broad.mit.edu	37	11	31616356	31616356	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:31616356G>A	ENST00000395934.2	+	4	428	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	ELP4_ENST00000350638.5_Missense_Mutation_p.E141K|ELP4_ENST00000379163.5_Missense_Mutation_p.E141K			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	141					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATGTAAAAAGGAATTTGATGA	0.303000													7	27					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179597845	179597845	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179597845C>T	ENST00000589042.1	-	55	16282	c.16058G>A	c.(16057-16059)cGa>cAa	p.R5353Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5036Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4109Q|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5036	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAATGTCTCGATCTGTGTG	0.443000													19	6					0	0	0.007413	0	0
IKBKG	8517	broad.mit.edu	37	X	153780359	153780359	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:153780359C>G	ENST00000393549.2	+	2	265	c.142C>G	c.(142-144)Cct>Gct	p.P48A	IKBKG_ENST00000369609.5_Missense_Mutation_p.P116A|IKBKG_ENST00000369601.3_Missense_Mutation_p.P48A|IKBKG_ENST00000369607.1_Missense_Mutation_p.P48A|IKBKG_ENST00000369606.4_Missense_Mutation_p.P48A|IKBKG_ENST00000263518.6_Missense_Mutation_p.P48A|IKBKG_ENST00000470142.1_Missense_Mutation_p.P48A|IKBKG_ENST00000455588.2_Missense_Mutation_p.P48A|IKBKG_ENST00000369602.3_Missense_Mutation_p.P48A			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	48	Interaction with CHUK/IKBKB.				activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGGCGCTCCTGAGACCCT	0.637000													55	70					0	0	0.014410	0	0
TCHH	7062	broad.mit.edu	37	1	152080115	152080115	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:152080115C>G	ENST00000368804.1	-	2	5577	c.5578G>C	c.(5578-5580)Gag>Cag	p.E1860Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1860	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGTTCCTCACGACGACTC	0.577000													36	71					0	0	0.004878	0	0
MUC4	4585	broad.mit.edu	37	3	195511098	195511098	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:195511098G>C	ENST00000463781.3	-	2	7812	c.7353C>G	c.(7351-7353)gtC>gtG	p.V2451V	MUC4_ENST00000475231.1_Silent_p.V2451V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	209					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)		AAGTGCTGGTGACAGGAAGAG	0.587000													2	0					0	0	0.004672	0	0
ATE1	11101	broad.mit.edu	37	10	123670502	123670502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:123670502G>A	ENST00000369043.3	-	5	588	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	ATE1_ENST00000224652.6_Nonsense_Mutation_p.Q168*|ATE1_ENST00000369040.3_Nonsense_Mutation_p.Q72*|ATE1_ENST00000543447.1_Nonsense_Mutation_p.Q53*|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Nonsense_Mutation_p.Q161*	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	168					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCTTGTGACTGAAGTAATTCC	0.378000													20	74					0	0	0.008871	0	0
CDH2	1000	broad.mit.edu	37	18	25591885	25591885	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:25591885C>T	ENST00000269141.3	-	4	894	c.471G>A	c.(469-471)caG>caA	p.Q157Q	CDH2_ENST00000399380.3_Silent_p.Q126Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	157					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTCTCTCTTCTGCCTTTGTA	0.438000													20	85					0	0	0.007413	0	0
CD79B	974	broad.mit.edu	37	17	62007163	62007163	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:62007163G>A	ENST00000006750.3	-	4	608	c.516C>T	c.(514-516)ttC>ttT	p.F172F	CD79B_ENST00000349817.2_Silent_p.F68F|CD79B_ENST00000392795.3_Silent_p.F173F	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	172					cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						GCACGATGATGAAGAGGATGA	0.587000			"""Mis, O"""		DLBCL								17	8					0	0	0.006122	0	0
CHL1	10752	broad.mit.edu	37	3	423911	423911	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:423911G>C	ENST00000256509.2	+	17	2568	c.1926G>C	c.(1924-1926)agG>agC	p.R642S	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.R626S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	626	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GACAGAACAGGAGTGTTCGGC	0.408000													3	33					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100683350	100683350	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:100683350G>C	ENST00000306151.4	+	3	8717	c.8653G>C	c.(8653-8655)Gag>Cag	p.E2885Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2885	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483000													87	341					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13714594	13714594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:13714594C>T	ENST00000265104.4	-	75	13149	c.13045G>A	c.(13045-13047)Gat>Aat	p.D4349N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4349					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D4349Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGGGTCTCATCCCCTCCACCA	0.587000									Kartagener syndrome				25	55					0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196674591	196674591	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:196674591G>C	ENST00000312428.6	-	52	9866	c.9766C>G	c.(9766-9768)Cag>Gag	p.Q3256E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3256					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAGAATCTGAAGCCTAAGG	0.313000													4	36					0	0	0.009096	0	0
MYADM	91663	broad.mit.edu	37	19	54377329	54377329	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54377329C>T	ENST00000391769.2	+	3	826	c.546C>T	c.(544-546)ttC>ttT	p.F182F	MYADM_ENST00000391770.4_Silent_p.F182F|MYADM_ENST00000391771.1_Silent_p.F182F|MYADM_ENST00000391768.2_Silent_p.F182F|MYADM_ENST00000336967.3_Silent_p.F182F	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	182	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGGAGACCTTCGTTGCCTGCA	0.647000													27	75					0	0	0.004656	0	0
HOXA11	3207	broad.mit.edu	37	7	27224432	27224432	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:27224432G>A	ENST00000006015.3	-	1	403	c.332C>T	c.(331-333)tCg>tTg	p.S111L	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	111					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GACGTTGGCCGAGCTCTTGGC	0.652000			T	NUP98	CML								103	34					0	0	0.014410	0	0
CACNA1B	774	broad.mit.edu	37	9	140941411	140941411	+	Missense_Mutation	SNP	C	C	T	rs149261457	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140941411C>T	ENST00000277549.5	+	22	3614	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	CACNA1B_ENST00000371372.1_Missense_Mutation_p.L1157F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1158F|CACNA1B_ENST00000545473.1_Missense_Mutation_p.L183F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1157F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1157F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1158F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1157					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGTGGTCATTCTCGTGGTCAT	0.652000													13	11					0	0	0.002450	0	0
MCM5	4174	broad.mit.edu	37	22	35812686	35812686	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:35812686C>T	ENST00000216122.4	+	12	1623	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	MCM5_ENST00000382011.5_Missense_Mutation_p.S447L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	490	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCTGCCAACTCAGTGTTCGGC	0.572000													23	17					0	0	0.014323	0	0
ARID1B	57492	broad.mit.edu	37	6	157150397	157150397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:157150397C>T	ENST00000346085.5	+	2	1580	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q527*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q469*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q527*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	527					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAGAGACCTCAGTTGTATGG	0.478000													11	34					0	0	0.013537	0	0
APLN	8862	broad.mit.edu	37	X	128782635	128782635	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:128782635G>A	ENST00000307484.6	-	2	527	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	APLN_ENST00000429967.1_Silent_p.P30P|APLN_ENST00000427399.1_Silent_p.P30P	NM_017413.4	NP_059109.3	Q9ULZ1	APEL_HUMAN	apelin	68					immune response|lactation|signal transduction		hormone activity										TGGGAGAGGCGGGGCCGCTGG	0.627000													5	9					0	0	0.001168	0	0
ARHGAP6	395	broad.mit.edu	37	X	11206912	11206912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:11206912G>C	ENST00000337414.4	-	4	1885	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.S135*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.S135*|ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.S147*|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.S370*|ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.S163*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.S338*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	338					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGTGTTTCTGAGGTTGAGCT	0.502000													31	38					0	0	0.010818	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40735725	40735725	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:40735725C>G	ENST00000372759.3	+	5	718	c.553C>G	c.(553-555)Cta>Gta	p.L185V		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	185						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GTCTTCACTTCTACTTTACAT	0.338000													40	164					0	0	0.005524	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147023724	147023724	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:147023724A>C	ENST00000265272.5	-	7	1588	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.L332*|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.L374*	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	374						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGATTTTAATTTCTTCAG	0.368000													21	16					0	0	0.012319	0	0
ZNF785	146540	broad.mit.edu	37	16	30596747	30596747	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:30596747G>A	ENST00000395216.2	-	1	345	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ZNF785_ENST00000470110.1_Silent_p.F62F	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGGTGGCCGAAGGTCTCCC	0.711000													3	14					0	0	0.004672	0	0
PDX1	3651	broad.mit.edu	37	13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:28498541G>C	ENST00000381033.4	+	2	674	c.555G>C	c.(553-555)ttG>ttC	p.L185F		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	185					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587000													16	49					0	0	0.007413	0	0
SLX4	84464	broad.mit.edu	37	16	3632361	3632361	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:3632361C>T	ENST00000294008.3	-	15	6127	c.5487G>A	c.(5485-5487)aaG>aaA	p.K1829K	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1829	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTCCACCTTCTTCTTGCCCC	0.667000								Direct reversal of damage					29	36					0	0	0.006320	0	0
DCHS2	54798	broad.mit.edu	37	4	155155964	155155964	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:155155964C>G	ENST00000357232.4	-	25	8474	c.8475G>C	c.(8473-8475)ttG>ttC	p.L2825F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGCTGTTATCAAAGGGGGTG	0.468000													14	129					0	0	0.004990	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951324	46951324	+	Missense_Mutation	SNP	C	C	G	rs56138890		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:46951324C>G	ENST00000311124.4	-	3	1080	c.928G>C	c.(928-930)Gat>Cat	p.D310H	SLC19A1_ENST00000485649.2_Missense_Mutation_p.D270H|SLC19A1_ENST00000567670.1_Missense_Mutation_p.D310H|SLC19A1_ENST00000380010.4_Missense_Mutation_p.D310H	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	310					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAGGCAGCATCTGCCGCGCCG	0.662000													23	67					0	0	0.002780	0	0
XK	7504	broad.mit.edu	37	X	37587304	37587304	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:37587304C>T	ENST00000378616.3	+	3	1127	c.924C>T	c.(922-924)atC>atT	p.I308I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	308					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTGACCTCATCAGCAAGTCCC	0.433000													16	32					0	0	0.004990	0	0
ASXL2	55252	broad.mit.edu	37	2	25967074	25967074	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:25967074C>G	ENST00000435504.4	-	13	2425	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T	ASXL2_ENST00000404843.1_Missense_Mutation_p.R451T|ASXL2_ENST00000272341.4_Missense_Mutation_p.R451T|ASXL2_ENST00000336112.4_Missense_Mutation_p.R683T			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	711	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCCTCCTCTAGCAGTCTG	0.612000													109	82					0	0	0.014410	0	0
TMCO3	55002	broad.mit.edu	37	13	114150077	114150077	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:114150077C>T	ENST00000434316.2	+	2	540	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	TMCO3_ENST00000375391.1_Missense_Mutation_p.L61F|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	61						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTCAGGGCTTCTCCGCCAGAA	0.582000													5	19					0	0	0.001168	0	0
RASSF9	9182	broad.mit.edu	37	12	86198764	86198764	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:86198764C>T	ENST00000361228.3	-	2	1392	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	342					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTAATCTCTTTCTGGATG	0.373000													27	167					0	0	0.005443	0	0
CHD7	55636	broad.mit.edu	37	8	61765933	61765933	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:61765933G>A	ENST00000423902.2	+	31	7128	c.6649G>A	c.(6649-6651)Gaa>Aaa	p.E2217K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2217	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTGAAAAATGAACTGAAAGG	0.493000													4	18					0	0	0.009096	0	0
GLE1	2733	broad.mit.edu	37	9	131267111	131267111	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:131267111G>A	ENST00000309971.4	+	1	133	c.27G>A	c.(25-27)gaG>gaA	p.E9E	GLE1_ENST00000372770.4_Silent_p.E9E|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	9	Interaction with NUP155.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGCTGGGAGACCTTGAAGG	0.652000													45	56					0	0	0.014410	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692958	100692958	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:100692958G>C	ENST00000268070.4	-	10	1437	c.1332C>G	c.(1330-1332)gtC>gtG	p.V444V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	444	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGCAGGTGCTGACTTTTGACC	0.488000													5	41					0	0	0.000602	0	0
LMAN2	10960	broad.mit.edu	37	5	176764246	176764246	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:176764246C>G	ENST00000303127.7	-	6	885	c.681G>C	c.(679-681)atG>atC	p.M227I	LMAN2_ENST00000515209.1_Missense_Mutation_p.M227I	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	227	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGTCGGTCATCACCTGCA	0.667000													5	20					0	0	0.001168	0	0
WEE1	7465	broad.mit.edu	37	11	9606822	9606822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:9606822C>T	ENST00000299613.6	+	7	1419	c.664C>T	c.(664-666)Cga>Tga	p.R222*	WEE1_ENST00000450114.2_Nonsense_Mutation_p.R436*	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	436					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTTCATATCTCGAACCTCAAT	0.328000													9	40					0	0	0.004482	0	0
PSD	5662	broad.mit.edu	37	10	104176632	104176632	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:104176632G>T	ENST00000020673.5	-	2	690	c.164C>A	c.(163-165)cCt>cAt	p.P55H	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.P55H	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	55	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGGCCTCGAGGACCTGGACC	0.697000													8	35					5.18039e-06	5.6342e-06	0.003080	1	0
TBCC	6903	broad.mit.edu	37	6	42713668	42713668	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:42713668C>T	ENST00000244625.2	-	2	707	c.144G>A	c.(142-144)caG>caA	p.Q48Q	TBCC_ENST00000372876.1_Silent_p.Q48Q			Q15814	TBCC_HUMAN	tubulin folding cofactor C	48					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCTCCTGGTTCTGCCGCTTTT	0.602000													17	48					0	0	0.012319	0	0
TGIF2	60436	broad.mit.edu	37	20	35207317	35207317	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:35207317C>G	ENST00000373874.2	+	2	339	c.140C>G	c.(139-141)tCa>tGa	p.S47*	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Nonsense_Mutation_p.S47*|TGIF2-C20orf24_ENST00000558530.1_Nonsense_Mutation_p.S47*	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCTACCCCTCAGAGCAGGAG	0.597000													42	60					0	0	0.013114	0	0
ELP4	26610	broad.mit.edu	37	11	31625314	31625314	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:31625314G>C	ENST00000379163.5	+	5	531	c.516G>C	c.(514-516)caG>caC	p.Q172H	ELP4_ENST00000350638.5_Splice_Site|ELP4_ENST00000395934.2_Splice_Site			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	171					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TATTTTAGCAGATTGGACCAG	0.308000													20	66					0	0	0.010504	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42833152	42833152	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:42833152G>C	ENST00000314073.5	+	13	3384	c.3208G>C	c.(3208-3210)Gaa>Caa	p.E1070Q	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E1070Q					GLTSCR1-like																		CTCCATTTTAGAAGCAGCTGT	0.512000													19	82					0	0	0.012319	0	0
LMBRD2	92255	broad.mit.edu	37	5	36114609	36114609	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:36114609C>A	ENST00000296603.4	-	13	2019	c.1557G>T	c.(1555-1557)atG>atT	p.M519I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	519						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAACTTTCATGGAACCCA	0.299000													13	27					4.36969e-10	4.8387e-10	0.001855	1	0
CIT	11113	broad.mit.edu	37	12	120189920	120189920	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:120189920G>A	ENST00000392521.2	-	23	2894	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R905C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	905					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGCCTGGCGAAGCTGGCTC	0.607000													12	18					0	0	0.010729	0	0
DTNA	1837	broad.mit.edu	37	18	32418083	32418083	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:32418083G>A	ENST00000444659.1	+	11	1121	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	DTNA_ENST00000399113.3_Missense_Mutation_p.E374K|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000591182.1_Missense_Mutation_p.E53K|DTNA_ENST00000269190.7_Missense_Mutation_p.E375K|DTNA_ENST00000348997.5_Missense_Mutation_p.E371K|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.E374K|DTNA_ENST00000399097.3_Missense_Mutation_p.E53K|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.E83K|DTNA_ENST00000598142.1_Intron	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	374					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGTGAAGTAGAGCAGAACAA	0.458000													6	26					0	0	0.001168	0	0
ZNF493	284443	broad.mit.edu	37	19	21606210	21606210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:21606210C>G	ENST00000392288.2	+	4	858	c.749C>G	c.(748-750)tCa>tGa	p.S250*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Nonsense_Mutation_p.S122*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AACCAGGACTCAAACCTTACT	0.378000													8	12					0	0	0.004482	0	0
TMEM99	147184	broad.mit.edu	37	17	38991060	38991060	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:38991060C>T	ENST00000301665.3	+	3	596	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	98						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				ACTTCTTCTTCCTTGTCTCCT	0.468000													18	221					0	0	0.007413	0	0
LXN	56925	broad.mit.edu	37	3	158386893	158386893	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:158386893C>T	ENST00000264265.3	-	4	613	c.399G>A	c.(397-399)atG>atA	p.M133I	GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	133						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACGAGCGTCATTTCTGGAG	0.303000													25	56					0	0	0.005443	0	0
MLNR	2862	broad.mit.edu	37	13	49796261	49796261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:49796261G>C	ENST00000398307.1	+	2	1138	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	MLNR_ENST00000218721.1_Missense_Mutation_p.M329I			O43193	MTLR_HUMAN	motilin receptor	0					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		ATTCGCGGATGATGTACTTCT	0.423000													31	73					0	0	0.009535	0	0
PIAS1	8554	broad.mit.edu	37	15	68468819	68468819	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:68468819G>C	ENST00000545237.1	+	12	2055	c.1314G>C	c.(1312-1314)ttG>ttC	p.L438F	PIAS1_ENST00000249636.6_Missense_Mutation_p.L436F			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	436					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TAGGATGCTTGAGCTCCACAT	0.398000													19	68					0	0	0.012319	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748817	25748817	+	RNA	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:25748817C>T	ENST00000586223.1	+	0	718					NR_033892.1																						CTGGCACCGTCAGCCTCTCAG	0.587000													19	11					0	0	0.006122	0	0
UBR4	23352	broad.mit.edu	37	1	19513096	19513096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:19513096G>A	ENST00000375267.2	-	14	1691	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	UBR4_ENST00000375254.3_Missense_Mutation_p.S563F|UBR4_ENST00000375217.2_Missense_Mutation_p.S563F|UBR4_ENST00000375226.2_Missense_Mutation_p.S563F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	563					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAGTCGGTGGAGGCGCTGGC	0.517000													16	22					0	0	0.004007	0	0
ANKRD27	84079	broad.mit.edu	37	19	33110220	33110220	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:33110220G>A	ENST00000306065.4	-	20	2111	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	651					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACATGGAGGAGAAGCTGGAAG	0.637000													12	63					0	0	0.010729	0	0
IGSF22	283284	broad.mit.edu	37	11	18732357	18732357	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:18732357G>C	ENST00000513874.1	-	16	2556	c.2417C>G	c.(2416-2418)tCc>tGc	p.S806C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	806	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGAGGCTGGGAGGCAAAACC	0.557000													7	46					0	0	0.001984	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512534	119512534	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:119512534G>C	ENST00000218008.3	+	7	875	c.818G>C	c.(817-819)aGa>aCa	p.R273T	ATP1B4_ENST00000539306.1_Splice_Site_p.R230T|ATP1B4_ENST00000361319.3_Splice_Site_p.R269T	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	273					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGCTTACAGAGAGGTGATGAA	0.493000													30	194					0	0	0.010818	0	0
ABHD5	51099	broad.mit.edu	37	3	43760023	43760023	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:43760023G>A	ENST00000458276.2	+	7	1172	c.1049G>A	c.(1048-1050)tGa>tAa	p.*350*	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	0					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ACTGTGGACTGAACACACTGA	0.413000													38	29					0	0	0.005524	0	0
ZNF582	147948	broad.mit.edu	37	19	56896200	56896200	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:56896200C>G	ENST00000301310.4	-	5	744	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	ZNF582_ENST00000586929.1_Missense_Mutation_p.E196Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TAGGGTTTCTCATTAGTATAA	0.318000													23	36					0	0	0.012319	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660267	77660267	+	Missense_Mutation	SNP	G	G	A	rs140762344	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:77660267G>A	ENST00000296043.6	+	5	1894	c.941G>A	c.(940-942)cGg>cAg	p.R314Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	314					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.R313L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TATGACACCCGGAGGGGAGTC	0.547000													31	37					0	0	0.012213	0	0
LARP4	113251	broad.mit.edu	37	12	50821605	50821605	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:50821605C>G	ENST00000398473.2	+	2	191	c.79C>G	c.(79-81)Cct>Gct	p.P27A	LARP4_ENST00000518444.1_Missense_Mutation_p.P26A|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000429001.3_Missense_Mutation_p.P27A|LARP4_ENST00000522085.1_Missense_Mutation_p.P27A|LARP4_ENST00000293618.8_Missense_Mutation_p.P27A|LARP4_ENST00000347328.5_Missense_Mutation_p.P27A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	27							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGAAATTGCTCCTGGAAATAC	0.383000													13	55					0	0	0.013537	0	0
KIF20B	9585	broad.mit.edu	37	10	91498177	91498177	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:91498177C>A	ENST00000416354.1	+	20	3741	c.3669C>A	c.(3667-3669)atC>atA	p.I1223I	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.I1193I|KIF20B_ENST00000260753.4_Silent_p.I1153I|KIF20B_ENST00000394289.2_Silent_p.I1193I			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1193					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAATCTATCATCTTAAAGC	0.318000													11	32					2.80697e-09	3.09655e-09	0.010729	1	0
NSMF	26012	broad.mit.edu	37	9	140351949	140351949	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140351949G>C	ENST00000371475.3	-	3	769	c.538C>G	c.(538-540)Cgg>Ggg	p.R180G	NSMF_ENST00000392812.4_Missense_Mutation_p.R180G|NSMF_ENST00000371474.3_Missense_Mutation_p.R180G|NSMF_ENST00000339554.3_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.R180G|NSMF_ENST00000371473.3_Missense_Mutation_p.R180G|NSMF_ENST00000265663.7_Missense_Mutation_p.R180G|NSMF_ENST00000371472.2_Missense_Mutation_p.R180G	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		CCAAAGGCCCGAGGGGTGGGG	0.692000													11	17					0	0	0.008291	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322136	67322136	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:67322136C>G	ENST00000360461.5	+	19	5822	c.3287C>G	c.(3286-3288)tCg>tGg	p.S1096W	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1096W|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1096W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1015W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1096					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTGGGGGCCTCGAACTCCCTT	0.612000													17	261					0	0	0.004990	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738704	102738704	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:102738704G>A	ENST00000210633.3	+	7	820	c.742G>A	c.(742-744)Gag>Aag	p.E248K	SEMA4G_ENST00000517724.1_Missense_Mutation_p.E248K|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E248K|MRPL43_ENST00000370241.3_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	248	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)		GCGTGCCACTGAGGAGGGCTC	0.607000													17	11					0	0	0.004007	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388379	119388379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:119388379C>G	ENST00000326624.2	+	2	1337	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S370*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	370					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTGATGGATCATTAATACAG	0.388000													49	107					0	0	0.014410	0	0
PATZ1	23598	broad.mit.edu	37	22	31723201	31723201	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31723201C>T	ENST00000266269.5	-	5	2369	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Silent_p.Q534Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	580					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CATTGGCACTCTGCTTCTCTG	0.522000													26	105					0	0	0.003954	0	0
OR2H1	26716	broad.mit.edu	37	6	29430048	29430048	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:29430048C>A	ENST00000377136.1	+	4	967	c.502C>A	c.(502-504)Ccc>Acc	p.P168T	OR2H1_ENST00000442615.1_Missense_Mutation_p.P168T|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.P168T|OR2H1_ENST00000377133.1_Missense_Mutation_p.P168T|OR2H1_ENST00000396792.2_Missense_Mutation_p.P168T			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCCCTTCTGTCCCCACCAGCA	0.537000													59	147					1.39562e-46	1.58864e-46	0.014410	1	0
TECTA	7007	broad.mit.edu	37	11	120998643	120998643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:120998643G>A	ENST00000392793.1	+	9	2228	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	TECTA_ENST00000264037.2_Missense_Mutation_p.D653N			O75443	TECTA_HUMAN	tectorin alpha	653					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGCGGCTGCGACTTCGACGG	0.647000													11	38					0	0	0.013537	0	0
MIEF1	54471	broad.mit.edu	37	22	39908307	39908307	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:39908307C>G	ENST00000325301.2	+	5	817	c.393C>G	c.(391-393)ctC>ctG	p.L131L	MIEF1_ENST00000402881.1_Silent_p.L131L|MIEF1_ENST00000404569.1_Silent_p.L131L	NM_019008.4	NP_061881.2			mitochondrial elongation factor 1	131																	AGTCACGACTCCGCATGTCCC	0.592000													13	18					0	0	0.001855	0	0
SIX2	10736	broad.mit.edu	37	2	45233486	45233486	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:45233486G>A	ENST00000303077.6	-	2	1018	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	233						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCGGCGGGCTGAGGAGCAGTG	0.706000													60	45					0	0	0.014410	0	0
ICAM5	7087	broad.mit.edu	37	19	10403751	10403751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10403751G>T	ENST00000221980.4	+	6	1357	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	432	Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTGCGCTGCGAGGCCCGCGG	0.721000													9	72					1.58986e-06	1.73171e-06	0.008291	1	0
NCMAP	400746	broad.mit.edu	37	1	24921940	24921940	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:24921940C>T	ENST00000374392.2	+	2	85	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		AGCCACCCCTCTGGGGGATAC	0.433000													8	49					0	0	0.004482	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214413	3214413	+	RNA	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:3214413C>G	ENST00000573491.1	-	0	359																											TCAGTGGAGTCTTCGGACAAG	0.547000													48	26					0	0	0.014410	0	0
GRB10	2887	broad.mit.edu	37	7	50672070	50672070	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:50672070C>T	ENST00000403097.1	-	15	2156	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	GRB10_ENST00000406641.1_Missense_Mutation_p.R407Q|GRB10_ENST00000439599.1_Missense_Mutation_p.R459Q|GRB10_ENST00000407526.1_Missense_Mutation_p.R407Q|GRB10_ENST00000402497.1_Missense_Mutation_p.R407Q|GRB10_ENST00000398812.2_Missense_Mutation_p.R465Q|GRB10_ENST00000402578.1_Missense_Mutation_p.R407Q|GRB10_ENST00000357271.5_Missense_Mutation_p.R419Q|GRB10_ENST00000398810.2_Missense_Mutation_p.R407Q|GRB10_ENST00000335866.3_Missense_Mutation_p.R407Q|GRB10_ENST00000401949.1_Missense_Mutation_p.R465Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	465					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCGTGTGCTTCGCTTCTGCAA	0.502000									Russell-Silver syndrome				17	36					0	0	0.006122	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604717	108604717	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:108604717G>A	ENST00000264047.2	+	2	382	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SLC5A7_ENST00000409059.1_Missense_Mutation_p.E36K|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	36					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGCAGCGCAGAAGAGCGCAG	0.498000													12	74					0	0	0.010729	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:90162338T>C	ENST00000567960.1	+	0	1074				TUBB8P7_ENST00000564451.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													5	51					0	0	0.000602	0	0
KRT18P55	284085	broad.mit.edu	37	17	26633194	26633194	+	RNA	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:26633194C>T	ENST00000577198.1	-	0	449					NR_028334.1																						GATGCTTGTTCAGTTTCCAAG	0.368000													4	2					0	0	0.009096	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694559	187694559	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:187694559C>T	ENST00000295131.2	-	8	1029	c.990G>A	c.(988-990)ctG>ctA	p.L330L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	330					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTAGTAATCAGTTGGAGAG	0.393000													25	53					0	0	0.003954	0	0
WDFY3	23001	broad.mit.edu	37	4	85742534	85742534	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:85742534C>T	ENST00000322366.6	-	11	1701	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E432K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	432						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAAATCTTCTCTGCAAACTGT	0.353000													19	91					0	0	0.006122	0	0
NUP54	53371	broad.mit.edu	37	4	77053847	77053847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:77053847C>G	ENST00000264883.3	-	6	876	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	NUP54_ENST00000342467.6_Missense_Mutation_p.E66Q|NUP54_ENST00000514987.1_Missense_Mutation_p.E198Q|NUP54_ENST00000458189.2_Missense_Mutation_p.E66Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	246	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GGCGAACGCTCAACAACATAA	0.373000													4	63					0	0	0.009096	0	0
PTGER1	5731	broad.mit.edu	37	19	14583491	14583491	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:14583491G>A	ENST00000292513.3	-	3	1207	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C		NM_000955.2	NP_000946.2	P34995	PE2R1_HUMAN	prostaglandin E receptor 1 (subtype EP1), 42kDa	364						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	GGCAAGAGGCGAAGCAGTTGG	0.716000													4	14					0	0	0.009096	0	0
PLEC	5339	broad.mit.edu	37	8	144997172	144997172	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:144997172C>T	ENST00000322810.4	-	31	7505	c.7336G>A	c.(7336-7338)Gag>Aag	p.E2446K	PLEC_ENST00000345136.3_Missense_Mutation_p.E2309K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2309K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2332K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2336K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2287K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2277K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2313K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2295K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2446	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2446Q(1)|p.E2309Q(1)|p.E2336Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCATCTTCTCTGCCAAGGCC	0.677000													5	3					0	0	0.001168	0	0
SSNA1	8636	broad.mit.edu	37	9	140083665	140083665	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140083665C>G	ENST00000322310.5	+	2	280	c.200C>G	c.(199-201)tCt>tGt	p.S67C	SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	67					G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AAGATTGCCTCTCGCAACGAG	0.647000													5	32					0	0	0.000602	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638078	16638078	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:16638078G>A	ENST00000443444.2	+	12	2633	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	CCDC144A_ENST00000399273.1_Silent_p.L831L|CCDC144A_ENST00000360524.8_Silent_p.L831L|CCDC144A_ENST00000456009.1_Silent_p.L551L|RP11-219A15.1_ENST00000448331.3_Silent_p.L831L			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	831																	TTGCCTTGCTGAGACTGGAAA	0.333000													6	4					0	0	0.001168	0	0
ATG9B	285973	broad.mit.edu	37	7	150715811	150715811	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:150715811G>C	ENST00000605938.1	-	6	1689	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	ATG9B_ENST00000377974.2_Silent_p.L538L|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	538					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCGGCGAAGAGTGCACCCG	0.736000													12	19					0	0	0.010729	0	0
ACAN	176	broad.mit.edu	37	15	89417122	89417122	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:89417122G>A	ENST00000439576.2	+	17	7757	c.7383G>A	c.(7381-7383)caG>caA	p.Q2461Q	ACAN_ENST00000561243.1_Silent_p.Q2461Q|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Silent_p.Q2423Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2461					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCGGGCAGAAGAAGGACC	0.612000													5	34					0	0	0.000602	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236984	132236984	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:132236984C>G	ENST00000321253.6	+	3	437	c.330C>G	c.(328-330)atC>atG	p.I110M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	110					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ATTACACCATCGGCAAGGAGA	0.537000													18	155					0	0	0.004656	0	0
C19orf45	374877	broad.mit.edu	37	19	7571014	7571014	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:7571014C>G	ENST00000361664.2	+	7	1311	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	390										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CGCCCAACCTCCACTTGCAGC	0.662000													10	13					0	0	0.002450	0	0
