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
KCNRG	283518	broad.mit.edu	37	13	50589843	50589843	+	Silent	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:50589843T>C	ENST00000360473.4	+	1	454	c.214T>C	c.(214-216)Tta>Cta	p.L72L	KCNRG_ENST00000312942.1_Silent_p.L72L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000378182.3_3'UTR	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	72	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCAGCTTTTATTACCCACTGA	0.388000													43	191					0	0	0.104719	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626753	140626753	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140626753G>A	ENST00000231173.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTTCCCG	0.662000													28	40					0	0	0.144211	0	0
CCDC73	493860	broad.mit.edu	37	11	32635665	32635665	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:32635665C>T	ENST00000335185.5	-	16	2242	c.2199G>A	c.(2197-2199)atG>atA	p.M733I		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	733										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCAACATAGACATACTATGGA	0.348000													15	137					0	0	0.132662	0	0
MBD5	55777	broad.mit.edu	37	2	149226685	149226685	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:149226685G>C	ENST00000407073.1	+	9	2170	c.1173G>C	c.(1171-1173)atG>atC	p.M391I	MBD5_ENST00000404807.1_Missense_Mutation_p.M391I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	391	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.M391I(1)		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)		AGGTACCTATGATGAATGTAA	0.418000													56	406					0	0	0.139131	0	0
CDH7	1005	broad.mit.edu	37	18	63548075	63548075	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:63548075G>C	ENST00000397968.2	+	12	2729	c.2303G>C	c.(2302-2304)cGc>cCc	p.R768P	CDH7_ENST00000323011.3_Missense_Mutation_p.R768P	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	768					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)				TGGGGACCTCGCTTTAAACGA	0.433000													5	122					0	0	0.021553	0	0
MAP3K13	9175	broad.mit.edu	37	3	185155367	185155367	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:185155367C>T	ENST00000265026.3	+	3	942	c.608C>T	c.(607-609)aCg>aTg	p.T203M	MAP3K13_ENST00000535426.1_Missense_Mutation_p.T59M|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T59M|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T203M	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	203	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGAATGAGACGGATATCAAG	0.478000													7	554					0	0	0.038147	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913137	143913137	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:143913137G>C	ENST00000409869.1	+	3	255	c.78G>C	c.(76-78)atG>atC	p.M26I	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.M26I			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	26					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTGTGCAAATGAGAATCAAAA	0.433000													14	71					0	0	0.119110	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360522	71360522	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:71360522G>C	ENST00000244230.2	+	2	936	c.584G>C	c.(583-585)aGa>aCa	p.R195T	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.R195T	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	195					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAAACCAAGAGAAAAGTCC	0.373000													18	101					0	0	0.049695	0	0
SMC1B	27127	broad.mit.edu	37	22	45748426	45748426	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:45748426G>C	ENST00000357450.4	-	22	3329	c.3330C>G	c.(3328-3330)aaC>aaG	p.N1110K	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1110					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGCCACACAGTTATAGCTAA	0.458000													12	41					0	0	0.105934	0	0
TTC5	91875	broad.mit.edu	37	14	20767521	20767521	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:20767521G>A	ENST00000258821.3	-	4	539	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	161					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CACTGTCCATGACATGGTGAG	0.493000													32	172					0	0	0.074837	0	0
MGP	4256	broad.mit.edu	37	12	15035930	15035930	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:15035930C>G	ENST00000539261.1	-	3	280	c.146G>C	c.(145-147)aGa>aCa	p.R49T	MGP_ENST00000228938.5_Missense_Mutation_p.R74T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	49					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						AGCTCTCCATCTCTGCTGAGG	0.403000													48	269					0	0	0.139131	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301229	125301229	+	Nonsense_Mutation	SNP	G	G	T	rs71474144		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:125301229G>T	ENST00000298282.9	+	13	1631	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.E390*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	454	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ggaggTCGACGAGCTGCAGAC	0.562000													31	96					1.62565e-12	1.88078e-12	0.163468	1	0
WDR49	151790	broad.mit.edu	37	3	167246931	167246931	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:167246931C>G	ENST00000308378.3	-	10	1564	c.1259G>C	c.(1258-1260)gGa>gCa	p.G420A	WDR49_ENST00000453925.2_Missense_Mutation_p.G484A|WDR49_ENST00000476376.1_Missense_Mutation_p.G245A|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	420										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CGATCCAACTCCACTATGAGC	0.378000													70	415					0	0	0.139131	0	0
CDHR1	92211	broad.mit.edu	37	10	85965669	85965669	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:85965669G>A	ENST00000372117.3	+	10	1052	c.949G>A	c.(949-951)Gag>Aag	p.E317K	CDHR1_ENST00000332904.3_Missense_Mutation_p.E317K|CDHR1_ENST00000440770.2_Missense_Mutation_p.E76K	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	317	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGAGGTGTATGAGCTGCATGT	0.532000											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	0.014758	0	0
MARK3	4140	broad.mit.edu	37	14	103871486	103871486	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:103871486C>G	ENST00000429436.2	+	2	635	c.125C>G	c.(124-126)tCt>tGt	p.S42C	MARK3_ENST00000216288.7_Missense_Mutation_p.S42C|MARK3_ENST00000303622.9_Missense_Mutation_p.S42C|MARK3_ENST00000440884.3_Missense_Mutation_p.S42C|MARK3_ENST00000416682.2_Missense_Mutation_p.S42C|MARK3_ENST00000553942.1_Missense_Mutation_p.S42C|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.S42C	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	42							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGTAGAAACTCTATAGCCTCC	0.458000													30	219					0	0	0.080422	0	0
C10orf82	143379	broad.mit.edu	37	10	118424327	118424327	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:118424327C>T	ENST00000369210.3	-	4	460	c.406G>A	c.(406-408)Gac>Aac	p.D136N	C10orf82_ENST00000588184.1_Missense_Mutation_p.D136N	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	136										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TCCAGGAAGTCCTTGTAGCAG	0.562000													77	203					0	0	0.139131	0	0
DAB2	1601	broad.mit.edu	37	5	39388916	39388916	+	Silent	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:39388916A>T	ENST00000320816.6	-	8	1076	c.609T>A	c.(607-609)acT>acA	p.T203T	DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Silent_p.T203T|DAB2_ENST00000339788.6_Silent_p.T203T|DAB2_ENST00000509337.1_Silent_p.T203T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	203					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCAGTTTGTTAGTTTGGTCAT	0.343000													14	89					0	0	0.132662	0	0
A1CF	29974	broad.mit.edu	37	10	52566490	52566490	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:52566490C>T	ENST00000395489.2	-	15	2159	c.1763G>A	c.(1762-1764)tGa>tAa	p.*588*	A1CF_ENST00000373997.3_Silent_p.*587*|A1CF_ENST00000373993.1_Silent_p.*595*|A1CF_ENST00000374001.1_Silent_p.*587*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Silent_p.*595*|A1CF_ENST00000373995.3_Silent_p.*595*|A1CF_ENST00000395495.1_Silent_p.*540*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAAGCATCTTCAGAAGGTGCC	0.373000													13	104					0	0	0.105934	0	0
USP13	8975	broad.mit.edu	37	3	179459992	179459992	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:179459992G>A	ENST00000263966.3	+	12	1859	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.R398H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	463					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGAGGAACCGCATCGGCTCA	0.443000													8	248					0	0	0.047766	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203797542	203797542	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:203797542C>T	ENST00000545588.1	+	4	4117	c.290C>T	c.(289-291)cCg>cTg	p.P97L	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P97L|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P97L|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P97L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P97L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	97							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTACCTCCGAGCAAAAGT	0.363000													7	18					0	0	0.038147	0	0
OR8J1	219477	broad.mit.edu	37	11	56128652	56128652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:56128652C>A	ENST00000303039.3	+	1	962	c.930C>A	c.(928-930)tgC>tgA	p.C310*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAAATCTGTGCTATTCCTTTA	0.343000													43	92					1.8453e-21	2.26719e-21	0.117977	1	0
OR4N4	283694	broad.mit.edu	37	15	22382687	22382687	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:22382687C>T	ENST00000328795.4	+	1	306	c.215C>T	c.(214-216)tCc>tTc	p.S72F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGATGCATCCTACTCCTTC	0.483000													24	1038					0	0	0.091800	0	0
PREX2	80243	broad.mit.edu	37	8	68993022	68993022	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:68993022C>T	ENST00000288368.4	+	17	2104	c.1827C>T	c.(1825-1827)gaC>gaT	p.D609D	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	609	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						GATTAGAAGACAAAAATAAAG	0.264000													6	97					0	0	0.099896	0	0
CCL13	6357	broad.mit.edu	37	17	32685069	32685069	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:32685069G>T	ENST00000225844.2	+	3	291	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	72					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TGGGCAAGGAGATCTGTGCTG	0.507000													53	60					7.91745e-34	9.87534e-34	0.139131	1	0
SCN9A	6335	broad.mit.edu	37	2	167094772	167094772	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:167094772A>C	ENST00000375387.4	-	20	3976	c.3636T>G	c.(3634-3636)ttT>ttG	p.F1212L	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1200L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1211L|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1212L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1211						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)	AAATATCTTCAAAAGCCTGTG	0.294000													3	22					0	0	0.115264	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213349822	213349822	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:213349822G>C	ENST00000366960.3	+	8	1181	c.1031G>C	c.(1030-1032)gGg>gCg	p.G344A	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G47A|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G332A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	344	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGAGTCCTTGGGGTGATTGAC	0.453000													23	121					0	0	0.099896	0	0
CNR1	1268	broad.mit.edu	37	6	88854043	88854043	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:88854043G>T	ENST00000537554.1	-	2	4513	c.951C>A	c.(949-951)atC>atA	p.I317I	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.I317I|CNR1_ENST00000468898.1_Silent_p.I284I|CNR1_ENST00000369499.2_Silent_p.I317I|CNR1_ENST00000535130.1_Silent_p.I317I|CNR1_ENST00000549716.1_Silent_p.I256I|CNR1_ENST00000549890.1_Silent_p.I317I|CNR1_ENST00000369501.2_Silent_p.I317I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	317					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGATGATGATGCTCTTCT	0.557000													22	77					2.32416e-17	2.7958e-17	0.069288	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971145	21971145	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:21971145G>C	ENST00000579755.1	-	2	548	c.256C>G	c.(256-258)Ctg>Gtg	p.L86V	CDKN2A_ENST00000498628.2_Missense_Mutation_p.N20K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.L86V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.N20K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.N71K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.N20K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.N20K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.N20K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.L127V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N71K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N71K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N71K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	62					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.N71K(3)|p.C72fs*74(2)|p.N71fs*50(1)|p.E61_L94del(1)|p.0(1)|p.L127fs*>47(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.N71N(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTCGGCGCAGTTGGGCTCCG	0.716000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	10					0	0	0.093190	0	0
TESPA1	9840	broad.mit.edu	37	12	55368344	55368344	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:55368344C>A	ENST00000449076.1	-	2	135	c.3G>T	c.(1-3)atG>atT	p.M1I	TESPA1_ENST00000316577.8_Start_Codon_SNP_p.M1I	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	1																	CAGAGGCCTCCATGGCCCTGG	0.572000													5	9					0.000274275	0.000285703	0.047766	1	0
FAM120B	84498	broad.mit.edu	37	6	170657264	170657264	+	Silent	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:170657264A>G	ENST00000476287.1	+	5	2151	c.2043A>G	c.(2041-2043)ttA>ttG	p.L681L	FAM120B_ENST00000537664.1_Silent_p.L704L|FAM120B_ENST00000252510.9_Silent_p.L13L|FAM120B_ENST00000540480.1_Silent_p.L693L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	681					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAAAATATTATGGCTGAACC	0.418000													6	90					0	0	0.021553	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724479	140724479	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140724479T>A	ENST00000253812.6	+	1	879	c.879T>A	c.(877-879)caT>caA	p.H293Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTTTCCATCTTAACTCAG	0.408000													6	59					0	0	0.021553	0	0
SLC22A10	387775	broad.mit.edu	37	11	63058004	63058004	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:63058004G>A	ENST00000332793.6	+	1	369	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.D71N|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	123						integral to membrane	transmembrane transporter activity	p.D123N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGGGTATATGATCAAAGCTA	0.468000													63	133					0	0	0.139131	0	0
MET	4233	broad.mit.edu	37	7	116339633	116339633	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:116339633G>A	ENST00000397752.3	+	2	695	c.495G>A	c.(493-495)caG>caA	p.Q165Q	MET_ENST00000318493.6_Silent_p.Q165Q|MET_ENST00000436117.2_Silent_p.Q165Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	165	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTCCCCACAGATAGAAGAGC	0.532000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				75	216					0	0	0.139131	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649564	20649564	+	RNA	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:20649564C>G	ENST00000428453.1	-	0	2634																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAATTTCCTTCTTTCCCCATC	0.587000													6	354					0	0	0.058154	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604519	13604519	+	Silent	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:13604519T>A	ENST00000040738.5	-	10	4140	c.4005A>T	c.(4003-4005)tcA>tcT	p.S1335S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1335							DNA binding										TAAGGACTTCTGATTCCCTAA	0.463000													33	71					0	0	0.069456	0	0
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:248637569G>A	ENST00000359594.2	+	1	943	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	306				L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478000													50	678					0	0	0.139131	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96652661	96652661	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:96652661C>T	ENST00000456556.1	-	3	408	c.324G>A	c.(322-324)ctG>ctA	p.L108L						ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CCTCCTGCCTCAGTTGTACAG	0.423000													5	26					0	0	0.029380	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748380	30748380	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:30748380G>A	ENST00000263056.1	+	8	1919	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	MAP3K8_ENST00000375321.1_Missense_Mutation_p.R408H|MAP3K8_ENST00000542547.1_Missense_Mutation_p.R408H	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	408			CQSLDSALLERKRLLSRK -> GHQVIHEGSSTNDPNNSC (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTCTTGGAGCGCAAGAGGCTG	0.572000													4	65					0	0	0.150653	0	0
WDR36	134430	broad.mit.edu	37	5	110448812	110448812	+	Missense_Mutation	SNP	A	A	G	rs78831832		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:110448812A>G	ENST00000506538.2	+	16	2497	c.1924A>G	c.(1924-1926)Atg>Gtg	p.M642V	WDR36_ENST00000513710.2_Missense_Mutation_p.M642V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	642					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AAGTGCTGCGATGGATTGCTC	0.269000													18	54					0	0	0.069288	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950998	55950998	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:55950998G>A	ENST00000577830.1	-	4	958	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CUEDC1_ENST00000360238.2_Missense_Mutation_p.P182L|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P45L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P182L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	182										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AAAGTCATCCGGAAGGTTGCC	0.617000													40	93					0	0	0.111260	0	0
CHML	1122	broad.mit.edu	37	1	241797664	241797664	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:241797664C>G	ENST00000366553.1	-	1	1568	c.1405G>C	c.(1405-1407)Gat>Cat	p.D469H	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	469					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGATCTAAATCTGTCTTTAGT	0.428000													3	128					0	0	0.115264	0	0
OR4D10	390197	broad.mit.edu	37	11	59244952	59244952	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:59244952T>C	ENST00000530162.1	+	1	107	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCCTTGGCCTGACCCAGAAT	0.408000													39	99					0	0	0.086207	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026420	27026420	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:27026420A>T	ENST00000354760.3	+	6	595	c.560A>T	c.(559-561)cAg>cTg	p.Q187L	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	187	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGACCTTCCAGGTGCAGAGC	0.587000													30	49					0	0	0.173368	0	0
NLRC3	197358	broad.mit.edu	37	16	3606914	3606914	+	RNA	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:3606914C>T	ENST00000301749.7	-	0	2586				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACACACACCTCAGGGAGGTCA	0.567000													11	10					0	0	0.080935	0	0
LSG1	55341	broad.mit.edu	37	3	194380842	194380842	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:194380842A>T	ENST00000265245.5	-	6	856	c.542T>A	c.(541-543)gTa>gAa	p.V181E		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	181					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCGAGCATCTACTATCTGGAC	0.418000													84	209					0	0	0.139131	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978001	45978001	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr21:45978001G>T	ENST00000391620.1	-	1	642	c.598C>A	c.(598-600)Cgc>Agc	p.R200S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	200	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACGTGGGGCGGCAGAGGAGG	0.692000													16	56					1.64293e-13	1.92401e-13	0.083992	1	0
THUMPD2	80745	broad.mit.edu	37	2	39964054	39964054	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:39964054C>T	ENST00000505747.1	-	10	1360	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	THUMPD2_ENST00000260619.6_Missense_Mutation_p.E415K	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	445							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GTTTTTTCTTCAGGATTCAAG	0.428000													99	266					0	0	0.139131	0	0