IRF4	3662	broad.mit.edu	37	6	398908	398908	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:398908A>G	ENST00000380956.4	+	6	844	c.718A>G	c.(718-720)Agg>Ggg	p.R240G		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	240					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCCAAGCATAAGGTCTGCCGA	0.572000			T	IGH@	MM								6	23					0	0	0.001984	0	0
MYH2	4620	broad.mit.edu	37	17	10432905	10432905	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:10432905G>C	ENST00000245503.5	-	24	3477	c.3093C>G	c.(3091-3093)atC>atG	p.I1031M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.I1031M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1031					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTCAAGTTTGATTTTAGCTT	0.438000													26	109					0	0	0.012213	0	0
KDM6B	23135	broad.mit.edu	37	17	7751700	7751700	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:7751700C>T	ENST00000254846.5	+	11	2483	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	KDM6B_ENST00000448097.2_Silent_p.I698I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	698	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGGCCAACATCATGAAGATGC	0.577000													111	38					0	0	0.014410	0	0
CPT1C	126129	broad.mit.edu	37	19	50213740	50213740	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:50213740G>A	ENST00000392518.4	+	15	2102	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	CPT1C_ENST00000598293.1_Splice_Site_p.R577Q|CPT1C_ENST00000354199.5_Splice_Site_p.R577Q|CPT1C_ENST00000405931.2_Splice_Site_p.R566Q|CPT1C_ENST00000323446.5_Splice_Site_p.R577Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	577					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCACTTCCGGGTCAGTTGG	0.597000													5	27					0	0	0.000602	0	0
PARS2	25973	broad.mit.edu	37	1	55224036	55224036	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:55224036C>T	ENST00000371279.3	-	2	881	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	267					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCCGGTCCTCTCCAATATCC	0.567000													12	27					0	0	0.002450	0	0
RCOR3	55758	broad.mit.edu	37	1	211486789	211486789	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:211486789G>A	ENST00000367006.4	+	11	1381	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	RCOR3_ENST00000367005.4_Silent_p.R389R|RCOR3_ENST00000419091.2_Silent_p.R447R|RCOR3_ENST00000526255.1_3'UTR	NM_001136224.2	NP_001129696.2	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AGGCTCCTCGGACACTGGGTC	0.502000													44	49					0	0	0.008740	0	0
PHKB	5257	broad.mit.edu	37	16	47683100	47683100	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:47683100G>A	ENST00000455779.1	+	19	1946	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	PHKB_ENST00000323584.5_Silent_p.L594L|PHKB_ENST00000299167.8_Silent_p.L594L|PHKB_ENST00000566044.1_Silent_p.L587L			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	594					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTTCCTGCTGATAGATGACA	0.368000													11	46					0	0	0.013537	0	0
COQ10A	93058	broad.mit.edu	37	12	56663999	56663999	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:56663999C>G	ENST00000308197.5	+	5	903	c.642C>G	c.(640-642)gtC>gtG	p.V214V	COQ10A_ENST00000433805.2_Silent_p.V182V|COQ10A_ENST00000546544.1_Silent_p.V197V	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	214						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						ATGAGGTTGTCAAACAGAATG	0.498000													55	103					0	0	0.014410	0	0
RCE1	9986	broad.mit.edu	37	11	66612695	66612695	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:66612695C>G	ENST00000309657.3	+	6	722	c.678C>G	c.(676-678)atC>atG	p.I226M	RCE1_ENST00000525356.1_Missense_Mutation_p.I103M|RCE1_ENST00000524506.1_Missense_Mutation_p.I226M	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	226					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGGGAACATCTTCTTGTCTG	0.522000													3	30					0	0	0.004672	0	0
DDX18	8886	broad.mit.edu	37	2	118586868	118586868	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:118586868G>C	ENST00000263239.2	+	13	1824	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	566	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTCAGCTTGAGAAATTGAT	0.343000													5	55					0	0	0.000602	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649794	232649794	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:232649794G>C	ENST00000366630.1	-	2	1650	c.1292C>G	c.(1291-1293)tCa>tGa	p.S431*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.S431*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	431					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S431L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAAGAGGATGAGTTGGCTCG	0.512000													52	110					0	0	0.014410	0	0
SLC11A1	6556	broad.mit.edu	37	2	219259409	219259409	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:219259409C>G	ENST00000233202.6	+	14	1783	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	SLC11A1_ENST00000539932.1_Silent_p.L363L	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	481					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCAACCTCTACTTCGTGG	0.627000													15	36					0	0	0.002450	0	0
KMT2D	8085	broad.mit.edu	37	12	49431769	49431769	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:49431769C>T	ENST00000301067.7	-	34	9369	c.9370G>A	c.(9370-9372)Gag>Aag	p.E3124K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGTCCACCCTCCTCCACCTTG	0.647000													7	13					0	0	0.001984	0	0
ZNF556	80032	broad.mit.edu	37	19	2877756	2877756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:2877756C>T	ENST00000586426.1	+	4	884	c.797C>T	c.(796-798)gCc>gTc	p.A266V	ZNF556_ENST00000307635.2_Missense_Mutation_p.A267V			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TGTGGGAAAGCCTTCAGGTGT	0.547000													8	11					0	0	0.003080	0	0
ZNF141	7700	broad.mit.edu	37	4	338188	338188	+	Silent	SNP	G	G	A	rs148239320	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:338188G>A	ENST00000240499.7	+	3	344	c.195G>A	c.(193-195)gtG>gtA	p.V65V	ZNF141_ENST00000505939.1_Silent_p.V65V|ZNF141_ENST00000512994.1_Silent_p.V65V	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	65	KRAB.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CCTACAATGTGAAGATACATA	0.453000													23	27					0	0	0.003954	0	0
NLRC4	58484	broad.mit.edu	37	2	32476047	32476047	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32476047C>G	ENST00000404025.2	-	5	1374	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.E296Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E296Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	296	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCCCCACCTCAGCAGTCAGG	0.527000													12	81					0	0	0.013537	0	0
TTC30A	92104	broad.mit.edu	37	2	178482095	178482095	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:178482095C>G	ENST00000355689.5	-	1	1599	c.1335G>C	c.(1333-1335)aaG>aaC	p.K445N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TGCGGAAGACCTTTTCCACCA	0.393000													11	32					0	0	0.013537	0	0
ZNF839	55778	broad.mit.edu	37	14	102792847	102792847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:102792847C>G	ENST00000262236.5	+	2	821	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	ZNF839_ENST00000558850.1_Missense_Mutation_p.L156V|ZNF839_ENST00000559185.1_Missense_Mutation_p.L156V|ZNF839_ENST00000442396.2_Missense_Mutation_p.L272V	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	156						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACAGAGGATCTGGCGGATGG	0.403000													4	15					0	0	0.009096	0	0
GABRB1	2560	broad.mit.edu	37	4	47408854	47408854	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:47408854T>C	ENST00000295454.3	+	8	1283	c.991T>C	c.(991-993)Ttc>Ctc	p.F331L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F261L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATTACATCTTCTTTGGGAA	0.408000													28	23					0	0	0.007291	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711570	155711570	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:155711570G>C	ENST00000295101.2	+	3	1728	c.1251G>C	c.(1249-1251)ttG>ttC	p.L417F		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	417					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAAACTCTTGAGGATGAGTT	0.393000													18	81					0	0	0.006122	0	0
TPP2	7174	broad.mit.edu	37	13	103316028	103316028	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:103316028G>C	ENST00000376052.3	+	26	3190	c.3174G>C	c.(3172-3174)ttG>ttC	p.L1058F	TPP2_ENST00000376065.4_Missense_Mutation_p.L1045F|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1045					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAACGAATTGAAAGAAACAT	0.299000													6	23					0	0	0.001984	0	0
USP48	84196	broad.mit.edu	37	1	22048202	22048202	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:22048202C>T	ENST00000308271.9	-	13	2352	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	USP48_ENST00000529637.1_Silent_p.K567K|USP48_ENST00000374732.3_Silent_p.K107K|USP48_ENST00000400301.1_Silent_p.K568K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	568					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTAGTTGGTTCTTCAGACGCA	0.353000													8	34					0	0	0.006214	0	0
ABCG8	64241	broad.mit.edu	37	2	44104809	44104809	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:44104809C>G	ENST00000272286.2	+	12	1956	c.1866C>G	c.(1864-1866)atC>atG	p.I622M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	622	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCTCACCATCGCGGTCTCAG	0.502000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	112					0	0	0.000602	0	0
DTX3	196403	broad.mit.edu	37	12	58002422	58002422	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:58002422C>T	ENST00000548198.1	+	4	2374	c.870C>T	c.(868-870)ctC>ctT	p.L290L	DTX3_ENST00000548804.1_Silent_p.L290L|DTX3_ENST00000337737.3_Silent_p.L290L|DTX3_ENST00000551632.1_Silent_p.L293L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	290					Notch signaling pathway	cytoplasm	zinc ion binding	p.L290L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCAGCGTCTCACCTTCACTA	0.607000													28	28					0	0	0.004656	0	0
ANKAR	150709	broad.mit.edu	37	2	190569937	190569937	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:190569937G>A	ENST00000520309.1	+	8	1985	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	ANKAR_ENST00000431575.2_Missense_Mutation_p.E562K|ANKAR_ENST00000281412.6_Missense_Mutation_p.E397K|ANKAR_ENST00000313581.4_Missense_Mutation_p.E633K|ANKAR_ENST00000438402.2_Missense_Mutation_p.E633K	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	633						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCTAGAAGCTGAGGCAACAGC	0.358000													34	53					0	0	0.004878	0	0
DDX19A	55308	broad.mit.edu	37	16	70400148	70400148	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:70400148G>C	ENST00000302243.7	+	8	928	c.765G>C	c.(763-765)caG>caC	p.Q255H	DDX19A_ENST00000443119.2_Missense_Mutation_p.Q165H|DDX19A_ENST00000417604.2_Missense_Mutation_p.Q224H|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.Q256H	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				ACCAAGATCAGAGCATCCGCA	0.532000													119	42					0	0	0.014410	0	0
CACNG7	59284	broad.mit.edu	37	19	54417765	54417765	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54417765G>A	ENST00000391767.1	+	3	420	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.G70S|CACNG7_ENST00000391766.1_Missense_Mutation_p.G70S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	70					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G70R(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCGGGAGAAAGGTCGCTGTGT	0.552000													10	13					0	0	0.006214	0	0
ROBO2	6092	broad.mit.edu	37	3	77638059	77638059	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:77638059G>A	ENST00000461745.1	+	17	3558	c.2658G>A	c.(2656-2658)aaG>aaA	p.K886K	ROBO2_ENST00000332191.8_Silent_p.K886K|ROBO2_ENST00000487694.3_Silent_p.K902K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	886					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAGAAAGAAGAGGAAGGGAC	0.418000													9	59					0	0	0.006214	0	0
MKL2	57496	broad.mit.edu	37	16	14340937	14340937	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:14340937G>A	ENST00000571589.1	+	12	1992	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	MKL2_ENST00000341243.5_Missense_Mutation_p.R596Q|MKL2_ENST00000574045.1_Missense_Mutation_p.R607Q|MKL2_ENST00000318282.5_Missense_Mutation_p.R607Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	596					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTGAAAAACGAGGGCAGCAG	0.527000													12	27					0	0	0.010729	0	0
HGD	3081	broad.mit.edu	37	3	120394679	120394679	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:120394679G>A	ENST00000283871.5	-	2	506	c.47C>T	c.(46-48)tCa>tTa	p.S16L	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	16					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGATCCTCTGAAGAACACTC	0.438000													51	50					0	0	0.014410	0	0
KIFAP3	22920	broad.mit.edu	37	1	170043582	170043582	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:170043582G>A	ENST00000361580.2	-	1	254	c.27C>T	c.(25-27)ctC>ctT	p.L9L	KIFAP3_ENST00000490550.1_Intron|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.L9L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	9					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCACCTTTTGAGGTATCTGG	0.607000													7	13					0	0	0.004482	0	0
MYH14	79784	broad.mit.edu	37	19	50812965	50812965	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:50812965C>T	ENST00000440075.2	+	43	6076	c.6029C>T	c.(6028-6030)tCc>tTc	p.S2010F	MYH14_ENST00000376970.2_Missense_Mutation_p.S2002F|MYH14_ENST00000596571.1_Missense_Mutation_p.S1969F|MYH14_ENST00000601313.1_Missense_Mutation_p.S2010F|MYH14_ENST00000262269.8_Missense_Mutation_p.S2010F|MYH14_ENST00000425460.1_Missense_Mutation_p.S1977F|MYH14_ENST00000598205.1_Missense_Mutation_p.S1977F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1969					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGTGGCATCCGACGAGGAG	0.677000													3	5					0	0	0.004672	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433695	69433695	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:69433695G>C	ENST00000317746.2	-	1	550	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	170					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGACTGTACAGAAAGGGTATG	0.438000													47	35					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130368001	130368001	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:130368001G>A	ENST00000358511.6	+	32	5359	c.5328G>A	c.(5326-5328)atG>atA	p.M1776I	COL6A6_ENST00000453409.2_Missense_Mutation_p.M1776I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1776	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGCGGATGAAGGAGATGA	0.557000													5	3					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179432083	179432083	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179432083A>C	ENST00000589042.1	-	326	79000	c.78776T>G	c.(78775-78777)aTt>aGt	p.I26259S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I17386S|TTN_ENST00000591111.1_Missense_Mutation_p.I24618S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I17319S|TTN_ENST00000460472.2_Missense_Mutation_p.I17194S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I23691S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24618	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCACCATCAATTCTAATTGC	0.363000													30	154					0	0	0.010818	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161026213	161026213	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:161026213G>C	ENST00000368013.3	-	3	630	c.310C>G	c.(310-312)Ccc>Gcc	p.P104A	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P104A|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	104	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTGAGCAGGGGATCCGGCAGT	0.567000													4	11					0	0	0.009096	0	0
KLHL40	131377	broad.mit.edu	37	3	42727855	42727855	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:42727855G>A	ENST00000287777.4	+	1	845	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_152393.2	NP_689606.2			kelch-like family member 40																		TGCCCAGCCCGAGTTGCTGCG	0.667000													22	20					0	0	0.010504	0	0
EHMT1	79813	broad.mit.edu	37	9	140605479	140605479	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140605479G>C	ENST00000460843.1	+	2	109	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	EHMT1_ENST00000371394.2_Intron|EHMT1_ENST00000462484.1_Missense_Mutation_p.E28Q|EHMT1_ENST00000334856.6_5'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	28					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGCTGGGAGAAGGTGAGGG	0.587000													2	2					0	0	0.004672	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561319	52561319	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:52561319G>C	ENST00000307076.4	-	10	1399	c.999C>G	c.(997-999)atC>atG	p.I333M	NT5DC2_ENST00000307092.4_Missense_Mutation_p.I274M|NT5DC2_ENST00000422318.2_Missense_Mutation_p.I370M|NT5DC2_ENST00000459839.1_Missense_Mutation_p.I345M	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	333							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCTGCCGATAGATCTTGCCCT	0.592000													4	44					0	0	0.009096	0	0
OR2T33	391195	broad.mit.edu	37	1	248436256	248436256	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:248436256G>C	ENST00000318021.2	-	1	882	c.861C>G	c.(859-861)atC>atG	p.I287M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TCACACTGTAGATGAGGGGGT	0.463000													60	113					0	0	0.014410	0	0
PSMA1	5682	broad.mit.edu	37	11	14532480	14532480	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:14532480C>G	ENST00000530457.1	-	8	1017	c.487G>C	c.(487-489)Gtt>Ctt	p.V163L	PSMA1_ENST00000418988.2_Missense_Mutation_p.V194L|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.V188L|PSMA1_ENST00000396394.2_Missense_Mutation_p.V188L|PSMA1_ENST00000419365.2_3'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						CCATGTTTAACTAGTTCATTT	0.313000													7	13					0	0	0.001984	0	0
DENND4A	10260	broad.mit.edu	37	15	66048633	66048633	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:66048633G>C	ENST00000443035.3	-	3	371	c.156C>G	c.(154-156)atC>atG	p.I52M	DENND4A_ENST00000431932.2_Missense_Mutation_p.I52M	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	52	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CAAGAGATTTGATAATAACTG	0.383000													8	10					0	0	0.004482	0	0
PREX1	57580	broad.mit.edu	37	20	47361601	47361601	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:47361601C>T	ENST00000396220.1	-	3	397	c.375G>A	c.(373-375)ccG>ccA	p.P125P	PREX1_ENST00000371941.3_Silent_p.P125P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	125	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTGAGACTGCGGCTCCGGGT	0.483000													31	171					0	0	0.010818	0	0
TANC1	85461	broad.mit.edu	37	2	160055543	160055543	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:160055543G>A	ENST00000263635.6	+	19	3460	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N	TANC1_ENST00000454300.1_Missense_Mutation_p.D969N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1075						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATGGCACCGACACATTGTG	0.453000													12	31					0	0	0.010729	0	0
PHF19	26147	broad.mit.edu	37	9	123628326	123628326	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:123628326G>C	ENST00000373896.3	-	8	1011	c.759C>G	c.(757-759)atC>atG	p.I253M	PHF19_ENST00000419155.1_Missense_Mutation_p.I44M|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCCTCTCGATGTACTCTG	0.617000													8	47					0	0	0.003080	0	0
TESPA1	9840	broad.mit.edu	37	12	55361654	55361654	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:55361654C>G	ENST00000449076.1	-	4	361	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.E77Q|TESPA1_ENST00000524959.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	77																	CCTGCTTCCTCAGAAAATCCT	0.383000													6	15					0	0	0.003080	0	0
MIER1	57708	broad.mit.edu	37	1	67450437	67450437	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:67450437G>C	ENST00000357692.2	+	15	1701	c.1444G>C	c.(1444-1446)Gaa>Caa	p.E482Q	MIER1_ENST00000355356.3_Missense_Mutation_p.E465Q|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.E518Q|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401042.3_Intron	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	489					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGCAAGAAATGAAAATGATTT	0.378000													16	54					0	0	0.004007	0	0
DRAM1	55332	broad.mit.edu	37	12	102315037	102315037	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:102315037G>A	ENST00000258534.8	+	7	1155	c.716G>A	c.(715-717)tGa>tAa	p.*239*	DRAM1_ENST00000544152.1_Silent_p.*129*	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	0					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						GGTGATATTTGAAGAAAGAAG	0.388000													23	43					0	0	0.003954	0	0
PRCC	5546	broad.mit.edu	37	1	156756618	156756618	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:156756618C>G	ENST00000271526.4	+	3	1007	c.735C>G	c.(733-735)atC>atG	p.I245M	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.I245M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	245					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCTGCTATCAAGGCTGCTG	0.557000			T	TFE3	papillary renal								8	43					0	0	0.003080	0	0
KDM4A	9682	broad.mit.edu	37	1	44156578	44156578	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:44156578G>A	ENST00000372396.3	+	14	2234	c.2100G>A	c.(2098-2100)caG>caA	p.Q700Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	700					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CCCAGAAGCAGAGGACCAAGC	0.483000													47	220					0	0	0.014410	0	0
GCSAM	257144	broad.mit.edu	37	3	111849351	111849351	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:111849351C>T	ENST00000308910.4	-	2	223	c.39G>A	c.(37-39)caG>caA	p.Q13Q	GCSAM_ENST00000484193.1_Silent_p.Q15Q|C3orf52_ENST00000467942.2_3'UTR	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		CTTGAGTGTTCTGCTGCCGCC	0.453000													58	109					0	0	0.014410	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806487	27806487	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:27806487G>A	ENST00000606613.1	+	1	109	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BN_ENST00000396980.3_Silent_p.K16K			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	16					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGGCTCCAAGAAGGCAGTGA	0.562000													46	99					0	0	0.014410	0	0
RPRM	56475	broad.mit.edu	37	2	154334837	154334837	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:154334837G>T	ENST00000325926.3	-	1	485	c.243C>A	c.(241-243)ctC>ctA	p.L81L	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	81					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CGGACTTGATGAGCAGATTGC	0.607000													6	20					3.59834e-05	3.88186e-05	0.001168	1	0
PCDHA8	56140	broad.mit.edu	37	5	140221939	140221939	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:140221939G>C	ENST00000531613.1	+	1	1033	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D345H|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATAAAAATGATAACGTCCC	0.453000													16	41					0	0	0.014323	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368698	86368698	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:86368698C>T	ENST00000400286.2	-	2	2544	c.1946G>A	c.(1945-1947)aGa>aAa	p.R649K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	649						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ACTGTTGTCTCTCATTTGCTC	0.423000													21	103					0	0	0.008871	0	0
AMER2	219287	broad.mit.edu	37	13	25745184	25745184	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:25745184G>A	ENST00000357816.2	-	2	1049	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	AMER2_ENST00000381853.3_Missense_Mutation_p.R192W|AMER2_ENST00000515384.1_Missense_Mutation_p.R192W					APC membrane recruitment protein 2																		CGCAGCCCCCGCTTTTGTTTG	0.682000													11	25					0	0	0.010729	0	0
CRB1	23418	broad.mit.edu	37	1	197404123	197404123	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:197404123C>T	ENST00000367397.1	+	5	2131	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	CRB1_ENST00000367400.3_Missense_Mutation_p.P1044S|CRB1_ENST00000535699.1_Missense_Mutation_p.P1020S|CRB1_ENST00000367399.2_Missense_Mutation_p.P932S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P525S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1044	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATGACAGACCCACTGTCCCA	0.458000													17	54					0	0	0.004990	0	0
MUSK	4593	broad.mit.edu	37	9	113449467	113449467	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:113449467G>C	ENST00000416899.2	+	3	403	c.277G>C	c.(277-279)Gat>Cat	p.D93H	MUSK_ENST00000374448.4_Missense_Mutation_p.D93H|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.D93H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	93	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGAAGACAGTGATGATGGCAT	0.512000													17	46					0	0	0.004990	0	0
PLEC	5339	broad.mit.edu	37	8	144998321	144998321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:144998321C>T	ENST00000322810.4	-	31	6356	c.6187G>A	c.(6187-6189)Gag>Aag	p.E2063K	PLEC_ENST00000345136.3_Missense_Mutation_p.E1926K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1926K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1949K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1953K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1904K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1894K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1930K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1912K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2063	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCAGGATCTCCTCCTCCACC	0.701000													10	14					0	0	0.008291	0	0
TBCC	6903	broad.mit.edu	37	6	42713649	42713649	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:42713649C>G	ENST00000244625.2	-	2	726	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	TBCC_ENST00000372876.1_Missense_Mutation_p.E55Q			Q15814	TBCC_HUMAN	tubulin folding cofactor C	55					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGCTGTTCTCCTTCTCTACC	0.617000													20	45					0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139153547	139153547	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:139153547G>A	ENST00000395297.1	-	17	3854	c.3684C>T	c.(3682-3684)ctC>ctT	p.L1228L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1228										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGGCCGTGTGAGGACCGATC	0.542000										HNSCC(54;0.14)			12	57					0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98060691	98060691	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:98060691G>T	ENST00000370192.3	-	9	982	c.882C>A	c.(880-882)ttC>ttA	p.F294L		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	294					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCAGGCCTTGGAAGATGGCAT	0.378000													14	49					1.5739e-10	1.74546e-10	0.004007	1	0
CD101	9398	broad.mit.edu	37	1	117544479	117544479	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:117544479C>G	ENST00000256652.4	+	1	98	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	CD101_ENST00000369470.1_Missense_Mutation_p.L14V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	14					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTTCTCCTTCTGAGTAAGTT	0.438000													26	45					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179598050	179598050	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179598050C>T	ENST00000589042.1	-	54	16194	c.15970G>A	c.(15970-15972)Gag>Aag	p.E5324K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5007K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4080K|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5007	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTGCAGCTCAGCTGAATAA	0.408000													16	43					0	0	0.004007	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005108	30005108	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:30005108C>T	ENST00000279392.3	-	5	2091	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HIRIP3_ENST00000564026.1_Missense_Mutation_p.R108K	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	421					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GGGTGGTCCTCTCCACGGCGA	0.602000													8	20					0	0	0.003080	0	0
FBXW2	26190	broad.mit.edu	37	9	123527035	123527035	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:123527035G>A	ENST00000608872.1	-	8	1354	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	FBXW2_ENST00000340778.5_Silent_p.I324I|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GCAAGTCCATGATGTACAGGT	0.517000													26	39					0	0	0.003330	0	0
C12orf10	60314	broad.mit.edu	37	12	53693683	53693683	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:53693683C>G	ENST00000267103.5	+	1	214	c.162C>G	c.(160-162)ttC>ttG	p.F54L	RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Missense_Mutation_p.F30L	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	54										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ATGGCACCTTCCACTGCGACG	0.657000											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	54					0	0	0.007291	0	0
RRP12	23223	broad.mit.edu	37	10	99130513	99130513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:99130513G>A	ENST00000370992.4	-	22	2654	c.2543C>T	c.(2542-2544)tCa>tTa	p.S848L	RRP12_ENST00000315563.6_Missense_Mutation_p.S748L|RRP12_ENST00000414986.1_Missense_Mutation_p.S787L|RRP12_ENST00000536831.1_Missense_Mutation_p.S566L|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	848						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTGTTCAGCTGAGAGCTTCCT	0.567000													18	24					0	0	0.007413	0	0
KCTD1	284252	broad.mit.edu	37	18	24081214	24081214	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:24081214C>T	ENST00000417602.1	-	2	1809	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	KCTD1_ENST00000579973.1_5'UTR|KCTD1_ENST00000317932.7_5'UTR|KCTD1_ENST00000580059.1_5'UTR|KCTD1_ENST00000408011.3_5'UTR	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GGCCGACTGTCCTACAGAGAG	0.398000													15	93					0	0	0.003163	0	0
EPB41L1	2036	broad.mit.edu	37	20	34807703	34807703	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:34807703C>T	ENST00000338074.2	+	19	2537	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	EPB41L1_ENST00000202028.5_Silent_p.L690L|EPB41L1_ENST00000373946.3_Silent_p.L612L|EPB41L1_ENST00000373950.2_Silent_p.L683L|EPB41L1_ENST00000373941.1_Silent_p.L791L|EPB41L1_ENST00000441639.1_Silent_p.L690L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	792	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGATGTCCTCACCAGCACCT	0.622000													15	69					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179591902	179591902	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179591902G>A	ENST00000589042.1	-	69	20414	c.20190C>T	c.(20188-20190)ctC>ctT	p.L6730L	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L6413L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L5486L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6413	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAGTACTGAGATTGTTCA	0.443000													26	28					0	0	0.006320	0	0
WDR6	11180	broad.mit.edu	37	3	49052461	49052461	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:49052461G>C	ENST00000395474.3	+	6	3476	c.3196G>C	c.(3196-3198)Gag>Cag	p.E1066Q	WDR6_ENST00000448293.1_Missense_Mutation_p.E985Q|WDR6_ENST00000415265.2_Missense_Mutation_p.E484Q|WDR6_ENST00000608424.1_Missense_Mutation_p.E1036Q	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1036					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCGTGTGCTAGAGGAATACTC	0.557000													8	44					0	0	0.004482	0	0
CPNE3	8895	broad.mit.edu	37	8	87568409	87568409	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:87568409C>T	ENST00000521271.1	+	16	1496	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	CPNE3_ENST00000198765.4_Missense_Mutation_p.S445F	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	445	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GTTAATGCCTCCAGGCTGCCT	0.448000													27	34					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	2965252	2965252	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:2965252C>T	ENST00000602557.1	-	46	7381	c.6826G>A	c.(6826-6828)Gat>Aat	p.D2276N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D2276N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2276N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D2276N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2275N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2276	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCGAAATCATCATCCTCA	0.348000													7	22					0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	41446974	41446974	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:41446974C>A	ENST00000400454.1	-	27	5355	c.4878G>T	c.(4876-4878)aaG>aaT	p.K1626N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1626					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCGCAGCCTCTTTAGCCTCT	0.597000													13	13					0.000151284	0.000162606	0.001855	1	0
NCOA1	8648	broad.mit.edu	37	2	24920634	24920634	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:24920634G>A	ENST00000405141.1	+	12	1627	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	NCOA1_ENST00000407230.1_Missense_Mutation_p.E155K|NCOA1_ENST00000406961.1_Missense_Mutation_p.E306K|NCOA1_ENST00000348332.3_Missense_Mutation_p.E306K|NCOA1_ENST00000395856.3_Missense_Mutation_p.E306K|NCOA1_ENST00000288599.5_Missense_Mutation_p.E306K|NCOA1_ENST00000538539.1_Missense_Mutation_p.E306K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	306									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGGCAGAGAACCATCTTA	0.383000			T	PAX3	alveolar rhadomyosarcoma								60	42					0	0	0.014410	0	0
CDH24	64403	broad.mit.edu	37	14	23521245	23521245	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:23521245C>T	ENST00000397359.3	-	9	1670	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	CDH24_ENST00000487137.2_Intron|CDH24_ENST00000554034.1_Intron|CDH24_ENST00000267383.5_Missense_Mutation_p.E471K	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	471	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCACTCCACTCAGCAACCAGA	0.617000													3	6					0	0	0.004672	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485682	37485682	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:37485682C>G	ENST00000381792.2	-	7	912	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E258Q|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E267Q|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E267Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E258Q			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	267	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCCCGGCACTCTGCCAGCGTC	0.677000													4	8					0	0	0.000602	0	0
DNAH1	25981	broad.mit.edu	37	3	52356504	52356504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:52356504C>T	ENST00000420323.2	+	2	307	c.46C>T	c.(46-48)Cag>Tag	p.Q16*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	16	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGACCCCTCAGGGCCCAGA	0.582000													8	24					0	0	0.006214	0	0
MED1	5469	broad.mit.edu	37	17	37580964	37580964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:37580964G>T	ENST00000300651.6	-	11	990	c.767C>A	c.(766-768)tCa>tAa	p.S256*	MED1_ENST00000394287.3_Nonsense_Mutation_p.S256*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	256	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				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)		AATTGTCACTGATGCATTCAT	0.368000										HNSCC(31;0.082)			21	135					4.4004e-07	4.8073e-07	0.003330	1	0
ARNT	405	broad.mit.edu	37	1	150786623	150786623	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:150786623G>C	ENST00000358595.5	-	20	2243	c.2043C>G	c.(2041-2043)ctC>ctG	p.L681L	ARNT_ENST00000515192.1_Silent_p.L667L|ARNT_ENST00000505755.1_Silent_p.L666L|ARNT_ENST00000354396.2_Silent_p.L679L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	681					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	p.L681L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGCACCAGGGAGGGACATGG	0.547000			T	ETV6	AML								32	95					0	0	0.010818	0	0
GLB1L2	89944	broad.mit.edu	37	11	134243663	134243663	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:134243663G>A	ENST00000535456.2	+	16	1744	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R519K|GLB1L2_ENST00000389881.3_Missense_Mutation_p.R519K	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	519					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AAAAACTTCAGAATCTATAGC	0.537000													39	84					0	0	0.006230	0	0
PC	5091	broad.mit.edu	37	11	66638843	66638843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:66638843C>T	ENST00000393960.1	-	6	711	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PC_ENST00000524491.1_Missense_Mutation_p.E104K|PC_ENST00000393955.2_Missense_Mutation_p.E144K|PC_ENST00000355677.3_Missense_Mutation_p.E144K|PC_ENST00000393958.2_Missense_Mutation_p.E144K	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	144	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGACCACTTCTGGGCTTGGC	0.642000													23	65					0	0	0.014323	0	0
CRYZ	1429	broad.mit.edu	37	1	75175793	75175793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:75175793C>T	ENST00000417775.1	-	7	1123	c.619G>A	c.(619-621)Gat>Aat	p.D207N	CRYZ_ENST00000370872.3_Missense_Mutation_p.D70N|CRYZ_ENST00000340866.5_Missense_Mutation_p.D207N|CRYZ_ENST00000370871.3_Missense_Mutation_p.D207N	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	207					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TTAATTTTATCAATGTAATTC	0.343000													8	27					0	0	0.004482	0	0
SLC7A5	8140	broad.mit.edu	37	16	87902652	87902652	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:87902652G>C	ENST00000261622.4	-	1	442	c.377C>G	c.(376-378)tCg>tGg	p.S126W		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	126					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GGCGGGCAGCGAGCCGTAGAC	0.637000													7	68					0	0	0.003080	0	0
MYO9A	4649	broad.mit.edu	37	15	72120270	72120270	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:72120270C>T	ENST00000356056.5	-	41	7610	c.7138G>A	c.(7138-7140)Gag>Aag	p.E2380K	MYO9A_ENST00000564571.1_Missense_Mutation_p.E2380K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2451K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E2361K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2380	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCAAATTCTCTGAGCTATCA	0.443000													14	64					0	0	0.001855	0	0
EFHB	151651	broad.mit.edu	37	3	19959798	19959798	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:19959798G>A	ENST00000295824.9	-	4	1264	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.S238F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	368					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTGATCGTGAGATTTTCCTAA	0.368000													72	207					0	0	0.014410	0	0
CADM2	253559	broad.mit.edu	37	3	86115847	86115847	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:86115847G>A	ENST00000383699.3	+	10	1756	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	CADM2_ENST00000407528.2_Missense_Mutation_p.E408K|CADM2_ENST00000405615.2_Missense_Mutation_p.E410K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	408					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TAAAGGAGCTGAAGATGCACC	0.383000													14	49					0	0	0.001855	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906119	47906119	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:47906119C>G	ENST00000289672.2	-	25	4040	c.3990G>C	c.(3988-3990)ctG>ctC	p.L1330L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1330	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAAACGACTCAGGATTCTGG	0.438000													35	45					0	0	0.003271	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419249	65419249	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:65419249G>A	ENST00000360768.3	+	3	598	c.493G>A	c.(493-495)Gag>Aag	p.E165K	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.R128Q	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	165						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TTACTTGAACGAGGCCTGGAA	0.493000													14	22					0	0	0.003163	0	0
C12orf55	144535	broad.mit.edu	37	12	97112230	97112230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:97112230C>G	ENST00000524981.4	+	49	6757	c.6734C>G	c.(6733-6735)tCa>tGa	p.S2245*						chromosome 12 open reading frame 55																		GAGATATATTCAAAGGATGAT	0.269000													17	58					0	0	0.006122	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724680	50724680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:50724680C>T	ENST00000449103.1	-	9	1939	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R600Q			O15031	PLXB2_HUMAN	plexin B2	600					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGTTGCCTCGTCTAAGGAG	0.642000													44	27					0	0	0.013114	0	0
ZNF816	125893	broad.mit.edu	37	19	53456122	53456122	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53456122C>G	ENST00000357666.4	-	4	372	c.72G>C	c.(70-72)ttG>ttC	p.L24F	ZNF816_ENST00000535506.1_Missense_Mutation_p.L24F|ZNF321P_ENST00000391777.3_Missense_Mutation_p.L24F|ZNF816_ENST00000270457.4_Missense_Mutation_p.L24F|ZNF816_ENST00000434371.2_Missense_Mutation_p.L24F|ZNF816_ENST00000444460.2_Missense_Mutation_p.L24F|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Missense_Mutation_p.L24F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CCCTGAAAGTCAAGCGTCCCT	0.408000													19	98					0	0	0.008871	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017828	161017828	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:161017828G>C	ENST00000368013.3	-	12	3303	c.2983C>G	c.(2983-2985)Ctt>Gtt	p.L995V	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.L784V|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.L818V	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	995					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCAAAGGAAAGACTACCCCCA	0.602000													32	67					0	0	0.009535	0	0
CHD4	1108	broad.mit.edu	37	12	6709556	6709556	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6709556C>T	ENST00000309577.6	-	9	1232	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	CHD4_ENST00000544040.1_Missense_Mutation_p.E350K|CHD4_ENST00000544484.1_Missense_Mutation_p.E354K|CHD4_ENST00000357008.2_Missense_Mutation_p.E357K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	357					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTCACCTCCTCCTCGCCTGGG	0.557000													18	68					0	0	0.004990	0	0
GPR125	166647	broad.mit.edu	37	4	22438265	22438265	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:22438265C>G	ENST00000334304.5	-	9	1355		c.e9-1		GPR125_ENST00000502482.1_Splice_Site|GPR125_ENST00000508133.1_Splice_Site|GPR125_ENST00000282943.5_Splice_Site	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125						neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCTGGGCCATCTAGAGATGAA	0.418000													7	50					0	0	0.003080	0	0
NRBP1	29959	broad.mit.edu	37	2	27662685	27662685	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27662685G>C	ENST00000233557.3	+	12	1788	c.956G>C	c.(955-957)aGa>aCa	p.R319T	NRBP1_ENST00000379852.3_Missense_Mutation_p.R319T|NRBP1_ENST00000379863.3_Missense_Mutation_p.R327T			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	319	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAACAGCCAGAGAACTTCTG	0.542000													24	128					0	0	0.003330	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146246	70146246	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:70146246C>G	ENST00000335568.5	+	1	30	c.28C>G	c.(28-30)Ctg>Gtg	p.L10V	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L10V	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	10					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTCAGTTCTTCTGCTGATACA	0.413000													28	160					0	0	0.012213	0	0
CCDC81	60494	broad.mit.edu	37	11	86108702	86108702	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:86108702G>C	ENST00000278487.3	+	6	1103	c.24G>C	c.(22-24)gaG>gaC	p.E8D	CCDC81_ENST00000354755.1_Missense_Mutation_p.E135D|CCDC81_ENST00000528728.1_Missense_Mutation_p.E8D|CCDC81_ENST00000445632.2_Missense_Mutation_p.E225D			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	225										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TGCCTATGGAGACCCTTGTAG	0.433000													6	22					0	0	0.003080	0	0
OR5D13	390142	broad.mit.edu	37	11	55541258	55541258	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:55541258C>T	ENST00000361760.1	+	1	345	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAGAAACTTTCATGTTAGCAG	0.423000													35	88					0	0	0.003755	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441822	140441822	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:140441822G>C	ENST00000406427.1	-	3	468	c.132C>G	c.(130-132)ctC>ctG	p.L44L	PNPLA7_ENST00000277531.4_Silent_p.L19L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	19					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCAGGGCCAGGAGGGCTCCAA	0.587000													9	99					0	0	0.004482	0	0
LCAT	3931	broad.mit.edu	37	16	67974011	67974011	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:67974011C>A	ENST00000264005.5	-	6	1148	c.1119G>T	c.(1117-1119)gcG>gcT	p.A373A		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	373					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCTGCGGGTCGCCACCGTGT	0.652000													41	351					4.07013e-28	4.61156e-28	0.008740	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217353	244217353	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:244217353G>C	ENST00000358704.4	+	2	426	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		ATTCATGTATGAAGGGAAACT	0.453000													6	40					0	0	0.001168	0	0
SNRNP40	9410	broad.mit.edu	37	1	31762255	31762255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:31762255G>C	ENST00000263694.4	-	4	395	c.377C>G	c.(376-378)tCa>tGa	p.S126*	SNRNP40_ENST00000446633.2_Nonsense_Mutation_p.S126*	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	126						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TGTGGATGCTGAGAAAAGCAT	0.363000													64	81					0	0	0.014410	0	0
OFD1	8481	broad.mit.edu	37	X	13776489	13776489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:13776489C>G	ENST00000380567.1	+	16	2028	c.1156C>G	c.(1156-1158)Cta>Gta	p.L386V	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.L526V|OFD1_ENST00000380550.3_Missense_Mutation_p.L486V			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	526					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGCCCAGATTCTAGGTTACAA	0.368000													8	33					0	0	0.003080	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451536	43451536	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:43451536G>A	ENST00000282388.3	-	2	1700	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	469					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CAGAGCCGCTGAGGCTGCCGG	0.701000													7	3					0	0	0.001984	0	0
GLA	2717	broad.mit.edu	37	X	100653916	100653916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:100653916G>A	ENST00000218516.3	-	5	679	c.658C>T	c.(658-660)Cga>Tga	p.R220*	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	220					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CAGTACTGTCGGATTTCTGTA	0.373000													20	136					0	0	0.008871	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924502	105924502	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:105924502G>A	ENST00000393359.2	-	2	683	c.257C>T	c.(256-258)tCa>tTa	p.S86L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S86L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	86	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTTGAGTGCTGAGGCCGCACG	0.622000													6	29					0	0	0.001168	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553228	44553228	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:44553228G>C	ENST00000289547.4	-	20	3953	c.3898C>G	c.(3898-3900)Ctg>Gtg	p.L1300V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.L1227V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.L1273V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1300					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCAGTGCCAGAGCCGGGTTA	0.587000													12	37					0	0	0.010729	0	0
DOK1	1796	broad.mit.edu	37	2	74783831	74783831	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:74783831C>A	ENST00000233668.5	+	5	1705	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.Q207K|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	346					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCATGCGCAGCAGCAGTTGCT	0.557000													9	43					1.12685e-05	1.22194e-05	0.004482	1	0
STK11IP	114790	broad.mit.edu	37	2	220476511	220476511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:220476511C>G	ENST00000456909.1	+	18	2380	c.2290C>G	c.(2290-2292)Cag>Gag	p.Q764E	STK11IP_ENST00000295641.10_Missense_Mutation_p.Q775E			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	775					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCCCACCTCAGGCACCGAG	0.592000													13	12					0	0	0.001855	0	0
HIPK3	10114	broad.mit.edu	37	11	33370803	33370803	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:33370803C>T	ENST00000303296.4	+	14	3082	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	HIPK3_ENST00000456517.1_Missense_Mutation_p.S905F|HIPK3_ENST00000379016.3_Missense_Mutation_p.S905F|HIPK3_ENST00000525975.1_Missense_Mutation_p.S905F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	926	Interaction with AR (By similarity).|Required for localization to nuclear speckles (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCAGGGCAGTCCAGCCCATCC	0.413000													15	21					0	0	0.002450	0	0
POGLUT1	56983	broad.mit.edu	37	3	119187927	119187927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:119187927C>G	ENST00000295588.4	+	1	143	c.59C>G	c.(58-60)tCa>tGa	p.S20*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	20						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTCCTGCCCTCAGCGCAGGGC	0.726000													3	25					0	0	0.004672	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266437	85266437	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:85266437C>T	ENST00000266682.5	-	8	1787	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	SLC6A15_ENST00000552192.1_Missense_Mutation_p.E309K|SLC6A15_ENST00000309283.7_Missense_Mutation_p.E124K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	416					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GGAAACTCTTCTTCTTTCACT	0.308000													15	21					0	0	0.004007	0	0
GLI2	2736	broad.mit.edu	37	2	121726472	121726472	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:121726472C>T	ENST00000452319.1	+	6	886	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	GLI2_ENST00000361492.4_Silent_p.L276L|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	276					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTACGGGCATCTGTCAGCGGG	0.662000													5	40					0	0	0.001168	0	0
PPM1G	5496	broad.mit.edu	37	2	27609064	27609064	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27609064C>T	ENST00000344034.4	-	3	537	c.273G>A	c.(271-273)caG>caA	p.Q91Q	PPM1G_ENST00000350803.4_Silent_p.Q91Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	91					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACAGACCTTCTGTAGCTTGC	0.473000													38	228					0	0	0.005524	0	0
ZMYM3	9203	broad.mit.edu	37	X	70471043	70471043	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:70471043C>G	ENST00000373998.1	-	4	1460	c.763G>C	c.(763-765)Gat>Cat	p.D255H	ZMYM3_ENST00000373981.1_Missense_Mutation_p.D255H|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D257H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D255H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.D255H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.D257H|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	255					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCAGTGGAATCTACAACCTCA	0.537000													40	21					0	0	0.013114	0	0
MUC6	4588	broad.mit.edu	37	11	1016797	1016797	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:1016797G>C	ENST00000421673.2	-	31	6054	c.6004C>G	c.(6004-6006)Cag>Gag	p.Q2002E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2002	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)		AGTGTGGTCTGAGGGTGTGAT	0.537000													21	1208					0	0	0.003163	0	0
BRCA2	675	broad.mit.edu	37	13	32914137	32914137	+	Nonsense_Mutation	SNP	C	C	G	rs80358785		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:32914137C>G	ENST00000544455.1	+	11	5872	c.5645C>G	c.(5644-5646)tCa>tGa	p.S1882*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S1882*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1882					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S1882*(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGAATAAATCAAAAATTTGC	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	24					0	0	0.002450	0	0
CDK11B	984	broad.mit.edu	37	1	1575811	1575811	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:1575811G>A	ENST00000407249.3	-	12	1086	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	CDK11B_ENST00000341832.6_Missense_Mutation_p.P316S|CDK11B_ENST00000340677.5_Missense_Mutation_p.P350S|CDK11B_ENST00000317673.7_Missense_Mutation_p.P361S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	373	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGTGACTCTGGAACTGGAAAA	0.587000													7	21					0	0	0.010729	0	0
GSAP	54103	broad.mit.edu	37	7	77006210	77006210	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:77006210G>C	ENST00000257626.7	-	10	774	c.696C>G	c.(694-696)atC>atG	p.I232M		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TACATTTTAAGATACTCCTTG	0.313000													11	28					0	0	0.013537	0	0
PC	5091	broad.mit.edu	37	11	66639245	66639245	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:66639245C>G	ENST00000393960.1	-	5	515	c.234G>C	c.(232-234)caG>caC	p.Q78H	PC_ENST00000524491.1_Missense_Mutation_p.Q38H|PC_ENST00000393955.2_Missense_Mutation_p.Q78H|PC_ENST00000355677.3_Missense_Mutation_p.Q78H|PC_ENST00000393958.2_Missense_Mutation_p.Q78H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	78	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATCTGCTTTCTGCCGGTGCA	0.627000													4	4					0	0	0.009096	0	0
BRIX1	55299	broad.mit.edu	37	5	34922655	34922655	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:34922655C>T	ENST00000336767.5	+	5	761	c.398C>T	c.(397-399)tCa>tTa	p.S133L	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	133	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CTTTCAAATTCACCTCACGGA	0.294000													20	36					0	0	0.012319	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997349	146997349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:146997349C>T	ENST00000361727.3	+	9	1981	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	489	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTCCCCTTCAAGTTAAAAC	0.403000										HNSCC(39;0.1)			35	45					0	0	0.003271	0	0
ZNF761	388561	broad.mit.edu	37	19	53945946	53945946	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53945946G>A	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCTTTACCTGAGGGCTGATC	0.562000													5	8					0	0	0.001168	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442094	103442094	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:103442094G>C	ENST00000361246.2	-	11	1722	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	478					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGAATTGCTGAGGGCCCGAG	0.507000													43	170					0	0	0.011902	0	0
DNAJC2	27000	broad.mit.edu	37	7	102968139	102968139	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:102968139C>T	ENST00000379263.3	-	4	644	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.E132K	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	132	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTATCTCCTTCTTTTATTGGT	0.323000													12	40					0	0	0.001855	0	0
CCDC121	79635	broad.mit.edu	37	2	27850291	27850291	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27850291C>T	ENST00000324364.3	-	2	556	c.376G>A	c.(376-378)Gag>Aag	p.E126K	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.E288K	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	126										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TTTGTCTCCTCCTGTAATGTC	0.438000													91	99					0	0	0.014410	0	0
DGKK	139189	broad.mit.edu	37	X	50146091	50146091	+	RNA	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:50146091G>C	ENST00000376025.2	-	0	1335							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CGGAAGTCTTGAAGTCTTTGA	0.478000													3	12					0	0	0.009096	0	0
NBPF1	55672	broad.mit.edu	37	1	16907973	16907973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16907973C>T	ENST00000430580.2	-	15	2208	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	441	NBPF 2.					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)		TCTTCATCCTCATCTTCGTCA	0.428000													57	773					0	0	0.014410	0	0
CUL9	23113	broad.mit.edu	37	6	43189453	43189453	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:43189453C>T	ENST00000252050.4	+	35	6867	c.6783C>T	c.(6781-6783)ttC>ttT	p.F2261F	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.F2151F|CUL9_ENST00000372647.2_Silent_p.F2233F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2261					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCATGGATTCTGCTGGCGCT	0.587000													7	13					0	0	0.003080	0	0
MKI67	4288	broad.mit.edu	37	10	129899861	129899861	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:129899861C>T	ENST00000368654.3	-	14	9741	c.9366G>A	c.(9364-9366)aaG>aaA	p.K3122K	MKI67_ENST00000368653.3_Silent_p.K2762K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3122					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATGGGCTTCTTTTCATTTC	0.438000													18	69					0	0	0.004990	0	0
KLHL6	89857	broad.mit.edu	37	3	183210302	183210302	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:183210302C>T	ENST00000341319.3	-	6	1579	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	515										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GATGCGGTCCCGGAAACTCAC	0.527000													13	38					0	0	0.003163	0	0
TRMT61B	55006	broad.mit.edu	37	2	29083989	29083989	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:29083989C>G	ENST00000306108.5	-	3	1011	c.988G>C	c.(988-990)Gac>Cac	p.D330H	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	330							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTTACTGCGTCAAATGTTAAA	0.378000													9	61					0	0	0.008291	0	0
ATP11B	23200	broad.mit.edu	37	3	182631746	182631746	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:182631746G>A	ENST00000323116.5	+	29	3676	c.3416G>A	c.(3415-3417)cGa>cAa	p.R1139Q		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1139					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGGAACGAGTTATAGGA	0.468000													79	216					0	0	0.014410	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200708958	200708958	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:200708958G>A	ENST00000358823.2	+	1	273	c.3G>A	c.(1-3)atG>atA	p.M1I	CAMSAP2_ENST00000236925.4_Start_Codon_SNP_p.M1I|CAMSAP2_ENST00000413307.2_Start_Codon_SNP_p.M1I	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1						cytoplasm|microtubule	protein binding										GGTGAAAGATGGGGGATGCTG	0.587000													11	15					0	0	0.008291	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747183	10747183	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10747183C>T	ENST00000586078.1	+	15	1527	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	SLC44A2_ENST00000407327.4_Missense_Mutation_p.A471V|SLC44A2_ENST00000335757.5_Missense_Mutation_p.A473V	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	473					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGGGCCTTTGCCTCCTACTAC	0.672000													51	45					0	0	0.014410	0	0
AIFM1	9131	broad.mit.edu	37	X	129281848	129281848	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:129281848G>A	ENST00000287295.3	-	4	583	c.353C>T	c.(352-354)tCa>tTa	p.S118L	AIFM1_ENST00000319908.3_Missense_Mutation_p.S114L|AIFM1_ENST00000535724.1_Missense_Mutation_p.S31L|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	118					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTCTCCTTCTGAAGCTGAAAG	0.458000													48	80					0	0	0.014410	0	0
ZNF7	7553	broad.mit.edu	37	8	146067806	146067806	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:146067806G>C	ENST00000528372.1	+	5	1554	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	ZNF7_ENST00000446747.2_Missense_Mutation_p.E449D|ZNF7_ENST00000325241.6_Missense_Mutation_p.E438D|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.E342D			P17097	ZNF7_HUMAN	zinc finger protein 7	438					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		ACACTGGAGAGAAGCCTTATA	0.428000													33	29					0	0	0.003271	0	0
NUP35	129401	broad.mit.edu	37	2	183993166	183993166	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:183993166G>A	ENST00000295119.4	+	2	295	c.192G>A	c.(190-192)atG>atA	p.M64I	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.M47I	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	64					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TAATGGAAATGAGATCACCTT	0.423000													6	32					0	0	0.001168	0	0
HTATSF1	27336	broad.mit.edu	37	X	135592320	135592320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:135592320G>A	ENST00000535601.1	+	9	1426	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.R335K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	335	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTCGATGGAAGATGGTTTGGT	0.458000													89	158					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3778370	3778370	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:3778370C>T	ENST00000262367.5	-	31	7487	c.6678G>A	c.(6676-6678)gcG>gcA	p.A2226A	CREBBP_ENST00000382070.3_Silent_p.A2188A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2226					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)		GGCCGTGCCCCGCCATGCCCC	0.667000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	12					0	0	0.004482	0	0
DOCK8	81704	broad.mit.edu	37	9	429827	429827	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:429827C>G	ENST00000432829.2	+	36	4711	c.4395C>G	c.(4393-4395)ctC>ctG	p.L1465L	DOCK8_ENST00000382329.1_Silent_p.L1000L|DOCK8_ENST00000453981.1_Silent_p.L1533L|DOCK8_ENST00000469391.1_Silent_p.L1433L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1533	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTACCTCCTCATGAGGTTCA	0.498000													13	11					0	0	0.013537	0	0
IGSF22	283284	broad.mit.edu	37	11	18741299	18741299	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:18741299C>G	ENST00000513874.1	-	7	799	c.660G>C	c.(658-660)agG>agC	p.R220S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	220	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTTGAGCTTCCTGAGCAGCC	0.517000													4	240					0	0	0.009096	0	0
BTBD8	284697	broad.mit.edu	37	1	92595329	92595329	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:92595329C>G	ENST00000370382.3	+	5	1015	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	BTBD8_ENST00000540648.1_Missense_Mutation_p.Q250E|BTBD8_ENST00000342818.3_Missense_Mutation_p.Q250E			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	250	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CGTTACTCTTCAAGGGTAAGC	0.408000													13	18					0	0	0.001855	0	0
PSMD3	5709	broad.mit.edu	37	17	38151284	38151284	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:38151284C>G	ENST00000264639.4	+	7	1233	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	PSMD3_ENST00000541736.1_Silent_p.L215L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AGCCCTCCCTCAAGCGCTCAC	0.607000													19	172					0	0	0.006122	0	0
TTLL8	164714	broad.mit.edu	37	22	50471744	50471744	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:50471744G>C	ENST00000266182.6	-	10	1169	c.1170C>G	c.(1168-1170)ttC>ttG	p.F390L	TTLL8_ENST00000440475.1_Missense_Mutation_p.F370L					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCTGATGTCGAACTTGGTGT	0.562000													4	6					0	0	0.009096	0	0
TCF3	6929	broad.mit.edu	37	19	1615480	1615480	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:1615480C>G	ENST00000262965.5	-	18	1970	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	TCF3_ENST00000395423.3_Missense_Mutation_p.Q546H|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	542					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCTCGGCCTTCTGCTCTGGGG	0.682000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								17	40					0	0	0.004007	0	0
C9orf172	389813	broad.mit.edu	37	9	139740992	139740992	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:139740992G>A	ENST00000436881.1	+	1	2126	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	709										endometrium(2)|large_intestine(1)|lung(6)	9						CACAAGGCGCGCTGCGTGTAC	0.672000													16	13					0	0	0.003163	0	0
PPARG	5468	broad.mit.edu	37	3	12422876	12422876	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:12422876C>G	ENST00000397026.2	+	5	683	c.300C>G	c.(298-300)ctC>ctG	p.L100L	PPARG_ENST00000309576.6_Silent_p.L94L|PPARG_ENST00000397000.1_Silent_p.L94L|PPARG_ENST00000287820.6_Silent_p.L122L|PPARG_ENST00000397010.2_Silent_p.L94L|PPARG_ENST00000539812.1_Silent_p.L92L|PPARG_ENST00000397015.2_Silent_p.L94L|PPARG_ENST00000397012.2_Silent_p.L94L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	122					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGACTCAGCTCTACAATAAGC	0.433000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						19	17					0	0	0.006122	0	0
LRRC23	10233	broad.mit.edu	37	12	7015816	7015816	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:7015816G>A	ENST00000007969.8	+	4	700	c.480G>A	c.(478-480)ctG>ctA	p.L160L	LRRC23_ENST00000433346.1_Silent_p.L160L|LRRC23_ENST00000323702.5_Silent_p.L160L|LRRC23_ENST00000443597.2_Silent_p.L160L|LRRC23_ENST00000436789.1_Silent_p.L160L|LRRC23_ENST00000429740.1_Silent_p.L160L	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	160										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TTGAAACCCTGAATCTCAAAG	0.483000													41	94					0	0	0.007835	0	0
AGPAT2	10555	broad.mit.edu	37	9	139568262	139568262	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:139568262G>C	ENST00000371696.2	-	6	844	c.779C>G	c.(778-780)tCc>tGc	p.S260C	AGPAT2_ENST00000371694.3_Missense_Mutation_p.S228C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S260C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	260					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGGGGTCTTGGAGATGTGGAG	0.697000													3	5					0	0	0.009096	0	0
TTC39A	22996	broad.mit.edu	37	1	51777794	51777794	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:51777794C>T	ENST00000262676.5	-	4	503	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	TTC39A_ENST00000371747.3_Missense_Mutation_p.E118K|TTC39A_ENST00000451380.1_Missense_Mutation_p.E118K|TTC39A_ENST00000447632.2_Missense_Mutation_p.E119K|TTC39A_ENST00000262675.7_Missense_Mutation_p.E91K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E119K|TTC39A_ENST00000413473.2_Missense_Mutation_p.E122K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	119							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GCCACACCTTCAGTGAATTGG	0.582000													4	6					0	0	0.000602	0	0
EPRS	2058	broad.mit.edu	37	1	220219717	220219717	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:220219717G>C	ENST00000366923.3	-	1	283	c.14C>G	c.(13-15)tCt>tGt	p.S5C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	5					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACGGTCAGAGAGAGCGTCGC	0.612000													6	21					0	0	0.003080	0	0
PRR23B	389151	broad.mit.edu	37	3	138739047	138739047	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:138739047C>T	ENST00000329447.5	-	1	721	c.457G>A	c.(457-459)Gag>Aag	p.E153K	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	153										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGTAGGCCTCTTCCTGGGCG	0.642000													15	47					0	0	0.004007	0	0
SPG7	6687	broad.mit.edu	37	16	89590431	89590431	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:89590431G>A	ENST00000268704.2	+	4	409	c.394G>A	c.(394-396)Gag>Aag	p.E132K	SPG7_ENST00000341316.2_Missense_Mutation_p.E132K	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	132					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGACGCCGTGAGCGGGACGA	0.587000													9	11					0	0	0.006214	0	0
PVRL4	81607	broad.mit.edu	37	1	161043069	161043069	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:161043069C>T	ENST00000368012.3	-	8	1556	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	PVRL4_ENST00000453926.2_Intron|PVRL4_ENST00000486694.1_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	418					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCGGCTCTCAGCCCTACAC	0.657000													16	24					0	0	0.006122	0	0
DRAM1	55332	broad.mit.edu	37	12	102314993	102314993	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:102314993G>C	ENST00000258534.8	+	7	1111		c.e7-1		DRAM1_ENST00000544152.1_Splice_Site	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1						apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTTAAAAATAGAGTGTCACCC	0.378000													27	39					0	0	0.005443	0	0
BEND2	139105	broad.mit.edu	37	X	18209134	18209134	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:18209134G>A	ENST00000380033.4	-	8	1407	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	BEND2_ENST00000380030.3_Silent_p.L334L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	425										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCGGGAGTGAGGCAGGCAG	0.383000													25	38					0	0	0.003954	0	0
SYN1	6853	broad.mit.edu	37	X	47478941	47478941	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:47478941G>C	ENST00000295987.7	-	1	311	c.187C>G	c.(187-189)Ccg>Gcg	p.P63A	SYN1_ENST00000340666.4_Missense_Mutation_p.P63A	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	63	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGGGCGGCCGGAGAGGCCGCT	0.776000													3	6					0	0	0.004672	0	0
ABHD10	55347	broad.mit.edu	37	3	111700672	111700672	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:111700672G>C	ENST00000273359.3	+	2	211	c.184G>C	c.(184-186)Gac>Cac	p.D62H	ABHD10_ENST00000494817.1_Missense_Mutation_p.D62H|ABHD10_ENST00000534857.1_Intron	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	62						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						TAATCGACCAGACCTTCCAAA	0.378000													50	71					0	0	0.014410	0	0
CACTIN	58509	broad.mit.edu	37	19	3623860	3623860	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:3623860C>T	ENST00000429344.2	-	2	520	c.468G>A	c.(466-468)ctG>ctA	p.L156L	CACTIN_ENST00000221899.3_Silent_p.L88L|CACTIN_ENST00000248420.5_Silent_p.L156L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		AGGCCTTCATCAGCTCCTCCT	0.706000													8	16					0	0	0.003080	0	0
PXN	5829	broad.mit.edu	37	12	120650123	120650123	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:120650123G>C	ENST00000397506.3	-	9	2259	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	PXN_ENST00000458477.2_Missense_Mutation_p.F423L|PXN_ENST00000536957.1_Missense_Mutation_p.F588L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.F556L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000267257.7_Missense_Mutation_p.F604L|PXN_ENST00000228307.7_Missense_Mutation_p.F590L|PXN_ENST00000538144.1_5'UTR			P49023	PAXI_HUMAN	paxillin	590	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACCTAGCAGAAGAGCTTGA	0.582000													5	16					0	0	0.000602	0	0
BOC	91653	broad.mit.edu	37	3	112999991	112999991	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:112999991G>A	ENST00000495514.1	+	15	3126	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	BOC_ENST00000273395.4_Missense_Mutation_p.E809K|BOC_ENST00000355385.3_Missense_Mutation_p.E808K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	808	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GATGATCTGTGAGACCAAAGG	0.552000													24	35					0	0	0.014323	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963659	39963659	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:39963659C>T	ENST00000599117.1	+	24	2530	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	SUPT5H_ENST00000432763.2_Silent_p.I721I|SUPT5H_ENST00000598725.1_Silent_p.I721I|SUPT5H_ENST00000359191.6_Silent_p.I717I|SUPT5H_ENST00000402194.2_Silent_p.I717I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	721	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGCTACATCGGTGTGGTGA	0.647000													7	42					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92086113	92086113	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:92086113G>A	ENST00000298047.6	+	1	852	c.835G>A	c.(835-837)Gag>Aag	p.E279K	FAT3_ENST00000409404.2_Missense_Mutation_p.E279K|FAT3_ENST00000541502.1_Missense_Mutation_p.E279K|FAT3_ENST00000525166.1_Missense_Mutation_p.E129K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	279	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGGAAAAAGAGCCAACATA	0.433000										TCGA Ovarian(4;0.039)			17	41					0	0	0.004007	0	0
ASAP2	8853	broad.mit.edu	37	2	9474903	9474903	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:9474903C>G	ENST00000281419.3	+	8	1063	c.723C>G	c.(721-723)ctC>ctG	p.L241L	ASAP2_ENST00000315273.4_Silent_p.L241L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	241					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAAAGCCTCAAACCTTCCA	0.403000													36	15					0	0	0.007835	0	0
KRT84	3890	broad.mit.edu	37	12	52774311	52774311	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:52774311G>A	ENST00000257951.3	-	7	1326	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	420	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCATCACTGAGGGTCGCCT	0.637000											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	28					0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152652902	152652902	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:152652902C>T	ENST00000367255.5	-	78	13519	c.12918G>A	c.(12916-12918)ctG>ctA	p.L4306L	SYNE1_ENST00000341594.5_Silent_p.L4171L|SYNE1_ENST00000423061.1_Silent_p.L4235L|SYNE1_ENST00000265368.4_Silent_p.L4306L|SYNE1_ENST00000448038.1_Silent_p.L4235L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4306					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)		CATCTAAATTCAGATGCTCTA	0.388000										HNSCC(10;0.0054)			46	36					0	0	0.014410	0	0