CUL3	8452	broad.mit.edu	37	2	225376227	225376227	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:225376227C>T	ENST00000264414.4	-	6	1065	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	CUL3_ENST00000409096.1_Missense_Mutation_p.E219K|CUL3_ENST00000409777.1_Missense_Mutation_p.E219K|CUL3_ENST00000344951.4_Missense_Mutation_p.E177K	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	243					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	p.E243K(1)		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)		TCTATTTCTTCATTAATTCTA	0.323000													21	122					0	0	0.062417	0	0
NTM	50863	broad.mit.edu	37	11	132177677	132177677	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:132177677G>T	ENST00000374786.1	+	4	1100	c.621G>T	c.(619-621)gtG>gtT	p.V207V	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.V207V|NTM_ENST00000539799.1_Silent_p.V207V|NTM_ENST00000374791.3_Silent_p.V207V|NTM_ENST00000427481.2_Silent_p.V198V|NTM_ENST00000425719.2_Silent_p.V207V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	207	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCAATGACGTGGCCGCGCCCG	0.587000													19	67					3.32936e-07	3.61887e-07	0.175082	1	0
SDC1	6382	broad.mit.edu	37	2	20402600	20402600	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:20402600G>T	ENST00000381150.1	-	6	1250	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.S287Y|SDC1_ENST00000403076.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	287					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.S287>?(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCCTCCAAGGAGTAGCTGCC	0.612000													14	114					4.96729e-08	5.45075e-08	0.049695	1	0
DIP2B	57609	broad.mit.edu	37	12	51126161	51126161	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:51126161A>C	ENST00000301180.5	+	32	3857	c.3823A>C	c.(3823-3825)Aac>Cac	p.N1275H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1275						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGAGGGATCAACCTCTCCTG	0.547000													39	106					0	0	0.124865	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													5	164					0.00307968	0.00316783	0.038147	1	0
CMYA5	202333	broad.mit.edu	37	5	79031334	79031334	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:79031334C>T	ENST00000446378.2	+	2	6777	c.6746C>T	c.(6745-6747)cCc>cTc	p.P2249L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2249						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)		GCTGATGAACCCAGAGGTACT	0.343000													52	224					0	0	0.139131	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041493	234041493	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:234041493C>A	ENST00000366618.3	+	2	417	c.272C>A	c.(271-273)gCg>gAg	p.A91E		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCCTGGGCAGCGAGCTGCAAA	0.622000													37	76					3.09479e-21	3.78618e-21	0.092188	1	0
ZAN	7455	broad.mit.edu	37	7	100388610	100388610	+	RNA	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:100388610C>T	ENST00000542585.1	+	0	7549				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGCCTGTGCGGAAACTACG	0.552000													7	34					0	0	0.038147	0	0
AHNAK	79026	broad.mit.edu	37	11	62289498	62289498	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:62289498T>C	ENST00000378024.4	-	5	12665	c.12391A>G	c.(12391-12393)Atg>Gtg	p.M4131V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4131					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCAGGCATAGAGATCTTC	0.493000													29	177					0	0	0.116897	0	0
TMEM246	84302	broad.mit.edu	37	9	104238916	104238916	+	Silent	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:104238916A>G	ENST00000374851.1	-	4	1606	c.459T>C	c.(457-459)ttT>ttC	p.F153F	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.F153F|TMEM246_ENST00000374848.3_Silent_p.F153F			Q9BRR3	CI125_HUMAN	transmembrane protein 246	153						integral to membrane											ACTTGGCATCAAAATGGCTCA	0.537000													74	94					0	0	0.139131	0	0
STIL	6491	broad.mit.edu	37	1	47717449	47717449	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:47717449T>C	ENST00000360380.3	-	18	3586	c.3223A>G	c.(3223-3225)Aat>Gat	p.N1075D	STIL_ENST00000371877.3_Missense_Mutation_p.N1076D|STIL_ENST00000243182.6_Missense_Mutation_p.N1075D|STIL_ENST00000337817.5_Missense_Mutation_p.N1075D|STIL_ENST00000396221.2_Missense_Mutation_p.N1058D			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1075					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACAGCTGATTTTCATTTAAA	0.428000													7	322					0	0	0.029380	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697745	111697745	+	Translation_Start_Site	SNP	T	T	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:111697745T>G	ENST00000340433.2	+	0	19					NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16								nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTTTTCCATGAAGAAGAGG	0.408000													2	3					0	0	0.115264	0	0
PCYT1B	9468	broad.mit.edu	37	X	24665111	24665111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:24665111G>A	ENST00000379144.2	-	1	242	c.112C>T	c.(112-114)Cga>Tga	p.R38*	PCYT1B_ENST00000356768.4_Nonsense_Mutation_p.R38*|PCYT1B_ENST00000379145.1_Intron	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTTACCAGTCGAGGCTGTGGG	0.488000													33	49					0	0	0.117977	0	0
UBD	10537	broad.mit.edu	37	6	29523863	29523863	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:29523863C>T	ENST00000377050.4	-	2	515	c.292G>A	c.(292-294)Gag>Aag	p.E98K	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	98	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTTTGCCTCATCACCTGAC	0.507000													46	192					0	0	0.139131	0	0
C2CD2L	9854	broad.mit.edu	37	11	118980898	118980898	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:118980898G>A	ENST00000336702.3	+	2	798	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	147						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AGACCAATCTGAGCATACCAT	0.552000													33	109					0	0	0.064281	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931800	11931800	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:11931800C>A	ENST00000571133.1	-	9	1389	c.1317G>T	c.(1315-1317)gtG>gtT	p.V439V	RSL1D1_ENST00000542106.1_Silent_p.V219V	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	439					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ttttttccttcactgcctctt	0.463000													232	376					2.95524e-94	3.76777e-94	0.139131	1	0
OBSCN	84033	broad.mit.edu	37	1	228402505	228402505	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:228402505C>T	ENST00000570156.2	+	5	1608	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P512S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P512S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	512	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAAGCCTCCCCTGCAACC	0.607000													6	14					0	0	0.029380	0	0
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55703185C>G	ENST00000301532.3	-	1	691	c.692G>C	c.(691-693)cGc>cCc	p.R231P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACTGAAAGAGCGGATCTTTAA	0.458000													9	53					0	0	0.047766	0	0
GUF1	60558	broad.mit.edu	37	4	44691915	44691915	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:44691915G>C	ENST00000281543.5	+	11	1452	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	420					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACTGGAGCAAGAATATAATGC	0.388000													3	120					0	0	0.115264	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500035	48500035	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:48500035C>A	ENST00000396577.3	+	2	334	c.119C>A	c.(118-120)aCt>aAt	p.T40N	SLC12A1_ENST00000558405.1_Missense_Mutation_p.T40N|SLC12A1_ENST00000561031.1_Missense_Mutation_p.T40N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T40N|SLC12A1_ENST00000330289.6_Missense_Mutation_p.T40N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	40					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATGACAATACTGACCCACCA	0.428000													20	42					1.28384e-07	1.40344e-07	0.062417	1	0
NALCN	259232	broad.mit.edu	37	13	101707798	101707798	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:101707798C>T	ENST00000251127.6	-	44	5147	c.5066G>A	c.(5065-5067)cGg>cAg	p.R1689Q	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1689						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCCAAACCGTAAGTTGAC	0.478000													8	630					0	0	0.058154	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652023	115652023	+	Silent	SNP	G	G	A	rs139403102		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:115652023G>A	ENST00000374228.4	-	1	1170	c.939C>T	c.(937-939)ctC>ctT	p.L313L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	313						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGTTCCAACCGAGAGGCTCCC	0.557000													10	21					0	0	0.058154	0	0
BBS7	55212	broad.mit.edu	37	4	122756398	122756398	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:122756398T>C	ENST00000264499.4	-	14	1595	c.1412A>G	c.(1411-1413)tAt>tGt	p.Y471C	BBS7_ENST00000506636.1_Missense_Mutation_p.Y471C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	471					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGAGTCACATATGCTTGTAG	0.383000									Bardet-Biedl syndrome				17	103					0	0	0.175082	0	0
NLRP9	338321	broad.mit.edu	37	19	56244069	56244069	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:56244069G>C	ENST00000332836.2	-	2	1155	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	376	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCCTGCTTTGAATACAGTTG	0.413000													49	310					0	0	0.139131	0	0
NR5A2	2494	broad.mit.edu	37	1	200080375	200080375	+	Silent	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:200080375T>C	ENST00000367362.3	+	6	1402	c.1156T>C	c.(1156-1158)Tta>Cta	p.L386L	NR5A2_ENST00000236914.3_Silent_p.L340L|NR5A2_ENST00000544748.1_Silent_p.L314L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	386	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GAGTGAGCTCTTAATCCTCGA	0.383000													14	190					0	0	0.119110	0	0
TFPI2	7980	broad.mit.edu	37	7	93519512	93519512	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:93519512C>T	ENST00000222543.5	-	2	520	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TFPI2_ENST00000545378.1_Missense_Mutation_p.E70K|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	70	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCGTTGCCCTCGCAGCCCCCG	0.612000													16	95					0	0	0.175082	0	0
KMT2D	8085	broad.mit.edu	37	12	49438022	49438022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:49438022G>A	ENST00000301067.7	-	21	5148	c.5149C>T	c.(5149-5151)Cag>Tag	p.Q1717*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCTCCGCCTGTGCAGCAGGC	0.617000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	46					0	0	0.105934	0	0
OLFM3	118427	broad.mit.edu	37	1	102312399	102312399	+	Splice_Site	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:102312399A>G	ENST00000338858.5	-	1	129		c.e1+1		OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Splice_Site			Q96PB7	NOE3_HUMAN	olfactomedin 3							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)		GCAGTAACTTACTAAGGTATC	0.463000													7	245					0	0	0.058154	0	0
LRP1B	53353	broad.mit.edu	37	2	141267620	141267620	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:141267620T>C	ENST00000389484.3	-	52	9246	c.8275A>G	c.(8275-8277)Ata>Gta	p.I2759V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2759					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCACAGGTTATGGCACCTGAA	0.483000										TSP Lung(27;0.18)			47	92					0	0	0.131918	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664478	44664478	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:44664478C>T	ENST00000454036.1	+	4	487	c.411C>T	c.(409-411)gtC>gtT	p.V137V	SLC12A5_ENST00000372315.1_Silent_p.V114V|SLC12A5_ENST00000539566.1_Silent_p.V114V|SLC12A5_ENST00000243964.3_Silent_p.V114V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	137					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTTGGCGTCATCCTCTTCC	0.602000													6	26					0	0	0.047766	0	0
OR8D4	338662	broad.mit.edu	37	11	123777198	123777198	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:123777198A>T	ENST00000321355.2	+	1	90	c.60A>T	c.(58-60)caA>caT	p.Q20H		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAACTGAACAAGCAGAGCTTC	0.423000													27	194					0	0	0.125774	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968624	21968624	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:21968624A>T	ENST00000268379.4	+	2	866	c.102A>T	c.(100-102)caA>caT	p.Q34H	UQCRC2_ENST00000561553.1_Missense_Mutation_p.Q34H	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	34					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CACCGCCACAACCTCAGGACC	0.438000													31	54					0	0	0.131918	0	0
IRX2	153572	broad.mit.edu	37	5	2747724	2747724	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:2747724C>T	ENST00000382611.6	-	4	1618	c.1370G>A	c.(1369-1371)aGc>aAc	p.S457N	IRX2_ENST00000302057.5_Missense_Mutation_p.S457N	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGCCCTCGCTGGCATCTGT	0.642000													3	37					0	0	0.115264	0	0
KIF6	221458	broad.mit.edu	37	6	39328278	39328278	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:39328278C>A	ENST00000287152.7	-	18	2069	c.1975G>T	c.(1975-1977)Gcc>Tcc	p.A659S	KIF6_ENST00000373213.4_Missense_Mutation_p.A498S|KIF6_ENST00000373216.3_Missense_Mutation_p.A659S|KIF6_ENST00000373215.3_Missense_Mutation_p.A642S|KIF6_ENST00000541946.1_Missense_Mutation_p.A110S|KIF6_ENST00000538893.1_Missense_Mutation_p.A603S|KIF6_ENST00000394362.1_Missense_Mutation_p.A110S|KIF6_ENST00000229913.5_Missense_Mutation_p.A110S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	659					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCTTCAGGGCTTTCAGGCGA	0.527000													15	85					3.27435e-08	3.59991e-08	0.119110	1	0
LGALS14	56891	broad.mit.edu	37	19	40198008	40198008	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:40198008G>A	ENST00000392052.3	+	3	506	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	LGALS14_ENST00000360675.3_Missense_Mutation_p.V124M	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	95	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			GTGCATCTATGTGCGTCACAA	0.468000													86	1497					0	0	0.139131	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373000													5	171					0	0	0.021553	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158677	26158677	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:26158677G>C	ENST00000289316.2	+	1	304	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E94Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	94					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CACCTCCAGGGAGATCCAGAC	0.622000													4	141					0	0	0.150653	0	0
ADCY2	108	broad.mit.edu	37	5	7698442	7698442	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:7698442C>G	ENST00000338316.4	+	7	1153	c.1064C>G	c.(1063-1065)gCc>gGc	p.A355G	ADCY2_ENST00000537121.1_Missense_Mutation_p.A175G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	355					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTAACCATGCCAAGAACTGT	0.388000													5	202					0	0	0.021553	0	0
DENND1C	79958	broad.mit.edu	37	19	6467742	6467742	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:6467742C>G	ENST00000381480.2	-	23	2291	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	DENND1C_ENST00000543576.1_Missense_Mutation_p.D683H	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	727						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CAGGCTATATCAAAGTTGGGC	0.627000													3	23					0	0	0.115264	0	0
SDC1	6382	broad.mit.edu	37	2	20402913	20402913	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:20402913G>C	ENST00000381150.1	-	5	1088	c.698C>G	c.(697-699)tCc>tGc	p.S233C	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.S233C|SDC1_ENST00000403076.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	233					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ATCCACTGGGGACTGGTTCCG	0.622000													8	54					0	0	0.080935	0	0
CECR2	27443	broad.mit.edu	37	22	17978517	17978517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:17978517G>T	ENST00000262608.8	+	3	358	c.358G>T	c.(358-360)Gga>Tga	p.G120*	CECR2_ENST00000342247.5_Nonsense_Mutation_p.G119*|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000400573.4_Nonsense_Mutation_p.G139*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	161					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GTATTTCTATGGAACACGAAT	0.478000													39	71					4.62619e-21	5.64768e-21	0.069456	1	0
SIGLEC15	284266	broad.mit.edu	37	18	43418689	43418689	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:43418689C>T	ENST00000389474.3	+	4	720	c.503C>T	c.(502-504)cCg>cTg	p.P168L	SIGLEC15_ENST00000587418.1_5'UTR|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Missense_Mutation_p.P14L	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	168	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCAGCCGCGCCGCGGATCGTC	0.721000													4	7					0	0	0.150653	0	0
TCN1	6947	broad.mit.edu	37	11	59622224	59622224	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:59622224C>T	ENST00000257264.3	-	7	1126	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	341					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATTGATTCTCACAGAGTA	0.408000													4	152					0	0	0.014758	0	0
SLC22A15	55356	broad.mit.edu	37	1	116534856	116534856	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:116534856G>T	ENST00000369503.4	+	2	422	c.292G>T	c.(292-294)Gcc>Tcc	p.A98S	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A98S	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	98					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACCTCCATCGCCTCGGAGGT	0.483000													6	17					0.0293803	0.0297949	0.029380	1	0
MAP3K4	4216	broad.mit.edu	37	6	161519344	161519344	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:161519344G>T	ENST00000392142.4	+	17	3707	c.3559G>T	c.(3559-3561)Ggc>Tgc	p.G1187C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1183C|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1187					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGGAGCCATGGCAGCCctgc	0.572000													9	98					4.14922e-12	4.78116e-12	0.146539	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140783387	140783387	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140783387C>G	ENST00000573521.1	+	1	868	c.868C>G	c.(868-870)Ctg>Gtg	p.L290V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAATCTCTGCTATTCCA	0.388000													11	103					0	0	0.069234	0	0
RPRD2	23248	broad.mit.edu	37	1	150444486	150444486	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:150444486C>G	ENST00000401000.4	+	10	3049	c.2984C>G	c.(2983-2985)tCa>tGa	p.S995*	RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.S1021*			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1021							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGTAAGCCCTCAGATGATAAG	0.527000													79	379					0	0	0.139131	0	0
C3orf67	200844	broad.mit.edu	37	3	58728278	58728278	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:58728278T>A	ENST00000295966.7	-	16	2104	c.1601A>T	c.(1600-1602)gAa>gTa	p.E534V	C3orf67_ENST00000482387.1_Missense_Mutation_p.E660V	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	529										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTCGTCCTCTTCCACACTGAG	0.488000													24	38					0	0	0.091800	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74590293	74590293	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:74590293C>G	ENST00000451608.2	-	2	95	c.96G>C	c.(94-96)atG>atC	p.M32I	DCTN1_ENST00000409438.1_Missense_Mutation_p.M980I|DCTN1_ENST00000409868.1_Missense_Mutation_p.M1097I|DCTN1_ENST00000407639.2_Missense_Mutation_p.M985I|DCTN1_ENST00000361874.3_Missense_Mutation_p.M1119I|DCTN1_ENST00000409240.1_Missense_Mutation_p.M1077I|DCTN1_ENST00000409567.3_Missense_Mutation_p.M1094I|DCTN1_ENST00000394003.3_Missense_Mutation_p.M1112I																							AGGATGCCTTCATCTGGGCTC	0.532000													33	117					0	0	0.163468	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795691	133795691	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:133795691C>T	ENST00000321016.8	-	14	2207	c.1977G>A	c.(1975-1977)ttG>ttA	p.L659L	IGSF9B_ENST00000533871.2_Silent_p.L659L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	659	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CATCGTCGAGCAACTCCCAGC	0.597000													13	27					0	0	0.093190	0	0