COL19A1	1310	broad.mit.edu	37	6	70861288	70861288	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:70861288G>A	ENST00000322773.4	+	31	2139		c.e31-1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTAACCACAGATTGCACTTC	0.318000													18	28					0	0	0.012319	0	0
ADCY8	114	broad.mit.edu	37	8	131826425	131826425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:131826425C>G	ENST00000286355.5	-	14	4895	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.E804Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	935					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGATCTCCTCTTTGGCCTGT	0.512000										HNSCC(32;0.087)			27	60					0	0	0.005443	0	0
ZNF557	79230	broad.mit.edu	37	19	7083354	7083354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:7083354G>C	ENST00000414706.1	+	8	1365	c.892G>C	c.(892-894)Gga>Cga	p.G298R	ZNF557_ENST00000439035.2_Missense_Mutation_p.G291R|ZNF557_ENST00000252840.6_Missense_Mutation_p.G298R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TAATCAGTGTGGAAAGGCTTT	0.473000													14	44					0	0	0.001855	0	0
TET2	54790	broad.mit.edu	37	4	106156087	106156087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:106156087G>A	ENST00000513237.1	+	3	1848	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	TET2_ENST00000380013.4_Missense_Mutation_p.E330K|TET2_ENST00000305737.2_Missense_Mutation_p.E330K|TET2_ENST00000545826.1_Missense_Mutation_p.E330K|TET2_ENST00000394764.1_Missense_Mutation_p.E330K|TET2_ENST00000540549.1_Missense_Mutation_p.E330K|TET2_ENST00000413648.2_Missense_Mutation_p.E330K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	330					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E330fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATCAGTTTTTGAGATATGCCC	0.418000			"""Mis N, F"""		MDS								23	14					0	0	0.014323	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646204	228646204	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:228646204C>G	ENST00000369160.2	+	1	397	c.374C>G	c.(373-375)tCc>tGc	p.S125C		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	125					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				TACACCAGCTCCAAGTGAGGC	0.607000													13	57					0	0	0.013537	0	0
GANAB	23193	broad.mit.edu	37	11	62394085	62394085	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:62394085C>T	ENST00000346178.4	-	22	2550	c.2535G>A	c.(2533-2535)atG>atA	p.M845I	GANAB_ENST00000356638.3_Missense_Mutation_p.M823I|GANAB_ENST00000534779.1_Missense_Mutation_p.M731I|GANAB_ENST00000540933.1_Missense_Mutation_p.M726I	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	823					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGTCATCCTTCATACATTCTG	0.537000													5	13					0	0	0.000602	0	0
MFI2	4241	broad.mit.edu	37	3	196754710	196754710	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:196754710C>G	ENST00000296350.5	-	2	234	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	MFI2_ENST00000296351.4_Missense_Mutation_p.E41Q	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	41	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGGAAGGCCTCGCTCATGTTG	0.701000													6	18					0	0	0.001168	0	0
MCAT	27349	broad.mit.edu	37	22	43538972	43538972	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:43538972G>A	ENST00000290429.6	-	1	428	c.383C>T	c.(382-384)tCg>tTg	p.S128L	MCAT_ENST00000327555.5_Missense_Mutation_p.S128L|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	p.S128L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				AGCGGCCAGCGATGCCACGAA	0.682000													7	1					0	0	0.001984	0	0
CCDC146	57639	broad.mit.edu	37	7	76888351	76888351	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:76888351G>A	ENST00000285871.4	+	7	851	c.724G>A	c.(724-726)Gga>Aga	p.G242R	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	242										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGTACAAATTGGAAAAGAGAT	0.353000													4	16					0	0	0.000602	0	0
DRGX	644168	broad.mit.edu	37	10	50599215	50599215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:50599215G>A	ENST00000374139.2	-	2	137	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	DRGX_ENST00000434016.1_Nonsense_Mutation_p.Q48*			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	48					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGTACCTGCTGAAGAGTGAAC	0.468000													6	5					0	0	0.001984	0	0
MID1	4281	broad.mit.edu	37	X	10450524	10450524	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:10450524C>T	ENST00000317552.4	-	5	1409	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	MID1_ENST00000380780.1_Missense_Mutation_p.E337K|MID1_ENST00000380779.1_Missense_Mutation_p.E337K|MID1_ENST00000380787.1_Missense_Mutation_p.E337K|MID1_ENST00000380782.2_Missense_Mutation_p.E337K|MID1_ENST00000453318.2_Missense_Mutation_p.E337K|MID1_ENST00000380785.1_Missense_Mutation_p.E337K	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	337	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACTCACCTCTCGGTGATATTC	0.517000													38	106					0	0	0.006999	0	0
ARNT2	9915	broad.mit.edu	37	15	80872783	80872783	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:80872783G>A	ENST00000533983.1	+	17	1951	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	ARNT2_ENST00000527771.1_Missense_Mutation_p.D538N|ARNT2_ENST00000303329.4_Missense_Mutation_p.D549N|RP11-379K22.3_ENST00000603875.1_RNA			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	549					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGGAGTGAATGATATTCAGTC	0.522000													18	70					0	0	0.004990	0	0
NKG7	4818	broad.mit.edu	37	19	51875520	51875520	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:51875520G>A	ENST00000221978.5	-	2	378	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	NKG7_ENST00000595217.1_Intron|NKG7_ENST00000600427.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	67						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGCCCACAGAACAGCCATA	0.622000													30	115					0	0	0.007291	0	0
AGAP5	729092	broad.mit.edu	37	10	75434492	75434492	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:75434492G>A	ENST00000443782.2	-	7	1982	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	AGAP5_ENST00000374094.4_Silent_p.L642L|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	642					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACCAGATCAGGAGCTGTGCCA	0.662000													7	190					0	0	0.003080	0	0
DDX11	1663	broad.mit.edu	37	12	31255897	31255897	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:31255897C>T	ENST00000407793.2	+	24	2651	c.2400C>T	c.(2398-2400)ttC>ttT	p.F800F	DDX11_ENST00000350437.4_Silent_p.F750F|DDX11_ENST00000545668.1_Silent_p.F800F|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.F800F|DDX11_ENST00000228264.6_Silent_p.F774F	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	800					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCATGCCCTTCCCCAACATCA	0.612000										Multiple Myeloma(12;0.14)			11	24					0	0	0.003163	0	0
ECH1	1891	broad.mit.edu	37	19	39322115	39322115	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:39322115G>A	ENST00000221418.4	-	2	326	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	AC104534.3_ENST00000594769.1_Silent_p.F201F|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCAGTGAGGCGAAGGCTAATA	0.572000													8	24					0	0	0.003080	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715326	92715326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:92715326C>T	ENST00000257068.2	+	2	943	c.937C>T	c.(937-939)Caa>Taa	p.Q313*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	313					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTCTTGAACCAAAACTTCCG	0.527000													52	169					0	0	0.014410	0	0
BPTF	2186	broad.mit.edu	37	17	65907937	65907937	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:65907937G>C	ENST00000321892.4	+	13	4376	c.4315G>C	c.(4315-4317)Gaa>Caa	p.E1439Q	BPTF_ENST00000424123.3_Missense_Mutation_p.E1300Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E1439Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E1313Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1439					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAATAGCAATGAAAGCATTTC	0.403000													33	18					0	0	0.013726	0	0
ZNF559	84527	broad.mit.edu	37	19	9452837	9452837	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:9452837G>C	ENST00000393883.2	+	6	1358	c.710G>C	c.(709-711)gGa>gCa	p.G237A	ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.G301A|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.G157A|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.G237A|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ACTCAAGATGGAGAAAAATTC	0.363000													14	77					0	0	0.001855	0	0
SYP	6855	broad.mit.edu	37	X	49050799	49050799	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:49050799C>T	ENST00000263233.4	-	4	319	c.247G>A	c.(247-249)Gat>Aat	p.D83N	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.D83N	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	83	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GTGGGTGCATCAAAGTACACT	0.587000													11	36					0	0	0.013537	0	0
DPY30	84661	broad.mit.edu	37	2	32264363	32264363	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32264363G>A	ENST00000342166.5	-	3	184	c.69C>T	c.(67-69)ctC>ctT	p.L23L	DPY30_ENST00000295066.3_Silent_p.L23L			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	23					endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					CGTTGTCTGTGAGACCGTACT	0.493000													55	33					0	0	0.014410	0	0
OR1L6	392390	broad.mit.edu	37	9	125512726	125512726	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:125512726G>A	ENST00000373684.1	+	1	708	c.708G>A	c.(706-708)gtG>gtA	p.V236V	OR1L6_ENST00000304720.2_Silent_p.V200V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						AGATGGTGGTGATGACTGAGA	0.512000													42	35					0	0	0.014410	0	0
PTPRR	5801	broad.mit.edu	37	12	71286737	71286737	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:71286737C>T	ENST00000283228.2	-	2	531	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	27					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAAAAATGATCATTGTTTCCT	0.383000													41	63					0	0	0.009718	0	0
CNTN5	53942	broad.mit.edu	37	11	99942518	99942518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:99942518G>A	ENST00000524871.1	+	12	1671	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E461K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E461K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E461K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E387K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	461	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTGTTTGGCTGAAAATAAGTA	0.348000													6	6					0	0	0.001984	0	0
KLK2	3817	broad.mit.edu	37	19	51379980	51379980	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:51379980C>T	ENST00000325321.3	+	3	684	c.459C>T	c.(457-459)taC>taT	p.Y153Y	KLK2_ENST00000358049.4_Silent_p.Y153Y|KLK2_ENST00000391810.2_Silent_p.Y51Y			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	153	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCACCTGCTACGCCTCAGGCT	0.632000			T	ETV4	prostate								10	26					0	0	0.008291	0	0
ZNF703	80139	broad.mit.edu	37	8	37553684	37553684	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:37553684C>T	ENST00000331569.4	+	1	416	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	63					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CACCGGTCACCTCCTGCACCC	0.721000													6	8					0	0	0.001168	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103412833	103412833	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:103412833G>C	ENST00000361246.2	-	28	4008	c.3720C>G	c.(3718-3720)atC>atG	p.I1240M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1240	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGATGGCCTTGATGAGAGGCA	0.557000													7	35					0	0	0.001984	0	0
BLM	641	broad.mit.edu	37	15	91347468	91347468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:91347468G>C	ENST00000355112.3	+	19	3748	c.3630G>C	c.(3628-3630)caG>caC	p.Q1210H	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1210					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGTGTCTCAGAGGGAAGAGA	0.358000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				21	59					0	0	0.008871	0	0
NLRC4	58484	broad.mit.edu	37	2	32474907	32474907	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32474907C>G	ENST00000404025.2	-	5	2514	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	NLRC4_ENST00000402280.1_Missense_Mutation_p.D676H|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.D676H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	676					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TATCTGATATCTTGCTTATTC	0.478000													14	120					0	0	0.001855	0	0
PTGER2	5732	broad.mit.edu	37	14	52781333	52781333	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:52781333G>A	ENST00000245457.5	+	1	221	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	23						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TCCCCCAGGCGAAAGCCCAGC	0.667000													5	14					0	0	0.001168	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810453	1810453	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:1810453G>T	ENST00000250894.4	+	12	1531	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	MAPK8IP3_ENST00000356010.5_Silent_p.L452L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	458					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGAGGTGCTGAGGGGCGAGT	0.532000													14	61					2.31682e-05	2.5049e-05	0.003163	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766831	27766831	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:27766831G>A	ENST00000451261.2	+	5	2218	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TCCAGATGAAGAATCGGATGA	0.527000													3	5					0	0	0.004672	0	0
MRPS18B	28973	broad.mit.edu	37	6	30587369	30587369	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:30587369G>A	ENST00000259873.4	+	2	335	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Missense_Mutation_p.E60K	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	60					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GAAATATCTGGAATCAGAAGG	0.483000													10	41					0	0	0.006214	0	0
MID1	4281	broad.mit.edu	37	X	10535264	10535264	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:10535264G>T	ENST00000317552.4	-	2	724	c.324C>A	c.(322-324)gcC>gcA	p.A108A	MID1_ENST00000380780.1_Silent_p.A108A|MID1_ENST00000380779.1_Silent_p.A108A|MID1_ENST00000380787.1_Silent_p.A108A|MID1_ENST00000380782.2_Silent_p.A108A|MID1_ENST00000453318.2_Silent_p.A108A|MID1_ENST00000380785.1_Silent_p.A108A	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	108					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATGGTGTTGGCGTCAAAGG	0.577000													17	84					6.94344e-10	7.66552e-10	0.006122	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961499	51961499	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:51961499G>A	ENST00000321424.3	-	1	209	c.143C>T	c.(142-144)tCc>tTc	p.S48F	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S48F|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S48F	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	48	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTAGGAGAAGGAGCAGGGCAC	0.587000													4	98					0	0	0.009096	0	0
PSD4	23550	broad.mit.edu	37	2	113953809	113953809	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:113953809C>G	ENST00000441564.3	+	12	2396	c.2227C>G	c.(2227-2229)Cag>Gag	p.Q743E	PSD4_ENST00000245796.6_Missense_Mutation_p.Q771E			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGCTGGCTCAGGATCCCAC	0.562000													19	19					0	0	0.007413	0	0
ZNF761	388561	broad.mit.edu	37	19	53945271	53945271	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53945271G>A	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGGCCTCCGTGAACGGTAGGA	0.587000													3	5					0	0	0.009096	0	0
ZNF394	84124	broad.mit.edu	37	7	99097431	99097431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:99097431C>T	ENST00000337673.6	-	1	489	c.286G>A	c.(286-288)Gag>Aag	p.E96K	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E96K|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	96	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGAGCAGCTCGGGTCTCAGC	0.632000													55	41					0	0	0.014410	0	0
NCEH1	57552	broad.mit.edu	37	3	172353774	172353774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:172353774C>T	ENST00000475381.1	-	4	774	c.541G>A	c.(541-543)Gat>Aat	p.D181N	NCEH1_ENST00000543711.1_Missense_Mutation_p.D48N|NCEH1_ENST00000273512.3_Missense_Mutation_p.D213N|NCEH1_ENST00000538775.1_Missense_Mutation_p.D221N			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	181					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CTGCCTGGATCAACCATATAC	0.463000													71	81					0	0	0.014410	0	0
GNRHR	2798	broad.mit.edu	37	4	68606261	68606261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:68606261G>C	ENST00000226413.4	-	3	948	c.924C>G	c.(922-924)ttC>ttG	p.F308L	GNRHR_ENST00000420975.2_3'UTR|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	308					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CAAAGAGAAAGAAGAAGTGAT	0.373000													66	60					0	0	0.014410	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617150	28617150	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:28617150C>G	ENST00000395609.1	-	10	1638	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	SULT1A1_ENST00000350842.4_Missense_Mutation_p.E216Q|SULT1A1_ENST00000569554.1_Missense_Mutation_p.E294Q|SULT1A1_ENST00000395607.1_Missense_Mutation_p.E294Q|SULT1A1_ENST00000314752.7_Missense_Mutation_p.E294Q			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	294					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TCTCACAGCTCAGAGCGGAAG	0.587000													3	34					0	0	0.004672	0	0
INPP5K	51763	broad.mit.edu	37	17	1399357	1399357	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:1399357G>A	ENST00000406424.4	-	13	1919	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	INPP5K_ENST00000320345.6_Silent_p.F353F|INPP5K_ENST00000542125.1_Silent_p.F333F|INPP5K_ENST00000421807.2_Silent_p.F429F|INPP5K_ENST00000397335.3_Silent_p.F337F	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	429	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TGCTTACCTGGAAGGGTCTGC	0.557000													75	26					0	0	0.014410	0	0
ABCC1	4363	broad.mit.edu	37	16	16215848	16215848	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:16215848C>T	ENST00000399408.2	+	25	3612	c.3437C>T	c.(3436-3438)tCc>tTc	p.S1146F	ABCC1_ENST00000351154.5_Missense_Mutation_p.S1077F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1136F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1080F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1136F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S1021F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1136	ABC transmembrane type-1 2.		V -> I (in dbSNP:rs28706727).		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)	TACGTGGCTTCCTCCCGGCAG	0.607000													10	23					0	0	0.008291	0	0
CARD6	84674	broad.mit.edu	37	5	40852938	40852938	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:40852938G>C	ENST00000254691.5	+	3	1703	c.1504G>C	c.(1504-1506)Gat>Cat	p.D502H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	502					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCAAATCTCTGATGGCCTGGT	0.443000													4	90					0	0	0.009096	0	0
GSTM5	2949	broad.mit.edu	37	1	110257596	110257596	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:110257596G>A	ENST00000369813.1	+	4	1170	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	GSTM5_ENST00000256593.3_Missense_Mutation_p.E130K|GSTM5_ENST00000369812.5_Missense_Mutation_p.E149K|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	130					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATACTTGGAGGAACTCCCTGA	0.512000													21	61					0	0	0.014323	0	0
RAF1	5894	broad.mit.edu	37	3	12641741	12641741	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:12641741C>G	ENST00000251849.4	-	9	1339	c.900G>C	c.(898-900)ctG>ctC	p.L300L	RAF1_ENST00000534997.1_Silent_p.L85L|RAF1_ENST00000442415.2_Silent_p.L320L|RAF1_ENST00000542177.1_Silent_p.L219L	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	300					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTGTTGGGCTCAGATTGTTGG	0.502000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				15	33					0	0	0.003163	0	0
TTC13	79573	broad.mit.edu	37	1	231079566	231079566	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:231079566C>G	ENST00000366661.4	-	6	665	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	220							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCTCGCTGCTCAAATACCTCT	0.378000													25	98					0	0	0.004656	0	0
ANO8	57719	broad.mit.edu	37	19	17439180	17439180	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:17439180C>T	ENST00000159087.4	-	13	2175	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	673	Glu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCCGGGGGCTCCCGTTCAGGG	0.741000													4	3					0	0	0.000602	0	0
DNAJC9	23234	broad.mit.edu	37	10	75005766	75005766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:75005766G>A	ENST00000372950.4	-	3	2162	c.490C>T	c.(490-492)Cag>Tag	p.Q164*		NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	164					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					ATAGCTTGCTGAATGATATTC	0.443000													21	27					0	0	0.003330	0	0
NLRC4	58484	broad.mit.edu	37	2	32476165	32476165	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32476165C>G	ENST00000404025.2	-	5	1256	c.768G>C	c.(766-768)caG>caC	p.Q256H	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q256H|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q256H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	256	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGGGCAGTTCTGGGGCTTGA	0.507000													16	98					0	0	0.006122	0	0
MYSM1	114803	broad.mit.edu	37	1	59165715	59165715	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:59165715C>T	ENST00000472487.1	-	1	49	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	4					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCCGCCTCTTCAGCCGCCATG	0.687000													14	43					0	0	0.004007	0	0
UACA	55075	broad.mit.edu	37	15	70961667	70961667	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:70961667G>A	ENST00000322954.6	-	16	1541	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	UACA_ENST00000379983.2_Silent_p.F439F|UACA_ENST00000560441.1_Silent_p.F437F|UACA_ENST00000539319.1_Silent_p.F343F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	452						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTGACTCACAGAAAGTTCGCA	0.398000													45	53					0	0	0.011902	0	0
UBAP1	51271	broad.mit.edu	37	9	34241261	34241261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:34241261G>A	ENST00000536252.1	+	5	636	c.238G>A	c.(238-240)Gag>Aag	p.E80K	UBAP1_ENST00000543944.1_Missense_Mutation_p.E116K|UBAP1_ENST00000540348.1_Missense_Mutation_p.E80K|UBAP1_ENST00000297661.4_Missense_Mutation_p.E80K|UBAP1_ENST00000545103.1_Missense_Mutation_p.E144K|UBAP1_ENST00000359544.2_Missense_Mutation_p.E80K|UBAP1_ENST00000379186.4_Missense_Mutation_p.E80K	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	80						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GCGGGAAGCAGAGTGCAAAAT	0.443000													25	93					0	0	0.002780	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207588	4207588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:4207588C>G	ENST00000600132.1	+	9	904	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q300E|ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q210E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	210										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CGCGAACGATCAGGACCTGCA	0.572000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	0.010729	0	0
DDX54	79039	broad.mit.edu	37	12	113623133	113623133	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:113623133C>T	ENST00000314045.7	-	1	151	c.124G>A	c.(124-126)Gag>Aag	p.E42K	DDX54_ENST00000306014.5_Missense_Mutation_p.E42K	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	42					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGCCGTCCTCCGAGTCGCTG	0.721000													9	0					0	0	0.006214	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559004	140559004	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:140559004G>A	ENST00000239444.2	+	1	1634	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		463	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTCCGCGAGAACAACAGCC	0.627000													65	96					0	0	0.014410	0	0
TMCO6	55374	broad.mit.edu	37	5	140023482	140023482	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:140023482C>T	ENST00000394671.3	+	9	1137	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	TMCO6_ENST00000252100.6_Silent_p.L352L|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.L106L	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	346					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTATCCTTCTGCAGTTCTT	0.532000													23	18					0	0	0.012319	0	0
TRPC4	7223	broad.mit.edu	37	13	38211283	38211283	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:38211283C>T	ENST00000379705.3	-	11	3548	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	TRPC4_ENST00000379679.1_Silent_p.L724L|TRPC4_ENST00000338947.5_Silent_p.L724L|TRPC4_ENST00000379673.2_Silent_p.L748L|TRPC4_ENST00000358477.2_Silent_p.L813L|TRPC4_ENST00000379681.3_Silent_p.L902L|TRPC4_ENST00000355779.2_Silent_p.L756L|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Silent_p.L756L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	897	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CGGGAATGCTCAGGTCACCCC	0.468000													20	26					0	0	0.012319	0	0
TRRAP	8295	broad.mit.edu	37	7	98547453	98547453	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:98547453G>A	ENST00000359863.4	+	36	5312	c.5103G>A	c.(5101-5103)ctG>ctA	p.L1701L	TRRAP_ENST00000446306.3_Silent_p.L1682L|TRRAP_ENST00000355540.3_Silent_p.L1683L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1701					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACTGCCTGCTGAACTACTGCA	0.607000													13	26					0	0	0.013537	0	0
GIPC2	54810	broad.mit.edu	37	1	78546505	78546505	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:78546505C>T	ENST00000370759.3	+	2	580	c.387C>T	c.(385-387)ctC>ctT	p.L129L	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	129	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CACTTGGTCTCACCATTACAG	0.333000													25	31					0	0	0.004656	0	0
CLDN4	1364	broad.mit.edu	37	7	73245798	73245798	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:73245798C>G	ENST00000435050.1	+	2	2947	c.267C>G	c.(265-267)atC>atG	p.I89M	CLDN4_ENST00000431918.1_Missense_Mutation_p.I89M|CLDN4_ENST00000340958.2_Missense_Mutation_p.I89M			O14493	CLD4_HUMAN	claudin 4	89					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TCAGCATCATCGTGGCTGCTC	0.652000													23	33					0	0	0.012319	0	0
ABCG4	64137	broad.mit.edu	37	11	119031674	119031674	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:119031674G>A	ENST00000307417.3	+	15	2163	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	ABCG4_ENST00000449422.2_Missense_Mutation_p.R600Q|ABCG4_ENST00000531739.1_Missense_Mutation_p.R600Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCCGTTCCGGGAGCCACAG	0.577000													7	21					0	0	0.001984	0	0
AGAP1	116987	broad.mit.edu	37	2	236949470	236949470	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:236949470G>C	ENST00000304032.8	+	15	2456	c.1876G>C	c.(1876-1878)Gac>Cac	p.D626H	AGAP1_ENST00000409538.1_Missense_Mutation_p.D838H|AGAP1_ENST00000428334.2_Missense_Mutation_p.D465H|AGAP1_ENST00000336665.5_Missense_Mutation_p.D573H	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCACTGTGTGGACTGCGAGAC	0.632000													18	9					0	0	0.004990	0	0
PSMC4	5704	broad.mit.edu	37	19	40478350	40478350	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:40478350G>C	ENST00000157812.2	+	3	408	c.210G>C	c.(208-210)aaG>aaC	p.K70N	PSMC4_ENST00000455878.2_Intron	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCTGAAAAAGGAATTTCTCC	0.522000													11	30					0	0	0.008291	0	0
MKI67	4288	broad.mit.edu	37	10	129899866	129899866	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:129899866C>T	ENST00000368654.3	-	14	9736	c.9361G>A	c.(9361-9363)Gaa>Aaa	p.E3121K	MKI67_ENST00000368653.3_Missense_Mutation_p.E2761K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3121					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCTTCTTTTCATTTCTGTTT	0.438000													18	63					0	0	0.006122	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43693955	43693955	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:43693955G>T	ENST00000564079.1	+	15	1878	c.1638G>T	c.(1636-1638)caG>caT	p.Q546H	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.Q547H|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	547					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGCTTCATCAGATCAATTCTA	0.403000													4	62					0.00909568	0.00964893	0.009096	1	0
MAN2B2	23324	broad.mit.edu	37	4	6612673	6612673	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:6612673G>C	ENST00000285599.3	+	14	2362	c.2326G>C	c.(2326-2328)Gag>Cag	p.E776Q	MAN2B2_ENST00000504248.1_Missense_Mutation_p.E725Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	776					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.E776K(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTTGCTGTCGGAGCGGGCACA	0.607000													13	69					0	0	0.003163	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417911	116417911	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:116417911C>G	ENST00000277895.5	-	1	146	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	17					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTGCTTTTCTCAGAGCTGCAC	0.527000													8	76					0	0	0.003080	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870234	57870234	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:57870234C>T	ENST00000393797.2	-	11	1434	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	ARHGAP9_ENST00000356411.2_Silent_p.K343K|ARHGAP9_ENST00000550288.1_Silent_p.K422K|ARHGAP9_ENST00000393791.3_Silent_p.K343K|ARHGAP9_ENST00000430041.2_Silent_p.K159K|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Silent_p.K343K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	343	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCCCCAGTTCTTCCTGCGGG	0.602000													6	40					0	0	0.004482	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27806029	27806029	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:27806029C>T	ENST00000330180.2	-	1	88	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	30					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.R30P(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGTGCACTCGGCCCACTGG	0.632000													9	47					0	0	0.006214	0	0
UBE4A	9354	broad.mit.edu	37	11	118257251	118257251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:118257251G>C	ENST00000252108.3	+	16	2642	c.2511G>C	c.(2509-2511)caG>caC	p.Q837H	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q309H|UBE4A_ENST00000431736.2_Missense_Mutation_p.Q844H	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	837					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTGGCCTACAGATGTTTGGAC	0.463000													26	76					0	0	0.009535	0	0
MIR527	574497	broad.mit.edu	37	19	54257275	54257275	+	RNA	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54257275C>G	ENST00000385244.1	+	0	4					NR_030219.1																						AAGAAGATCTCAAGCTGTGAC	0.423000													75	110					0	0	0.014410	0	0
ARMC7	79637	broad.mit.edu	37	17	73106677	73106677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:73106677G>A	ENST00000245543.1	+	2	513	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ARMC7_ENST00000581078.1_Intron|ARMC7_ENST00000582136.1_Missense_Mutation_p.E71K|ARMC7_ENST00000584947.1_Missense_Mutation_p.E71K	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	71							binding	p.E71K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGAGGAGAATGAGACCCTGGT	0.542000													49	23					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3828043	3828043	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:3828043C>T	ENST00000262367.5	-	10	2891	c.2082G>A	c.(2080-2082)gtG>gtA	p.V694V	CREBBP_ENST00000382070.3_Silent_p.V656V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	694					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)		CCTGTGGAATCACAGGGGGCT	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						66	80					0	0	0.014410	0	0
UBE2C	11065	broad.mit.edu	37	20	44442012	44442012	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:44442012G>A	ENST00000405520.1	+	0	758				UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000372568.4_Intron|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000356455.4_Intron|UBE2C_ENST00000243893.6_Intron			O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGTGGGAGAAGATGCACCGTC	0.567000													24	109					0	0	0.002780	0	0
RBBP6	5930	broad.mit.edu	37	16	24564833	24564833	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:24564833G>C	ENST00000319715.4	+	4	735		c.e4-1		RBBP6_ENST00000348022.2_Splice_Site|RBBP6_ENST00000381039.3_Splice_Site	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTGTGAACAGATTGATGACT	0.303000													15	52					0	0	0.003163	0	0
GPR153	387509	broad.mit.edu	37	1	6314959	6314959	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:6314959C>T	ENST00000377893.2	-	2	266	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	3						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CGCCGCTCATCACTCATGGTG	0.662000													25	30					0	0	0.004656	0	0
CCDC155	147872	broad.mit.edu	37	19	49901326	49901326	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:49901326G>C	ENST00000447857.3	+	7	760	c.555G>C	c.(553-555)cgG>cgC	p.R185R		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	185						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AATTGCAGCGGAGCATGGAGA	0.612000													3	11					0	0	0.009096	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330386	5330386	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:5330386G>A	ENST00000396872.3	+	3	354	c.193G>A	c.(193-195)Gac>Aac	p.D65N	SLC29A4_ENST00000406453.3_Missense_Mutation_p.D65N|SLC29A4_ENST00000297195.4_Missense_Mutation_p.D65N			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGTGCCCGATGACCGTTATCA	0.587000													11	25					0	0	0.013537	0	0
EPHA2	1969	broad.mit.edu	37	1	16462252	16462252	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16462252C>T	ENST00000358432.5	-	6	1480	c.1326G>A	c.(1324-1326)gtG>gtA	p.V442V		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	442	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCTCCAGCCTCACCTTGGGGG	0.647000													8	35					0	0	0.006214	0	0
RAPSN	5913	broad.mit.edu	37	11	47464360	47464360	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:47464360C>T	ENST00000298854.2	-	3	751	c.538G>A	c.(538-540)Gag>Aag	p.E180K	RAPSN_ENST00000529341.1_Missense_Mutation_p.E180K|RAPSN_ENST00000352508.3_Missense_Mutation_p.E180K|RAPSN_ENST00000524487.1_Intron	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	180					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGGGCTTTCTCGTAGTCCTGC	0.572000													14	25					0	0	0.001855	0	0
PREX2	80243	broad.mit.edu	37	8	68950492	68950492	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:68950492C>T	ENST00000288368.4	+	7	1081	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	268	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.F268F(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTTCTTTTCGATAATCTTT	0.413000													22	19					0	0	0.012319	0	0
SPEN	23013	broad.mit.edu	37	1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	rs139125517		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542000													15	49					0	0	0.004007	0	0
PNLDC1	154197	broad.mit.edu	37	6	160230156	160230156	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:160230156C>A	ENST00000610273.1	+	9	887	c.716C>A	c.(715-717)tCt>tAt	p.S239Y	PNLDC1_ENST00000392167.3_Missense_Mutation_p.S250Y	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGGGGTTTTTCTGTCTTTTTC	0.403000													21	23					1.10513e-12	1.23307e-12	0.014323	1	0
KMT2D	8085	broad.mit.edu	37	12	49425638	49425638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:49425638G>A	ENST00000301067.7	-	39	12849	c.12850C>T	c.(12850-12852)Cag>Tag	p.Q4284*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q4284*(1)|p.Q4014*(1)									GGTGGGCCCTGAGGTCGAGGC	0.677000													14	14					0	0	0.002450	0	0
TDRKH	11022	broad.mit.edu	37	1	151749052	151749052	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:151749052G>A	ENST00000368822.1	-	7	1540	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	TDRKH_ENST00000368825.3_Missense_Mutation_p.H258Y|TDRKH_ENST00000440583.2_Missense_Mutation_p.H79Y|TDRKH_ENST00000458431.2_Missense_Mutation_p.H303Y|TDRKH_ENST00000368823.1_Missense_Mutation_p.H299Y|TDRKH_ENST00000368824.3_Missense_Mutation_p.H303Y|TDRKH_ENST00000368827.6_Missense_Mutation_p.H303Y			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	303							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCATCAGCATGAAAACTGAAG	0.498000													32	38					0	0	0.012213	0	0
TH	7054	broad.mit.edu	37	11	2186583	2186583	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:2186583C>T	ENST00000381178.1	-	13	1324	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	TH_ENST00000381175.1_Missense_Mutation_p.E432K|TH_ENST00000333684.5_Missense_Mutation_p.E315K|TH_ENST00000352909.3_Missense_Mutation_p.E405K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	436					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCAGGCTCCTCAGACAGGCAG	0.632000													21	56					0	0	0.014323	0	0
ABCA2	20	broad.mit.edu	37	9	139914854	139914854	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:139914854G>C	ENST00000265662.5	-	10	1506	c.1359C>G	c.(1357-1359)ctC>ctG	p.L453L	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.L453L|ABCA2_ENST00000371605.3_Silent_p.L452L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	452					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCTGGTCATGAGGTGCACGA	0.642000													8	36					0	0	0.003080	0	0
WNT10A	80326	broad.mit.edu	37	2	219745726	219745726	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:219745726C>T	ENST00000258411.3	+	1	642	c.9C>T	c.(7-9)agC>agT	p.S3S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	3					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATGGGCAGCGCCCACCCTC	0.746000													5	2					0	0	0.000602	0	0
SPG7	6687	broad.mit.edu	37	16	89590493	89590493	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:89590493G>A	ENST00000268704.2	+	4	471	c.456G>A	c.(454-456)atG>atA	p.M152I	SPG7_ENST00000341316.2_Missense_Mutation_p.M152I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	152					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGGTTGTCATGAGCCTCCTGA	0.622000													19	29					0	0	0.007413	0	0
UCKL1	54963	broad.mit.edu	37	20	62587691	62587691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:62587691G>A	ENST00000358711.3	-	1	78	c.35C>T	c.(34-36)cCt>cTt	p.P12L	UCKL1_ENST00000369892.3_Missense_Mutation_p.P12L|UCKL1_ENST00000354216.6_Missense_Mutation_p.P12L			Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	12					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGTGGGCGAAGGATCAGCGTC	0.756000													5	12					0	0	0.000602	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47588903	47588903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:47588903C>A	ENST00000371917.4	+	11	1466	c.1466C>A	c.(1465-1467)tCa>tAa	p.S489*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	489					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTAGAAACATCAACAAGTTCT	0.418000													4	57					0.00116845	0.00124674	0.001168	1	0
SCN5A	6331	broad.mit.edu	37	3	38649676	38649676	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:38649676C>T	ENST00000413689.1	-	8	1157	c.964G>A	c.(964-966)Gat>Aat	p.D322N	SCN5A_ENST00000414099.2_Missense_Mutation_p.D322N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D322N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D322N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D322N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D322N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D322N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D322N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D322N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D322N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	322					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTAACACATCAGAGGTGCCG	0.547000													47	57					0	0	0.014410	0	0
DSG1	1828	broad.mit.edu	37	18	28919963	28919963	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:28919963C>G	ENST00000257192.4	+	11	1874	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	554					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTGGACTCCTCATCATGGGAT	0.418000													8	62					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9076314	9076314	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:9076314G>C	ENST00000397910.4	-	3	11335	c.11132C>G	c.(11131-11133)tCt>tGt	p.S3711C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3712	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3711Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGATCTGTAGAAACCATTGA	0.458000													8	103					0	0	0.003080	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370559	26370559	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:26370559C>G	ENST00000356386.2	+	5	631	c.443C>G	c.(442-444)tCt>tGt	p.S148C	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.S148C|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S106C|BTN3A2_ENST00000396948.1_Missense_Mutation_p.S148C|BTN3A2_ENST00000527422.1_Missense_Mutation_p.S148C|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S125C	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	148						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCACTGGGTTCTAATCTTCAC	0.488000													11	52					0	0	0.010729	0	0
SCN3A	6328	broad.mit.edu	37	2	165953972	165953972	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:165953972G>A	ENST00000360093.3	-	23	4520	c.4029C>T	c.(4027-4029)ctC>ctT	p.L1343L	SCN3A_ENST00000409101.3_Silent_p.L1294L|SCN3A_ENST00000283254.7_Silent_p.L1343L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1343						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACCAGAAGATGAGACAGACCA	0.433000													15	47					0	0	0.003163	0	0
HHIP	64399	broad.mit.edu	37	4	145580934	145580934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:145580934G>C	ENST00000296575.3	+	4	1430	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E259Q|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	259						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCCTGAAGGAGAAATTTTCAA	0.418000													7	115					0	0	0.003080	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483714	43483714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:43483714C>G	ENST00000300213.4	+	8	943	c.701C>G	c.(700-702)tCa>tGa	p.S234*	CCNDBP1_ENST00000356633.5_Nonsense_Mutation_p.S73*|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	234	Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TTGTATTGGTCAGAGGACGAT	0.478000													11	20					0	0	0.008291	0	0
STAG1	10274	broad.mit.edu	37	3	136170958	136170958	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:136170958C>T	ENST00000383202.2	-	14	1601	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	STAG1_ENST00000236698.5_Missense_Mutation_p.E449K|STAG1_ENST00000536929.1_Missense_Mutation_p.E33K|STAG1_ENST00000434713.2_Missense_Mutation_p.E223K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	449					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCTAATGCTTCTTCTGCTTGT	0.393000													25	65					0	0	0.006320	0	0
NRD1	4898	broad.mit.edu	37	1	52279712	52279712	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:52279712C>T	ENST00000354831.7	-	16	2062	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	NRD1_ENST00000539524.1_Missense_Mutation_p.E493K|NRD1_ENST00000544028.1_Missense_Mutation_p.E425K|NRD1_ENST00000352171.7_Missense_Mutation_p.E557K|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	556					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGTACCTGTTCTTGGTAATGA	0.338000													16	23					0	0	0.006122	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52761599	52761599	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:52761599C>T	ENST00000287727.3	+	12	3455	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R1095W|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R1036W|ZFYVE9_ENST00000469134.1_3'UTR			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1095					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGTCAGATTTCGGAAGCCATT	0.368000													18	45					0	0	0.008871	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069402	241069402	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:241069402G>C	ENST00000307266.3	-	4	306	c.307C>G	c.(307-309)Ccc>Gcc	p.P103A		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGCAGTGCGGGAACCATGGAG	0.602000													12	14					0	0	0.010729	0	0
ARNT2	9915	broad.mit.edu	37	15	80767519	80767519	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:80767519G>A	ENST00000533983.1	+	6	883	c.544G>A	c.(544-546)Gag>Aag	p.E182K	ARNT2_ENST00000527771.1_Missense_Mutation_p.E182K|ARNT2_ENST00000303329.4_Missense_Mutation_p.E193K|ARNT2_ENST00000531595.3_3'UTR			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	193	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGATGACGTGGAGAAGCTGAG	0.498000													18	57					0	0	0.004990	0	0
SRRM2	23524	broad.mit.edu	37	16	2819244	2819244	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:2819244C>T	ENST00000301740.8	+	12	8529	c.7980C>T	c.(7978-7980)ccC>ccT	p.P2660P	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2660	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGCCTTGCCCAAACCTGCAA	0.597000													32	124					0	0	0.003755	0	0
CD163L1	283316	broad.mit.edu	37	12	7525940	7525940	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:7525940C>G	ENST00000313599.3	-	14	3763	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1246Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E1236Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1236	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGGTCTCTTCTGCTGGGCTG	0.463000													21	12					0	0	0.008871	0	0
CASK	8573	broad.mit.edu	37	X	41437656	41437656	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:41437656C>A	ENST00000318588.9	-	15	1485	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	CASK_ENST00000378154.1_Missense_Mutation_p.M480I|CASK_ENST00000442742.2_Missense_Mutation_p.M480I|CASK_ENST00000378163.1_Missense_Mutation_p.M480I|CASK_ENST00000378166.4_Missense_Mutation_p.M480I|CASK_ENST00000378158.1_Missense_Mutation_p.M480I|CASK_ENST00000421587.2_Missense_Mutation_p.M474I|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000361962.4_Missense_Mutation_p.M480I			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	480					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TCTCCATATCCATGTCTCCGT	0.438000													14	45					1.52009e-12	1.69477e-12	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179414365	179414365	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179414365G>A	ENST00000589042.1	-	338	92308	c.92084C>T	c.(92083-92085)tCt>tTt	p.S30695F	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21822F|TTN_ENST00000591111.1_Missense_Mutation_p.S29054F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21755F|TTN_ENST00000460472.2_Missense_Mutation_p.S21630F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28127F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29054	Ig-like 138.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAACTGCAGAAACACGGAA	0.408000													19	61					0	0	0.008871	0	0
TRIP13	9319	broad.mit.edu	37	5	908553	908553	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:908553G>A	ENST00000166345.3	+	9	1199	c.843G>A	c.(841-843)ttG>ttA	p.L281L		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	281					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATGCTGTCTTGACCCAAATTG	0.517000													18	54					0	0	0.008871	0	0
OR4S2	219431	broad.mit.edu	37	11	55419240	55419240	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:55419240G>A	ENST00000312422.2	+	1	861	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTATACACTGAGAAATGCAG	0.373000													48	98					0	0	0.014410	0	0
RAP2A	5911	broad.mit.edu	37	13	98086841	98086841	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:98086841C>A	ENST00000245304.4	+	1	366	c.117C>A	c.(115-117)ttC>ttA	p.F39L		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	39					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TCGAGGACTTCTACCGCAAGG	0.627000													45	76					1.15183e-24	1.30304e-24	0.009718	1	0
RB1	5925	broad.mit.edu	37	13	48941633	48941633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:48941633G>T	ENST00000267163.4	+	10	1081	c.943G>T	c.(943-945)Gaa>Taa	p.E315*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	315					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCAAGGTTGAAAATCTTTC	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	18					1.3612e-06	1.48375e-06	0.003163	1	0
XPO5	57510	broad.mit.edu	37	6	43521206	43521206	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:43521206G>C	ENST00000265351.7	-	14	1686	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	492					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGACGGAACAGAGGCTTCCTT	0.418000													3	4					0	0	0.004672	0	0
GPR112	139378	broad.mit.edu	37	X	135430470	135430470	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:135430470G>A	ENST00000394143.1	+	6	4896	c.4605G>A	c.(4603-4605)gtG>gtA	p.V1535V	GPR112_ENST00000287534.4_Silent_p.V1472V|GPR112_ENST00000370652.1_Silent_p.V1535V|GPR112_ENST00000394141.1_Silent_p.V1330V|GPR112_ENST00000412101.1_Silent_p.V1330V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1535					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCCAATAGTGATAACTAAAT	0.423000													18	106					0	0	0.004990	0	0
NCEH1	57552	broad.mit.edu	37	3	172428676	172428676	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:172428676C>A	ENST00000475381.1	-	1	332	c.99G>T	c.(97-99)ctG>ctT	p.L33L	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Silent_p.L65L|NCEH1_ENST00000538775.1_Silent_p.L65L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	33					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CCAGCAGCATCAGCTTCCAGG	0.607000											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	42					8.04919e-23	9.0778e-23	0.014410	1	0
PCDH12	51294	broad.mit.edu	37	5	141335011	141335011	+	Silent	SNP	C	C	T	rs145015864		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:141335011C>T	ENST00000231484.3	-	1	3616	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	802					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCATCATCGCCTCCTTGT	0.617000													10	20					0	0	0.006214	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82378749	82378749	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:82378749G>A	ENST00000436139.2	-	3	330	c.204C>T	c.(202-204)ctC>ctT	p.L68L	RASGEF1B_ENST00000335927.7_Intron|RASGEF1B_ENST00000264400.2_Silent_p.L68L|RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000509081.1_Silent_p.L68L			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	68	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACCGAGAACTGAGTAGGAAGG	0.368000													14	34					0	0	0.001855	0	0
RPS2	6187	broad.mit.edu	37	16	2014461	2014461	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:2014461C>T	ENST00000529806.1	-	1	352	c.166G>A	c.(166-168)Gag>Aag	p.E56K	RPS2_ENST00000530225.1_Missense_Mutation_p.E56K|RPS2_ENST00000526522.1_Missense_Mutation_p.E56K|RPS2_ENST00000343262.4_Missense_Mutation_p.E56K			P15880	RS2_HUMAN	ribosomal protein S2	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCCTTATCCTCGGCCTTGCCT	0.726000													12	11					0	0	0.002450	0	0
SHBG	6462	broad.mit.edu	37	17	7536092	7536092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:7536092C>A	ENST00000380450.4	+	7	906	c.875C>A	c.(874-876)tCg>tAg	p.S292*	SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Nonsense_Mutation_p.S234*|SHBG_ENST00000572262.1_Nonsense_Mutation_p.S180*|SHBG_ENST00000575903.1_Nonsense_Mutation_p.S274*|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	292	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	TCTTCTGGGTCGGGGCCAGGG	0.597000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	19					2.24059e-37	2.54652e-37	0.014410	1	0
CEP152	22995	broad.mit.edu	37	15	49031133	49031133	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:49031133G>A	ENST00000380950.2	-	27	4633	c.4446C>T	c.(4444-4446)ctC>ctT	p.L1482L	CEP152_ENST00000399334.3_Silent_p.L1426L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1426					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTATCACTGAGTAGGTCTT	0.453000													18	57					0	0	0.007413	0	0
BUD13	84811	broad.mit.edu	37	11	116633686	116633686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:116633686G>A	ENST00000260210.4	-	4	642	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	BUD13_ENST00000375445.3_Nonsense_Mutation_p.Q207*	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	207	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GAATTATGCTGAGGCCTCCTT	0.552000													18	61					0	0	0.007413	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640066	99640066	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:99640066G>C	ENST00000547776.2	-	13	2332	c.2333C>G	c.(2332-2334)tCg>tGg	p.S778W	ANKS1B_ENST00000547010.1_Missense_Mutation_p.S358W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S778W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	778						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCCATTCCGATGTGAAGGA	0.413000													6	19					0	0	0.001168	0	0
ZSCAN12P1	221584	broad.mit.edu	37	6	28060414	28060414	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:28060414G>A	ENST00000529104.1	+	0	629					NR_024063.2																						GCTGTGAGCTGATTCTGGGAA	0.517000													4	10					0	0	0.009096	0	0
SCML2	10389	broad.mit.edu	37	X	18343029	18343029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:18343029G>A	ENST00000251900.4	-	4	319	c.160C>T	c.(160-162)Cag>Tag	p.Q54*		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	54					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGCATACCTGACGGAAGCAC	0.403000													11	77					0	0	0.004007	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318961	67318961	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:67318961C>T	ENST00000360461.5	+	12	4573	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R680W|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R680W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R599W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	680					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCTTCGATCGGAATCTGGG	0.647000													12	89					0	0	0.013537	0	0
HGF	3082	broad.mit.edu	37	7	81374404	81374404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:81374404G>A	ENST00000222390.5	-	6	884	c.658C>T	c.(658-660)Cga>Tga	p.R220*	HGF_ENST00000444829.2_Nonsense_Mutation_p.R220*|HGF_ENST00000453411.1_Nonsense_Mutation_p.R215*|HGF_ENST00000457544.2_Nonsense_Mutation_p.R215*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	220	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGAGACCTCGATAACTCTCC	0.393000													10	29					0	0	0.006214	0	0
CMYA5	202333	broad.mit.edu	37	5	79026837	79026837	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:79026837C>G	ENST00000446378.2	+	2	2280	c.2249C>G	c.(2248-2250)tCt>tGt	p.S750C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	750						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCCCTGCTTCTGAGCCCTCT	0.493000													18	27					0	0	0.006122	0	0
SLC24A5	283652	broad.mit.edu	37	15	48434439	48434439	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:48434439G>A	ENST00000341459.3	+	9	1467	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K	SLC24A5_ENST00000449382.2_Missense_Mutation_p.R405K|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	465					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AAACTAGACAGAAAGTTGGGA	0.343000													28	40					0	0	0.004656	0	0
SLC3A1	6519	broad.mit.edu	37	2	44531404	44531404	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:44531404C>G	ENST00000260649.6	+	7	1335	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	SLC3A1_ENST00000409387.1_Missense_Mutation_p.S420C|SLC3A1_ENST00000409294.1_Missense_Mutation_p.S40C|SLC3A1_ENST00000409229.3_Missense_Mutation_p.S420C|SLC3A1_ENST00000409741.1_Missense_Mutation_p.S420C|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S142C|SLC3A1_ENST00000409740.3_Missense_Mutation_p.S51C	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	420					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GACACTGTTTCTGGGAACAGC	0.443000													9	69					0	0	0.004482	0	0
OLFM3	118427	broad.mit.edu	37	1	102312417	102312417	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:102312417G>C	ENST00000338858.5	-	1	112	c.113C>G	c.(112-114)tCg>tGg	p.S38W	OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.S38W			Q96PB7	NOE3_HUMAN	olfactomedin 3	38						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATCCGGAGTCGACAGCCTCGT	0.478000													18	37					0	0	0.004990	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689670	30689670	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:30689670C>G	ENST00000215790.7	-	8	1184	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K347N|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.K252N|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.K214N	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	340						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						CCTGCATGATCTTGGGGCTGA	0.637000													10	55					0	0	0.008291	0	0
VAV3	10451	broad.mit.edu	37	1	108185292	108185292	+	Silent	SNP	G	G	A	rs142820345		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:108185292G>A	ENST00000370056.4	-	20	2137	c.1863C>T	c.(1861-1863)gcC>gcT	p.A621A	VAV3_ENST00000544443.1_Silent_p.A25A|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.A621A|VAV3_ENST00000415432.2_Silent_p.A61A	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	621	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A621A(1)|p.A61A(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGGTATCCCCGGCCTGGAGCT	0.507000													35	29					0	0	0.006999	0	0
AVPR1A	552	broad.mit.edu	37	12	63543729	63543729	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:63543729G>A	ENST00000299178.2	-	1	993	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	296					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGCCGTCACGATCACAAAAG	0.562000													28	58					0	0	0.006320	0	0
METTL13	51603	broad.mit.edu	37	1	171765686	171765686	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:171765686C>G	ENST00000361735.3	+	8	2156	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	METTL13_ENST00000367737.5_Silent_p.L474L|METTL13_ENST00000458517.1_Silent_p.L629L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L544L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	630							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGGCTGGGCTCAAGGCAGTGT	0.498000													20	98					0	0	0.010504	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853154	45853154	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:45853154G>A	ENST00000311275.7	-	19	3265	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	ZMYND8_ENST00000536340.1_Silent_p.I1031I|ZMYND8_ENST00000262975.4_Silent_p.I958I|ZMYND8_ENST00000355972.4_Silent_p.I1004I|ZMYND8_ENST00000396281.4_Silent_p.I1004I|ZMYND8_ENST00000352431.2_Silent_p.I978I|ZMYND8_ENST00000360911.3_Silent_p.I953I|ZMYND8_ENST00000540497.1_Silent_p.I952I|ZMYND8_ENST00000461685.1_Silent_p.I978I|ZMYND8_ENST00000372023.3_Silent_p.I926I|ZMYND8_ENST00000458360.2_Silent_p.I872I|ZMYND8_ENST00000446994.2_Silent_p.I895I|ZMYND8_ENST00000471951.2_Silent_p.I1024I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1004							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCACCTCGGCGATGAGCCGGT	0.612000													46	91					0	0	0.014410	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50197707	50197707	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:50197707C>G	ENST00000335999.6	-	3	322	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	37										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGCCGCACCTCCAGCTCCCGC	0.677000													29	88					0	0	0.009535	0	0
ADD1	118	broad.mit.edu	37	4	2896321	2896321	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:2896321C>G	ENST00000355842.3	+	7	1467	c.604C>G	c.(604-606)Cta>Gta	p.L202V	ADD1_ENST00000446856.1_Missense_Mutation_p.L202V|ADD1_ENST00000513328.2_Missense_Mutation_p.L202V|ADD1_ENST00000398123.2_Missense_Mutation_p.L202V|ADD1_ENST00000398125.1_Missense_Mutation_p.L202V|ADD1_ENST00000503455.2_Missense_Mutation_p.L202V|ADD1_ENST00000264758.7_Missense_Mutation_p.L202V|ADD1_ENST00000398129.1_Missense_Mutation_p.L202V			P35611	ADDA_HUMAN	adducin 1 (alpha)	202					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAGATCAATCTACAAGGAGA	0.368000													11	26					0	0	0.010729	0	0
TBCE	6905	broad.mit.edu	37	1	235611678	235611678	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:235611678C>G	ENST00000543662.1	+	17	1673	c.1567C>G	c.(1567-1569)Caa>Gaa	p.Q523E	TBCE_ENST00000366601.3_Missense_Mutation_p.Q472E|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.Q472E			Q15813	TBCE_HUMAN	tubulin folding cofactor E	472					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CATGACAATTCAAAAGGTGAA	0.408000													31	52					0	0	0.013726	0	0
CNTRL	11064	broad.mit.edu	37	9	123858779	123858779	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:123858779T>C	ENST00000373855.1	+	6	819	c.559T>C	c.(559-561)Tgg>Cgg	p.W187R	CNTRL_ENST00000373865.2_Missense_Mutation_p.W187R|CNTRL_ENST00000238341.5_Missense_Mutation_p.W187R			Q7Z7A1	CNTRL_HUMAN	centriolin	187					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TATTCCAGTATGGTTAGGGAA	0.333000													18	61					0	0	0.007413	0	0
EYA3	2140	broad.mit.edu	37	1	28320057	28320057	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:28320057G>C	ENST00000373871.3	-	14	1397	c.1157C>G	c.(1156-1158)tCa>tGa	p.S386*	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S340*|EYA3_ENST00000436342.2_Nonsense_Mutation_p.S260*|EYA3_ENST00000373863.3_Nonsense_Mutation_p.S340*|EYA3_ENST00000545175.1_Nonsense_Mutation_p.S333*|EYA3_ENST00000373864.1_Nonsense_Mutation_p.S229*	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	386					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACCATCTGTTGAGAAACTGTA	0.423000													10	37					0	0	0.008291	0	0
IL6	3569	broad.mit.edu	37	7	22769243	22769243	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:22769243G>A	ENST00000404625.1	+	5	894	c.435G>A	c.(433-435)atG>atA	p.M145I	IL6_ENST00000406575.1_Missense_Mutation_p.M145I|IL6_ENST00000420258.2_Missense_Mutation_p.M199I|IL6_ENST00000258743.5_Missense_Mutation_p.M145I|IL6_ENST00000407492.1_Missense_Mutation_p.M69I|IL6_ENST00000401630.3_Missense_Mutation_p.M122I|IL6_ENST00000401651.1_Missense_Mutation_p.M69I			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	145					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CTGTGCAGATGAGTACAAAAG	0.478000													6	31					0	0	0.001168	0	0
METTL9	51108	broad.mit.edu	37	16	21629339	21629339	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:21629339C>T	ENST00000358154.3	+	3	768	c.510C>T	c.(508-510)atC>atT	p.I170I	METTL9_ENST00000396014.4_Silent_p.I170I	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	170										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TTGAAGAAATCTATGCCACTG	0.353000													39	55					0	0	0.009718	0	0
FBXL5	26234	broad.mit.edu	37	4	15632388	15632388	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:15632388C>T	ENST00000341285.3	-	6	917	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	FBXL5_ENST00000382358.4_Missense_Mutation_p.E139K|FBXL5_ENST00000412094.2_Missense_Mutation_p.E248K	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	265					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GTATCAAGTTCAGTTGCGGGA	0.368000													17	32					0	0	0.004007	0	0
LRP2	4036	broad.mit.edu	37	2	170042414	170042414	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:170042414C>T	ENST00000263816.3	-	50	9729	c.9444G>A	c.(9442-9444)cgG>cgA	p.R3148R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3148	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAACACAAGTCCGCTTGTCAG	0.463000													33	29					0	0	0.010818	0	0
PSIP1	11168	broad.mit.edu	37	9	15468978	15468978	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:15468978C>G	ENST00000380733.4	-	13	1526	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	PSIP1_ENST00000380738.4_Missense_Mutation_p.E395Q			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	395					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTAATCATCTCTGTGTGTTTC	0.328000													13	14					0	0	0.013537	0	0
NXF1	10482	broad.mit.edu	37	11	62571417	62571417	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:62571417C>G	ENST00000531709.2	-	2	175	c.62G>C	c.(61-63)aGa>aCa	p.R21T	NXF1_ENST00000439713.2_Missense_Mutation_p.R21T|NXF1_ENST00000294172.2_Missense_Mutation_p.R21T|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000532297.1_Missense_Mutation_p.R21T	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	21	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCTTCTTTCTTTGAGGGAA	0.473000													36	73					0	0	0.004878	0	0
MTERFD1	51001	broad.mit.edu	37	8	97251787	97251787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:97251787C>T	ENST00000287025.3	-	8	1284	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Missense_Mutation_p.E275K|MTERFD1_ENST00000524341.1_Missense_Mutation_p.E152K	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN	MTERF domain containing 1	396			E -> G (in dbSNP:rs7461970).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CAAAATATTTCATCAGGAATA	0.318000													21	18					0	0	0.010504	0	0
TTC30B	150737	broad.mit.edu	37	2	178416157	178416157	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:178416157C>G	ENST00000408939.3	-	1	1585	c.1335G>C	c.(1333-1335)aaG>aaC	p.K445N		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGCGGAAGATCTTTTCCACCA	0.388000													35	345					0	0	0.004289	0	0
GPAT2	150763	broad.mit.edu	37	2	96690199	96690199	+	Missense_Mutation	SNP	C	C	T	rs144134206	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:96690199C>T	ENST00000434632.1	-	16	2104	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	GPAT2_ENST00000377137.3_Missense_Mutation_p.V549I|GPAT2_ENST00000453542.1_Missense_Mutation_p.V478I|GPAT2_ENST00000359548.4_Missense_Mutation_p.V549I			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	549					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTCAGGAAGACGGGCAGCAGC	0.632000													18	62					0	0	0.006122	0	0
SRRM2	23524	broad.mit.edu	37	16	2813061	2813061	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:2813061G>A	ENST00000301740.8	+	11	3081	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	844	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCCTAAAGTGAAATCTGGAA	0.493000													83	110					0	0	0.014410	0	0
ZNF557	79230	broad.mit.edu	37	19	7083411	7083411	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:7083411G>A	ENST00000414706.1	+	8	1422	c.949G>A	c.(949-951)Gag>Aag	p.E317K	ZNF557_ENST00000439035.2_Missense_Mutation_p.E310K|ZNF557_ENST00000252840.6_Missense_Mutation_p.E317K	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TCATACAGGGGAGTACCCTTA	0.473000													16	46					0	0	0.003163	0	0
ADCY5	111	broad.mit.edu	37	3	123071328	123071328	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:123071328C>G	ENST00000462833.1	-	2	2447	c.1235G>C	c.(1234-1236)cGa>cCa	p.R412P	ADCY5_ENST00000309879.5_Missense_Mutation_p.R62P|ADCY5_ENST00000491190.1_Missense_Mutation_p.R45P|ADCY5_ENST00000470367.1_5'UTR	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	412					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GATGCACTCTCGGGTCTCCTG	0.607000													6	57					0	0	0.001168	0	0
CSE1L	1434	broad.mit.edu	37	20	47707504	47707504	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:47707504C>A	ENST00000262982.2	+	21	2433	c.2310C>A	c.(2308-2310)atC>atA	p.I770I	CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Silent_p.I553I|CSE1L_ENST00000396192.3_Silent_p.I714I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	770					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.I770M(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAAACAAATCTTCATTCTGC	0.294000													24	35					2.44723e-14	2.73888e-14	0.004656	1	0
RBM39	9584	broad.mit.edu	37	20	34312510	34312510	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:34312510G>A	ENST00000361162.6	-	8	1053	c.669C>T	c.(667-669)atC>atT	p.I223I	RBM39_ENST00000407261.4_Silent_p.I66I|RBM39_ENST00000528062.3_Silent_p.I201I|RBM39_ENST00000253363.6_Silent_p.I223I	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	223	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CCTGTACTATGATTGGCACGC	0.428000													7	83					0	0	0.003080	0	0
ZNF791	163049	broad.mit.edu	37	19	12735496	12735496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:12735496C>T	ENST00000343325.4	+	3	325	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.Q23*|ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTGAAGATCAACACAAAAA	0.338000													7	20					0	0	0.004482	0	0
DPYS	1807	broad.mit.edu	37	8	105405047	105405047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:105405047C>A	ENST00000351513.2	-	8	1540	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	470					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TAAATATATTCAGCAAATGGT	0.488000													33	125					2.48696e-23	2.80693e-23	0.003271	1	0
TFEB	7942	broad.mit.edu	37	6	41655684	41655684	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:41655684G>T	ENST00000394283.1	-	5	1858	c.632C>A	c.(631-633)tCc>tAc	p.S211Y	TFEB_ENST00000403298.4_Missense_Mutation_p.S211Y|TFEB_ENST00000373033.1_Missense_Mutation_p.S211Y|TFEB_ENST00000358871.2_Missense_Mutation_p.S225Y|TFEB_ENST00000230323.4_Missense_Mutation_p.S211Y|TFEB_ENST00000420312.1_Missense_Mutation_p.S126Y			P19484	TFEB_HUMAN	transcription factor EB	211					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CGCAGGGCAGGAGCTGCTGGT	0.632000			T	ALPHA	renal (childhood epithelioid)								25	39					3.6726e-16	4.11657e-16	0.003954	1	0
FAM41C	284593	broad.mit.edu	37	1	809798	809798	+	RNA	SNP	C	C	T	rs138047766	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:809798C>T	ENST00000446136.1	-	0	895					NR_027055.1																						CCATGTGTCTCTAAGCACTTA	0.423000													10	61					0	0	0.013537	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409868	121409868	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:121409868G>C	ENST00000393667.3	-	14	8453	c.8343C>G	c.(8341-8343)ctC>ctG	p.L2781L	GOLGB1_ENST00000340645.5_Silent_p.L2776L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2776					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGTTTAAGAGTCCCTGTT	0.413000													63	65					0	0	0.014410	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407381	75407381	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:75407381G>C	ENST00000394810.2	-	4	2178	c.2029C>G	c.(2029-2031)Ctg>Gtg	p.L677V	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.L453V	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	677	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCGAGGCTCAGAGCATCTTCT	0.597000													29	93					0	0	0.005443	0	0
USP25	29761	broad.mit.edu	37	21	17150316	17150316	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:17150316G>C	ENST00000285681.2	+	4	731	c.362G>C	c.(361-363)gGa>gCa	p.G121A	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Missense_Mutation_p.G121A|USP25_ENST00000285679.6_Missense_Mutation_p.G121A|USP25_ENST00000400183.2_Missense_Mutation_p.G121A	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	121					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGGAGACTGGAATAACTGAT	0.343000													14	21					0	0	0.004990	0	0
VPS25	84313	broad.mit.edu	37	17	40927450	40927450	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:40927450G>A	ENST00000253794.2	+	4	345	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	102					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATCATGTGGCGGAGGCCAGAA	0.463000													5	40					0	0	0.001168	0	0
RGS22	26166	broad.mit.edu	37	8	101076067	101076067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:101076067G>A	ENST00000360863.6	-	8	1123	c.929C>T	c.(928-930)tCa>tTa	p.S310L	RGS22_ENST00000523287.1_Missense_Mutation_p.S129L|RGS22_ENST00000523437.1_Missense_Mutation_p.S298L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	310					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCACATGTTGAGAAATGCAT	0.378000													26	41					0	0	0.003954	0	0
ANO8	57719	broad.mit.edu	37	19	17439186	17439186	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:17439186C>T	ENST00000159087.4	-	13	2169	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	671	Glu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCTCCCGTTCAGGGCTGCCG	0.746000													4	3					0	0	0.000602	0	0
TTLL12	23170	broad.mit.edu	37	22	43575733	43575733	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:43575733G>A	ENST00000216129.6	-	5	795	c.732C>T	c.(730-732)taC>taT	p.Y244Y		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	244					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCGTCTCTCCGTAGGCAAAGT	0.677000													18	48					0	0	0.007413	0	0
RANBP2	5903	broad.mit.edu	37	2	109383109	109383109	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:109383109G>A	ENST00000283195.6	+	20	6240	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2038	RanBD1 2.				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						TGTATTCACAGCGGGTAAAAC	0.393000													46	399					0	0	0.011902	0	0
CEP350	9857	broad.mit.edu	37	1	180063734	180063734	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:180063734G>A	ENST00000367607.3	+	34	8912	c.8494G>A	c.(8494-8496)Gat>Aat	p.D2832N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2832						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCCTCTCCAGATATGTGTCC	0.383000													10	21					0	0	0.010729	0	0