LRIG3	121227	broad.mit.edu	37	12	59271635	59271635	+	Splice_Site	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:59271635C>G	ENST00000320743.3	-	15	2370		c.e15-1		LRIG3_ENST00000379141.4_Splice_Site	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3							integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GATGGTGTTTCTGAAATAACA	0.363000			T	ROS1	NSCLC								17	57					0	0	0.175082	0	0
GEN1	348654	broad.mit.edu	37	2	17962451	17962451	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:17962451G>C	ENST00000381254.2	+	14	2186	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E658Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	658					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)					TAGTCCTGAAGAGCATCTACT	0.363000								Homologous recombination					17	96					0	0	0.146539	0	0
PPIG	9360	broad.mit.edu	37	2	170460729	170460729	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:170460729G>A	ENST00000260970.3	+	4	314	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	PPIG_ENST00000448752.2_Missense_Mutation_p.V32M|PPIG_ENST00000462903.1_Missense_Mutation_p.V32M|PPIG_ENST00000409714.3_Missense_Mutation_p.V32M	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	32	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTTTCTGATGTGTGCCCCAA	0.348000													23	146					0	0	0.091800	0	0
DRD5	1816	broad.mit.edu	37	4	9783935	9783935	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:9783935C>G	ENST00000304374.2	+	1	678	c.282C>G	c.(280-282)gtC>gtG	p.V94V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	94					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCTGCTGGTCATGCCCTGGA	0.632000													11	78					0	0	0.093190	0	0
UNC13C	440279	broad.mit.edu	37	15	54556378	54556378	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:54556378A>T	ENST00000545554.1	+	8	3461	c.3461A>T	c.(3460-3462)aAg>aTg	p.K1154M	UNC13C_ENST00000537900.1_Missense_Mutation_p.K1152M|UNC13C_ENST00000260323.11_Missense_Mutation_p.K1154M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1154					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCAGAAAAGAGTTCTAAA	0.413000													7	14					0	0	0.038147	0	0
OR6X1	390260	broad.mit.edu	37	11	123624576	123624576	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:123624576G>C	ENST00000327930.2	-	1	677	c.651C>G	c.(649-651)atC>atG	p.I217M		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		ACAGAATGTAGATATAAGAAA	0.488000													45	203					0	0	0.124865	0	0
MKL1	57591	broad.mit.edu	37	22	40825747	40825747	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:40825747T>C	ENST00000396617.3	-	7	754	c.164A>G	c.(163-165)cAg>cGg	p.Q55R	MKL1_ENST00000407029.1_Missense_Mutation_p.Q55R|MKL1_ENST00000355630.3_Missense_Mutation_p.Q55R|MKL1_ENST00000402042.1_Missense_Mutation_p.Q55R|MKL1_ENST00000402630.1_Missense_Mutation_p.Q55R			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	55	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCTTGGCCTGGAGGGATGG	0.577000			T	RBM15	acute megakaryocytic leukemia								12	68					0	0	0.105934	0	0
C1orf173	127254	broad.mit.edu	37	1	75108782	75108782	+	Splice_Site	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:75108782G>T	ENST00000326665.5	-	4	462	c.243_splice	c.e4-1	p.R82_splice		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	82										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGATGGTAACGCTAAGCATAC	0.338000													49	72					1.56989e-16	1.87669e-16	0.139131	1	0
PROM2	150696	broad.mit.edu	37	2	95954337	95954337	+	Splice_Site	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:95954337G>T	ENST00000317620.9	+	22	2574	c.2441_splice	c.e22+1	p.S814_splice	PROM2_ENST00000542147.1_Splice_Site_p.S765_splice|PROM2_ENST00000403131.2_Splice_Site_p.S814_splice|PROM2_ENST00000317668.4_Splice_Site_p.S814_splice	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	814						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACGCCTCAGGTGAGGGGCT	0.617000													25	43					4.22769e-11	4.83285e-11	0.116897	1	0
KLK11	11012	broad.mit.edu	37	19	51527938	51527938	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:51527938G>A	ENST00000594768.1	-	3	434	c.249C>T	c.(247-249)ctC>ctT	p.L83L	KLK11_ENST00000391804.3_Silent_p.L51L|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Silent_p.L51L|KLK11_ENST00000453757.3_Silent_p.L51L|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	83	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGGGGGCGATGAGCGTCGCCC	0.677000													4	82					0	0	0.021553	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485409	97485409	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:97485409G>A	ENST00000376705.2	+	2	1397	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	458						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCTGCAGAAGGGACTGTCACC	0.627000													21	43					0	0	0.049695	0	0
MPV17	4358	broad.mit.edu	37	2	27535576	27535576	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:27535576C>A	ENST00000357186.6	-	2	1311	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	MPV17_ENST00000405983.1_Missense_Mutation_p.D99Y|MPV17_ENST00000402722.1_Missense_Mutation_p.G72V|MPV17_ENST00000380044.1_Missense_Mutation_p.D84Y|MPV17_ENST00000402310.1_Missense_Mutation_p.D84Y|MPV17_ENST00000403262.2_Missense_Mutation_p.D84Y|MPV17_ENST00000233545.2_Missense_Mutation_p.D84Y|MPV17_ENST00000405076.1_Intron			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	84					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGTGCATCCACTTTGGTG	0.547000													19	69					2.37509e-13	2.77577e-13	0.055883	1	0
HSPG2	3339	broad.mit.edu	37	1	22191810	22191810	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:22191810C>G	ENST00000374695.3	-	35	4442	c.4363G>C	c.(4363-4365)Gag>Cag	p.E1455Q		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1455	Laminin IV type A 3.				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)	CTCCTCCTCTCAGGGCCCTGC	0.627000													22	42					0	0	0.069288	0	0
DDIT3	1649	broad.mit.edu	37	12	57910625	57910625	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:57910625C>G	ENST00000551116.1	-	4	813	c.546G>C	c.(544-546)ctG>ctC	p.L182L	DDIT3_ENST00000547303.1_Silent_p.L159L|DDIT3_ENST00000346473.3_Silent_p.L159L|DDIT3_ENST00000552740.1_Silent_p.L182L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	159					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TTCGGTCAATCAGAGCTCGGC	0.532000			T	FUS	liposarcoma								45	229					0	0	0.111260	0	0
OR6T1	219874	broad.mit.edu	37	11	123814447	123814447	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:123814447C>A	ENST00000321252.2	-	1	133	c.99G>T	c.(97-99)gtG>gtT	p.V33V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAATGTAGGTCACCATTAACC	0.478000													42	108					1.47197e-15	1.74512e-15	0.098360	1	0
COBLL1	22837	broad.mit.edu	37	2	165551528	165551528	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:165551528G>A	ENST00000375458.2	-	11	2595	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P830S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P897S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P830S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P868S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	868										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTGGCAGTGGCTCTTCTGGG	0.463000													36	198					0	0	0.074837	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038431	14038431	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:14038431G>A	ENST00000380523.4	-	4	556	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	GEMIN8_ENST00000398355.3_Missense_Mutation_p.H80Y|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	80					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CAGGCCACATGATGGTCATAG	0.488000													26	71					0	0	0.099896	0	0
AHR	196	broad.mit.edu	37	7	17382562	17382562	+	Silent	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:17382562A>G	ENST00000242057.4	+	11	3064	c.2421A>G	c.(2419-2421)ttA>ttG	p.L807L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	807				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATGGAGTTTTAAATGAAACAT	0.338000													91	148					0	0	0.139131	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374473	95374473	+	RNA	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:95374473G>A	ENST00000494840.1	-	0	1388					NR_077228.1																						AGCTGAACAAGGTGGCCATCT	0.378000													26	29					0	0	0.083992	0	0
KIF18A	81930	broad.mit.edu	37	11	28090868	28090868	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:28090868T>A	ENST00000263181.6	-	11	1818	c.1528A>T	c.(1528-1530)Aat>Tat	p.N510Y		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	510					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGGAGCCAATTAGTATTCTCA	0.393000													30	51					0	0	0.134883	0	0
CR1L	1379	broad.mit.edu	37	1	207868059	207868059	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:207868059G>C	ENST00000508064.2	+	5	885	c.825G>C	c.(823-825)ctG>ctC	p.L275L	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	275	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCAGGCCCTGAACAAATGGG	0.522000													3	125					0	0	0.014758	0	0
CENPE	1062	broad.mit.edu	37	4	104061195	104061195	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:104061195C>G	ENST00000265148.3	-	38	6044	c.5955G>C	c.(5953-5955)gtG>gtC	p.V1985V	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1985					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATCTTCTTTCACTCTAAGCA	0.328000													13	55					0	0	0.093190	0	0
SRBD1	55133	broad.mit.edu	37	2	45812906	45812906	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:45812906G>C	ENST00000263736.4	-	5	718	c.656C>G	c.(655-657)tCt>tGt	p.S219C		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	219					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCTCTCAGATAAAACCTG	0.289000													44	108					0	0	0.111260	0	0
TM9SF3	56889	broad.mit.edu	37	10	98307731	98307731	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:98307731G>A	ENST00000371142.4	-	8	1191	c.975C>T	c.(973-975)ctC>ctT	p.L325L	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	325						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGGCTGTACTGAGCATTGATC	0.328000													29	163					0	0	0.144211	0	0
MTUS1	57509	broad.mit.edu	37	8	17601265	17601265	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:17601265G>C	ENST00000381869.3	-	3	2608	c.2135C>G	c.(2134-2136)tCc>tGc	p.S712C	MTUS1_ENST00000262102.6_Missense_Mutation_p.S712C|MTUS1_ENST00000519263.1_Missense_Mutation_p.S712C|MTUS1_ENST00000381862.3_Missense_Mutation_p.S712C	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	712						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTCAGGCTTGGATATATTCCT	0.463000													28	97					0	0	0.144211	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484854	97484854	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:97484854G>A	ENST00000376705.2	+	2	842	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	273						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATGTGTGATGGAAGAAGCCCC	0.532000													30	71					0	0	0.144211	0	0
WNK1	65125	broad.mit.edu	37	12	980452	980452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:980452C>T	ENST00000537687.1	+	10	4043	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q314*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q721*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1219*|WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q721*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	879					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)			GAGCCAGGGTCAGCCATCCTC	0.438000													39	55					0	0	0.092188	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724478	140724478	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140724478A>T	ENST00000253812.6	+	1	878	c.878A>T	c.(877-879)cAt>cTt	p.H293L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATTTTCCATCTTAACTCA	0.408000													5	61					0	0	0.021553	0	0
SPTA1	6708	broad.mit.edu	37	1	158581118	158581118	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:158581118C>T	ENST00000368148.3	-	52	7376	c.7196G>A	c.(7195-7197)cGg>cAg	p.R2399Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2396Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCGACCCCGTGGGTCCAT	0.443000													78	196					0	0	0.139131	0	0
HELQ	113510	broad.mit.edu	37	4	84369980	84369980	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:84369980C>G	ENST00000295488.3	-	3	1309	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	HELQ_ENST00000510985.1_Missense_Mutation_p.D383H	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	383	Helicase ATP-binding.						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						ATTAAAACATCTTTCCGACAG	0.353000								Other identified genes with known or suspected DNA repair function					22	167					0	0	0.099896	0	0
CCDC141	285025	broad.mit.edu	37	2	179737000	179737000	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:179737000A>T	ENST00000420890.2	-	13	2056	c.1939T>A	c.(1939-1941)Tac>Aac	p.Y647N	CCDC141_ENST00000295723.5_Missense_Mutation_p.Y72N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	72							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)			TTCATGAGGTACACTTCATTT	0.403000													13	141					0	0	0.119110	0	0
NPAT	4863	broad.mit.edu	37	11	108059914	108059914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:108059914G>A	ENST00000278612.8	-	6	580	c.475C>T	c.(475-477)Cga>Tga	p.R159*		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	159	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CCACTTGGTCGAGTAACCTGT	0.448000													29	145					0	0	0.134883	0	0
ZNF207	7756	broad.mit.edu	37	17	30689982	30689982	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:30689982C>G	ENST00000394670.4	+	7	818	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	ZNF207_ENST00000394673.2_Missense_Mutation_p.L217V|ZNF207_ENST00000342555.6_Missense_Mutation_p.L220V|ZNF207_ENST00000341711.6_Missense_Mutation_p.L118V|ZNF207_ENST00000321233.6_Missense_Mutation_p.L201V|ZNF207_ENST00000577908.1_Missense_Mutation_p.L217V	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	201						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATACCACCTCTGATGCCTGG	0.373000													13	106					0	0	0.119110	0	0
THRB	7068	broad.mit.edu	37	3	24188166	24188166	+	Splice_Site	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:24188166A>T	ENST00000396671.2	-	7	880	c.532_splice	c.e7+1	p.L178_splice	THRB_ENST00000280696.5_Splice_Site_p.L193_splice|THRB_ENST00000416420.1_Splice_Site_p.L178_splice|THRB_ENST00000356447.4_Splice_Site_p.L178_splice	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	178					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATCTACTTACAATCTGTTGCC	0.408000													12	61					0	0	0.105934	0	0
OR4S2	219431	broad.mit.edu	37	11	55419180	55419180	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55419180G>C	ENST00000312422.2	+	1	801	c.801G>C	c.(799-801)aaG>aaC	p.K267N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	267					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)				CAGAGGATAAGATGGTGGCTG	0.438000													134	447					0	0	0.139131	0	0
BPTF	2186	broad.mit.edu	37	17	65822348	65822348	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:65822348G>A	ENST00000321892.4	+	1	569	c.508G>A	c.(508-510)Gac>Aac	p.D170N	BPTF_ENST00000335221.5_Missense_Mutation_p.D170N|BPTF_ENST00000424123.3_Missense_Mutation_p.D31N|BPTF_ENST00000306378.6_Missense_Mutation_p.D170N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	170	Asp-rich.|Glu-rich.				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)			GGAAGAGGACGACGATGACTC	0.587000													10	78					0	0	0.093190	0	0
OR14C36	127066	broad.mit.edu	37	1	248512967	248512967	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:248512967G>T	ENST00000317861.1	+	1	891	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						AAATAAAGGTGGCCATCAAGA	0.383000													49	136					6.56871e-35	8.21089e-35	0.139131	1	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043818	51043818	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:51043818C>T	ENST00000399908.2	+	4	1706	c.990C>T	c.(988-990)ttC>ttT	p.F330F	MAPK8IP2_ENST00000329492.3_Silent_p.F595F|MAPK8IP2_ENST00000442429.2_Silent_p.F318F|MAPK8IP2_ENST00000341339.4_Silent_p.F216F|MAPK8IP2_ENST00000008876.5_Silent_p.F301F|MAPK8IP2_ENST00000399912.1_Silent_p.F330F	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	596					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTGGCCTTTTCTCCTGTCTGG	0.652000													4	13					0	0	0.150653	0	0
USH2A	7399	broad.mit.edu	37	1	216373195	216373195	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:216373195A>T	ENST00000366943.2	-	17	3971	c.3585T>A	c.(3583-3585)tgT>tgA	p.C1195*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.C1195*|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.C1195*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1195	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTAGGAAACACATGGCTGAC	0.473000										HNSCC(13;0.011)			65	212					0	0	0.139131	0	0
TMEM106C	79022	broad.mit.edu	37	12	48360468	48360468	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:48360468G>A	ENST00000429772.2	+	6	668	c.555G>A	c.(553-555)gtG>gtA	p.V185V	TMEM106C_ENST00000552561.1_Silent_p.V185V|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Silent_p.V166V|TMEM106C_ENST00000552546.1_Silent_p.V114V|TMEM106C_ENST00000550552.1_Silent_p.V166V|TMEM106C_ENST00000449758.2_Silent_p.V166V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	185						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ATTTTCAGGTGAATTTTACCG	0.453000													51	143					0	0	0.139131	0	0
ZP2	7783	broad.mit.edu	37	16	21220985	21220985	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:21220985C>G	ENST00000574002.1	-	5	779	c.297G>C	c.(295-297)ctG>ctC	p.L99L	ZP2_ENST00000219593.4_Silent_p.L99L|ZP2_ENST00000574091.1_Silent_p.L99L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	99					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGTAGCCCTCAGGGTGAGCT	0.493000													3	124					0	0	0.115264	0	0
TNXB	7148	broad.mit.edu	37	6	32018016	32018016	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:32018016C>T	ENST00000375244.3	-	27	9399	c.9198G>A	c.(9196-9198)ctG>ctA	p.L3066L	TNXB_ENST00000375247.2_Silent_p.L3064L			P22105	TENX_HUMAN	tenascin XB	3111	Fibronectin type-III 22.				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						CTGTCACGGTCAGCTCCCCCA	0.627000													9	79					0	0	0.093190	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963128	106963128	+	RNA	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:106963128A>T	ENST00000390621.2	-	0	211																											CAGTGCAGGTAGCGGTAGGTG	0.562000													39	94					0	0	0.104719	0	0
SVIL	6840	broad.mit.edu	37	10	29820203	29820203	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:29820203G>A	ENST00000375398.2	-	12	2473	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	SVIL_ENST00000355867.4_Missense_Mutation_p.S675L|SVIL_ENST00000375400.3_Missense_Mutation_p.S281L			O95425	SVIL_HUMAN	supervillin	675					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCGTTTCTGAATGTGAAGT	0.338000													26	171					0	0	0.134883	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163061	123163061	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:123163061A>G	ENST00000349780.4	-	35	5589	c.5410T>C	c.(5410-5412)Tca>Cca	p.S1804P	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1725P|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1772P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1763P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1804	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCGGGGAGTGAGACTCTCCAG	0.587000													3	81					0	0	0.115264	0	0
DNAH9	1770	broad.mit.edu	37	17	11671874	11671874	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:11671874G>C	ENST00000262442.3	+	37	7343	c.7275G>C	c.(7273-7275)gaG>gaC	p.E2425D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2425D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2425					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGACCCAGAGACCAAGAAAT	0.532000													93	96					0	0	0.139131	0	0
EIF4G3	8672	broad.mit.edu	37	1	21191193	21191193	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:21191193T>C	ENST00000602326.1	-	20	3215	c.2632A>G	c.(2632-2634)Aca>Gca	p.T878A	EIF4G3_ENST00000400422.1_Missense_Mutation_p.T872A|EIF4G3_ENST00000264211.8_Missense_Mutation_p.T872A|EIF4G3_ENST00000374935.3_Missense_Mutation_p.T592A|EIF4G3_ENST00000374937.3_Missense_Mutation_p.T878A|EIF4G3_ENST00000537738.1_Missense_Mutation_p.T362A|EIF4G3_ENST00000536266.1_Missense_Mutation_p.T476A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	872	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAAGCCTTGTCCTCTCCTCT	0.438000													31	52					0	0	0.173368	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261071	21261071	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:21261071G>C	ENST00000311620.5	+	2	257	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	62										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGATAGGTGTGACATCTGGGG	0.448000													5	155					0	0	0.029380	0	0