NLRC4	58484	broad.mit.edu	37	2	32475489	32475489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475489C>T	ENST00000404025.2	-	5	1932	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	NLRC4_ENST00000402280.1_Missense_Mutation_p.D482N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.D482N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	482					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GATGTAATGTCCGAAATGGAA	0.502000													12	48					0	0	0.010729	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451824	43451824	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:43451824G>A	ENST00000282388.3	-	2	1412	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	373					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGAGCGGCGTGATGAGGCTGC	0.736000													4	1					0	0	0.009096	0	0
MID1	4281	broad.mit.edu	37	X	10417654	10417654	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:10417654C>T	ENST00000317552.4	-	10	2158	c.1758G>A	c.(1756-1758)gtG>gtA	p.V586V	MID1_ENST00000380780.1_Silent_p.V586V|MID1_ENST00000380779.1_Silent_p.V586V|MID1_ENST00000380787.1_Silent_p.V586V|MID1_ENST00000380782.2_Silent_p.*553*|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Silent_p.V586V|MID1_ENST00000380785.1_Silent_p.V586V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	586	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TATTGTGTCTCACCACCCAGT	0.537000													14	52					0	0	0.004007	0	0
CCNG1	900	broad.mit.edu	37	5	162868224	162868224	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:162868224G>A	ENST00000340828.2	+	3	629	c.405G>A	c.(403-405)atG>atA	p.M135I	CCNG1_ENST00000512163.1_Start_Codon_SNP_p.M1I|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000511683.2_Start_Codon_SNP_p.M1I|CCNG1_ENST00000393929.1_Missense_Mutation_p.M135I|CCNG1_ENST00000510664.1_Missense_Mutation_p.M7I|CCNG1_ENST00000504553.1_Start_Codon_SNP_p.M1I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	135					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		CAGACTTGATGAGAATGGAAA	0.368000													17	19					0	0	0.004007	0	0
RFT1	91869	broad.mit.edu	37	3	53133474	53133474	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:53133474G>C	ENST00000296292.3	-	11	1192	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	RFT1_ENST00000394738.3_Silent_p.L338L	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	377					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGAGAACATAGAGACAGTAGG	0.512000													7	29					0	0	0.001984	0	0
C5orf42	65250	broad.mit.edu	37	5	37183092	37183092	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:37183092C>T	ENST00000274258.7	-	26	5421	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	C5orf42_ENST00000508244.1_Missense_Mutation_p.E1731K|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1731K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1731										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGAAGATCTTCTTGAGGGTTA	0.373000													34	54					0	0	0.003271	0	0
EMD	2010	broad.mit.edu	37	X	153608352	153608352	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:153608352G>C	ENST00000369842.4	+	3	526	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	EMD_ENST00000369835.3_Missense_Mutation_p.E45Q|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	80	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCAAGAAAGAGGACGCTTT	0.557000													47	244					0	0	0.014410	0	0
VNN3	55350	broad.mit.edu	37	6	133047901	133047901	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:133047901T>C	ENST00000367927.5	-	4	860	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	VNN3_ENST00000427187.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000450865.2_Missense_Mutation_p.T142A|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000207771.3_Silent_p.L262L|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_Intron					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)		TTGCAGCAAGTAGATTGACTC	0.532000													60	48					0	0	0.014410	0	0
TTC3	7267	broad.mit.edu	37	21	38505047	38505047	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:38505047C>T	ENST00000399017.2	+	17	4171	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	TTC3_ENST00000355666.1_Missense_Mutation_p.S475F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S475F|TTC3_ENST00000540756.1_Missense_Mutation_p.S165F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	475					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTTCTAAATCTTCCAGAGCT	0.323000													17	30					0	0	0.004007	0	0
FEZ1	9638	broad.mit.edu	37	11	125359541	125359541	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:125359541C>T	ENST00000278919.3	-	2	367	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FEZ1_ENST00000524435.1_Missense_Mutation_p.E45K|FEZ1_ENST00000366139.3_Missense_Mutation_p.E45K	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	45					axon guidance|cell adhesion|transport	microtubule|plasma membrane		p.E45K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCAAGCTCGGAGAGGGAG	0.502000													12	36					0	0	0.013537	0	0
COQ10A	93058	broad.mit.edu	37	12	56664100	56664100	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:56664100G>C	ENST00000308197.5	+	5	1004	c.743G>C	c.(742-744)tGa>tCa	p.*248S	COQ10A_ENST00000433805.2_Nonstop_Mutation_p.*216S|COQ10A_ENST00000546544.1_Nonstop_Mutation_p.*231S	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	0						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CACCAGACTTGAGGCAAGGGA	0.498000													30	41					0	0	0.007291	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788621	37788621	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:37788621G>C	ENST00000314103.5	+	14	1788	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						AAGCGGCCCAGACTCGATGAA	0.547000													15	20					0	0	0.006122	0	0
MSH6	2956	broad.mit.edu	37	2	48027598	48027598	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:48027598C>A	ENST00000234420.5	+	4	2628	c.2476C>A	c.(2476-2478)Cat>Aat	p.H826N	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.H524N|MSH6_ENST00000540021.1_Missense_Mutation_p.H696N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTAAAATTCATAATGTTGG	0.413000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				54	29					6.27289e-28	7.10184e-28	0.014410	1	0
TTF2	8458	broad.mit.edu	37	1	117638919	117638919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:117638919C>G	ENST00000369466.4	+	20	3228	c.3184C>G	c.(3184-3186)Cag>Gag	p.Q1062E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGAGGCCCTCAGGTACAAGC	0.433000													7	32					0	0	0.001984	0	0
DLX3	1747	broad.mit.edu	37	17	48072302	48072302	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:48072302T>A	ENST00000434704.2	-	1	286	c.61A>T	c.(61-63)Agc>Tgc	p.S21C		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCATGGCAGCTAAGGGAGCTG	0.642000													32	13					0	0	0.009535	0	0
LAMA3	3909	broad.mit.edu	37	18	21483086	21483086	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr18:21483086G>A	ENST00000313654.9	+	49	6556	c.6315G>A	c.(6313-6315)caG>caA	p.Q2105Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q440Q|LAMA3_ENST00000269217.6_Silent_p.Q496Q|LAMA3_ENST00000399516.3_Silent_p.Q2049Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2105	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAAAGCCAGAAGGTAGAGG	0.353000													41	32					0	0	0.008740	0	0
PDLIM1	9124	broad.mit.edu	37	10	97023765	97023765	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:97023765G>C	ENST00000329399.6	-	4	497	c.389C>G	c.(388-390)tCg>tGg	p.S130W	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	130					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGAGGCAGGCGAGGCGGTAAA	0.552000													7	32					0	0	0.001984	0	0
NLRC4	58484	broad.mit.edu	37	2	32475303	32475303	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475303C>T	ENST00000404025.2	-	5	2118	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E544K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E544K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	544					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCAGAATTTCTTGCTCAGTG	0.443000													10	71					0	0	0.010729	0	0
TBR1	10716	broad.mit.edu	37	2	162273030	162273030	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:162273030C>T	ENST00000389554.3	+	1	426	c.109C>T	c.(109-111)Cat>Tat	p.H37Y		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	37						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTTGCACGATCATCCCATTAT	0.463000													10	47					0	0	0.006214	0	0
LRRN2	10446	broad.mit.edu	37	1	204587650	204587650	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:204587650C>T	ENST00000367175.1	-	1	3683	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	LRRN2_ENST00000367176.3_Missense_Mutation_p.E491K|LRRN2_ENST00000367177.3_Missense_Mutation_p.E491K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	491	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGCCCTGCCTCTTCTGCTGTC	0.642000													12	38					0	0	0.002450	0	0
CACTIN	58509	broad.mit.edu	37	19	3612400	3612400	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:3612400C>T	ENST00000429344.2	-	10	1850	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	CACTIN_ENST00000221899.3_Missense_Mutation_p.E532K|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.E600K	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCGGCGCTCTCGCTGGCGTCT	0.716000													5	9					0	0	0.000602	0	0
CEP250	11190	broad.mit.edu	37	20	34082422	34082422	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:34082422G>A	ENST00000397527.1	+	24	3825	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	CEP250_ENST00000342580.4_Silent_p.E979E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1035	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGTTCAGGAGAAGCTGAGAG	0.527000													27	113					0	0	0.005443	0	0
CACHD1	57685	broad.mit.edu	37	1	65131827	65131827	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:65131827C>T	ENST00000371073.2	+	16	2364	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.I737I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	788	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGTGACAATCAGTCACACAA	0.358000													7	39					0	0	0.003080	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945473	119945473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:119945473C>T	ENST00000297350.4	-	2	475	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	33					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGTTTCTTCGTCATAATGA	0.473000													39	110					0	0	0.005524	0	0
SYT14	255928	broad.mit.edu	37	1	210334291	210334291	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:210334291C>G	ENST00000537238.1	+	9	1849	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	SYT14_ENST00000367019.1_Silent_p.L543L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.L588L|SYT14_ENST00000534859.1_Silent_p.L550L|SYT14_ENST00000367015.1_Silent_p.L486L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000472886.1_Silent_p.L524L	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	524	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CTTTAGGTCTCAACAGCTCTG	0.413000													19	88					0	0	0.006122	0	0
SUFU	51684	broad.mit.edu	37	10	104356924	104356924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:104356924G>C	ENST00000369902.3	+	7	950	c.784G>C	c.(784-786)Gat>Cat	p.D262H	SUFU_ENST00000423559.2_Missense_Mutation_p.D262H|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.D262H	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	262					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CATCGAGACAGATGGCTCCAA	0.567000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	57					0	0	0.004007	0	0
TRPM1	4308	broad.mit.edu	37	15	31324991	31324991	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:31324991C>A	ENST00000542188.1	-	21	3217	c.2904G>T	c.(2902-2904)gtG>gtT	p.V968V	TRPM1_ENST00000397795.2_Silent_p.V929V|TRPM1_ENST00000256552.6_Silent_p.V951V|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	929					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACAGTAGATCACCCGGCCAT	0.483000													18	51					8.10497e-08	8.89422e-08	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179577889	179577889	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179577889G>C	ENST00000589042.1	-	93	27196	c.26972C>G	c.(26971-26973)tCa>tGa	p.S8991*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8674*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7747*|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8674	Ig-like 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACTGTCTGATTCTTCCAG	0.408000													11	15					0	0	0.010729	0	0
LRP1	4035	broad.mit.edu	37	12	57578202	57578202	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:57578202C>T	ENST00000243077.3	+	38	6619	c.6153C>T	c.(6151-6153)atC>atT	p.I2051I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2051					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGTCAGCATCAGCTGGCCCA	0.587000													12	42					0	0	0.010729	0	0
NPR2	4882	broad.mit.edu	37	9	35808547	35808547	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:35808547C>A	ENST00000342694.2	+	19	3009	c.2754C>A	c.(2752-2754)ctC>ctA	p.L918L	SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	918	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TATCTGGCCTCCCAGGCCGAA	0.507000													17	25					2.35188e-11	2.61618e-11	0.006122	1	0
MYH4	4622	broad.mit.edu	37	17	10368023	10368023	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:10368023G>T	ENST00000255381.2	-	6	618	c.508C>A	c.(508-510)Cgt>Agt	p.R170S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	170	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTCACGATCTGTAAAA	0.333000													10	7					0.00621372	0.00660602	0.006214	1	0
SPAG9	9043	broad.mit.edu	37	17	49052212	49052212	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:49052212A>G	ENST00000262013.7	-	28	3828	c.3620T>C	c.(3619-3621)aTa>aCa	p.I1207T	SPAG9_ENST00000510283.1_Missense_Mutation_p.I1063T|SPAG9_ENST00000505279.1_Missense_Mutation_p.I1197T|SPAG9_ENST00000357122.4_Missense_Mutation_p.I1193T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1207					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ACAATAGGGTATAAATGTCCC	0.438000													7	29					0	0	0.003080	0	0
RPS15	6209	broad.mit.edu	37	19	1440439	1440439	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:1440439C>T	ENST00000591804.2	+	5	643	c.317C>T	c.(316-318)tCc>tTc	p.S106F	RPS15_ENST00000591032.1_Missense_Mutation_p.S106F|RPS15_ENST00000233609.4_Missense_Mutation_p.S112F|RPS15_ENST00000593052.1_Missense_Mutation_p.S146F|RPS15_ENST00000589656.2_Missense_Mutation_p.S135F|RPS15_ENST00000586096.2_3'UTR|RPS15_ENST00000585665.1_Missense_Mutation_p.S106F|RPS15_ENST00000586686.2_Missense_Mutation_p.S139F			P62841	RS15_HUMAN	ribosomal protein S15	139					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACTCCTCCCGCTTCATC	0.612000													14	66					0	0	0.001855	0	0
TSFM	10102	broad.mit.edu	37	12	58177060	58177060	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:58177060C>G	ENST00000471530.1	+	2	269	c.269C>G	c.(268-270)tCa>tGa	p.S90*	TSFM_ENST00000540550.1_Silent_p.L75L|TSFM_ENST00000454289.3_Silent_p.L75L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Silent_p.L75L|TSFM_ENST00000548851.1_Silent_p.L75L|TSFM_ENST00000543727.1_Silent_p.L75L|TSFM_ENST00000550559.1_Silent_p.L75L|RP11-571M6.15_ENST00000553083.1_3'UTR																							GCGGGGACCTCAAACAGGTGT	0.567000													36	82					0	0	0.004289	0	0
ITK	3702	broad.mit.edu	37	5	156641251	156641251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:156641251G>C	ENST00000422843.3	+	4	527	c.375G>C	c.(373-375)tgG>tgC	p.W125C	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	125					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAATTTCTGGATGGATGGGA	0.443000			T	SYK	peripheral T-cell lymphoma								20	26					0	0	0.007413	0	0
ATHL1	80162	broad.mit.edu	37	11	291081	291081	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:291081G>A	ENST00000409548.2	+	4	989	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ATHL1_ENST00000409479.1_Missense_Mutation_p.E292K|ATHL1_ENST00000409655.1_Missense_Mutation_p.E115K	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	292					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCCGTGAGGAATGCTACTG	0.637000													6	25					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152362056	152362056	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:152362056C>T	ENST00000397345.3	-	165	23880	c.23678G>A	c.(23677-23679)gGa>gAa	p.G7893E	NEB_ENST00000604864.1_Missense_Mutation_p.G7893E|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000603639.1_Missense_Mutation_p.G7893E|NEB_ENST00000409198.1_Missense_Mutation_p.G6192E|NEB_ENST00000427231.2_Missense_Mutation_p.G7893E|NEB_ENST00000172853.10_Missense_Mutation_p.G6192E|NEB_ENST00000509223.2_Missense_Mutation_p.G23E	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6192					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTGGAGTTCCTTGTCCTAT	0.433000													4	114					0	0	0.009096	0	0
NLRC4	58484	broad.mit.edu	37	2	32476324	32476324	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32476324G>A	ENST00000404025.2	-	5	1097	c.609C>T	c.(607-609)ctC>ctT	p.L203L	NLRC4_ENST00000402280.1_Silent_p.L203L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.L203L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	203	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGCTGAGACGGAGGAAGAAGA	0.527000													12	67					0	0	0.010729	0	0
GDF6	392255	broad.mit.edu	37	8	97157162	97157162	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:97157162G>A	ENST00000287020.5	-	2	1096	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	333	Poly-Arg.				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTgcgccgccgccggcggccg	0.761000													4	6					0	0	0.009096	0	0
ALAD	210	broad.mit.edu	37	9	116151732	116151732	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:116151732C>G	ENST00000409155.3	-	10	983	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	ALAD_ENST00000277315.5_Missense_Mutation_p.E246Q	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	263					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TCCTTTACCTCCCGCACGATG	0.562000													5	35					0	0	0.001168	0	0
C1QB	713	broad.mit.edu	37	1	22987543	22987543	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:22987543C>T	ENST00000509305.1	+	3	766	c.420C>T	c.(418-420)ttC>ttT	p.F140F	C1QB_ENST00000314933.6_Silent_p.F142F			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	142	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCATCCGCTTCGACCACGTGA	0.562000													52	88					0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51524080	51524080	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:51524080C>T	ENST00000371117.3	-	61	11119	c.10844G>A	c.(10843-10845)aGa>aAa	p.R3615K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3615					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTTTTTGCTCTACTGTCAGC	0.428000													32	42					0	0	0.010818	0	0
PIGQ	9091	broad.mit.edu	37	16	624745	624745	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:624745C>T	ENST00000321878.5	+	2	830	c.671C>T	c.(670-672)tCa>tTa	p.S224L	PIGQ_ENST00000026218.5_Missense_Mutation_p.S224L|PIGQ_ENST00000409527.2_Missense_Mutation_p.S224L|PIGQ_ENST00000470411.2_Missense_Mutation_p.S224L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	224	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCGCTGGTCTCAGCTGTCAGT	0.662000													9	4					0	0	0.006214	0	0
SIK3	23387	broad.mit.edu	37	11	116744290	116744290	+	Silent	SNP	C	C	T	rs138704851	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:116744290C>T	ENST00000375300.1	-	13	1649	c.1644G>A	c.(1642-1644)cgG>cgA	p.R548R	SIK3_ENST00000292055.4_Silent_p.R490R|SIK3_ENST00000434315.2_Silent_p.R389R|SIK3_ENST00000446921.2_Silent_p.R500R|SIK3_ENST00000542607.1_Silent_p.R442R|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	490						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGATGCCCTCCGGCCAAGGG	0.612000													4	40					0	0	0.009096	0	0
HFM1	164045	broad.mit.edu	37	1	91779544	91779544	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:91779544G>C	ENST00000370425.3	-	29	3312	c.3214C>G	c.(3214-3216)Ctt>Gtt	p.L1072V	HFM1_ENST00000370424.3_Missense_Mutation_p.L751V|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L304V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1072	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTATGCTAAGATCTTCAGAT	0.269000													20	75					0	0	0.002780	0	0
SRGAP1	57522	broad.mit.edu	37	12	64456784	64456784	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:64456784G>A	ENST00000355086.3	+	7	1413	c.889G>A	c.(889-891)Gag>Aag	p.E297K	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E297K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E257K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	297					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTCCAGACATGAGGGCTTAGA	0.443000													27	42					0	0	0.004656	0	0
GDI2	2665	broad.mit.edu	37	10	5808061	5808061	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:5808061C>T	ENST00000380191.4	-	11	1536	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	GDI2_ENST00000380181.3_Missense_Mutation_p.D371N|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.D420N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	416					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TTTTTAATGTCATCACACGTT	0.388000													19	86					0	0	0.006122	0	0
RUFY3	22902	broad.mit.edu	37	4	71630291	71630291	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:71630291C>G	ENST00000226328.4	+	4	1133	c.570C>G	c.(568-570)ctC>ctG	p.L190L	RUFY3_ENST00000536664.1_Silent_p.L174L|RUFY3_ENST00000417478.2_Silent_p.L250L|RUFY3_ENST00000381006.3_Silent_p.L190L|RUFY3_ENST00000502653.1_Silent_p.L137L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	190	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAACTTCTCAGGTATGAAC	0.353000													8	27					0	0	0.003080	0	0
KMT2D	8085	broad.mit.edu	37	12	49421090	49421090	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:49421090C>G	ENST00000301067.7	-	48	14658	c.14659G>C	c.(14659-14661)Gag>Cag	p.E4887Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGTGGCTCTGGGGCGGGG	0.607000													46	92					0	0	0.014410	0	0
DAK	26007	broad.mit.edu	37	11	61113841	61113841	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:61113841G>A	ENST00000394900.3	+	18	1823	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	532	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGCAGCCGAGGCCACCAA	0.642000													23	69					0	0	0.003954	0	0
UTP20	27340	broad.mit.edu	37	12	101687018	101687018	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:101687018G>A	ENST00000261637.4	+	11	1420	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	416					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAGCAGTTTGAGCAGGTAAG	0.303000													15	54					0	0	0.006122	0	0
SYNE3	161176	broad.mit.edu	37	14	95910912	95910912	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:95910912C>A	ENST00000334258.5	-	9	1700	c.1686G>T	c.(1684-1686)agG>agT	p.R562S	SYNE3_ENST00000553340.1_Missense_Mutation_p.R562S|SYNE3_ENST00000554873.1_Missense_Mutation_p.R319S|SYNE3_ENST00000557275.1_Missense_Mutation_p.R562S	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCAAGAGCTTCCTCTGCAGGG	0.577000													21	25					1.37657e-19	1.5489e-19	0.012319	1	0
XRCC1	7515	broad.mit.edu	37	19	44051123	44051123	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:44051123G>T	ENST00000262887.5	-	11	1753	c.1206C>A	c.(1204-1206)ctC>ctA	p.L402L	XRCC1_ENST00000543982.1_Silent_p.L371L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	402	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCCCTGCCATGAGGTACCTAG	0.582000								Other BER factors					23	30					5.35356e-11	5.94614e-11	0.002780	1	0
FRAS1	80144	broad.mit.edu	37	4	79308853	79308853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:79308853C>T	ENST00000264895.6	+	29	4413	c.3973C>T	c.(3973-3975)Cag>Tag	p.Q1325*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.Q1325*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1324					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACCGTGCCTCAGGTAGGTGT	0.418000													6	11					0	0	0.001984	0	0
APAF1	317	broad.mit.edu	37	12	99061345	99061345	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:99061345C>G	ENST00000357310.1	+	10	1994	c.1417C>G	c.(1417-1419)Ctt>Gtt	p.L473V	APAF1_ENST00000359972.2_Missense_Mutation_p.L462V|APAF1_ENST00000549007.1_Missense_Mutation_p.L473V|APAF1_ENST00000550527.1_Missense_Mutation_p.L462V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L473V|APAF1_ENST00000551964.1_Missense_Mutation_p.L473V|APAF1_ENST00000339433.3_Missense_Mutation_p.L473V|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	473					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GCCGCATACTCTTTCACCAGA	0.398000													39	55					0	0	0.006999	0	0
EXO1	9156	broad.mit.edu	37	1	242030174	242030174	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:242030174C>G	ENST00000366548.3	+	11	1677	c.1084C>G	c.(1084-1086)Caa>Gaa	p.Q362E	EXO1_ENST00000348581.5_Missense_Mutation_p.Q362E|EXO1_ENST00000518483.1_Missense_Mutation_p.Q362E	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	362	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAAACATGTCAAAAGTCAGC	0.383000								Editing and processing nucleases					19	42					0	0	0.002780	0	0
NVL	4931	broad.mit.edu	37	1	224488316	224488316	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:224488316C>A	ENST00000281701.6	-	10	1269	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	NVL_ENST00000340871.4_Missense_Mutation_p.G148V|NVL_ENST00000391875.2_Missense_Mutation_p.G231V|NVL_ENST00000482491.1_Missense_Mutation_p.G61V|NVL_ENST00000469075.1_Missense_Mutation_p.G246V|NVL_ENST00000361463.3_Missense_Mutation_p.G231V	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	337						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCCGGATACTCCAGACACAAT	0.423000													10	25					1.08611e-07	1.19098e-07	0.010729	1	0
MPP6	51678	broad.mit.edu	37	7	24720077	24720077	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:24720077G>C	ENST00000222644.5	+	11	1634	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q	MPP6_ENST00000396475.2_Missense_Mutation_p.E462Q|MPP6_ENST00000409761.1_Missense_Mutation_p.E350Q			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TCCGGAGCTAGAGACGTTACG	0.428000													21	133					0	0	0.012319	0	0
TFPT	29844	broad.mit.edu	37	19	54617841	54617841	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54617841C>T	ENST00000391759.1	-	2	668	c.263G>A	c.(262-264)cGc>cAc	p.R88H	TFPT_ENST00000391758.1_Missense_Mutation_p.R79H|TFPT_ENST00000391757.1_Missense_Mutation_p.R88H	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	88					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCCCGGCAGCGCCGACCTAG	0.647000			T	TCF3	pre-B ALL								11	73					0	0	0.010729	0	0
TMUB1	83590	broad.mit.edu	37	7	150779267	150779267	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:150779267C>T	ENST00000392818.3	-	2	741	c.384G>A	c.(382-384)ttG>ttA	p.L128L	TMUB1_ENST00000476627.1_Silent_p.L128L|TMUB1_ENST00000462940.1_Silent_p.L128L|TMUB1_ENST00000482202.1_Silent_p.L128L|TMUB1_ENST00000297533.4_Silent_p.L128L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	128	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTACCTTTTCAAGGAGCCAA	0.597000													50	172					0	0	0.014410	0	0
PLXNC1	10154	broad.mit.edu	37	12	94542913	94542913	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:94542913G>A	ENST00000258526.4	+	1	415	c.166G>A	c.(166-168)Ggc>Agc	p.G56S		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	56	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAGGAGGACGGCGTGTTTGT	0.706000													11	12					0	0	0.013537	0	0
HOXD8	3234	broad.mit.edu	37	2	176995373	176995373	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:176995373C>T	ENST00000313173.4	+	1	906	c.279C>T	c.(277-279)taC>taT	p.Y93Y	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Silent_p.Y93Y|HOXD8_ENST00000450510.2_Silent_p.Y93Y|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	93					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCAGGAGTACTTCCACCCCG	0.806000													9	20					0	0	0.013537	0	0
FAM111B	374393	broad.mit.edu	37	11	58893367	58893367	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:58893367G>C	ENST00000343597.3	+	4	1988	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F	FAM111B_ENST00000529618.1_Missense_Mutation_p.L569F|FAM111B_ENST00000411426.1_Missense_Mutation_p.L569F	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	599							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ACGAACGATTGAAAAAATATC	0.373000													10	24					0	0	0.010729	0	0
SAGE1	55511	broad.mit.edu	37	X	134988691	134988691	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:134988691C>T	ENST00000535938.1	+	7	884	c.717C>T	c.(715-717)ccC>ccT	p.P239P	SAGE1_ENST00000370709.3_Silent_p.P239P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.P239P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	239										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTATTTCACCCATGAGTACCA	0.408000													9	147					0	0	0.006214	0	0
FBLN7	129804	broad.mit.edu	37	2	112940397	112940397	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:112940397G>A	ENST00000331203.2	+	6	971	c.700G>A	c.(700-702)Gag>Aag	p.E234K	FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.E234K|FBLN7_ENST00000409450.3_Missense_Mutation_p.E188K	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	234	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTACGGGCAGGAGGGGCGCCC	0.612000													38	35					0	0	0.007835	0	0
BTBD7	55727	broad.mit.edu	37	14	93708797	93708797	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:93708797G>A	ENST00000334746.5	-	11	3528	c.3221C>T	c.(3220-3222)tCa>tTa	p.S1074L	BTBD7_ENST00000393170.2_Missense_Mutation_p.S648L|BTBD7_ENST00000554565.1_Missense_Mutation_p.S723L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1074										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCAGAAAGTGAAGGTCTGTT	0.517000													19	49					0	0	0.008871	0	0
PCGF3	10336	broad.mit.edu	37	4	737366	737366	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:737366C>T	ENST00000362003.5	+	7	762	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	PCGF3_ENST00000505655.2_Missense_Mutation_p.R123W|PCGF3_ENST00000470161.2_Missense_Mutation_p.R123W|PCGF3_ENST00000521023.2_Missense_Mutation_p.R89W	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AGATTCCCATCGGAATGGTGA	0.567000													7	7					0	0	0.001984	0	0
IBTK	25998	broad.mit.edu	37	6	82933179	82933179	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:82933179G>C	ENST00000306270.7	-	8	1651	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	IBTK_ENST00000510291.1_Missense_Mutation_p.Q368E|IBTK_ENST00000503631.1_Missense_Mutation_p.Q368E	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	368					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)		TTCTTGCACTGATAGTCTGCA	0.373000													15	17					0	0	0.006122	0	0
ZNF813	126017	broad.mit.edu	37	19	53994290	53994290	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53994290G>C	ENST00000396403.4	+	4	932	c.804G>C	c.(802-804)gaG>gaC	p.E268D	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACACTGGGGAGAAACCTTACA	0.418000													18	69					0	0	0.004990	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665747	27665747	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27665747G>C	ENST00000543753.1	+	3	299	c.252G>C	c.(250-252)agG>agC	p.R84S	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R66S|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R84S	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	84						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGGCGTCCAGGAACCTTCTTC	0.612000													7	71					0	0	0.004482	0	0
PEX12	5193	broad.mit.edu	37	17	33902993	33902993	+	Silent	SNP	G	G	C	rs61752110		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:33902993G>C	ENST00000225873.4	-	3	1495	c.888C>G	c.(886-888)ctC>ctG	p.L296L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGGGTAAGAGGGGAGAAT	0.473000													23	44					0	0	0.012319	0	0
GZMM	3004	broad.mit.edu	37	19	548596	548596	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:548596C>G	ENST00000264553.3	+	3	305	c.267C>G	c.(265-267)ctC>ctG	p.L89L		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	89	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCGGTCTCACCTTCCACA	0.677000													15	54					0	0	0.003163	0	0
CSRP2	1466	broad.mit.edu	37	12	77253407	77253407	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:77253407T>C	ENST00000311083.5	-	5	548	c.425A>G	c.(424-426)aAc>aGc	p.N142S	CSRP2_ENST00000552330.1_Missense_Mutation_p.N192S|CSRP2_ENST00000547435.1_Missense_Mutation_p.N142S|CSRP2_ENST00000546966.1_Missense_Mutation_p.N142S	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	142	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TCGGAAACAGTTTTTGTGCCA	0.403000													4	19					0	0	0.009096	0	0
BMP6	654	broad.mit.edu	37	6	7862676	7862676	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:7862676G>A	ENST00000283147.6	+	4	1308	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	383					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCGACAACAGAGTCGTAATC	0.602000													37	50					0	0	0.006999	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745483	10745483	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10745483C>T	ENST00000586078.1	+	11	984	c.875C>T	c.(874-876)tCt>tTt	p.S292F	SLC44A2_ENST00000407327.4_Missense_Mutation_p.S290F|SLC44A2_ENST00000335757.5_Missense_Mutation_p.S292F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	292					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGGCCGGCTCTGATGTCTCT	0.547000													91	58					0	0	0.014410	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548585	102548585	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:102548585T>A	ENST00000334701.7	-	11	2599	c.2318A>T	c.(2317-2319)gAg>gTg	p.E773V	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E651V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	651					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CTTATCAGCCTCTGCCTTTTG	0.463000													9	143					0	0	0.006214	0	0
ACSL5	51703	broad.mit.edu	37	10	114136150	114136150	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:114136150C>G	ENST00000356116.1	+	1	195	c.83C>G	c.(82-84)tCa>tGa	p.S28*	ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					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)		AGGAAGAACTCAGAGCCGGGA	0.617000													44	58					0	0	0.011902	0	0
AATF	26574	broad.mit.edu	37	17	35348108	35348108	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:35348108G>A	ENST00000225402.5	+	8	1601	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	450	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ATGCTCATCTGAAGGACTTGG	0.373000													34	53					0	0	0.003755	0	0
SPON1	10418	broad.mit.edu	37	11	14280987	14280987	+	RNA	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:14280987G>A	ENST00000310358.7	+	0	2189							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CACGGTCAACGAGGAGTGCTG	0.677000													4	8					0	0	0.009096	0	0
TACC2	10579	broad.mit.edu	37	10	124008179	124008179	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:124008179C>G	ENST00000369005.1	+	20	8754	c.8414C>G	c.(8413-8415)tCa>tGa	p.S2805*	TACC2_ENST00000369004.3_Nonsense_Mutation_p.S865*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S883*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2805*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S428*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S951*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2732*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S432*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S895*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S853*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2732*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2683*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S951*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2805						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAGAGAAGTCAGTCTCCCAC	0.592000													14	91					0	0	0.002450	0	0
MNAT1	4331	broad.mit.edu	37	14	61278789	61278789	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:61278789G>A	ENST00000261245.4	+	5	606	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	MNAT1_ENST00000539616.2_Missense_Mutation_p.E169K	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	169					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ACAAAAAGAAGAACAACTGCA	0.323000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					26	60					0	0	0.007291	0	0
ZNF185	7739	broad.mit.edu	37	X	152128414	152128414	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:152128414C>T	ENST00000535861.1	+	18	1722	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	ZNF185_ENST00000318504.7_Silent_p.F467F|ZNF185_ENST00000539731.1_Silent_p.F529F|ZNF185_ENST00000454925.1_Silent_p.F164F|ZNF185_ENST00000370270.2_Silent_p.F558F|ZNF185_ENST00000449285.2_Silent_p.F527F|ZNF185_ENST00000318529.8_Silent_p.F305F|ZNF185_ENST00000324823.6_Silent_p.F294F|ZNF185_ENST00000370268.4_Silent_p.F526F	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	526						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGCAATTCGTCAGACGAG	0.577000													13	37					0	0	0.001855	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17365098	17365098	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:17365098G>C	ENST00000377602.4	-	7	768	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	232					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATAGTCACAAGATTTGTTTTA	0.343000													29	44					0	0	0.013726	0	0
TNPO2	30000	broad.mit.edu	37	19	12829933	12829933	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:12829933G>C	ENST00000425528.1	-	5	592	c.235C>G	c.(235-237)Cag>Gag	p.Q79E	TNPO2_ENST00000441499.1_Missense_Mutation_p.Q79E|TNPO2_ENST00000592287.1_Missense_Mutation_p.Q79E|TNPO2_ENST00000450764.2_Missense_Mutation_p.Q79E|TNPO2_ENST00000588216.1_Missense_Mutation_p.Q79E|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.Q79E			O14787	TNPO2_HUMAN	transportin 2	79	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGAAGCTCTGATAGTGTGCC	0.582000													17	83					0	0	0.004007	0	0
ZNF460	10794	broad.mit.edu	37	19	57802323	57802323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:57802323G>A	ENST00000360338.3	+	3	736	c.414G>A	c.(412-414)atG>atA	p.M138I	ZNF460_ENST00000537645.1_Missense_Mutation_p.M97I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTGTTCAATGATGATACAGA	0.428000													39	53					0	0	0.008740	0	0
FAM111B	374393	broad.mit.edu	37	11	58892225	58892225	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:58892225G>A	ENST00000343597.3	+	4	846	c.655G>A	c.(655-657)Gag>Aag	p.E219K	FAM111B_ENST00000529618.1_Missense_Mutation_p.E189K|FAM111B_ENST00000411426.1_Missense_Mutation_p.E189K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	219							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTTGAAGGGTGAGACTATTGA	0.358000													12	37					0	0	0.013537	0	0
ZC3H14	79882	broad.mit.edu	37	14	89075708	89075708	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:89075708C>G	ENST00000251038.5	+	14	2191	c.1966C>G	c.(1966-1968)Cat>Gat	p.H656D	ZC3H14_ENST00000555900.1_Missense_Mutation_p.H358D|ZC3H14_ENST00000556945.1_Missense_Mutation_p.H525D|ZC3H14_ENST00000557607.1_Missense_Mutation_p.H345D|ZC3H14_ENST00000555755.1_Missense_Mutation_p.H651D|ZC3H14_ENST00000318308.6_Missense_Mutation_p.H227D|ZC3H14_ENST00000359301.3_Missense_Mutation_p.H491D|ZC3H14_ENST00000393514.5_Missense_Mutation_p.H631D|ZC3H14_ENST00000406216.3_Missense_Mutation_p.H202D|ZC3H14_ENST00000302216.8_Missense_Mutation_p.H500D|ZC3H14_ENST00000336693.4_Missense_Mutation_p.H491D	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	656						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCCCTTCACTCATGTGAGTAG	0.368000													40	34					0	0	0.007835	0	0
ANO8	57719	broad.mit.edu	37	19	17439116	17439116	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:17439116C>G	ENST00000159087.4	-	13	2239	c.2081G>C	c.(2080-2082)gGc>gCc	p.G694A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	694						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGGGTCCGGGCCCCCGTCGGG	0.736000													7	5					0	0	0.001984	0	0
INSRR	3645	broad.mit.edu	37	1	156815774	156815774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:156815774C>T	ENST00000368195.3	-	9	2344	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	650	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTAGAGGTCGCCGTCCTCT	0.706000													11	17					0	0	0.008291	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085603	8085603	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:8085603G>C	ENST00000075120.7	-	3	489	c.249C>G	c.(247-249)ctC>ctG	p.L83L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	83					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGTTGACGAAGAGTCCGACGG	0.552000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	14					0	0	0.010729	0	0
RBM17	84991	broad.mit.edu	37	10	6154272	6154272	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:6154272G>C	ENST00000446108.1	+	8	1448	c.804G>C	c.(802-804)gaG>gaC	p.E268D	RBM17_ENST00000379888.4_Missense_Mutation_p.E268D	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	268	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGTCAGTGGAGAAGACCAGCA	0.622000													18	22					0	0	0.007413	0	0
SALL1	6299	broad.mit.edu	37	16	51175814	51175814	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:51175814G>C	ENST00000440970.1	-	2	459	c.28C>G	c.(28-30)Caa>Gaa	p.Q10E	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.Q107E|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	107					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGTCCACTTGATCTGTTTTG	0.522000													22	72					0	0	0.003954	0	0
LHX5	64211	broad.mit.edu	37	12	113907101	113907101	+	Missense_Mutation	SNP	C	C	A	rs148774477		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:113907101C>A	ENST00000261731.3	-	2	796	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	75	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CGCACCAGGTCGCTGGGCGAG	0.602000													37	65					4.14481e-20	4.66729e-20	0.006230	1	0
DMBT1	1755	broad.mit.edu	37	10	124396713	124396713	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:124396713C>T	ENST00000368909.3	+	51	6546	c.6440C>T	c.(6439-6441)tCt>tTt	p.S2147F	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1519F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S867F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1519F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2137F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2147F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2137F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2147	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGGCTTTTCTGCCAGTGAC	0.507000													12	34					0	0	0.001855	0	0
SEC24D	9871	broad.mit.edu	37	4	119736298	119736298	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:119736298G>A	ENST00000379735.5	-	6	960	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SEC24D_ENST00000280551.6_Missense_Mutation_p.P229L|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	229	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCCATCTGGGGACCAGAGTT	0.507000													7	43					0	0	0.001984	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797929	131797929	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:131797929G>A	ENST00000392953.3	+	8	1539	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	ARHGEF4_ENST00000355771.3_Silent_p.Q269Q|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.Q340Q|ARHGEF4_ENST00000525839.1_Silent_p.Q340Q	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	340	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ACCGCTGCCAGAAGGCCTTCG	0.657000													11	8					0	0	0.008291	0	0
ANKS6	203286	broad.mit.edu	37	9	101552768	101552768	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:101552768C>T	ENST00000353234.4	-	2	527	c.480G>A	c.(478-480)gtG>gtA	p.V160V	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.V160V|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	160										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGAGCAGCTTCACCACACCCA	0.637000													6	19					0	0	0.001168	0	0
NLRC4	58484	broad.mit.edu	37	2	32475346	32475346	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475346C>G	ENST00000404025.2	-	5	2075	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	NLRC4_ENST00000402280.1_Missense_Mutation_p.W529C|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.W529C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	529					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATTCCTGTCTCCAGAGAGGCC	0.473000													16	66					0	0	0.003163	0	0
UBL3	5412	broad.mit.edu	37	13	30346273	30346273	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:30346273G>A	ENST00000380680.4	-	3	1344	c.199C>T	c.(199-201)Cta>Tta	p.L67L		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	67	Ubiquitin-like.					intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTTCCATGTAGAAATCGTCCT	0.383000													12	51					0	0	0.010729	0	0
TNXB	7148	broad.mit.edu	37	6	32053680	32053680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:32053680C>T	ENST00000375244.3	-	7	3196	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	TNXB_ENST00000375247.2_Missense_Mutation_p.E999K			P22105	TENX_HUMAN	tenascin XB	1086	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGGCCCCTCGGGCACCCGC	0.662000													22	46					0	0	0.010504	0	0
S1PR1	1901	broad.mit.edu	37	1	101704732	101704732	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:101704732C>G	ENST00000305352.6	+	2	567	c.192C>G	c.(190-192)atC>atG	p.I64M	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	64					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGGAGAACATCTTTGTCTTGC	0.468000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	42					0	0	0.003271	0	0
PDE7B	27115	broad.mit.edu	37	6	136476807	136476807	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:136476807C>T	ENST00000308191.6	+	8	925	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	208	Catalytic (By similarity).				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)	GCTTGGACTGCTGGCTGCAGC	0.458000													8	18					0	0	0.003080	0	0
SGSM1	129049	broad.mit.edu	37	22	25308623	25308623	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:25308623C>T	ENST00000400358.4	+	22	2889	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	SGSM1_ENST00000400359.4_Silent_p.F999F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	999	Rab-GAP TBC.					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						CCCTTGCCTTCAGCTGCTTCA	0.507000													4	6					0	0	0.009096	0	0
ZNF160	90338	broad.mit.edu	37	19	53573394	53573394	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:53573394G>A	ENST00000601421.1	-	3	1161	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF160_ENST00000429604.1_Silent_p.F131F|ZNF160_ENST00000599056.1_Silent_p.F131F|ZNF160_ENST00000418871.1_Silent_p.F131F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	131					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGGGTTCCTTGAAGGAAAAGT	0.428000													21	85					0	0	0.012319	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601098	17601098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:17601098C>T	ENST00000259963.3	+	1	513	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	153						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCTTCCCTTCGGGCGGCGCT	0.731000													12	24					0	0	0.001855	0	0
TMEM99	147184	broad.mit.edu	37	17	38991526	38991526	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:38991526C>G	ENST00000301665.3	+	3	1062	c.758C>G	c.(757-759)tCt>tGt	p.S253C		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	253						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGTTTGTTTTCTACGTTTACC	0.428000													15	104					0	0	0.004007	0	0
EIF4E3	317649	broad.mit.edu	37	3	71745638	71745638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:71745638C>T	ENST00000425534.3	-	4	385	c.378G>A	c.(376-378)tgG>tgA	p.W126*	EIF4E3_ENST00000421769.2_Nonsense_Mutation_p.W20*|EIF4E3_ENST00000448225.1_Nonsense_Mutation_p.W20*|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000295612.3_Nonsense_Mutation_p.W20*|EIF4E3_ENST00000389826.3_Nonsense_Mutation_p.W20*	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3						regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		CTTTCATCTTCCATACGCCAC	0.463000													18	35					0	0	0.006122	0	0
ARL14EP	120534	broad.mit.edu	37	11	30352781	30352781	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:30352781G>C	ENST00000282032.3	+	2	501	c.286G>C	c.(286-288)Gat>Cat	p.D96H		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		AATTGACTTAGATGATGCCAC	0.353000													17	86					0	0	0.004990	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40747018	40747018	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:40747018C>G	ENST00000372759.3	+	7	938	c.773C>G	c.(772-774)tCt>tGt	p.S258C		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	258						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCCTTAGGATCTAAACGCTCT	0.363000													26	105					0	0	0.005443	0	0
SPEF2	79925	broad.mit.edu	37	5	35800118	35800118	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:35800118G>C	ENST00000440995.2	+	34	4864	c.4864G>C	c.(4864-4866)Gac>Cac	p.D1622H	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.D1627H|SPEF2_ENST00000303129.4_Missense_Mutation_p.D424H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1627					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCCAGCTTGACTACACACA	0.463000													83	157					0	0	0.014410	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409901	1409901	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:1409901G>A	ENST00000270349.9	-	10	1460	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R445C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	445					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.R445G(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGAGCTCACGGTGTCTGTGC	0.607000													14	48					0	0	0.002450	0	0
IMP4	92856	broad.mit.edu	37	2	131102212	131102212	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:131102212G>A	ENST00000259239.3	+	3	831	c.123G>A	c.(121-123)ctG>ctA	p.L41L	IMP4_ENST00000409935.1_Silent_p.L41L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	41	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	p.L41L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAAACCGCCTGATTCCCACTG	0.537000													33	35					0	0	0.004289	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533855	31533855	+	Missense_Mutation	SNP	G	G	C	rs151265075	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31533855G>C	ENST00000215885.3	-	4	1159	c.907C>G	c.(907-909)Cga>Gga	p.R303G		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	303					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCTTCTGTCGAGGCTTGGGA	0.657000													24	121					0	0	0.003330	0	0
IFIH1	64135	broad.mit.edu	37	2	163133412	163133412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:163133412C>A	ENST00000263642.2	-	11	2484	c.2089G>T	c.(2089-2091)Gaa>Taa	p.E697*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	697					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTCATTTTCATATTCTGGG	0.333000													27	42					5.61819e-17	6.31669e-17	0.005443	1	0
PRRT3	285368	broad.mit.edu	37	3	9991575	9991575	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:9991575G>A	ENST00000412055.1	-	2	354	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PRRT3_ENST00000411976.2_Silent_p.V75V|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	75						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGCGTGGCGGACATCAGAGT	0.627000													29	35					0	0	0.006320	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205727	160205727	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:160205727G>C	ENST00000392783.2	-	29	5423	c.4928C>G	c.(4927-4929)tCt>tGt	p.S1643C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S1609C|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S1543C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S1607C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGAATATTAGAAGTAACCAC	0.378000													13	56					0	0	0.003163	0	0
MYCBP2	23077	broad.mit.edu	37	13	77847640	77847640	+	Silent	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:77847640G>T	ENST00000407578.2	-	5	1178	c.912C>A	c.(910-912)acC>acA	p.T304T	MYCBP2_ENST00000544440.2_Silent_p.T266T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.T266T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCCATTGTTGGTGAGGATAG	0.423000													35	31					1.45844e-13	1.62851e-13	0.013726	1	0
CUL9	23113	broad.mit.edu	37	6	43189468	43189468	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:43189468C>T	ENST00000252050.4	+	35	6882	c.6798C>T	c.(6796-6798)ctC>ctT	p.L2266L	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.L2156L|CUL9_ENST00000372647.2_Silent_p.L2238L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2266					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.L2266L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCGCTGCCTCAAGTCCTGGA	0.597000													5	13					0	0	0.003080	0	0
TECRL	253017	broad.mit.edu	37	4	65147253	65147253	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:65147253G>A	ENST00000381210.3	-	10	967	c.857C>T	c.(856-858)cCa>cTa	p.P286L	TECRL_ENST00000507440.1_Missense_Mutation_p.P286L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	286					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTATAATTTGGACTTGGGAA	0.323000													16	19					0	0	0.006122	0	0
SLC9A9	285195	broad.mit.edu	37	3	143567035	143567035	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:143567035G>T	ENST00000316549.6	-	1	338	c.130C>A	c.(130-132)Cat>Aat	p.H44N	SLC9A9_ENST00000498717.2_5'UTR	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	44					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGGAATCGATGATTTTTAAAT	0.393000													22	51					6.44725e-10	7.12847e-10	0.014323	1	0
HGSNAT	138050	broad.mit.edu	37	8	43014177	43014177	+	Silent	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:43014177T>C	ENST00000458501.2	+	4	567	c.567T>C	c.(565-567)gaT>gaC	p.D189D	HGSNAT_ENST00000379644.4_Silent_p.D161D			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	189					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATCCAGTTGATAGTAACCTTC	0.388000													6	25					0	0	0.004482	0	0
ATG4C	84938	broad.mit.edu	37	1	63269499	63269499	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:63269499C>G	ENST00000317868.4	+	2	249	c.42C>G	c.(40-42)acC>acG	p.T14T	ATG4C_ENST00000371120.3_Silent_p.T14T	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	14					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AGCTAAAAACCAAATTTATAT	0.294000													7	15					0	0	0.006214	0	0
OFD1	8481	broad.mit.edu	37	X	13776466	13776466	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:13776466C>T	ENST00000380567.1	+	16	2005	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.S518F|OFD1_ENST00000380550.3_Missense_Mutation_p.S478F			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	518					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATTGAGCATTCTGCACAGCTG	0.363000													7	31					0	0	0.001984	0	0
DHRS4	10901	broad.mit.edu	37	14	24438015	24438015	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:24438015G>A	ENST00000313250.5	+	8	975	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	DHRS4_ENST00000397073.2_Missense_Mutation_p.E161K|DHRS4_ENST00000558581.1_Missense_Mutation_p.E224K|DHRS4_ENST00000397074.3_Missense_Mutation_p.E138K|DHRS4_ENST00000397075.3_Missense_Mutation_p.E172K|DHRS4_ENST00000421831.1_Missense_Mutation_p.E206K|DHRS4_ENST00000559632.1_Missense_Mutation_p.E179K|DHRS4_ENST00000308178.8_Missense_Mutation_p.E120K|DHRS4_ENST00000558263.1_Silent_p.*189*|DHRS4_ENST00000382761.3_Silent_p.*171*	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	258						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCTGTGCTCTGAAGATGCCAG	0.567000													7	16					0	0	0.013537	0	0
TDRD1	56165	broad.mit.edu	37	10	115978319	115978319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:115978319C>T	ENST00000251864.2	+	18	2623	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.Q428*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.Q824*|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.Q824*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	824					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTTCCCTTTCAGGGAATACG	0.353000													13	48					0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8518229	8518229	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:8518229C>T	ENST00000381196.4	-	18	1705	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	PTPRD_ENST00000358503.5_Missense_Mutation_p.D375N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D388N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D378N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D388N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D378N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D388N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D385N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D385N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D375N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D388N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	388	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATTCATAATCCGAGTAGGGA	0.493000										TSP Lung(15;0.13)			25	100					0	0	0.007291	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182360	82182360	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:82182360C>G	ENST00000258169.4	-	5	509	c.459G>C	c.(457-459)aaG>aaC	p.K153N	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.K124N	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	153					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TTAAGAACATCTTCTTTGCTT	0.463000													11	53					0	0	0.008291	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47634045	47634045	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:47634045G>T	ENST00000371917.4	+	33	4467	c.4467G>T	c.(4465-4467)tgG>tgT	p.W1489C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1489					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCTGACATGGAGACCTGTAG	0.353000													13	122					3.45872e-05	3.73674e-05	0.004007	1	0
KDM6A	7403	broad.mit.edu	37	X	44913173	44913173	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:44913173C>T	ENST00000377967.4	+	10	889	c.848C>T	c.(847-849)tCt>tTt	p.S283F	KDM6A_ENST00000543216.1_Missense_Mutation_p.S283F|KDM6A_ENST00000536777.1_Missense_Mutation_p.S283F|KDM6A_ENST00000382899.4_Missense_Mutation_p.S283F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	283					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GATCCTAATTCTGGCCAGTCC	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	84					0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179399306	179399306	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:179399306G>A	ENST00000589042.1	-	358	102260	c.102036C>T	c.(102034-102036)atC>atT	p.I34012I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I25139I|TTN_ENST00000591111.1_Silent_p.I32371I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I25072I|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Silent_p.I24947I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.I31444I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32371	Ig-like 150.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATGGGTTGATACCACTCA	0.418000													8	53					0	0	0.006214	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025846	129025846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:129025846C>T	ENST00000259241.6	-	2	1139	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	376					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGCTCCTCGCGGCTCCTC	0.667000													21	39					0	0	0.012319	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64536672	64536672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:64536672C>T	ENST00000498707.1	-	31	5107	c.4765G>A	c.(4765-4767)Gag>Aag	p.E1589K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1561K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1589	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCATGCACCTCGTTTTTGTTG	0.532000													29	78					0	0	0.010818	0	0
TP53	7157	broad.mit.edu	37	17	7577509	7577509	+	Missense_Mutation	SNP	C	C	T	rs121912652		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:7577509C>T	ENST00000420246.2	-	7	904	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	TP53_ENST00000445888.2_Missense_Mutation_p.E258K|TP53_ENST00000413465.2_Missense_Mutation_p.E258K|TP53_ENST00000455263.2_Missense_Mutation_p.E258K|TP53_ENST00000269305.4_Missense_Mutation_p.E258K|TP53_ENST00000359597.4_Missense_Mutation_p.E258K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGGAGTCTTCCAGTGTGATG	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	6					0	0	0.004990	0	0
TAOK2	9344	broad.mit.edu	37	16	29993016	29993016	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:29993016G>A	ENST00000308893.4	+	9	1733	c.690G>A	c.(688-690)gcG>gcA	p.A230A	TAOK2_ENST00000543033.1_Silent_p.A230A|TAOK2_ENST00000279394.3_Silent_p.A230A|TAOK2_ENST00000416441.2_Silent_p.A57A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	230	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACATGAATGCGATGAGTGCCT	0.527000													7	40					0	0	0.003080	0	0
CASC4	113201	broad.mit.edu	37	15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:44630079C>G	ENST00000299957.6	+	5	994	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Nonsense_Mutation_p.S232*	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	232						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299000													20	23					0	0	0.014323	0	0
SSPO	23145	broad.mit.edu	37	7	149509070	149509070	+	RNA	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:149509070C>T	ENST00000378016.2	+	0	9616							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGTGCCATCGGCACCGGTT	0.697000													13	44					0	0	0.013537	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716986	222716986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:222716986G>C	ENST00000343410.6	-	2	925	c.867C>G	c.(865-867)ttC>ttG	p.F289L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	289					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AATAAATATAGAACTTGCGAT	0.463000													90	107					0	0	0.014410	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284584	18284584	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:18284584G>A	ENST00000377369.2	+	10	1806		c.e10-1		SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000377374.4_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTAAAATAGAAAAGCCCAG	0.343000													8	36					0	0	0.003080	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245289	65245289	+	Silent	SNP	C	C	T	rs74786628	by1000genomes	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:65245289C>T	ENST00000234256.3	+	6	1362	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	SLC1A4_ENST00000531327.1_Silent_p.I75I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	373					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TTCTCCCCATCGGGGCCACCG	0.512000													16	44					0	0	0.004990	0	0
PLEC	5339	broad.mit.edu	37	8	144997248	144997248	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:144997248C>G	ENST00000322810.4	-	31	7429	c.7260G>C	c.(7258-7260)ctG>ctC	p.L2420L	PLEC_ENST00000345136.3_Silent_p.L2283L|PLEC_ENST00000354589.3_Silent_p.L2283L|PLEC_ENST00000527096.1_Silent_p.L2306L|PLEC_ENST00000436759.2_Silent_p.L2310L|PLEC_ENST00000354958.2_Silent_p.L2261L|PLEC_ENST00000398774.2_Silent_p.L2251L|PLEC_ENST00000357649.2_Silent_p.L2287L|PLEC_ENST00000356346.3_Silent_p.L2269L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2420	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCCACACTCAGCCGCGCGG	0.637000													6	14					0	0	0.001984	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75924774	75924774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:75924774C>T	ENST00000262207.4	+	3	833	c.365C>T	c.(364-366)gCa>gTa	p.A122V	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	122						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATTTGGGAGCACACTGGGGA	0.383000													7	59					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100682141	100682141	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:100682141G>C	ENST00000306151.4	+	3	7508	c.7444G>C	c.(7444-7446)Gac>Cac	p.D2482H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2482	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACACCAGCAC	0.517000													124	308					0	0	0.014410	0	0
RAB25	57111	broad.mit.edu	37	1	156039504	156039504	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:156039504C>G	ENST00000361084.5	+	4	717	c.476C>G	c.(475-477)tCt>tGt	p.S159C	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	159					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTGGACTCTACCAATGTT	0.468000													157	230					0	0	0.014410	0	0
ALAD	210	broad.mit.edu	37	9	116153168	116153168	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:116153168C>G	ENST00000409155.3	-	5	503	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	ALAD_ENST00000277315.5_Missense_Mutation_p.E86Q	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	103					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGGATTGCCTCAATAGCTGGG	0.582000													19	19					0	0	0.007413	0	0
SCAPER	49855	broad.mit.edu	37	15	77096936	77096936	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:77096936G>A	ENST00000563290.1	-	6	527	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SCAPER_ENST00000324767.7_Silent_p.F144F|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	143						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCAATGCTTTGAAATCTCTTA	0.358000													3	10					0	0	0.004672	0	0
CCDC121	79635	broad.mit.edu	37	2	27850301	27850301	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27850301C>T	ENST00000324364.3	-	2	546	c.366G>A	c.(364-366)caG>caA	p.Q122Q	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Silent_p.Q284Q	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	122										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGTAATGTCTGTATTTCTT	0.443000													97	98					0	0	0.014410	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816788	69816788	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:69816788C>T	ENST00000251566.4	-	1	721	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	231						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAAAACTCTTCCCAAAAATGA	0.289000													6	31					0	0	0.001168	0	0
MSLN	10232	broad.mit.edu	37	16	818678	818678	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:818678G>C	ENST00000566549.1	+	17	2231	c.1814G>C	c.(1813-1815)gGa>gCa	p.G605A	MSLN_ENST00000382862.3_Missense_Mutation_p.G613A|MSLN_ENST00000563941.1_Missense_Mutation_p.G605A|MSLN_ENST00000545450.2_Missense_Mutation_p.G605A			Q13421	MSLN_HUMAN	mesothelin	613					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGCCTCCTAGGACCTGGACCT	0.711000													17	56					0	0	0.006122	0	0
ZAP70	7535	broad.mit.edu	37	2	98349418	98349418	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:98349418C>T	ENST00000264972.5	+	5	851	c.636C>T	c.(634-636)ctC>ctT	p.L212L	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.L86L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	212	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACCACTACCTCATCAGCCAAG	0.602000													4	38					0	0	0.000602	0	0
C19orf48	84798	broad.mit.edu	37	19	51301399	51301399	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:51301399G>A	ENST00000598463.1	-	5	1405	c.307C>T	c.(307-309)Cca>Tca	p.P103S	C19orf48_ENST00000391812.1_Missense_Mutation_p.P103S|C19orf48_ENST00000345523.4_Missense_Mutation_p.P103S|C19orf48_ENST00000596655.1_Missense_Mutation_p.P103S			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	103										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TTCACCCCTGGAGCACCAGGC	0.617000													30	68					0	0	0.008361	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241517259	241517259	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:241517259G>A	ENST00000270357.4	+	11	2028	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTTGGGGACGAGGCCCCCAG	0.647000													6	8					0	0	0.001984	0	0
KIFC1	3833	broad.mit.edu	37	6	33371133	33371133	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:33371133C>G	ENST00000428849.2	+	4	743	c.293C>G	c.(292-294)gCt>gGt	p.A98G	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	98					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTTCCACAGCTATTGCCACA	0.493000													47	58					0	0	0.014410	0	0
MUC6	4588	broad.mit.edu	37	11	1018562	1018562	+	Silent	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:1018562C>A	ENST00000421673.2	-	31	4289	c.4239G>T	c.(4237-4239)ggG>ggT	p.G1413G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1413	Pro-rich.|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)		GGACGGGACTCCCCGCCGTAG	0.582000													19	68					6.21321e-17	6.98033e-17	0.002780	1	0
GNB4	59345	broad.mit.edu	37	3	179137281	179137281	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:179137281T>C	ENST00000232564.3	-	4	395	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	GNB4_ENST00000468623.1_Missense_Mutation_p.M37V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	37					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ACAGAGTCCATATTTGATGTA	0.373000													45	91					0	0	0.014410	0	0
FAT2	2196	broad.mit.edu	37	5	150901481	150901481	+	Missense_Mutation	SNP	C	C	T	rs137870998		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:150901481C>T	ENST00000261800.5	-	18	10685	c.10673G>A	c.(10672-10674)cGa>cAa	p.R3558Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3558	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGGGTCTCGGTCTGTGGC	0.582000													14	13					0	0	0.001855	0	0
HSF2BP	11077	broad.mit.edu	37	21	45053255	45053255	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:45053255G>A	ENST00000291560.2	-	5	670	c.339C>T	c.(337-339)ctC>ctT	p.L113L	HSF2BP_ENST00000542962.1_Silent_p.L38L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	113					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCTGCTGCAGGAGTTGCTGCT	0.448000													5	48					0	0	0.000602	0	0
IMPDH2	3615	broad.mit.edu	37	3	49064267	49064267	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:49064267C>T	ENST00000326739.4	-	7	711	c.672G>A	c.(670-672)cgG>cgA	p.R224R		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	224	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCAGGTCTGTCCGGGCAATGA	0.512000													42	120					0	0	0.008740	0	0
GIP	2695	broad.mit.edu	37	17	47039091	47039091	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:47039091C>A	ENST00000357424.2	-	4	448	c.348G>T	c.(346-348)caG>caT	p.Q116H		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	116					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						TGACTCACCTCTGTGGCTCCA	0.627000													13	5					1.3612e-06	1.48375e-06	0.003163	1	0
SCNN1A	6337	broad.mit.edu	37	12	6458367	6458367	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6458367G>C	ENST00000358945.3	-	10	1966	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C	SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.S487C|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S546C|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S510C|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S187C			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	487					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTAACCAGCAGAGAGCTGGTA	0.572000													19	133					0	0	0.006122	0	0
ETHE1	23474	broad.mit.edu	37	19	44030385	44030385	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:44030385C>G	ENST00000600651.1	-	3	366	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	ZNF575_ENST00000458714.2_5'UTR|ETHE1_ENST00000292147.2_Missense_Mutation_p.E115Q			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	115						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TCTCCATCCTCAATGTGTAAG	0.612000													28	31					0	0	0.008361	0	0
MYH11	4629	broad.mit.edu	37	16	15813102	15813102	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:15813102C>G	ENST00000452625.2	-	37	5254	c.5167G>C	c.(5167-5169)Gag>Cag	p.E1723Q	MYH11_ENST00000576790.2_Missense_Mutation_p.E1716Q|MYH11_ENST00000300036.5_Missense_Mutation_p.E1716Q|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1723Q	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1716					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCCAGCTCCTCTGCCAGT	0.612000			T	CBFB	AML								15	22					0	0	0.004990	0	0
HSPB3	8988	broad.mit.edu	37	5	53751951	53751951	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:53751951C>G	ENST00000302005.1	+	1	507	c.332C>G	c.(331-333)tCa>tGa	p.S111*		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	111					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GGTTTTATCTCAAGAAGCTTC	0.458000													18	47					0	0	0.006122	0	0
GLMN	11146	broad.mit.edu	37	1	92737113	92737113	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:92737113C>G	ENST00000370360.3	-	8	913	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	GLMN_ENST00000534881.1_Missense_Mutation_p.E278Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	278	Poly-Glu.				muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGTTTATTTTCTTCTTCTTCA	0.358000									Multiple Glomus Tumors (of the Skin), Familial				24	84					0	0	0.014323	0	0
CDK7	1022	broad.mit.edu	37	5	68550438	68550438	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:68550438G>C	ENST00000256443.3	+	4	273	c.170G>C	c.(169-171)aGa>aCa	p.R57T	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.R57T|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	57	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GGTATAAATAGAACCGCCTTA	0.318000								Nucleotide excision repair (NER)					8	32					0	0	0.004482	0	0
BAAT	570	broad.mit.edu	37	9	104133647	104133647	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:104133647C>G	ENST00000259407.2	-	2	148	c.40G>C	c.(40-42)Gat>Cat	p.D14H	BAAT_ENST00000395051.3_Missense_Mutation_p.D14H	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	14					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACTGGCTCATCAACAAGTGCA	0.443000													20	28					0	0	0.012319	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476049	7476049	+	RNA	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:7476049G>C	ENST00000579777.1	+	0	1960					NR_037926.1																						CCGAGTTGCTGAGCGCCGGCA	0.652000													17	6					0	0	0.006122	0	0