ZNF573	126231	broad.mit.edu	37	19	38229842	38229842	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:38229842G>C	ENST00000339503.4	-	8	1876	c.1375C>G	c.(1375-1377)Cag>Gag	p.Q459E	ZNF573_ENST00000392138.1_Missense_Mutation_p.Q430E|ZNF573_ENST00000536220.1_Missense_Mutation_p.Q429E|ZNF573_ENST00000590414.2_Missense_Mutation_p.Q517E|ZNF573_ENST00000357309.3_Missense_Mutation_p.Q429E	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGAATTTTCTGATGTTGATTA	0.328000													20	371					0	0	0.043863	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218447	208218447	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:208218447C>T	ENST00000367033.3	-	19	4361	c.3604G>A	c.(3604-3606)Gag>Aag	p.E1202K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1202	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGGGAGGCTCGCAGAGAAGC	0.592000													33	104					0	0	0.173368	0	0
NOS1	4842	broad.mit.edu	37	12	117768312	117768312	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:117768312G>A	ENST00000317775.6	-	2	1248	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_ENST00000338101.4_Missense_Mutation_p.A188V|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTTTCTTCGCGGGGTCCTG	0.632000													13	93					0	0	0.132662	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52975360	52975360	+	Missense_Mutation	SNP	G	G	A	rs138715096		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:52975360G>A	ENST00000371544.3	-	4	1169	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R303W	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	303					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATAGATACCGACAATTGGTA	0.308000													14	31					0	0	0.175082	0	0
HUWE1	10075	broad.mit.edu	37	X	53578370	53578370	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:53578370G>A	ENST00000342160.3	-	63	9410	c.8953C>T	c.(8953-8955)Cta>Tta	p.L2985L	HUWE1_ENST00000262854.6_Silent_p.L2985L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2985					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTTCTGTAGAACTTCCCGA	0.547000													12	23					0	0	0.093190	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328685	23328685	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:23328685G>C	ENST00000597761.2	+	4	1038	c.839G>C	c.(838-840)gGa>gCa	p.G280A		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATTCATACTGGAGAGAAACCC	0.343000													12	39					0	0	0.119110	0	0
KIAA0196	9897	broad.mit.edu	37	8	126096091	126096091	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:126096091C>G	ENST00000318410.7	-	2	399	c.50G>C	c.(49-51)aGg>aCg	p.R17T	KIAA0196_ENST00000521109.1_5'UTR|KIAA0196_ENST00000517845.1_Intron	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	17					cell death	WASH complex		p.R17T(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAACAATCCTTAGGATTGC	0.463000													18	19					0	0	0.055883	0	0
ZNF416	55659	broad.mit.edu	37	19	58083558	58083558	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:58083558G>A	ENST00000196489.3	-	4	1936	c.1714C>T	c.(1714-1716)Cac>Tac	p.H572Y		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCCACAGTGTGAGATTTTCGG	0.468000													70	319					0	0	0.139131	0	0
TULP4	56995	broad.mit.edu	37	6	158902136	158902136	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:158902136C>T	ENST00000367097.3	+	8	2658	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	TULP4_ENST00000367094.2_Missense_Mutation_p.S434L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	434					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTACCCATCAGCCGGCAAC	0.597000													28	165					0	0	0.173368	0	0
FCER2	2208	broad.mit.edu	37	19	7755301	7755301	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:7755301C>T	ENST00000346664.5	-	9	824	c.612G>A	c.(610-612)ccG>ccA	p.P204P	FCER2_ENST00000597921.1_Silent_p.P204P|FCER2_ENST00000360067.4_Silent_p.P203P	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	204	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCTGCTCCTCCGGGCTGTGGA	0.652000													42	82					0	0	0.139131	0	0
DARC	2532	broad.mit.edu	37	1	159175967	159175967	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:159175967G>T	ENST00000537147.1	+	3	1581	c.738G>T	c.(736-738)ctG>ctT	p.L246L	DARC_ENST00000368121.2_Silent_p.L248L|DARC_ENST00000368122.2_Silent_p.L246L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	246					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGAATATCCTGTGGGCCTGGT	0.537000													65	160					4.67498e-28	5.78089e-28	0.139131	1	0
DLC1	10395	broad.mit.edu	37	8	12957380	12957380	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:12957380G>T	ENST00000276297.4	-	9	2875	c.2466C>A	c.(2464-2466)ctC>ctA	p.L822L	DLC1_ENST00000512044.2_Silent_p.L419L|DLC1_ENST00000358919.2_Silent_p.L385L|DLC1_ENST00000520226.1_Silent_p.L311L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	822					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						TGCCATTGGTGAGAGCTTTGG	0.562000													7	147					8.12818e-05	8.52866e-05	0.029380	1	0
STX2	2054	broad.mit.edu	37	12	131283117	131283117	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:131283117T>C	ENST00000261653.6	-	9	905	c.739A>G	c.(739-741)Aaa>Gaa	p.K247E	STX2_ENST00000392373.2_Missense_Mutation_p.K247E	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	247	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GTTTCTTCTTTAGCGTGTTCT	0.338000													61	71					0	0	0.139131	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820795	162820795	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:162820795G>A	ENST00000375514.5	+	22	3243	c.2956G>A	c.(2956-2958)Gct>Act	p.A986T	SLC4A10_ENST00000446997.1_Missense_Mutation_p.A1005T|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A975T|SLC4A10_ENST00000421911.1_Missense_Mutation_p.A1005T|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A975T	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1005					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTTCAAGAGCTGCTATTGT	0.363000													17	47					0	0	0.055883	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511055	171511055	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:171511055G>T	ENST00000367742.3	+	16	4692	c.4450G>T	c.(4450-4452)Gat>Tat	p.D1484Y	PRRC2C_ENST00000338920.4_Missense_Mutation_p.D1482Y|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D1484Y|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D1482Y			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1482							protein C-terminus binding										TAAGACACCAGATTTATCTAA	0.408000													17	158					1.01871e-10	1.15307e-10	0.049695	1	0
DPM2	8818	broad.mit.edu	37	9	130699749	130699749	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:130699749G>A	ENST00000314392.8	-	2	720	c.57C>T	c.(55-57)atC>atT	p.I19I	RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Silent_p.I19I	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	19					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding			lung(1)	1						AGGTGAAGATGATCAGGCTAA	0.597000													15	29					0	0	0.175082	0	0
KIF1C	10749	broad.mit.edu	37	17	4926854	4926854	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:4926854G>A	ENST00000320785.5	+	23	3077	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	907					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCCAGTGACCGCATGCCGTCA	0.662000													4	60					0	0	0.150653	0	0
RYR2	6262	broad.mit.edu	37	1	237957196	237957196	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:237957196G>T	ENST00000366574.2	+	95	14129	c.13812G>T	c.(13810-13812)aaG>aaT	p.K4604N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4588N|RYR2_ENST00000360064.6_Missense_Mutation_p.K4610N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4604					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)			AGCGAGAAAAGGAAGTGGCAC	0.358000													4	52					0.150653	0.151975	0.150653	1	0
ARID2	196528	broad.mit.edu	37	12	46244727	46244727	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:46244727C>A	ENST00000334344.6	+	15	2993	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T	ARID2_ENST00000444670.1_Missense_Mutation_p.P551T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P792T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	941	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACTTATGCACCAGCCATTCA	0.468000			"""N, S, F"""		hepatocellular carcinoma								23	205					2.65835e-16	3.17126e-16	0.125774	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	118					0	0	0.014758	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093832	43093832	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:43093832C>G	ENST00000244336.5	-	3	581	c.480G>C	c.(478-480)aaG>aaC	p.K160N	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	160	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCACAGCATCCTTGTCCTCCA	0.557000													9	466					0	0	0.058154	0	0
HHIPL1	84439	broad.mit.edu	37	14	100135225	100135225	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:100135225C>G	ENST00000357223.2	+	8	1852	c.1787C>G	c.(1786-1788)tCa>tGa	p.S596*	HHIPL1_ENST00000330710.5_Intron	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN	HHIP-like 1	0					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GTGTGCagctcattgacgtct	0.622000													13	83					0	0	0.146539	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049557	36049557	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:36049557C>A	ENST00000379919.4	-	1	1275	c.719G>T	c.(718-720)aGa>aTa	p.R240I	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	240					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CATCTGCAGTCTGTTCTCTGC	0.577000													44	82					6.57855e-14	7.71972e-14	0.111260	1	0
ELAC2	60528	broad.mit.edu	37	17	12905673	12905673	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:12905673C>T	ENST00000338034.4	-	14	1461	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	ELAC2_ENST00000395962.2_Missense_Mutation_p.E389K|ELAC2_ENST00000426905.3_Missense_Mutation_p.E368K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	408					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGGGGCCCTCCTTCTGAAAG	0.572000													9	79					0	0	0.047766	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													12	210					0	0	0.093190	0	0
FSHR	2492	broad.mit.edu	37	2	49190745	49190745	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:49190745G>A	ENST00000406846.2	-	10	1334	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	FSHR_ENST00000541117.1_Silent_p.A141A|FSHR_ENST00000304421.4_Silent_p.A379A|FSHR_ENST00000346173.3_Silent_p.A343A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	405					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GATCAGCAAAGGCCAGGTTGC	0.463000									Gonadal Dysgenesis, 46 XX				52	175					0	0	0.139131	0	0
METTL2A	339175	broad.mit.edu	37	17	60504013	60504013	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:60504013G>C	ENST00000311506.5	+	3	592	c.556G>C	c.(556-558)Gag>Cag	p.E186Q		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	186							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CCGAATACTGGAGGTAACCTT	0.413000													5	26					0	0	0.029380	0	0
PLXNC1	10154	broad.mit.edu	37	12	94620960	94620960	+	Silent	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:94620960A>T	ENST00000258526.4	+	9	2178	c.1929A>T	c.(1927-1929)ggA>ggT	p.G643G		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	643					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						AGACATCAGGAGGAGGAAGAC	0.468000													37	96					0	0	0.069456	0	0
ESAM	90952	broad.mit.edu	37	11	124628319	124628319	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:124628319C>G	ENST00000278927.5	-	2	304	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	59	Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GAAGACACCTCCCCGTGCAAG	0.607000											OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0.021553	0	0
IL20RA	53832	broad.mit.edu	37	6	137325776	137325776	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:137325776C>G	ENST00000367748.1	-	5	1099	c.513G>C	c.(511-513)gaG>gaC	p.E171D	IL20RA_ENST00000541547.1_Missense_Mutation_p.E233D|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.E282D			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	282	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGGTGTTTCTCTTTGCCAA	0.413000													5	236					0	0	0.038147	0	0
NOD2	64127	broad.mit.edu	37	16	50745444	50745444	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:50745444G>T	ENST00000300589.2	+	4	1727	c.1622G>T	c.(1621-1623)cGg>cTg	p.R541L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	541	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGTCTTCTTCGGGGCCGCCTC	0.612000													12	64					5.16669e-11	5.87123e-11	0.080935	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077037	19077037	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:19077037G>T	ENST00000329773.2	-	2	1000	c.913C>A	c.(913-915)Cag>Aag	p.Q305K		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	305					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCAATGTCCTGCAGAGCCCTC	0.567000													24	166					1.66031e-10	1.87191e-10	0.091800	1	0
LIG4	3981	broad.mit.edu	37	13	108860946	108860946	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:108860946C>T	ENST00000356922.4	-	2	2943	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	LIG4_ENST00000405925.1_Missense_Mutation_p.E891K|LIG4_ENST00000442234.1_Missense_Mutation_p.E891K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	891	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACCCAACTTTCTTTTAGGATT	0.343000								Non-homologous end-joining					6	33					0	0	0.021553	0	0
GFRA1	2674	broad.mit.edu	37	10	117885020	117885020	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:117885020C>T	ENST00000439649.3	-	5	834	c.467G>A	c.(466-468)tGc>tAc	p.C156Y	GFRA1_ENST00000369236.1_Missense_Mutation_p.C156Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C161Y|GFRA1_ENST00000544592.1_Missense_Mutation_p.C40Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	161					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTCGAGGTTGCAGGCCTTCGC	0.562000													8	20					0	0	0.058154	0	0
SGSM1	129049	broad.mit.edu	37	22	25280126	25280126	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:25280126G>A	ENST00000400358.4	+	15	1659	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	SGSM1_ENST00000400359.4_Silent_p.L589L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	589						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						GACAGGGACTGACAGCCAGGA	0.562000													4	52					0	0	0.014758	0	0
HERC2	8924	broad.mit.edu	37	15	28375358	28375358	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:28375358G>A	ENST00000261609.7	-	83	12861	c.12753C>T	c.(12751-12753)gtC>gtT	p.V4251V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4251					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGATGGCGATGACTTTCTTCC	0.577000													41	197					0	0	0.098360	0	0
SI	6476	broad.mit.edu	37	3	164697167	164697167	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164697167C>G	ENST00000264382.3	-	48	5529	c.5467G>C	c.(5467-5469)Gaa>Caa	p.E1823Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1823	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1823*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGTTGATTTCTATTGGTTCT	0.313000										HNSCC(35;0.089)			6	279					0	0	0.047766	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578607	85578607	+	RNA	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:85578607G>T	ENST00000590707.1	+	0	330					NR_003719.2																						CCGACCCTTTGTCCAGCGAGA	0.512000													15	79					3.28513e-13	3.83154e-13	0.091800	1	0
THEMIS	387357	broad.mit.edu	37	6	128134122	128134122	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:128134122G>A	ENST00000368250.1	-	5	1925	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	THEMIS_ENST00000543064.1_Missense_Mutation_p.P555L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P520L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P555L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	555	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CGGAGGGCGAGGTGGGGGATG	0.493000													59	142					0	0	0.139131	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774000	140774000	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140774000G>A	ENST00000398604.2	+	1	1620	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGGACCCGCCCCTCAGCA	0.597000													45	26					0	0	0.139131	0	0
ANKS1B	56899	broad.mit.edu	37	12	100169438	100169438	+	Splice_Site	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:100169438C>A	ENST00000547776.2	-	7	848	c.847_splice	c.e7-1	p.E283_splice	ANKS1B_ENST00000329257.7_Splice_Site_p.E283_splice|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	283						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.E283E(1)		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)		CTTCTAAATACTCTGTGTGTA	0.333000													20	30					2.52088e-20	3.05803e-20	0.076483	1	0
TLN2	83660	broad.mit.edu	37	15	63055813	63055813	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:63055813C>T	ENST00000561311.1	+	39	5243	c.5013C>T	c.(5011-5013)aaC>aaT	p.N1671N	TLN2_ENST00000472902.1_Silent_p.N64N|TLN2_ENST00000306829.6_Silent_p.N1671N			Q9Y4G6	TLN2_HUMAN	talin 2	1671					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGGCATCAACCGGTGCATCC	0.612000													23	85					0	0	0.076483	0	0
CFAP221	200373	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:120397378C>A	ENST00000602047.1	+	22	2409	c.1297C>A	c.(1297-1299)Cac>Aac	p.H433N	PCDP1_ENST00000413369.3_Missense_Mutation_p.H719N			Q4G0U5	PCDP1_HUMAN		719						cilium	calmodulin binding					Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468000													26	105					1.17739e-12	1.36768e-12	0.108266	1	0
FPR2	2358	broad.mit.edu	37	19	52272445	52272445	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:52272445C>G	ENST00000598776.1	+	2	1306	c.534C>G	c.(532-534)ttC>ttG	p.F178L	FPR2_ENST00000598953.1_Missense_Mutation_p.F178L|FPR2_ENST00000340023.6_Missense_Mutation_p.F178L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	178					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTGTACTTTCAACTTTGCAT	0.483000													41	524					0	0	0.139131	0	0
OR2T4	127074	broad.mit.edu	37	1	248525484	248525484	+	Missense_Mutation	SNP	G	G	T	rs151201153	by1000genomes	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:248525484G>T	ENST00000366475.1	+	1	602	c.602G>T	c.(601-603)cGt>cTt	p.R201L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTTCCGTGGATCCCGG	0.493000													118	171					8.74965e-44	1.10572e-43	0.139131	1	0
CAPN5	726	broad.mit.edu	37	11	76823721	76823721	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:76823721C>T	ENST00000278559.3	+	4	573	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.F128F|CAPN5_ENST00000456580.2_Silent_p.F168F	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	128	Calpain catalytic.			FGEW -> LGM (in Ref. 1; AAC51869).	proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TCTGGCGCTTCGGGGAATGGG	0.602000													12	81					0	0	0.080935	0	0
ASRGL1	80150	broad.mit.edu	37	11	62105605	62105605	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:62105605C>A	ENST00000415229.2	+	2	371	c.156C>A	c.(154-156)gtC>gtA	p.V52V	ASRGL1_ENST00000301776.5_Silent_p.V52V|ASRGL1_ENST00000535727.1_5'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	52					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AGGGAGCTGTCGTCGCCCTGG	0.577000													4	16					0.00909568	0.00925667	0.150653	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21392104	21392104	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:21392104A>C	ENST00000256958.2	+	15	2153	c.2057A>C	c.(2056-2058)gAt>gCt	p.D686A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	686					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GCTGGGGCAGATAGTGAAACA	0.358000													79	106					0	0	0.139131	0	0
NLRP9	338321	broad.mit.edu	37	19	56244582	56244582	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:56244582G>T	ENST00000332836.2	-	2	642	c.615C>A	c.(613-615)gaC>gaA	p.D205E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	205	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACTCCGGCCAGTCCCTAGAGA	0.443000													20	49					1.40151e-16	1.67889e-16	0.055883	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769598	140769598	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140769598C>G	ENST00000519479.1	+	1	2147	c.2147C>G	c.(2146-2148)tCc>tGc	p.S716C	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_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)			CTGCGACGCTCCTCCAGCCCC	0.587000													45	110					0	0	0.139131	0	0
KLK12	43849	broad.mit.edu	37	19	51535285	51535285	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:51535285A>C	ENST00000525263.1	-	3	423	c.304T>G	c.(304-306)Tcg>Gcg	p.S102A	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.S102A|KLK12_ENST00000319590.4_Missense_Mutation_p.S102A			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	102	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TGGCTCGTCGAGGCTCCCAGG	0.682000													3	14					0	0	0.021553	0	0
FLG	2312	broad.mit.edu	37	1	152282538	152282538	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:152282538C>G	ENST00000368799.1	-	3	4859	c.4824G>C	c.(4822-4824)gaG>gaC	p.E1608D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1608	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCGCCTCTCAGAGTCTT	0.572000									Ichthyosis				21	110					0	0	0.076483	0	0
RPRD2	23248	broad.mit.edu	37	1	150445065	150445065	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:150445065C>T	ENST00000401000.4	+	10	3628	c.3563C>T	c.(3562-3564)tCt>tTt	p.S1188F	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S1214F			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1214							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGGCCATCATCTGCCCCACCT	0.522000													19	101					0	0	0.049695	0	0
RIPK3	11035	broad.mit.edu	37	14	24805446	24805446	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:24805446C>T	ENST00000216274.5	-	10	1710	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	498					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	p.E498K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTAGGGCCTTCTTGCGAACCT	0.552000													10	81					0	0	0.105934	0	0
BEND3	57673	broad.mit.edu	37	6	107390755	107390755	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:107390755T>G	ENST00000429433.2	-	5	2289	c.1640A>C	c.(1639-1641)gAg>gCg	p.E547A	BEND3_ENST00000369042.1_Missense_Mutation_p.E547A	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	547										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ACCGGGCACCTCGAAGTCAGG	0.642000													6	35					0	0	0.021553	0	0
HOXD8	3234	broad.mit.edu	37	2	176995386	176995386	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:176995386G>T	ENST00000313173.4	+	1	919	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98W|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98W|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	98					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)		CCACCCCGGCGGGGGCAGCCC	0.796000													5	13					0.00198382	0.00204426	0.029380	1	0
MACC1	346389	broad.mit.edu	37	7	20198442	20198442	+	Silent	SNP	G	G	A	rs149661432	by1000genomes	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:20198442G>A	ENST00000400331.5	-	5	1850	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	MACC1_ENST00000589011.1_Silent_p.L514L|MACC1_ENST00000332878.4_Silent_p.L514L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCAGATTCGAGAGTCTTTTTA	0.393000													29	324					0	0	0.163468	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767526	77767526	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:77767526A>T	ENST00000521891.2	+	10	8817	c.8369A>T	c.(8368-8370)gAg>gTg	p.E2790V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2745V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2764V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2745V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2745						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)			CCTCCTGCTGAGGCTGGGTAT	0.433000										HNSCC(33;0.089)			9	68					0	0	0.069234	0	0
MKX	283078	broad.mit.edu	37	10	28024265	28024265	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:28024265C>A	ENST00000375790.5	-	4	819	c.387G>T	c.(385-387)aaG>aaT	p.K129N	MKX_ENST00000419761.1_Missense_Mutation_p.K129N			Q8IYA7	MKX_HUMAN	mohawk homeobox	129					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GAACGGTATTCTTAAGCCGAC	0.363000													38	89					1.59361e-14	1.87387e-14	0.092188	1	0
ZNF217	7764	broad.mit.edu	37	20	52193223	52193223	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:52193223G>A	ENST00000371471.2	-	4	2505	c.2080C>T	c.(2080-2082)Ctt>Ttt	p.L694F	ZNF217_ENST00000302342.3_Missense_Mutation_p.L694F			O75362	ZN217_HUMAN	zinc finger protein 217	694					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)			CAATTGTGAAGAGCCCCCACG	0.418000													25	143					0	0	0.091800	0	0
KIF20B	9585	broad.mit.edu	37	10	91498223	91498223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:91498223C>T	ENST00000416354.1	+	20	3787	c.3715C>T	c.(3715-3717)Cag>Tag	p.Q1239*	KIF20B_ENST00000371728.3_Nonsense_Mutation_p.Q1209*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q1209*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q1169*			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1209					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						AGAACATCTTCAGGATTCTGT	0.303000													23	84					0	0	0.062417	0	0
KIAA0195	9772	broad.mit.edu	37	17	73481551	73481551	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:73481551C>G	ENST00000314256.7	+	3	461	c.67C>G	c.(67-69)Ctc>Gtc	p.L23V	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L33V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	23					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGAAGGCCCTCAGCGTCCT	0.647000													13	146					0	0	0.119110	0	0
TMEM66	51669	broad.mit.edu	37	8	29924396	29924396	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:29924396C>A	ENST00000256255.6	-	4	996	c.739G>T	c.(739-741)Ggc>Tgc	p.G247C	TMEM66_ENST00000545648.1_Missense_Mutation_p.G75C|TMEM66_ENST00000536273.1_Missense_Mutation_p.G75C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	247						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAAGCACTGCCAAAACCAGAA	0.398000													36	236					1.30998e-17	1.57912e-17	0.080422	1	0
UBN2	254048	broad.mit.edu	37	7	138969127	138969127	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:138969127G>C	ENST00000288561.8	+	15	3476	c.3227G>C	c.(3226-3228)gGg>gCg	p.G1076A	UBN2_ENST00000473989.2_Missense_Mutation_p.G1159A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1159	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGAACTGTTGGGAAGAACAGC	0.468000													12	64					0	0	0.105934	0	0
ZNF774	342132	broad.mit.edu	37	15	90903722	90903722	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:90903722C>G	ENST00000354377.3	+	4	845	c.659C>G	c.(658-660)tCa>tGa	p.S220*	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCGACAGCTCAACACTCATC	0.517000													64	88					0	0	0.139131	0	0
COL5A2	1290	broad.mit.edu	37	2	189906410	189906410	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:189906410C>G	ENST00000374866.3	-	50	3809	c.3535G>C	c.(3535-3537)Ggc>Cgc	p.G1179R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1179					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAACTGGGCCTGGAGGACCC	0.458000													23	117					0	0	0.069288	0	0
CD177	57126	broad.mit.edu	37	19	43859711	43859711	+	RNA	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:43859711C>A	ENST00000378009.4	+	0	421				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GAAGGCTGAGCAGGTTGACTC	0.498000													17	14					3.41278e-10	3.83271e-10	0.160694	1	0
MSL1	339287	broad.mit.edu	37	17	38285736	38285736	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:38285736C>T	ENST00000398532.3	+	3	1546	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MSL1_ENST00000578648.1_Missense_Mutation_p.P411S|MSL1_ENST00000577454.1_Missense_Mutation_p.P411S|MSL1_ENST00000579565.1_Missense_Mutation_p.P148S			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	411					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CAGCACCCATCCCAAGGAGAA	0.522000													8	38					0	0	0.047766	0	0
KIAA1586	57691	broad.mit.edu	37	6	56918096	56918096	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:56918096G>C	ENST00000370733.4	+	4	1006	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	KIAA1586_ENST00000545356.1_Missense_Mutation_p.E240Q	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	267							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCTGATATTGAGGGGGCAAG	0.289000													6	43					0	0	0.029380	0	0
TNC	3371	broad.mit.edu	37	9	117840266	117840266	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:117840266C>A	ENST00000350763.4	-	7	3041	c.2630G>T	c.(2629-2631)aGa>aTa	p.R877I	TNC_ENST00000346706.3_Missense_Mutation_p.R877I|TNC_ENST00000341037.4_Missense_Mutation_p.R877I|TNC_ENST00000423613.2_Missense_Mutation_p.R877I|TNC_ENST00000537320.1_Missense_Mutation_p.R877I|TNC_ENST00000535648.1_Missense_Mutation_p.R877I|TNC_ENST00000542877.1_Missense_Mutation_p.R877I|TNC_ENST00000345230.3_Missense_Mutation_p.R877I|TNC_ENST00000340094.3_Missense_Mutation_p.R877I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	877	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATGTCACCTCTGCGGGAGAT	0.502000													47	142					1.30916e-28	1.62235e-28	0.139131	1	0
KDR	3791	broad.mit.edu	37	4	55948765	55948765	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:55948765C>T	ENST00000263923.4	-	28	3995	c.3700G>A	c.(3700-3702)Gtg>Atg	p.V1234M	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1234					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTACACTCACAGGCCGGCTC	0.353000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	192					0	0	0.132662	0	0
NELFCD	51497	broad.mit.edu	37	20	57565000	57565000	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:57565000G>A	ENST00000602795.1	+	7	847	c.799G>A	c.(799-801)Gtg>Atg	p.V267M	NELFCD_ENST00000344018.3_Missense_Mutation_p.V258M					negative elongation factor complex member C/D																		GGGCTCCGCTGTGCGCAGGAT	0.612000													65	78					0	0	0.139131	0	0
OR2C3	81472	broad.mit.edu	37	1	247695360	247695360	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:247695360C>T	ENST00000366487.3	-	2	815	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTCAGACCCCCCAGCCAGGAG	0.567000													13	27					0	0	0.105934	0	0
LARS2	23395	broad.mit.edu	37	3	45565506	45565506	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:45565506C>T	ENST00000415258.1	+	19	2451	c.2310C>T	c.(2308-2310)gtC>gtT	p.V770V	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Silent_p.V770V|LARS2_ENST00000414984.1_Silent_p.V727V			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	770					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTCAGAGCGTCATTCTCCACA	0.478000													13	70					0	0	0.119110	0	0
ABCB1	5243	broad.mit.edu	37	7	87174182	87174182	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:87174182C>A	ENST00000265724.3	-	17	2438	c.2021G>T	c.(2020-2022)gGa>gTa	p.G674V	ABCB1_ENST00000543898.1_Missense_Mutation_p.G610V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	674					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G674A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTTGTGATCCACGGACACT	0.413000													32	184					3.11337e-16	3.7064e-16	0.173368	1	0
ENOX2	10495	broad.mit.edu	37	X	129801717	129801717	+	Splice_Site	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:129801717C>T	ENST00000338144.3	-	9	1199		c.e9-1		ENOX2_ENST00000394363.1_Splice_Site|ENOX2_ENST00000370927.1_Splice_Site|ENOX2_ENST00000370935.1_Splice_Site	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2						cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTGGAATCATCTGAAAAAAAT	0.403000													63	41					0	0	0.139131	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121558	44121558	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:44121558C>T	ENST00000259746.9	+	21	2271	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	TMEM63B_ENST00000323267.6_Silent_p.L696L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	696						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCTGGCTGCTCTTCTTTTCCA	0.637000													12	69					0	0	0.132662	0	0
NDST2	8509	broad.mit.edu	37	10	75566094	75566094	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:75566094G>A	ENST00000299641.4	-	7	1988	c.1018C>T	c.(1018-1020)Ctc>Ttc	p.L340F	NDST2_ENST00000309979.6_Missense_Mutation_p.L463F	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	463	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCAGGGCGGAGATGGGGATAC	0.557000													18	90					0	0	0.049695	0	0
COL5A3	50509	broad.mit.edu	37	19	10114756	10114756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:10114756G>T	ENST00000264828.3	-	5	745	c.660C>A	c.(658-660)taC>taA	p.Y220*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	220	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGTCGGGGAGGTACCGCTCAC	0.607000													5	65					0.000602214	0.000625042	0.014758	1	0
NUDT9	53343	broad.mit.edu	37	4	88344162	88344162	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:88344162C>G	ENST00000302174.4	+	1	429	c.105C>G	c.(103-105)ttC>ttG	p.F35L	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	35						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TCCAGGCGTTCAGGTATTCCA	0.582000													29	66					0	0	0.069456	0	0
KDR	3791	broad.mit.edu	37	4	55953884	55953884	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:55953884C>G	ENST00000263923.4	-	27	3847	c.3552G>C	c.(3550-3552)ttG>ttC	p.L1184F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1184					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCCATGCTCAAAGTCTCTG	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			30	260					0	0	0.134883	0	0
OR5D14	219436	broad.mit.edu	37	11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55563770C>A	ENST00000335605.1	+	1	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453000													7	100					8.12818e-05	8.52866e-05	0.029380	1	0
PDE5A	8654	broad.mit.edu	37	4	120474861	120474861	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:120474861A>T	ENST00000354960.3	-	8	1559	c.1240T>A	c.(1240-1242)Tat>Aat	p.Y414N	PDE5A_ENST00000394439.1_Missense_Mutation_p.Y362N|PDE5A_ENST00000264805.5_Missense_Mutation_p.Y372N	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	414	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TTTTTGACATACTGAGCATAC	0.358000													33	59					0	0	0.069456	0	0
ABCB5	340273	broad.mit.edu	37	7	20721220	20721220	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:20721220G>A	ENST00000404938.2	+	15	2452	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	ABCB5_ENST00000258738.6_Silent_p.L155L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	155	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGAATGCTGGCGGAGAAAG	0.438000													21	155					0	0	0.062417	0	0
KIAA1009	22832	broad.mit.edu	37	6	84913699	84913699	+	Splice_Site	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:84913699C>A	ENST00000403245.3	-	7	801	c.687_splice	c.e7+1	p.Q229_splice	KIAA1009_ENST00000257766.4_Splice_Site_p.Q153_splice	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	229					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATATATATACCTGTTTGGGCA	0.338000													24	67					1.9806e-07	2.16099e-07	0.069288	1	0
CNTN5	53942	broad.mit.edu	37	11	99827588	99827588	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:99827588G>C	ENST00000524871.1	+	8	1014	c.724G>C	c.(724-726)Gac>Cac	p.D242H	CNTN5_ENST00000527185.1_Missense_Mutation_p.D242H|CNTN5_ENST00000418526.2_Missense_Mutation_p.D168H|CNTN5_ENST00000279463.3_Missense_Mutation_p.D242H|CNTN5_ENST00000528682.1_Missense_Mutation_p.D242H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	242	Ig-like C2-type 2.				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)		TGTGGCGGAAGACAGCCGGCG	0.393000													13	117					0	0	0.132662	0	0
OR2G3	81469	broad.mit.edu	37	1	247769000	247769000	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:247769000C>A	ENST00000320002.2	+	1	145	c.113C>A	c.(112-114)aCc>aAc	p.T38N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TACCTCCTGACCCTTGTGGGA	0.443000													13	480					1.5842e-08	1.75514e-08	0.105934	1	0
IQGAP2	10788	broad.mit.edu	37	5	75858224	75858224	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:75858224G>T	ENST00000274364.6	+	3	447	c.150G>T	c.(148-150)tgG>tgT	p.W50C	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	50	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCTTTAGGTGGATGGAAGTTT	0.408000													6	37					0.00116845	0.00121055	0.021553	1	0
MCCC1	56922	broad.mit.edu	37	3	182812357	182812357	+	Silent	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:182812357T>A	ENST00000265594.4	-	2	272	c.126A>T	c.(124-126)acA>acT	p.T42T	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	42					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTGGCTGTTGTGTACTTCA	0.348000													29	176					0	0	0.173368	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122360	12122360	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:12122360G>A	ENST00000379388.2	+	4	2664	c.2332G>A	c.(2332-2334)Gga>Aga	p.G778R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	778					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAAGACGAGGAAGCATTGA	0.428000													26	120					0	0	0.083992	0	0
CFH	3075	broad.mit.edu	37	1	196694299	196694299	+	Missense_Mutation	SNP	G	G	A	rs138890387		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:196694299G>A	ENST00000367429.4	+	12	1985	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	582	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTCCTGATCGCAAGAAAGAC	0.348000													21	133					0	0	0.055883	0	0
HOXC6	3223	broad.mit.edu	37	12	54423644	54423644	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:54423644C>T	ENST00000394331.3	+	3	2070	c.360C>T	c.(358-360)ctC>ctT	p.L120L	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Silent_p.L202L|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	202					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AATCTAATCTCACATCCACTC	0.577000													22	42					0	0	0.076483	0	0
PRTG	283659	broad.mit.edu	37	15	55970089	55970089	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:55970089G>T	ENST00000389286.4	-	8	1334	c.1287C>A	c.(1285-1287)acC>acA	p.T429T		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	429	Fibronectin type-III 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGCTTGACATGGTTTCAGCAT	0.433000													16	97					2.35188e-11	2.69389e-11	0.175082	1	0
HTR3E	285242	broad.mit.edu	37	3	183824454	183824454	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:183824454C>A	ENST00000415389.2	+	9	1810	c.1344C>A	c.(1342-1344)atC>atA	p.I448I	HTR3E_ENST00000425359.2_Silent_p.I433I|HTR3E_ENST00000436361.2_Silent_p.I448I|HTR3E_ENST00000440596.2_Silent_p.I474I|HTR3E_ENST00000335304.2_Silent_p.I463I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	448						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTCTATCATCACCGTCATAT	0.587000													50	449					2.14255e-21	2.62679e-21	0.139131	1	0
PRMT7	54496	broad.mit.edu	37	16	68379639	68379639	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:68379639G>C	ENST00000339507.5	+	10	1819	c.989G>C	c.(988-990)gGc>gCc	p.G330A	PRMT7_ENST00000449359.3_Missense_Mutation_p.G280A|PRMT7_ENST00000348497.4_Missense_Mutation_p.G256A|PRMT7_ENST00000441236.1_Missense_Mutation_p.G280A			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	330					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GTGGTGCAGGGCTCAGCGCTC	0.597000													26	170					0	0	0.117977	0	0
NPR1	4881	broad.mit.edu	37	1	153655927	153655927	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:153655927T>C	ENST00000368680.3	+	6	1811	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	447					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCCCCTGGGGTACCCTCCTCC	0.577000													7	24					0	0	0.029380	0	0
PTPRG	5793	broad.mit.edu	37	3	61989164	61989164	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:61989164C>T	ENST00000474889.1	+	4	889	c.512C>T	c.(511-513)cCt>cTt	p.P171L	PTPRG_ENST00000295874.10_Missense_Mutation_p.P171L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	171	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGGAGGTTTCCTGTTGAGGTG	0.488000													17	99					0	0	0.146539	0	0
OR5F1	338674	broad.mit.edu	37	11	55761919	55761919	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55761919G>C	ENST00000278409.1	-	1	182	c.183C>G	c.(181-183)ttC>ttG	p.F61L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGCCAGGAAGAAATACATGG	0.403000													12	135					0	0	0.080935	0	0