CTCF	10664	broad.mit.edu	37	16	67670708	67670708	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:67670708G>C	ENST00000264010.4	+	11	2397	c.1953G>C	c.(1951-1953)cgG>cgC	p.R651R	CTCF_ENST00000401394.1_Silent_p.R323R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	651					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)		CCAAGAAGCGGAGAGGACGAC	0.597000													45	504					0	0	0.014410	0	0
TICRR	90381	broad.mit.edu	37	15	90164630	90164630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:90164630G>A	ENST00000268138.7	+	19	3266	c.3161G>A	c.(3160-3162)aGa>aAa	p.R1054K	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.R1053K					TOPBP1-interacting checkpoint and replication regulator																		GCAGACCAAAGAGAAAATTCT	0.433000													12	34					0	0	0.001855	0	0
FOXP1	27086	broad.mit.edu	37	3	71102859	71102859	+	Silent	SNP	G	G	T	rs143948907		TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:71102859G>T	ENST00000318789.4	-	8	873	c.348C>A	c.(346-348)ctC>ctA	p.L116L	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Silent_p.L116L|FOXP1_ENST00000498215.1_Silent_p.L116L|FOXP1_ENST00000468577.1_Silent_p.L116L|FOXP1_ENST00000475937.1_Silent_p.L116L|FOXP1_ENST00000491238.1_Silent_p.L118L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	116	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTGTTGCTGGAGGATCTGCT	0.522000			T	PAX5	ALL								5	26					0.000602214	0.000644444	0.000602	1	0
TOR3A	64222	broad.mit.edu	37	1	179054980	179054980	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:179054980C>G	ENST00000367627.3	+	3	1343	c.591C>G	c.(589-591)ttC>ttG	p.F197L	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.F197L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	197					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGGATGTTCATCGCCACGT	0.592000													10	40					0	0	0.008291	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266367	219266367	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:219266367G>A	ENST00000273062.2	+	2	484	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CTDSP1_ENST00000443891.1_Missense_Mutation_p.D50N|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	50					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCCGGGATGATGGGGAGGC	0.662000													9	19					0	0	0.004482	0	0
FGF10	2255	broad.mit.edu	37	5	44388753	44388753	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:44388753G>C	ENST00000264664.4	-	1	146	c.32C>G	c.(31-33)tCa>tGa	p.S11*		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	11					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	p.S11L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GGGAAAGGCTGAGGCACAATG	0.522000													14	30					0	0	0.004007	0	0
DICER1	23405	broad.mit.edu	37	14	95579508	95579508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr14:95579508C>T	ENST00000526495.1	-	14	2252	c.1961G>A	c.(1960-1962)aGa>aAa	p.R654K	DICER1_ENST00000393063.1_Missense_Mutation_p.R654K|DICER1_ENST00000541352.1_Missense_Mutation_p.R654K|DICER1_ENST00000527414.1_Missense_Mutation_p.R654K|DICER1_ENST00000343455.3_Missense_Mutation_p.R654K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	654	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCTCGGGTTCTGCATTTAGG	0.383000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				30	30					0	0	0.009535	0	0
SUPT20H	55578	broad.mit.edu	37	13	37603968	37603968	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:37603968C>G	ENST00000360252.4	-	13	1177	c.930G>C	c.(928-930)gaG>gaC	p.E310D	SUPT20H_ENST00000475892.1_Missense_Mutation_p.E309D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E310D|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E309D|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E310D	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TAGCATATTTCTCCACCTAAA	0.343000													16	35					0	0	0.004990	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745899	10745899	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10745899C>T	ENST00000586078.1	+	13	1225	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C	SLC44A2_ENST00000407327.4_Silent_p.C370C|SLC44A2_ENST00000335757.5_Silent_p.C372C	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	372					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTGCTGTGCCTCTGCATCG	0.557000													62	46					0	0	0.014410	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:37780794G>C	ENST00000447769.1	+	4	1088	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.E267Q			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000													17	73					0	0	0.004007	0	0
NLRC4	58484	broad.mit.edu	37	2	32475889	32475889	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:32475889C>G	ENST00000404025.2	-	5	1532	c.1044G>C	c.(1042-1044)caG>caC	p.Q348H	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q348H|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q348H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	348	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTCACCCATCTGGATTGCAC	0.438000													6	22					0	0	0.001984	0	0
NPM1	4869	broad.mit.edu	37	5	170814952	170814952	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr5:170814952G>A	ENST00000296930.5	+	0	301				NPM1_ENST00000393820.2_De_novo_Start_InFrame|NPM1_ENST00000517671.1_De_novo_Start_InFrame|NPM1_ENST00000351986.6_De_novo_Start_InFrame	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGCCACCCGATGGAAGATT	0.602000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								15	13					0	0	0.004990	0	0
CARD18	59082	broad.mit.edu	37	11	105009569	105009569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:105009569G>A	ENST00000530950.1	-	2	243	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	CARD18_ENST00000526823.1_Nonsense_Mutation_p.Q43*|CARD18_ENST00000532895.1_Nonsense_Mutation_p.Q43*	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	82	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						GAGGCAAGTTGAGGGTCTTCT	0.413000													31	83					0	0	0.009535	0	0
DCAF12	25853	broad.mit.edu	37	9	34126369	34126369	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:34126369C>T	ENST00000361264.4	-	1	402	c.61G>A	c.(61-63)Gac>Aac	p.D21N		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	21						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCCTGAGCGTCGCTCCCAGCT	0.692000													5	17					0	0	0.001984	0	0
SH3D19	152503	broad.mit.edu	37	4	152095862	152095862	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:152095862C>T	ENST00000409598.4	-	7	1821	c.654G>A	c.(652-654)ggG>ggA	p.G218G	SH3D19_ENST00000424281.1_Silent_p.G218G|SH3D19_ENST00000409252.2_Silent_p.G218G|SH3D19_ENST00000427414.2_Silent_p.G218G|SH3D19_ENST00000455740.1_Silent_p.G218G|SH3D19_ENST00000304527.4_Silent_p.G218G|SH3D19_ENST00000514152.1_Silent_p.G218G			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	218	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CAGCCAGGTTCCCCGATGGGG	0.502000													8	121					0	0	0.003080	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37105247	37105247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:37105247C>A	ENST00000421307.1	-	25	2157	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E579*|LRRFIP2_ENST00000354379.4_Nonsense_Mutation_p.E258*|LRRFIP2_ENST00000440230.1_Nonsense_Mutation_p.E282*|LRRFIP2_ENST00000421276.2_Nonsense_Mutation_p.E282*|LRRFIP2_ENST00000396428.2_Nonsense_Mutation_p.E361*	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	579					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACAGTAGTTCTTCCTTCTCT	0.274000													41	70					6.61955e-31	7.50591e-31	0.014410	1	0
CCDC121	79635	broad.mit.edu	37	2	27850058	27850058	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:27850058C>T	ENST00000324364.3	-	2	789	c.609G>A	c.(607-609)aaG>aaA	p.K203K	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Silent_p.K365K	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	203										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GTAATTCCTTCTTGAACTGCT	0.463000													46	26					0	0	0.014410	0	0
LCMT2	9836	broad.mit.edu	37	15	43620869	43620869	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:43620869G>A	ENST00000305641.5	-	1	1934	c.1819C>T	c.(1819-1821)Cat>Tat	p.H607Y	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.H186Y	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	607					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGGAGGAATGAATCCAGATC	0.468000													9	48					0	0	0.004482	0	0
SPAG17	200162	broad.mit.edu	37	1	118616569	118616569	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:118616569C>G	ENST00000336338.5	-	17	2358	c.2293G>C	c.(2293-2295)Gaa>Caa	p.E765Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	765						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAATCTGCTTCCACCATCATC	0.383000													14	77					0	0	0.003163	0	0
DSPP	1834	broad.mit.edu	37	4	88533619	88533619	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:88533619C>G	ENST00000399271.1	+	4	401	c.281C>G	c.(280-282)tCt>tGt	p.S94C	DSPP_ENST00000282478.7_Missense_Mutation_p.S94C|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	94					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)		AAGAGTTTTTCTACATATTCC	0.453000													8	20					0	0	0.003080	0	0
BNC2	54796	broad.mit.edu	37	9	16419406	16419406	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:16419406C>T	ENST00000380672.4	-	7	2938	c.2881G>A	c.(2881-2883)Gac>Aac	p.D961N	BNC2_ENST00000545497.1_Missense_Mutation_p.D866N|BNC2_ENST00000380667.2_Missense_Mutation_p.D894N	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGCTCAAGTCAAGGACCATG	0.582000													11	39					0	0	0.008291	0	0
POT1	25913	broad.mit.edu	37	7	124493146	124493146	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr7:124493146G>C	ENST00000357628.3	-	10	1347	c.749C>G	c.(748-750)tCa>tGa	p.S250*	POT1_ENST00000393329.1_Nonsense_Mutation_p.S119*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	250					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGAATTCATTGATTGAAGTTT	0.348000													12	13					0	0	0.013537	0	0
UBAC2	337867	broad.mit.edu	37	13	100037588	100037588	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr13:100037588G>A	ENST00000376440.2	+	7	1432	c.929G>A	c.(928-930)tGa>tAa	p.*310*	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Silent_p.*345*	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0	UBA.					integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGCAGCACTGATAGTCCCAG	0.582000													10	39					0	0	0.006214	0	0
IL36B	27177	broad.mit.edu	37	2	113783794	113783794	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:113783794C>G	ENST00000259213.4	-	5	384	c.277G>C	c.(277-279)Gat>Cat	p.D93H		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	93					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						cctatgttatcttgggagccc	0.463000													7	38					0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61830564	61830564	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr10:61830564C>T	ENST00000280772.2	-	37	10266	c.10075G>A	c.(10075-10077)Gaa>Aaa	p.E3359K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTTCCAGTTCTTTCTGGTTG	0.403000													28	78					0	0	0.007291	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88207608	88207608	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr9:88207608G>C	ENST00000357081.3	-	19	2579	c.2435C>G	c.(2434-2436)tCa>tGa	p.S812*	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.S824*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.S772*|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	812				S -> P (in Ref. 3; BAB14505).	C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGAACTTCTTGAGAAATGATT	0.323000													28	87					0	0	0.007291	0	0
ZNF546	339327	broad.mit.edu	37	19	40514444	40514444	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:40514444G>C	ENST00000347077.4	+	6	582	c.366G>C	c.(364-366)atG>atC	p.M122I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.M96I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	122	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGATAGTAATGAGGGAAGGGA	0.448000													28	30					0	0	0.007291	0	0
STC1	6781	broad.mit.edu	37	8	23709009	23709009	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:23709009G>A	ENST00000290271.2	-	3	580	c.297C>T	c.(295-297)atC>atT	p.I99I	STC1_ENST00000524323.1_Silent_p.I30I	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	99					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCCCGTTGGCGATGCATTTTA	0.512000													24	13					0	0	0.014323	0	0
TIAM2	26230	broad.mit.edu	37	6	155485633	155485633	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:155485633G>C	ENST00000461783.3	+	10	3386	c.2113G>C	c.(2113-2115)Gag>Cag	p.E705Q	TIAM2_ENST00000367174.2_Missense_Mutation_p.E57Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.E705Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.E705Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.E705Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.E17Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.E17Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.E705Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	705					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACAAGGTGGGGAGTTACCGAA	0.537000													31	68					0	0	0.007291	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452219	26452219	+	Silent	SNP	C	C	T	rs143460142	byFrequency	TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:26452219C>T	ENST00000244519.2	+	11	1578	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	BTN3A3_ENST00000361232.3_Silent_p.L396L|BTN3A3_ENST00000339789.4_Silent_p.L403L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	445	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCGGGCTCTCACTGAGCCCA	0.493000													28	42					0	0	0.005443	0	0
LIMK2	3985	broad.mit.edu	37	22	31674314	31674314	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr22:31674314G>A	ENST00000331728.4	+	16	1918	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	LIMK2_ENST00000444929.2_Missense_Mutation_p.E356K|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.E581K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	602	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGACTCCTTTGAGGCCCTCTC	0.582000													174	157					0	0	0.014410	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652549	84652549	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:84652549G>T	ENST00000393868.2	-	8	1214	c.1004C>A	c.(1003-1005)aCg>aAg	p.T335K	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	335					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTTGTAGATCGTGGTTCCCAG	0.522000													18	48					9.16793e-09	1.00909e-08	0.004990	1	0
SCN9A	6335	broad.mit.edu	37	2	167129293	167129293	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:167129293C>G	ENST00000303354.6	-	17	3310	c.2970G>C	c.(2968-2970)caG>caC	p.Q990H	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q989H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q978H|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q990H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	989						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCACTGCAATCTGGAGGTTGT	0.348000													9	11					0	0	0.010729	0	0
TCHH	7062	broad.mit.edu	37	1	152082231	152082231	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:152082231C>T	ENST00000368804.1	-	2	3461	c.3462G>A	c.(3460-3462)ctG>ctA	p.L1154L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1154	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCTCTCAGCAGctgct	0.602000													18	110					0	0	0.006122	0	0
TANGO6	79613	broad.mit.edu	37	16	68943159	68943159	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:68943159G>A	ENST00000261778.1	+	11	1858	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GTTAAAAACTGAGCCCTTCTC	0.473000													7	43					0	0	0.006214	0	0
AXDND1	126859	broad.mit.edu	37	1	179337977	179337977	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:179337977C>T	ENST00000367618.3	+	3	527	c.140C>T	c.(139-141)tCa>tTa	p.S47L	AXDND1_ENST00000457238.2_Missense_Mutation_p.S47L|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	47										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTGGATCGTTCAAAACTCCTT	0.373000													13	40					0	0	0.002450	0	0
TBC1D28	254272	broad.mit.edu	37	17	18544596	18544596	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr17:18544596C>T	ENST00000345096.4	-	3	769	c.70G>A	c.(70-72)Gag>Aag	p.E24K	TBC1D28_ENST00000405044.1_Missense_Mutation_p.E24K			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	24						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TGTACCTGCTCATACTTAGTA	0.577000													13	8					0	0	0.002450	0	0
PHF8	23133	broad.mit.edu	37	X	54037673	54037673	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:54037673C>G	ENST00000338154.6	-	8	1332	c.828G>C	c.(826-828)ctG>ctC	p.L276L	PHF8_ENST00000338946.6_Silent_p.L276L|PHF8_ENST00000322659.8_Silent_p.L276L|PHF8_ENST00000357988.5_Silent_p.L312L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	312	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAAAGAGAGTCAGATTGGCAT	0.448000													8	37					0	0	0.003080	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727948	20727948	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:20727948G>A	ENST00000427401.4	-	4	1155	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	354					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTAAGGGATGAGAAGTACTT	0.413000													11	25					0	0	0.008291	0	0
OTOGL	283310	broad.mit.edu	37	12	80658968	80658968	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:80658968C>T	ENST00000458043.2	+	19	2181	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	OTOGL_ENST00000547103.1_Silent_p.F725F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATTGATTTCAGAACTCAGA	0.453000													17	24					0	0	0.004990	0	0
RALY	22913	broad.mit.edu	37	20	32660068	32660068	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:32660068C>G	ENST00000375114.3	+	3	766	c.188C>G	c.(187-189)tCc>tGc	p.S63C	RALY_ENST00000246194.3_Missense_Mutation_p.S63C|RALY_ENST00000493399.1_Intron	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	63	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTTCAGTACTCCAATGAGCGC	0.552000													17	106					0	0	0.004990	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396789	43396789	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:43396789G>A	ENST00000426263.3	-	3	381	c.203C>T	c.(202-204)tCa>tTa	p.S68L	SLC2A1_ENST00000415851.2_Missense_Mutation_p.S68L|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S68L	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	68					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGGCCACTGAGAGGGACCA	0.592000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0.004482	0	0
PC	5091	broad.mit.edu	37	11	66638949	66638949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:66638949C>G	ENST00000393960.1	-	6	605	c.324G>C	c.(322-324)gaG>gaC	p.E108D	PC_ENST00000524491.1_Missense_Mutation_p.E68D|PC_ENST00000393955.2_Missense_Mutation_p.E108D|PC_ENST00000355677.3_Missense_Mutation_p.E108D|PC_ENST00000393958.2_Missense_Mutation_p.E108D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	108	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTACGTTGTTCTCCTGCAGGT	0.622000													27	47					0	0	0.005443	0	0
PRKD2	25865	broad.mit.edu	37	19	47181744	47181744	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:47181744G>A	ENST00000433867.1	-	17	2724	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PRKD2_ENST00000600194.1_Silent_p.F592F|PRKD2_ENST00000601806.1_Silent_p.F592F|PRKD2_ENST00000595515.1_Silent_p.F749F|PRKD2_ENST00000291281.4_Silent_p.F749F	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	749	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTTGAAAGGGAAGGTGCCGC	0.612000													14	34					0	0	0.002450	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784804	68784804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:68784804G>A	ENST00000508048.1	-	8	871	c.836C>T	c.(835-837)tCc>tTc	p.S279F	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.S283F|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.S280F			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	283	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTGACTCTGGAAGAGACCTG	0.448000													9	61					0	0	0.004482	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554087	64554087	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:64554087C>T	ENST00000498707.1	-	29	4823	c.4481G>A	c.(4480-4482)cGa>cAa	p.R1494Q	ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1466Q|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1494	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCTTCCTCCTCGGCACTTTCT	0.493000													13	26					0	0	0.013537	0	0
STAT1	6772	broad.mit.edu	37	2	191844502	191844502	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:191844502C>T	ENST00000361099.3	-	20	2110	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	STAT1_ENST00000392323.2_Missense_Mutation_p.D577N|STAT1_ENST00000409465.1_Missense_Mutation_p.D575N|STAT1_ENST00000392322.3_Missense_Mutation_p.D575N|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	575	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CCTTACCCATCATTCCAGAGA	0.398000													4	43					0	0	0.000602	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273275	26273275	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:26273275G>A	ENST00000377733.2	+	1	132	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	24					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGGCACAGAAGAAGGATGGCA	0.582000													28	208					0	0	0.004656	0	0
SPG11	80208	broad.mit.edu	37	15	44955822	44955822	+	Silent	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr15:44955822C>G	ENST00000261866.7	-	1	40	c.24G>C	c.(22-24)gcG>gcC	p.A8A	SPG11_ENST00000559193.1_Silent_p.A8A|SPG11_ENST00000558319.1_Silent_p.A8A|SPG11_ENST00000427534.2_Silent_p.A8A|SPG11_ENST00000535302.2_Silent_p.A8A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGCAGCACTCGCGACCCCTT	0.692000													4	4					0	0	0.009096	0	0
NRD1	4898	broad.mit.edu	37	1	52303199	52303199	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:52303199C>T	ENST00000354831.7	-	3	913	c.724G>A	c.(724-726)Gag>Aag	p.E242K	NRD1_ENST00000539524.1_Missense_Mutation_p.E110K|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000485608.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	195					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTTCTTGTCTCGACCAGCAGG	0.403000													38	55					0	0	0.006999	0	0
TIAM1	7074	broad.mit.edu	37	21	32624420	32624420	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr21:32624420G>C	ENST00000286827.3	-	6	1520	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	TIAM1_ENST00000541036.1_Missense_Mutation_p.S350C|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	350					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGTGGCATTAGATCGCCTGGA	0.622000													42	225					0	0	0.009718	0	0
LMBR1L	55716	broad.mit.edu	37	12	49496679	49496679	+	Silent	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:49496679G>C	ENST00000267102.8	-	8	1029	c.687C>G	c.(685-687)gtC>gtG	p.V229V	LMBR1L_ENST00000395141.4_Silent_p.V224V|LMBR1L_ENST00000547382.1_Silent_p.V229V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	229					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGGGGCTTGACTAGCAGCT	0.542000													19	37					0	0	0.008871	0	0
ZNF728	388523	broad.mit.edu	37	19	23159676	23159676	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:23159676G>C	ENST00000594710.1	-	4	608	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GAACATTTATGAAAGATGTTT	0.313000													19	18					0	0	0.006122	0	0
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612000													6	48					0	0	0.001168	0	0
RPL7	6129	broad.mit.edu	37	8	74204562	74204562	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr8:74204562C>T	ENST00000396467.1	-	3	220	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	RPL7_ENST00000396465.1_Missense_Mutation_p.E28K|RPL7_ENST00000352983.2_Missense_Mutation_p.E68K|RPL7_ENST00000396466.1_Missense_Mutation_p.E28K	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	68	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ATTCGAATTTCAGTTCTGTAC	0.408000													12	46					0	0	0.013537	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150860	173150860	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr4:173150860G>C	ENST00000506823.1	+	3	849	c.192G>C	c.(190-192)ttG>ttC	p.L64F	GALNTL6_ENST00000508122.1_Missense_Mutation_p.L47F	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	64						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAGATGGTTTGAGAAGAAAGG	0.443000													13	4					0	0	0.002450	0	0
MOCS1	4337	broad.mit.edu	37	6	39874456	39874456	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:39874456C>G	ENST00000308559.7	-	10	1673	c.1540G>C	c.(1540-1542)Gga>Cga	p.G514R	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.G530R|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.G530R|MOCS1_ENST00000373195.3_Missense_Mutation_p.G427R|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	530	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGGCATCTCCTTTCTTGAGC	0.632000													37	37					0	0	0.003755	0	0
SPATA2	9825	broad.mit.edu	37	20	48523170	48523170	+	Silent	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr20:48523170C>T	ENST00000422556.1	-	3	898	c.549G>A	c.(547-549)gtG>gtA	p.V183V	SPATA2_ENST00000543716.1_Silent_p.V46V|SPATA2_ENST00000289431.5_Silent_p.V183V	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	183					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCTTGTCCTTCACTTGTGAGT	0.592000													16	10					0	0	0.003163	0	0
POC1A	25886	broad.mit.edu	37	3	52109989	52109989	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:52109989G>C	ENST00000394970.2	-	10	1311	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V	POC1A_ENST00000474012.1_Missense_Mutation_p.L342V|POC1A_ENST00000296484.2_Missense_Mutation_p.L380V	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	380						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CGCTGCTCCAGAATGGAGACT	0.557000													40	56					0	0	0.006230	0	0
OR4D9	390199	broad.mit.edu	37	11	59283031	59283031	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:59283031A>G	ENST00000329328.3	+	1	646	c.646A>G	c.(646-648)Ata>Gta	p.I216V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTTCTCCTCATATCTTACAC	0.498000													33	86					0	0	0.012213	0	0
CORO7	79585	broad.mit.edu	37	16	4408479	4408479	+	Silent	SNP	G	G	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:4408479G>A	ENST00000251166.4	-	24	2491	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L	CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.L764L|CORO7_ENST00000539968.1_Silent_p.L562L|CORO7-PAM16_ENST00000572467.1_Silent_p.L782L|CORO7_ENST00000574025.1_Silent_p.L697L	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCAGGAGGACGAGGCCCTGGG	0.682000													12	25					0	0	0.013537	0	0
CHDC2	286464	broad.mit.edu	37	X	36089992	36089992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chrX:36089992C>T	ENST00000313548.4	+	3	280	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		GCCTCCCTACCAGGATGCTAA	0.378000													6	32					0	0	0.001984	0	0
ERCC3	2071	broad.mit.edu	37	2	128044548	128044548	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:128044548C>A	ENST00000493187.2	-	8	1344	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ERCC3_ENST00000285398.2_Missense_Mutation_p.R358I			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	358					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACAGCGTTTTCTGACAGTGCA	0.532000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	32					1.76689e-08	1.94186e-08	0.006214	1	0
CROCC	9696	broad.mit.edu	37	1	17281290	17281291	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:17281290_17281291insT	ENST00000375541.5	+	23	3452_3453	c.3383_3384insT	c.(3382-3387)gctgcgfs	p.A1129fs		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1129					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGAGGCTGCTGCGGCCCACG	0.688													3	4	---	---	---	---					
CCDC17	149483	broad.mit.edu	37	1	46086643	46086649	+	Frame_Shift_Del	DEL	GCCAGCG	GCCAGCG	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr1:46086643_46086649delGCCAGCG	ENST00000421127.2	-	11	1641_1647	c.1498_1504delCGCTGGC	c.(1498-1506)cgctggcgcfs	p.RWR500fs	CCDC17_ENST00000528266.1_Frame_Shift_Del_p.RWR509fs|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.RWR477fs|CCDC17_ENST00000445048.2_Intron	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	509										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					AGTGGGAGGCGCCAGCGGCCACTTAGC	0.614													9	11	---	---	---	---					
CTNNA2	1496	broad.mit.edu	37	2	80540733	80540733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:80540733delA	ENST00000343114.3	+	1	230	c.47delA	c.(46-48)gaafs	p.E16fs	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_001282599.1|NM_001282600.1	NP_001269528.1|NP_001269529.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					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						aaagtctgtgaaaaaaatatg	0.443													7	7	---	---	---	---					
ITGA4	3676	broad.mit.edu	37	2	182374526	182374526	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr2:182374526delA	ENST00000397033.2	+	16	2267	c.1837delA	c.(1837-1839)aaafs	p.K614fs		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	614					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGACATAATGAAAAAAACAGT	0.328													23	30	---	---	---	---					
MINA	84864	broad.mit.edu	37	3	97668807	97668808	+	In_Frame_Ins	INS	-	-	TCC			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr3:97668807_97668808insTCC	ENST00000333396.7	-	7	1522_1523	c.940_941insGGA	c.(940-942)aca>aGGAca	p.313_314insR	MINA_ENST00000360258.4_In_Frame_Ins_p.312_313insR|MINA_ENST00000394198.2_In_Frame_Ins_p.313_314insR	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GTCTGCAAGTGTCCTCAGGAAG	0.515													31	59	---	---	---	---					
HIST1H2AH	85235	broad.mit.edu	37	6	27114978	27114981	+	Frame_Shift_Del	DEL	TTCA	TTCA	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:27114978_27114981delTTCA	ENST00000377459.1	+	1	118_121	c.71_74delTTCA	c.(70-75)cttcagfs	p.LQ24fs		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	24					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q25fs*10(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CGGGCTGGGCTTCAGTTCCCCGTG	0.623													29	45	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32053661	32053663	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:32053661_32053663delTCA	ENST00000375244.3	-	7	3213_3215	c.3012_3014delTGA	c.(3010-3015)catgag>cag	p.1004_1005HE>Q	TNXB_ENST00000375247.2_In_Frame_Del_p.1004_1005HE>Q			P22105	TENX_HUMAN	tenascin XB	1091	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGCACTTCCTCATGTGCCCCCG	0.670													15	50	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651995	36651995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr6:36651995delG	ENST00000405375.1	+	2	352	c.117delG	c.(115-117)gcgfs	p.A39fs	CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.A39fs|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.A73fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.A39fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	39					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CGCTAATGGCGGGCTGCATCC	0.662													37	15	---	---	---	---					
ALX4	60529	broad.mit.edu	37	11	44331588	44331588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:44331588delA	ENST00000329255.3	-	1	128	c.25delT	c.(25-27)tacfs	p.Y9fs		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	9					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GACTCGCAGTAAGAGACGCAA	0.682													2	4	---	---	---	---					
RTN4RL2	349667	broad.mit.edu	37	11	57243952	57243953	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:57243952_57243953delGC	ENST00000335099.3	+	3	1148_1149	c.831_832delGC	c.(829-834)cagcgcfs	p.R278fs		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	278	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCTGGTTCCAGCGCGCGCGCGT	0.762													2	4	---	---	---	---					
PPP2R1B	5519	broad.mit.edu	37	11	111626023	111626024	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr11:111626023_111626024insA	ENST00000527614.1	-	6	903_904	c.838_839insT	c.(838-840)tcafs	p.S280fs	PPP2R1B_ENST00000427203.2_Frame_Shift_Ins_p.S119fs|PPP2R1B_ENST00000341980.6_Frame_Shift_Ins_p.S280fs|PPP2R1B_ENST00000393055.2_Frame_Shift_Ins_p.S153fs|PPP2R1B_ENST00000426998.2_Frame_Shift_Ins_p.S216fs|PPP2R1B_ENST00000311129.5_Frame_Shift_Ins_p.S280fs	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	280							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTTTACCTCTGAAAATCTGTCA	0.386													16	48	---	---	---	---					
PLEKHG6	55200	broad.mit.edu	37	12	6436467	6436468	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:6436467_6436468delAC	ENST00000449001.2	+	14	2116_2117	c.1622_1623delAC	c.(1621-1623)gacfs	p.D541fs	PLEKHG6_ENST00000396988.3_Frame_Shift_Del_p.D573fs|PLEKHG6_ENST00000011684.7_Frame_Shift_Del_p.D573fs|PLEKHG6_ENST00000304581.8_Frame_Shift_Del_p.D103fs	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	573					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GTGACAGAAGACACAGATGAAG	0.564											OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	112	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39705303	39705303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:39705303delG	ENST00000395670.3	-	31	4434	c.4015delC	c.(4015-4017)cagfs	p.Q1339fs	KIF21A_ENST00000544797.2_Frame_Shift_Del_p.Q1301fs|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.Q1338fs|KIF21A_ENST00000541463.2_Frame_Shift_Del_p.Q1285fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.Q1325fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1338					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGAATACACTGAAGTGGAAAA	0.418													25	56	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122864940	122864940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr12:122864940delG	ENST00000358808.2	-	2	214	c.60delC	c.(58-60)agcfs	p.S20fs	CLIP1_ENST00000540338.1_Frame_Shift_Del_p.S20fs|CLIP1_ENST00000302528.7_Frame_Shift_Del_p.S20fs|CLIP1_ENST00000361654.4_Frame_Shift_Del_p.S20fs|CLIP1_ENST00000537178.1_Frame_Shift_Del_p.S20fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	20					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAGAGCTGTGCTTCCAGGCT	0.413													9	52	---	---	---	---					
ZC3H7A	29066	broad.mit.edu	37	16	11873143	11873143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:11873143delG	ENST00000396516.2	-	3	382	c.185delC	c.(184-186)tcgfs	p.S62fs	ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.S62fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	62						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTGGCTTATCGAGTTGTTCCA	0.323													28	116	---	---	---	---					
PRR14	78994	broad.mit.edu	37	16	30667399	30667399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:30667399delC	ENST00000542965.2	+	11	1981	c.1525delC	c.(1525-1527)ctgfs	p.L509fs	PRR14_ENST00000300835.4_Frame_Shift_Del_p.L509fs			Q9BWN1	PRR14_HUMAN	proline rich 14	509										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAATGGGACTCTGATTTTCAC	0.592													25	64	---	---	---	---					
TAT	6898	broad.mit.edu	37	16	71606181	71606182	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr16:71606181_71606182insT	ENST00000355962.4	-	6	746_747	c.613_614insA	c.(613-615)attfs	p.I205fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	205					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CTTTTCATCAATTAGATATTCC	0.416													11	227	---	---	---	---					
PIAS4	51588	broad.mit.edu	37	19	4037775	4037777	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:4037775_4037777delGAG	ENST00000262971.2	+	11	1550_1552	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	487	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.700													3	6	---	---	---	---					
SLC44A2	57153	broad.mit.edu	37	19	10748914	10748916	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:10748914_10748916delTTC	ENST00000586078.1	+	20	1961_1963	c.1852_1854delTTC	c.(1852-1854)ttcdel	p.F621del	SLC44A2_ENST00000335757.5_In_Frame_Del_p.F621del|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_In_Frame_Del_p.F619del	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	621					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GATCCTGGCTTTCTTCTTCTTCA	0.493													18	122	---	---	---	---					
MYADM	91663	broad.mit.edu	37	19	54377206	54377208	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FD-A6TC-01A-21D-A339-08	TCGA-FD-A6TC-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ef3df1c-9999-4d1e-a9f1-4306970996c7	7ff50417-9a80-423a-a406-cc0eafcfc1be	g.chr19:54377206_54377208delCTT	ENST00000391769.2	+	3	703_705	c.423_425delCTT	c.(421-426)accttc>acc	p.F143del	MYADM_ENST00000391771.1_In_Frame_Del_p.F143del|MYADM_ENST00000391770.4_In_Frame_Del_p.F143del|MYADM_ENST00000391768.2_In_Frame_Del_p.F143del|MYADM_ENST00000336967.3_In_Frame_Del_p.F143del	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	143	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCGCCGCCACCTTCTTCTCCTGC	0.665													17	82	---	---	---	---