DARS2	55157	broad.mit.edu	37	1	173799891	173799891	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:173799891G>C	ENST00000361951.4	+	4	1115	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	130					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGCAGGACAAGAGAATCCAGT	0.448000													11	85					0	0	0.080935	0	0
DDX31	64794	broad.mit.edu	37	9	135521367	135521367	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:135521367C>A	ENST00000372159.3	-	13	1761	c.1610G>T	c.(1609-1611)aGc>aTc	p.S537I	DDX31_ENST00000310532.2_Missense_Mutation_p.S537I|DDX31_ENST00000438527.3_Missense_Mutation_p.S408I|DDX31_ENST00000372153.1_Missense_Mutation_p.S537I	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	537	Helicase C-terminal.					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)		CGCCCCTGAGCTGCTCAGCAG	0.547000													17	15					0.00741294	0.00758441	0.043863	1	0
NDN	4692	broad.mit.edu	37	15	23931653	23931653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:23931653C>A	ENST00000331837.4	-	1	797	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	238	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGGACGAACTCCTCAGTGATG	0.617000									Prader-Willi syndrome				8	57					5.16669e-11	5.87123e-11	0.080935	1	0
CDH19	28513	broad.mit.edu	37	18	64197151	64197151	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:64197151G>A	ENST00000262150.2	-	9	1681	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	CDH19_ENST00000540086.1_Silent_p.I463I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	463	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATGATCATTGATGTTAAGAA	0.318000													19	103					0	0	0.076483	0	0
LAMA4	3910	broad.mit.edu	37	6	112535187	112535187	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:112535187G>T	ENST00000431543.2	-	4	636	c.382C>A	c.(382-384)Cca>Aca	p.P128T	LAMA4_ENST00000524032.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000230538.7_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTCATGTTGGAGCCCTGGCT	0.498000													32	190					3.90053e-15	4.61482e-15	0.163468	1	0
ZBTB16	7704	broad.mit.edu	37	11	114121118	114121118	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:114121118G>T	ENST00000335953.4	+	7	2243	c.1863G>T	c.(1861-1863)ctG>ctT	p.L621L	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.L621L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	621					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCAAGCACCTGAGAACGCACA	0.617000													44	333					4.53422e-39	5.69252e-39	0.139131	1	0
STARD3	10948	broad.mit.edu	37	17	37809961	37809961	+	Silent	SNP	C	C	T	rs150342077	byFrequency	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:37809961C>T	ENST00000336308.5	+	2	395	c.177C>T	c.(175-177)ttC>ttT	p.F59F	STARD3_ENST00000394250.4_Silent_p.F59F|STARD3_ENST00000544210.2_Silent_p.F59F|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Silent_p.F59F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	59	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGTCACCTTCGACCTGCTCT	0.617000											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	44					0	0	0.038147	0	0
UBE2G2	7327	broad.mit.edu	37	21	46197310	46197310	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr21:46197310C>G	ENST00000345496.2	-	4	418	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.E22Q	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	50					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		ACACCAAACTCAAAGCAGGTG	0.413000													21	30					0	0	0.062417	0	0
SLC35F6	54978	broad.mit.edu	37	2	26999280	26999280	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:26999280C>G	ENST00000344420.5	+	5	638	c.576C>G	c.(574-576)atC>atG	p.I192M	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.I109M|SLC35F6_ENST00000482746.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		TCGTTGCCATCCAGATGGTGC	0.597000													9	83					0	0	0.058154	0	0
SCN3A	6328	broad.mit.edu	37	2	165971983	165971983	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:165971983C>T	ENST00000360093.3	-	19	3987	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1166K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1117K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1166						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)	AAACAAGCTTCCGGTTTAAGG	0.388000													19	142					0	0	0.055883	0	0
SI	6476	broad.mit.edu	37	3	164793793	164793793	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164793793C>A	ENST00000264382.3	-	2	70	c.8G>T	c.(7-9)aGa>aTa	p.R3I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	3					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATTTCTTTCTTGCCATCTA	0.254000										HNSCC(35;0.089)			15	172					1.49906e-05	1.5874e-05	0.119110	1	0
ASB2	51676	broad.mit.edu	37	14	94401096	94401096	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:94401096C>T	ENST00000555019.1	-	10	2244	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ASB2_ENST00000315988.4_Missense_Mutation_p.R557Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	557					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AATGGCCTTTCGAACCCGCAG	0.488000													21	56					0	0	0.069288	0	0
TNC	3371	broad.mit.edu	37	9	117791725	117791725	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:117791725C>T	ENST00000350763.4	-	25	6494	c.6083G>A	c.(6082-6084)aGa>aAa	p.R2028K	TNC_ENST00000346706.3_Missense_Mutation_p.R1482K|TNC_ENST00000341037.4_Missense_Mutation_p.R1846K|TNC_ENST00000423613.2_Missense_Mutation_p.R1755K|TNC_ENST00000537320.1_Missense_Mutation_p.R1391K|TNC_ENST00000535648.1_Missense_Mutation_p.R1573K|TNC_ENST00000542877.1_Missense_Mutation_p.R1665K|TNC_ENST00000345230.3_Missense_Mutation_p.R1391K|TNC_ENST00000340094.3_Missense_Mutation_p.R1664K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2028	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTTTTGCGTCTCAGGAACAC	0.488000													32	183					0	0	0.173368	0	0
FBXL17	64839	broad.mit.edu	37	5	107216863	107216863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:107216863G>A	ENST00000542267.1	-	8	2246	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	FBXL17_ENST00000496714.1_Nonsense_Mutation_p.R216*|FBXL17_ENST00000359660.5_Nonsense_Mutation_p.R216*	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	614										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ATGCTGTATCGCCCAATGGCT	0.448000													24	125					0	0	0.091800	0	0
ENPP2	5168	broad.mit.edu	37	8	120608147	120608147	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:120608147C>T	ENST00000259486.6	-	12	1117	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTCTTTTCTTTGGAGGAG	0.443000													39	106					0	0	0.086207	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906589	164906589	+	Missense_Mutation	SNP	T	T	A	rs149449605		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164906589T>A	ENST00000475390.1	-	2	2473	c.2030A>T	c.(2029-2031)tAc>tTc	p.Y677F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y677F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	677						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCGGAGCACGTAGGCAAAGAG	0.532000										HNSCC(40;0.11)			125	153					0	0	0.139131	0	0
EP400	57634	broad.mit.edu	37	12	132498364	132498364	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:132498364G>A	ENST00000333577.4	+	20	4046	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K	EP400_ENST00000332482.4_Missense_Mutation_p.E1240K|EP400_ENST00000330386.6_Missense_Mutation_p.E1277K|EP400_ENST00000389561.2_Missense_Mutation_p.E1277K|EP400_ENST00000389562.2_Missense_Mutation_p.E1276K			Q96L91	EP400_HUMAN	E1A binding protein p400	1313	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGAGATGTGGAAAAGCAACT	0.378000													7	186					0	0	0.038147	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230315	140230315	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140230315G>T	ENST00000378122.3	+	1	2959	c.2235G>T	c.(2233-2235)gtG>gtT	p.V745V	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V745V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGCGCGGTGGGGAGTTGGT	0.647000													12	75					1.3612e-06	1.46572e-06	0.132662	1	0
WWC1	23286	broad.mit.edu	37	5	167833266	167833266	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:167833266G>C	ENST00000265293.4	+	6	1156	c.654G>C	c.(652-654)ttG>ttC	p.L218F	WWC1_ENST00000521089.1_Missense_Mutation_p.L218F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	218					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGCTGTCTTGAGAGAAACAA	0.428000													54	348					0	0	0.139131	0	0
SUV420H1	51111	broad.mit.edu	37	11	67941312	67941312	+	Silent	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:67941312T>A	ENST00000304363.4	-	6	965	c.612A>T	c.(610-612)tcA>tcT	p.S204S	SUV420H1_ENST00000405515.1_Silent_p.S204S|SUV420H1_ENST00000402789.1_Silent_p.S204S|SUV420H1_ENST00000402185.2_Silent_p.S181S|SUV420H1_ENST00000401547.2_Silent_p.S204S	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	204	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGTTCTGATGAGTATCTAT	0.279000													21	45					0	0	0.099896	0	0
FBN1	2200	broad.mit.edu	37	15	48756110	48756110	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:48756110C>T	ENST00000316623.5	-	41	5506	c.5051G>A	c.(5050-5052)gGa>gAa	p.G1684E		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1684	EGF-like 28; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		gcaattatttcccccattcac	0.453000													12	66					0	0	0.080935	0	0
LCTL	197021	broad.mit.edu	37	15	66853559	66853559	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:66853559C>T	ENST00000341509.5	-	5	706	c.575G>A	c.(574-576)cGt>cAt	p.R192H	LCTL_ENST00000537670.1_Missense_Mutation_p.R19H	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	192					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGCTTCACACGGTCCCCAAA	0.557000													5	196					0	0	0.014758	0	0
DMTF1	9988	broad.mit.edu	37	7	86800322	86800322	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:86800322G>C	ENST00000394703.5	+	7	807	c.244G>C	c.(244-246)Gat>Cat	p.D82H	DMTF1_ENST00000394702.3_Missense_Mutation_p.D82H|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.D82H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.D41H|DMTF1_ENST00000331242.7_Missense_Mutation_p.D82H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	82	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TTCAGAAAATGATCAGAGCTT	0.363000													8	45					0	0	0.038147	0	0
MYO5A	4644	broad.mit.edu	37	15	52611478	52611478	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:52611478C>T	ENST00000399231.3	-	38	5181	c.4938G>A	c.(4936-4938)ttG>ttA	p.L1646L	MYO5A_ENST00000553916.1_Silent_p.L1644L|MYO5A_ENST00000358212.6_Silent_p.L1671L|MYO5A_ENST00000356338.6_Silent_p.L1619L|MYO5A_ENST00000399233.2_Silent_p.L1643L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1646	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCGCTTTCTCAACCCTGTGG	0.537000													21	151					0	0	0.049695	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378979	114378979	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:114378979G>A	ENST00000312719.5	-	5	1671	c.483C>T	c.(481-483)atC>atT	p.I161I	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I161I|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	161					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCTCCTCTGTGATAAAATATG	0.388000													82	430					0	0	0.139131	0	0
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:79804359C>T	ENST00000331483.4	-	7	1224	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTCTGCCGTCAGCTCCTCCG	0.632000													6	30					0	0	0.021553	0	0
A1CF	29974	broad.mit.edu	37	10	52566514	52566514	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:52566514C>T	ENST00000395489.2	-	15	2135	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	A1CF_ENST00000373997.3_Missense_Mutation_p.R579Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R587Q|A1CF_ENST00000374001.1_Missense_Mutation_p.R579Q|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.R587Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R587Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R532Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	587					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.R587Q(2)|p.R579Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCCATCCCCTCGGGCAGTCAC	0.418000													15	144					0	0	0.175082	0	0
HDAC4	9759	broad.mit.edu	37	2	240066313	240066313	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:240066313G>T	ENST00000345617.3	-	8	1622	c.831C>A	c.(829-831)gtC>gtA	p.V277V	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.V246V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	277	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTAGAGCAGTGACCACTGGCC	0.577000													6	85					0.000157383	0.000164238	0.038147	1	0
TIE1	7075	broad.mit.edu	37	1	43766752	43766752	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:43766752C>T	ENST00000372476.3	+	1	89	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TIE1_ENST00000538015.1_Missense_Mutation_p.R4W|TIE1_ENST00000441333.2_Missense_Mutation_p.R4W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	4					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TATGGTCTGGCGGGTGCCCCC	0.622000													14	21					0	0	0.132662	0	0
MYOF	26509	broad.mit.edu	37	10	95072853	95072853	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:95072853G>C	ENST00000371501.4	-	51	5935	c.5813C>G	c.(5812-5814)gCc>gGc	p.A1938G	MYOF_ENST00000371502.4_Missense_Mutation_p.A1928G|MYOF_ENST00000358334.5_Missense_Mutation_p.A1925G|MYOF_ENST00000359263.4_Missense_Mutation_p.A1938G			Q9NZM1	MYOF_HUMAN	myoferlin	1938					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGAGGGAGGCTGTCTTGGC	0.502000													68	360					0	0	0.139131	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990031	56990031	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:56990031C>T	ENST00000371250.3	-	3	1044	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	165					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGGCTGAAATCAGGGTTGCAG	0.527000													21	349					0	0	0.062417	0	0
ZNF382	84911	broad.mit.edu	37	19	37117865	37117865	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:37117865G>T	ENST00000435416.1	+	3	2558	c.1063G>T	c.(1063-1065)Gat>Tat	p.D355Y	ZNF382_ENST00000439428.1_Missense_Mutation_p.D355Y|ZNF382_ENST00000423582.1_Missense_Mutation_p.D307Y|ZNF382_ENST00000292928.2_Missense_Mutation_p.D356Y			Q96SR6	ZN382_HUMAN	zinc finger protein 382	356	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TATTTGTATCGATTGTGGGAA	0.473000													117	130					9.44819e-66	1.20193e-65	0.139131	1	0
PCDH15	65217	broad.mit.edu	37	10	56106178	56106178	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:56106178C>T	ENST00000373965.2	-	6	935	c.541G>A	c.(541-543)Gat>Aat	p.D181N	PCDH15_ENST00000373957.3_Missense_Mutation_p.D159N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D181N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D181N|PCDH15_ENST00000395440.1_Missense_Mutation_p.D181N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D181N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D159N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D181N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D186N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.D181N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D181N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D181N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D181N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D181N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D181N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	181	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTCCATCATCTATATCT	0.323000										HNSCC(58;0.16)			27	187					0	0	0.144211	0	0
LAMC1	3915	broad.mit.edu	37	1	183072671	183072671	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:183072671C>T	ENST00000258341.4	+	2	884	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	209	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATGAATTCAGTGACATTT	0.537000													7	62					0	0	0.029380	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869835	151869835	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:151869835G>A	ENST00000329342.5	+	3	750	c.525G>A	c.(523-525)gtG>gtA	p.V175V		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	175	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCCACGTGTACATCTTTG	0.527000													4	70					0	0	0.150653	0	0
DUOX1	53905	broad.mit.edu	37	15	45426448	45426448	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:45426448C>G	ENST00000321429.4	+	5	655	c.248C>G	c.(247-249)tCa>tGa	p.S83*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.S83*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	83	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACACCATCTCAAGGGGCCCT	0.632000													11	35					0	0	0.093190	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996456	140996456	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:140996456C>T	ENST00000285879.4	+	4	3552	c.3266C>T	c.(3265-3267)gCc>gTc	p.A1089V	MAGEC1_ENST00000406005.2_Missense_Mutation_p.A156V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1089	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTTTGGCCATGCTAAAG	0.463000										HNSCC(15;0.026)			5	255					0	0	0.021553	0	0
PAX6	5080	broad.mit.edu	37	11	31823248	31823248	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:31823248C>A	ENST00000419022.1	-	7	728	c.260G>T	c.(259-261)gGt>gTt	p.G87V	PAX6_ENST00000379123.5_Missense_Mutation_p.G73V|PAX6_ENST00000379111.2_Missense_Mutation_p.G73V|PAX6_ENST00000379107.2_Missense_Mutation_p.G87V|PAX6_ENST00000379115.4_Missense_Mutation_p.G87V|PAX6_ENST00000241001.8_Missense_Mutation_p.G73V|PAX6_ENST00000379132.3_Missense_Mutation_p.G73V|PAX6_ENST00000379129.2_Missense_Mutation_p.G87V	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	73	Paired.		I -> K (in AN).|I -> R (in AN; loss of activity).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGTTTACTACCACCGATTGC	0.498000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				17	84					2.94398e-08	3.24289e-08	0.043863	1	0
OSBPL11	114885	broad.mit.edu	37	3	125313607	125313607	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:125313607G>C	ENST00000296220.5	-	1	327	c.38C>G	c.(37-39)tCg>tGg	p.S13W		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTCGCTCTCCGAGACTTTCAT	0.562000													5	43					0	0	0.021553	0	0
GABRG2	2566	broad.mit.edu	37	5	161569278	161569278	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:161569278C>A	ENST00000356592.3	+	7	1338	c.878C>A	c.(877-879)tCt>tAt	p.S293Y	GABRG2_ENST00000414552.2_Missense_Mutation_p.S333Y|GABRG2_ENST00000393933.4_Missense_Mutation_p.S198Y|GABRG2_ENST00000361925.4_Missense_Mutation_p.S293Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	293					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCTGGGTGTCTTTCTGGATC	0.423000													14	518					6.72482e-11	7.62677e-11	0.132662	1	0
CCDC108	255101	broad.mit.edu	37	2	219885896	219885896	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:219885896G>T	ENST00000341552.5	-	19	3320	c.3237C>A	c.(3235-3237)acC>acA	p.T1079T	CCDC108_ENST00000441968.1_Silent_p.T1079T|CCDC108_ENST00000453220.1_Silent_p.T1079T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1079						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGAGAGTAGGTGATGGTCC	0.617000													4	19					0.00909568	0.00925667	0.150653	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110432765	110432765	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:110432765T>A	ENST00000378402.5	+	23	2647	c.2543T>A	c.(2542-2544)cTt>cAt	p.L848H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	848					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGAGAAGACTTCCTGCATTA	0.333000										HNSCC(38;0.096)			17	33					0	0	0.146539	0	0
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:3835383G>C	ENST00000428216.2	+	2	240	c.112G>C	c.(112-114)Gac>Cac	p.D38H	MAVS_ENST00000358134.6_Missense_Mutation_p.D38H|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527000													17	99					0	0	0.055883	0	0
RYR3	6263	broad.mit.edu	37	15	33831598	33831598	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:33831598G>A	ENST00000389232.4	+	6	551	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RYR3_ENST00000415757.3_Missense_Mutation_p.E161K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	161					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)		ACAGAGGTCCGAAGGAGAGAA	0.458000													3	20					0	0	0.115264	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932259	75932259	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:75932259G>C	ENST00000262207.4	+	12	1657	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.E211Q|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.E209Q	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	397	LCCL 2.					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)			TGTGACTTGTGAAACAACTGT	0.403000													39	127					0	0	0.092188	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919520	21919520	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:21919520G>C	ENST00000240662.2	-	3	757	c.412C>G	c.(412-414)Caa>Gaa	p.Q138E	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	138						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ATGGTAACTTGAACTTCAATG	0.408000													11	97					0	0	0.080935	0	0
ECT2	1894	broad.mit.edu	37	3	172501634	172501634	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:172501634G>C	ENST00000417960.1	+	16	2044	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ECT2_ENST00000540509.1_Missense_Mutation_p.E555Q|ECT2_ENST00000441497.2_Missense_Mutation_p.E524Q|ECT2_ENST00000427830.1_Missense_Mutation_p.E524Q|ECT2_ENST00000392692.3_Missense_Mutation_p.E555Q|ECT2_ENST00000232458.5_Missense_Mutation_p.E524Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	524	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAACTTCTTTGAAATGAGCAA	0.299000													10	353					0	0	0.069234	0	0
CCSER1	401145	broad.mit.edu	37	4	91230572	91230572	+	Silent	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:91230572A>G	ENST00000509176.1	+	2	1425	c.1137A>G	c.(1135-1137)ttA>ttG	p.L379L	CCSER1_ENST00000432775.2_Silent_p.L379L|CCSER1_ENST00000333691.8_Silent_p.L379L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATATAGGGTTACAAAATGGTG	0.403000													34	75					0	0	0.069456	0	0
RABGGTB	5876	broad.mit.edu	37	1	76260291	76260291	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:76260291G>A	ENST00000319942.3	+	9	1023	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.E144K	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	318					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CATGCCTGAAGAAGTGCTTCA	0.368000													5	203					0	0	0.029380	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894927	86894927	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:86894927C>G	ENST00000376238.4	-	16	1840	c.1791G>C	c.(1789-1791)gcG>gcC	p.A597A	SLC28A3_ENST00000537648.1_Silent_p.A528A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	597					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGTCCCCGCAATCAGAG	0.572000													9	34					0	0	0.058154	0	0
BRF2	55290	broad.mit.edu	37	8	37707163	37707163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:37707163C>A	ENST00000220659.6	-	1	259	c.139G>T	c.(139-141)Gag>Tag	p.E47*	BRF2_ENST00000520601.1_Nonsense_Mutation_p.E47*|BRF2_ENST00000521170.1_Nonsense_Mutation_p.E47*	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	47					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AGATTGCCCTCGTCGCTGAAG	0.617000													9	45					3.86212e-05	4.06725e-05	0.069234	1	0
C10orf120	399814	broad.mit.edu	37	10	124457744	124457744	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:124457744C>G	ENST00000329446.4	-	3	544	c.513G>C	c.(511-513)atG>atC	p.M171I		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	171										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GAGCAAGCCTCATCCTCTCTA	0.502000													42	191					0	0	0.139131	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540011	133540011	+	Missense_Mutation	SNP	G	G	T	rs112873686		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:133540011G>T	ENST00000409261.1	-	14	4746	c.4373C>A	c.(4372-4374)gCg>gAg	p.A1458E	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1458E|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1458							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCATCAGTCGCGGTTGCAGA	0.502000													16	41					3.32936e-07	3.61887e-07	0.175082	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576655	158576655	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:158576655C>G	ENST00000361284.1	+	1	427	c.427C>G	c.(427-429)Cag>Gag	p.Q143E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTCTGTGCCCAGCTGGTCAT	0.498000													66	149					0	0	0.139131	0	0
TEX13A	56157	broad.mit.edu	37	X	104464212	104464212	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:104464212C>G	ENST00000372578.3	-	3	777	c.666G>C	c.(664-666)tgG>tgC	p.W222C	TEX13A_ENST00000413579.1_Missense_Mutation_p.E222Q|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.W222C|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AACTGGGTCTCCATGGGGGCA	0.622000													6	31					0	0	0.021553	0	0
MYRIP	25924	broad.mit.edu	37	3	40291725	40291725	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:40291725G>C	ENST00000302541.6	+	14	2617	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.E670Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.E572Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.E694Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.E759Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	759	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTCAGATATTGAGAGCCGGAT	0.403000													3	97					0	0	0.150653	0	0
TEP1	7011	broad.mit.edu	37	14	20850472	20850472	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:20850472A>T	ENST00000262715.5	-	29	4224	c.4184T>A	c.(4183-4185)cTg>cAg	p.L1395Q	TEP1_ENST00000556935.1_Missense_Mutation_p.L1287Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1395	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGCTGCAGCAGCAGGGGGAC	0.612000													15	66					0	0	0.160694	0	0
SYNE1	23345	broad.mit.edu	37	6	152464792	152464792	+	Missense_Mutation	SNP	G	G	A	rs147814237		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:152464792G>A	ENST00000367255.5	-	138	25686	c.25085C>T	c.(25084-25086)aCg>aTg	p.T8362M	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T7974M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8314M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T517M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T540M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8362M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8314M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2886M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8362					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)		CTCCGGCCCCGTGGGAGTTTT	0.507000										HNSCC(10;0.0054)			157	380					0	0	0.139131	0	0
ROBO4	54538	broad.mit.edu	37	11	124764190	124764190	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:124764190C>T	ENST00000306534.3	-	8	1710	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	ROBO4_ENST00000533054.1_Missense_Mutation_p.A264T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	409	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ATATGGGTGGCGATTTCCAGC	0.592000													12	61					0	0	0.119110	0	0
ITSN2	50618	broad.mit.edu	37	2	24475348	24475348	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:24475348C>G	ENST00000355123.4	-	25	3429	c.2986G>C	c.(2986-2988)Gaa>Caa	p.E996Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E969Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E996Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	996	SH3 3.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCAGGTTCCACACTTGAA	0.363000													24	224					0	0	0.076483	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174463	72174463	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:72174463C>T	ENST00000537465.1	-	6	813	c.655G>A	c.(655-657)Gat>Aat	p.D219N	PMFBP1_ENST00000237353.10_Missense_Mutation_p.D219N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.D74N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	219										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGAATGATCACCCTTGTTC	0.393000													84	332					0	0	0.139131	0	0
HPS4	89781	broad.mit.edu	37	22	26862054	26862054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:26862054C>T	ENST00000398141.1	-	8	707	c.708G>A	c.(706-708)tgG>tgA	p.W236*	HPS4_ENST00000402105.3_Intron|HPS4_ENST00000336873.5_Intron|HPS4_ENST00000398145.2_Intron			Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	236					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTTGAAGCTCCATAACATCC	0.418000									Hermansky-Pudlak syndrome				6	29					0	0	0.021553	0	0
EPHA3	2042	broad.mit.edu	37	3	89448578	89448578	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:89448578C>A	ENST00000336596.2	+	7	1767	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	EPHA3_ENST00000494014.1_Silent_p.A514A|EPHA3_ENST00000452448.2_Silent_p.A514A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	514	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCCGAACAGCCGCTGGATATG	0.463000										TSP Lung(6;0.00050)			25	42					7.26314e-15	8.558e-15	0.125774	1	0
TRIP10	9322	broad.mit.edu	37	19	6751307	6751307	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:6751307G>C	ENST00000596758.1	+	14	1752	c.1752G>C	c.(1750-1752)ctG>ctC	p.L584L	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_3'UTR|TRIP10_ENST00000313244.9_3'UTR|TRIP10_ENST00000600428.1_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	0	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CTTTATTTCTGACCCCGTGGC	0.627000													4	26					0	0	0.014758	0	0
HDAC2	3066	broad.mit.edu	37	6	114277315	114277315	+	Splice_Site	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:114277315G>A	ENST00000519065.1	-	5	735	c.358_splice	c.e5-1	p.A120_splice	HDAC2_ENST00000519108.1_Splice_Site_p.A90_splice|HDAC2_ENST00000368632.2_Splice_Site_p.A90_splice|HDAC2_ENST00000398283.2_Splice_Site_p.A214_splice			Q92769	HDAC2_HUMAN	histone deacetylase 2	120	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CACAGCTCCAGCTAAGAAGTA	0.368000													21	93					0	0	0.099896	0	0
FOXL2	668	broad.mit.edu	37	3	138665213	138665213	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:138665213C>G	ENST00000330315.3	-	1	769	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	118					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CCGCCGCCCTCGCGCGGCACC	0.612000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						4	32					0	0	0.038147	0	0
FCGBP	8857	broad.mit.edu	37	19	40406007	40406007	+	Silent	SNP	C	C	A	rs145297830	byFrequency	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:40406007C>A	ENST00000221347.6	-	10	4846	c.4839G>T	c.(4837-4839)gcG>gcT	p.A1613A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1613	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCTTTACCCGCATGGCACG	0.642000													32	40					1.62565e-12	1.88078e-12	0.163468	1	0
FLT1	2321	broad.mit.edu	37	13	28903844	28903844	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:28903844T>A	ENST00000282397.4	-	19	2866	c.2615A>T	c.(2614-2616)tAc>tTc	p.Y872F	FLT1_ENST00000540678.1_Missense_Mutation_p.Y90F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	872	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CAGAGCTTTGTACTCGCTGGC	0.567000													4	36					0	0	0.150653	0	0
MRPL53	116540	broad.mit.edu	37	2	74699368	74699368	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:74699368G>A	ENST00000258105.7	-	3	878	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	MRPL53_ENST00000409710.1_Missense_Mutation_p.S35L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	73						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						ATAATCAGGCGATGCCCGTCT	0.682000													18	55					0	0	0.160694	0	0
BRD8	10902	broad.mit.edu	37	5	137480931	137480931	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:137480931G>A	ENST00000254900.5	-	25	3743	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1124	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATGGACTGCTGAACCTGTTAA	0.483000													29	197					0	0	0.144211	0	0
FAM49A	81553	broad.mit.edu	37	2	16740726	16740726	+	Splice_Site	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:16740726A>C	ENST00000381323.3	-	10	1058		c.e10+1		FAM49A_ENST00000406434.1_Splice_Site|FAM49A_ENST00000355549.2_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AACTATTCTTACATCGATCTT	0.488000													4	275					0	0	0.150653	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795247	142795247	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:142795247G>C	ENST00000370498.1	-	2	1184	c.431C>G	c.(430-432)tCt>tGt	p.S144C		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	144										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCTTCAGATGAGTCCAG	0.522000													153	752					0	0	0.139131	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230316	140230316	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140230316G>C	ENST00000378122.3	+	1	2960	c.2236G>C	c.(2236-2238)Ggg>Cgg	p.G746R	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G746R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGCGGTGGGGAGTTGGTC	0.652000													11	76					0	0	0.119110	0	0
XAB2	56949	broad.mit.edu	37	19	7685330	7685330	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:7685330C>T	ENST00000358368.4	-	16	2134	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	XAB2_ENST00000534844.1_Silent_p.T696T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	699					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCGCCGGTCGTCTGCGTGG	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					4	31					0	0	0.014758	0	0
KCTD7	154881	broad.mit.edu	37	7	66270236	66270236	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:66270236G>A	ENST00000380828.2	+	10	1204	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	KCTD7_ENST00000510829.2_Silent_p.A310A|RABGEF1_ENST00000439720.2_Silent_p.A323A|RABGEF1_ENST00000450873.2_Silent_p.A310A|RABGEF1_ENST00000437078.2_Silent_p.A324A|KCTD7_ENST00000451741.2_Silent_p.A310A|RABGEF1_ENST00000284957.5_Silent_p.A310A|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ATGAGCCGGCGTCAGCGGATG	0.517000													7	175					0	0	0.038147	0	0
MYO10	4651	broad.mit.edu	37	5	16699618	16699618	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:16699618C>T	ENST00000513610.1	-	26	3951	c.3497G>A	c.(3496-3498)cGt>cAt	p.R1166H	MYO10_ENST00000505695.1_Missense_Mutation_p.R505H|MYO10_ENST00000515803.1_Missense_Mutation_p.R505H|MYO10_ENST00000274203.9_Missense_Mutation_p.R523H|MYO10_ENST00000427430.2_Missense_Mutation_p.R523H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1166					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						CACAGAGTCACGCCGGTATGA	0.493000													34	104					0	0	0.163468	0	0
AGAP3	116988	broad.mit.edu	37	7	150825706	150825706	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:150825706G>C	ENST00000397238.2	+	10	1261	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	AGAP3_ENST00000463381.1_Missense_Mutation_p.E193Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	385	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTGAACAAGGAGTGGAAGAA	0.572000													4	20					0	0	0.150653	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43483098	43483098	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:43483098C>T	ENST00000532038.1	-	2	544	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E337K|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E337K|ARHGAP27_ENST00000455881.1_5'UTR|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.E337K|ARHGAP27_ENST00000528384.1_5'UTR|ARHGAP27_ENST00000376922.2_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	337					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AACTCCTCCTCGGGCTCGTTC	0.692000													15	33					0	0	0.175082	0	0
CD163L1	283316	broad.mit.edu	37	12	7527343	7527343	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:7527343C>T	ENST00000313599.3	-	13	3161	c.3104G>A	c.(3103-3105)cGg>cAg	p.R1035Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1045Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1035Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1035						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						TAGGCGGAGCCGTTTGTCCTC	0.512000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	33					0	0	0.134883	0	0
FAM63B	54629	broad.mit.edu	37	15	59064338	59064338	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:59064338C>T	ENST00000559228.1	+	1	826	c.744C>T	c.(742-744)atC>atT	p.I248I	FAM63B_ENST00000450403.2_Silent_p.I248I			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	248										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCAAGTGGATCCAGTGGAAGG	0.572000													6	42					0	0	0.021553	0	0
MECOM	2122	broad.mit.edu	37	3	168833862	168833862	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:168833862C>G	ENST00000464456.1	-	7	2434	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	MECOM_ENST00000494292.1_Missense_Mutation_p.D600H|MECOM_ENST00000472280.1_Missense_Mutation_p.D413H|MECOM_ENST00000460814.1_Missense_Mutation_p.D412H|MECOM_ENST00000468789.1_Missense_Mutation_p.D412H|MECOM_ENST00000264674.3_Missense_Mutation_p.D477H|MECOM_ENST00000433243.2_Missense_Mutation_p.D413H|MECOM_ENST00000392736.3_Missense_Mutation_p.D412H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCAGATCAGAGCCCGAG	0.408000													24	363					0	0	0.083992	0	0
HERC2	8924	broad.mit.edu	37	15	28458894	28458894	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:28458894C>T	ENST00000261609.7	-	42	6888	c.6780G>A	c.(6778-6780)ctG>ctA	p.L2260L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2260					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTACTGGTTTCAGCTGATTCA	0.473000													4	136					0	0	0.150653	0	0
GRID1	2894	broad.mit.edu	37	10	87482852	87482852	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:87482852G>A	ENST00000327946.7	-	12	1990	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	GRID1_ENST00000536331.1_Silent_p.G206G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	635						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCCACCAGCTGCCCATCACGA	0.572000										Multiple Myeloma(13;0.14)			12	45					0	0	0.080935	0	0
ZNF239	8187	broad.mit.edu	37	10	44052872	44052872	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:44052872C>A	ENST00000306006.6	-	2	1308	c.656G>T	c.(655-657)aGc>aTc	p.S219I	ZNF239_ENST00000535642.1_Missense_Mutation_p.S219I|ZNF239_ENST00000374446.2_Missense_Mutation_p.S219I|ZNF239_ENST00000426961.1_Missense_Mutation_p.S219I	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAGCTCTGAGCTTTGACTGAA	0.433000													15	172					0.000422831	0.000439653	0.146539	1	0
FAT1	2195	broad.mit.edu	37	4	187539602	187539602	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:187539602G>C	ENST00000441802.2	-	10	8347	c.8138C>G	c.(8137-8139)tCa>tGa	p.S2713*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2713	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGTCCTCTGACACTGTAAA	0.413000										HNSCC(5;0.00058)			48	103					0	0	0.139131	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908111	164908111	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164908111G>A	ENST00000475390.1	-	2	951	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	170						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAGGTTCCGAAATGCCCCA	0.388000										HNSCC(40;0.11)			25	465					0	0	0.083992	0	0
SLC7A8	23428	broad.mit.edu	37	14	23598916	23598916	+	Silent	SNP	C	C	A	rs35143650		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:23598916C>A	ENST00000316902.7	-	9	1931	c.1206G>T	c.(1204-1206)acG>acT	p.T402T	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Silent_p.T178T|SLC7A8_ENST00000529705.2_Silent_p.T297T|SLC7A8_ENST00000453702.1_Silent_p.T199T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	402					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	p.T402T(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTCCAGCAACCGTGACCCCAT	0.542000													116	574					3.60366e-59	4.57418e-59	0.139131	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766554	77766554	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:77766554C>G	ENST00000521891.2	+	10	7845	c.7397C>G	c.(7396-7398)tCt>tGt	p.S2466C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2421C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2440C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2421C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2421						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)			CCCTCGGCCTCTCAAACACCG	0.537000										HNSCC(33;0.089)			8	60					0	0	0.038147	0	0
ILDR2	387597	broad.mit.edu	37	1	166888575	166888575	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:166888575G>T	ENST00000469934.2	-	9	1477	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR			Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	0						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCATTATCCAGAGAAATGTTG	0.453000													7	31					0.00198382	0.00204426	0.029380	1	0
C11orf87	399947	broad.mit.edu	37	11	109294448	109294448	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:109294448G>T	ENST00000327419.6	+	2	492	c.89G>T	c.(88-90)aGc>aTc	p.S30I	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	30						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCAGCGGCAGCGGCAACACG	0.692000													13	24					7.45023e-12	8.56776e-12	0.055883	1	0
PCDH9	5101	broad.mit.edu	37	13	67800889	67800889	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:67800889C>A	ENST00000544246.1	-	2	2375	c.1684G>T	c.(1684-1686)Gtt>Ttt	p.V562F	PCDH9_ENST00000456367.1_Missense_Mutation_p.V562F|PCDH9_ENST00000377861.3_Missense_Mutation_p.V562F|PCDH9_ENST00000377865.2_Missense_Mutation_p.V562F|PCDH9_ENST00000328454.5_Missense_Mutation_p.V562F	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATCCAGAACAGTAACAATC	0.418000													18	188					4.35082e-09	4.85771e-09	0.055883	1	0
GSS	2937	broad.mit.edu	37	20	33533875	33533875	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:33533875G>C	ENST00000216951.2	-	3	254	c.156C>G	c.(154-156)ctC>ctG	p.L52L	GSS_ENST00000451957.2_Silent_p.L52L|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	52					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567000													37	302					0	0	0.086207	0	0
C5orf28	64417	broad.mit.edu	37	5	43454051	43454051	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:43454051C>G	ENST00000500337.2	-	4	352	c.21G>C	c.(19-21)aaG>aaC	p.K7N	C5orf28_ENST00000397080.3_Missense_Mutation_p.K7N|C5orf28_ENST00000512085.1_Missense_Mutation_p.K7N|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000511525.1_Intron			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	7						integral to membrane		p.K7N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAGCATGGGTCTTTTCAGTCT	0.423000													51	108					0	0	0.139131	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587554	48587554	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:48587554G>A	ENST00000232375.3	-	2	323	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	PFKFB4_ENST00000545984.1_Missense_Mutation_p.R71W|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R37W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R60W|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R71W|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R71W	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GCCTCACCCCGAGTGGGCACA	0.562000													20	90					0	0	0.076483	0	0
TAF2	6873	broad.mit.edu	37	8	120801062	120801062	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:120801062C>A	ENST00000378164.2	-	13	1949	c.1651G>T	c.(1651-1653)Gac>Tac	p.D551Y		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	551					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GATGTATAGTCCTGTTTTATT	0.368000													26	191					7.41945e-09	8.23588e-09	0.108266	1	0
ZNF431	170959	broad.mit.edu	37	19	21366647	21366647	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:21366647G>C	ENST00000311048.7	+	5	1685	c.1541G>C	c.(1540-1542)tGt>tCt	p.C514S	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTACAAATGTGAAGAATGT	0.343000													17	53					0	0	0.160694	0	0
NFIX	4784	broad.mit.edu	37	19	13186483	13186483	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:13186483C>A	ENST00000358552.3	+	5	950	c.950C>A	c.(949-951)gCa>gAa	p.A317E	NFIX_ENST00000587760.1_Missense_Mutation_p.A310E|NFIX_ENST00000397661.2_Missense_Mutation_p.A318E|NFIX_ENST00000360105.4_Missense_Mutation_p.A321E|NFIX_ENST00000587260.1_Missense_Mutation_p.A317E|NFIX_ENST00000588228.1_Missense_Mutation_p.A271E|NFIX_ENST00000585575.1_Missense_Mutation_p.A310E|NFIX_ENST00000592199.1_Missense_Mutation_p.A318E			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	318					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GATGTGGATGCAGGTATGGGT	0.622000													4	22					5.18039e-06	5.52639e-06	0.038147	1	0
NME7	29922	broad.mit.edu	37	1	169272408	169272408	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:169272408C>G	ENST00000367811.3	-	5	671	c.415G>C	c.(415-417)Gat>Cat	p.D139H	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.D103H	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	139					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GACTGGTGATCTACATGAAAA	0.284000													4	29					0	0	0.014758	0	0
FLT1	2321	broad.mit.edu	37	13	28896409	28896409	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:28896409G>A	ENST00000282397.4	-	22	3292	c.3041C>T	c.(3040-3042)tCt>tTt	p.S1014F	FLT1_ENST00000540678.1_Missense_Mutation_p.S232F|FLT1_ENST00000543394.1_Missense_Mutation_p.S37F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1014	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTTCTGGAAGACAGGAACTC	0.423000													14	118					0	0	0.146539	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65346683	65346683	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:65346683C>G	ENST00000284037.5	+	20	2365	c.1976C>G	c.(1975-1977)tCt>tGt	p.S659C	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S659C|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S659C|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S659C|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S659C|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S659C|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S655C|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S659C|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S659C	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	659					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGCAATTGTTCTTCTCCATCT	0.328000													28	120					0	0	0.134883	0	0
IFI6	2537	broad.mit.edu	37	1	27994970	27994970	+	Splice_Site	SNP	T	T	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:27994970T>G	ENST00000361157.6	-	3	274	c.148_splice	c.e3+1	p.G49_splice	IFI6_ENST00000362020.4_Splice_Site_p.G53_splice|IFI6_ENST00000339145.4_Splice_Site_p.G57_splice	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	49					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGACCCACCTCCTCCGACGG	0.667000													7	36					0	0	0.058154	0	0
GLIS3	169792	broad.mit.edu	37	9	3829339	3829339	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:3829339C>T	ENST00000324333.10	-	9	2355	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R876K	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	721					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGAGAAGGCTCTGTGGAAAAC	0.542000													21	78					0	0	0.055883	0	0
CDH11	1009	broad.mit.edu	37	16	65032487	65032487	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:65032487G>T	ENST00000394156.3	-	4	954	c.501C>A	c.(499-501)aaC>aaA	p.N167K	CDH11_ENST00000566827.1_Missense_Mutation_p.N41K|CDH11_ENST00000268603.4_Missense_Mutation_p.N167K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTCAGGCACGTTGGCATGAT	0.587000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			70	369					1.68946e-44	2.13974e-44	0.139131	1	0
CEACAM7	1087	broad.mit.edu	37	19	42190929	42190929	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:42190929G>T	ENST00000006724.3	-	2	489	c.288C>A	c.(286-288)caC>caA	p.H96Q	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.H96Q|CEACAM7_ENST00000338196.4_Missense_Mutation_p.H96Q|CEACAM7_ENST00000602225.1_Missense_Mutation_p.H96Q	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	96	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCGACCGTTGTGTGCGGGCC	0.443000													9	343					1.58986e-06	1.70873e-06	0.069234	1	0
GGN	199720	broad.mit.edu	37	19	38877429	38877429	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:38877429G>C	ENST00000334928.6	-	3	605	c.473C>G	c.(472-474)cCg>cGg	p.P158R	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	158	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGGGCCCTCGGGACAGTGTC	0.692000													11	88					0	0	0.093190	0	0
KIF21B	23046	broad.mit.edu	37	1	200977926	200977926	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:200977926C>G	ENST00000332129.2	-	3	734	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.E140Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.E140Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.E140Q	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	140	Kinesin-motor.				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						ACTTTGAACTCAGGTCCAGCC	0.652000													46	219					0	0	0.139131	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308953	74308953	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:74308953C>T	ENST00000446526.3	-	9	1442	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.E230K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	304					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGACCTCGTCTACGGAG	0.453000													39	55					0	0	0.092188	0	0
SPTBN4	57731	broad.mit.edu	37	19	41029413	41029413	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:41029413C>A	ENST00000352632.3	+	17	3810	c.3724C>A	c.(3724-3726)Cgt>Agt	p.R1242S	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1242S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1242S|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1242S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1242S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1242					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAAACAGCACCGTGACTTTCT	0.627000													21	220					3.62473e-10	4.06281e-10	0.062417	1	0
ZNF254	9534	broad.mit.edu	37	19	24289400	24289400	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:24289400G>C	ENST00000357002.4	+	3	323	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.E70Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	70	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACAAGGGAAAGAGCCCTGGAA	0.418000													18	128					0	0	0.055883	0	0
SI	6476	broad.mit.edu	37	3	164733773	164733773	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164733773T>C	ENST00000264382.3	-	32	3917	c.3855A>G	c.(3853-3855)atA>atG	p.I1285M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1285	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTCTCCTCTTATTTTGTCAA	0.388000										HNSCC(35;0.089)			84	679					0	0	0.139131	0	0
FAM117B	150864	broad.mit.edu	37	2	203630379	203630379	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:203630379C>T	ENST00000303116.6	+	8	1672	c.930C>T	c.(928-930)tcC>tcT	p.S310S	FAM117B_ENST00000392238.2_Silent_p.S554S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	554										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTGTGGCCTCCCTGTCTACAA	0.542000													31	79					0	0	0.139131	0	0
C10orf2	56652	broad.mit.edu	37	10	102749166	102749166	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:102749166G>T	ENST00000370228.1	+	1	1384	c.1199G>T	c.(1198-1200)cGt>cTt	p.R400L	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R400L	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	400	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GACCTCAATCGTATCTTGAAG	0.517000													13	81					2.31682e-05	2.44435e-05	0.132662	1	0
MYH8	4626	broad.mit.edu	37	17	10303934	10303934	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:10303934G>A	ENST00000403437.2	-	27	3602	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1170					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1170W(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCAGCCTCCCGCTTCTTGTTC	0.582000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	212					0	0	0.153744	0	0
TMC2	117532	broad.mit.edu	37	20	2597915	2597915	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:2597915C>A	ENST00000358864.1	+	16	2153	c.2138C>A	c.(2137-2139)aCc>aAc	p.T713N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	713						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGGCCTACACCATCATGTCC	0.622000													11	76					0.00316338	0.00324811	0.132662	1	0
TRDN	10345	broad.mit.edu	37	6	123539799	123539799	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:123539799C>T	ENST00000334268.4	-	40	2430	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	TRDN_ENST00000398178.3_Missense_Mutation_p.G713R			Q13061	TRDN_HUMAN	triadin	713					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.G713R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAGCTCTCTCCAGGGCGGTCT	0.448000													4	39					0	0	0.150653	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43213182	43213182	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:43213182C>A	ENST00000263245.5	-	11	1249	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.D272Y|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.D300Y	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	344					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCGTCACTGTCATCATTATAC	0.348000													16	99					2.23348e-06	2.396e-06	0.146539	1	0
MUC16	94025	broad.mit.edu	37	19	9073567	9073567	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:9073567C>G	ENST00000397910.4	-	3	14082	c.13879G>C	c.(13879-13881)Gtg>Ctg	p.V4627L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4629	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						ATAGCCCCCACAGACACATTG	0.463000													49	132					0	0	0.139131	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310742	75310742	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:75310742C>G	ENST00000562212.1	+	6	561	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	SCAMP5_ENST00000568081.1_Intron|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Intron|SCAMP5_ENST00000361900.6_Intron			Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	132					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CAGCCCCACACTGGCCTCTTC	0.577000													88	83					0	0	0.139131	0	0
ANKRD26	22852	broad.mit.edu	37	10	27322273	27322273	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:27322273C>T	ENST00000376087.4	-	25	3853	c.3688G>A	c.(3688-3690)Gat>Aat	p.D1230N	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D787N|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1246N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1229						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTAGGGTATCAGCTAGTTCT	0.299000													52	158					0	0	0.139131	0	0
INSL4	3641	broad.mit.edu	37	9	5233852	5233852	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:5233852G>A	ENST00000239316.4	+	2	500	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	132					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TGTGACGATGGAACTTCAGTT	0.368000													7	161					0	0	0.038147	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003366	23003366	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:23003366G>A	ENST00000312584.3	-	5	645	c.551C>T	c.(550-552)tCa>tTa	p.S184L		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	184					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ACTGGCAGCTGATTCATTTTT	0.537000													23	66					0	0	0.069288	0	0
USP9X	8239	broad.mit.edu	37	X	41075707	41075707	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:41075707G>C	ENST00000324545.7	+	35	6520	c.5887G>C	c.(5887-5889)Gat>Cat	p.D1963H	USP9X_ENST00000378308.2_Missense_Mutation_p.D1963H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1963					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGACCAAGATGATGAGTTGAT	0.398000													51	62					0	0	0.139131	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529897	80529897	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:80529897C>A	ENST00000295057.3	-	2	1704	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G350C|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	350	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACGTCCTCGCCCTGTGCGTAC	0.672000										HNSCC(69;0.2)			8	19					0.0381472	0.0385495	0.038147	1	0
ESPNP	284729	broad.mit.edu	37	1	17030590	17030590	+	RNA	SNP	G	G	A	rs590170	by1000genomes	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:17030590G>A	ENST00000492551.1	-	0	745					NR_026567.1																						CGGCTGCTTCGCCTCCAGCTC	0.617000													7	59					0	0	0.038147	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418042	4418042	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:4418042C>G	ENST00000301280.5	+	4	1087	c.986C>G	c.(985-987)tCt>tGt	p.S329C		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	329	Arg/Glu/Lys-rich.				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|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAAAGGCTCTACAGAGAAG	0.363000								Chromatin Structure					7	46					0	0	0.029380	0	0
NAV2	89797	broad.mit.edu	37	11	19905880	19905880	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:19905880T>G	ENST00000540292.1	+	7	604	c.604T>G	c.(604-606)Ttc>Gtc	p.F202V	NAV2_ENST00000527559.2_Missense_Mutation_p.F200V|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.F271V|NAV2_ENST00000349880.4_Intron			Q8IVL1	NAV2_HUMAN	neuron navigator 2	271	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AATCATCCGCTTCACTCTGGG	0.428000													119	192					0	0	0.139131	0	0
WDR62	284403	broad.mit.edu	37	19	36564349	36564349	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:36564349C>T	ENST00000401500.2	+	9	1184	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.I383I|WDR62_ENST00000388999.3_Silent_p.I383I	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	383					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCACAGCATCTACATCTGGG	0.567000													26	321					0	0	0.099896	0	0
ZP1	22917	broad.mit.edu	37	11	60641198	60641198	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:60641198G>T	ENST00000278853.5	+	9	1522	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	508	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATTCACTGTTGCTACCTTCGC	0.587000													10	72					4.3838e-07	4.74705e-07	0.105934	1	0
CATSPERG	57828	broad.mit.edu	37	19	38850164	38850164	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:38850164C>G	ENST00000409235.3	+	14	1666	c.1551C>G	c.(1549-1551)atC>atG	p.I517M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I477M|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	517					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AACTGTCCATCAAATACATGG	0.592000													11	175					0	0	0.093190	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490648	25490648	+	RNA	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:25490648T>A	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						GAACCTTCTATTGTCCTGAAG	0.512000													34	205					0	0	0.074837	0	0
IRGC	56269	broad.mit.edu	37	19	44223366	44223366	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:44223366C>T	ENST00000244314.5	+	2	855	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	219						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCCAACCTCTCGCCGGCCCGC	0.697000													8	17					0	0	0.038147	0	0
LTA	4049	broad.mit.edu	37	6	31540595	31540595	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:31540595C>A	ENST00000454783.1	+	2	334	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	LTA_ENST00000418386.2_Missense_Mutation_p.L26M	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	26					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GGGGCTGCTGCTGGTTCTGCT	0.617000													8	100					1.06961e-07	1.17148e-07	0.038147	1	0
SNTG2	54221	broad.mit.edu	37	2	1168845	1168845	+	Silent	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:1168845T>C	ENST00000308624.5	+	8	696	c.567T>C	c.(565-567)caT>caC	p.H189H	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	189					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCGGTTTGCATCTGAACGGAA	0.453000													74	618					0	0	0.139131	0	0
MYH4	4622	broad.mit.edu	37	17	10362640	10362640	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:10362640C>T	ENST00000255381.2	-	15	1625	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	505	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						TGCCTTCCTTCTTGTACTCTT	0.483000													137	152					0	0	0.139131	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260079	44260079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:44260079C>A	ENST00000315087.7	-	7	1717	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	ST8SIA5_ENST00000538168.1_Nonsense_Mutation_p.E389*|ST8SIA5_ENST00000536490.1_Nonsense_Mutation_p.E322*|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	353					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TTGAAGATCTCAGAGGGCATG	0.627000													6	184					0.00198382	0.00204426	0.029380	1	0
KIF2B	84643	broad.mit.edu	37	17	51901579	51901579	+	Silent	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:51901579T>C	ENST00000268919.4	+	1	1341	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	395	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGAGGTGTGTTGTGTGGAGG	0.507000													43	86					0	0	0.124865	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220354	193220354	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:193220354G>T	ENST00000342695.4	-	3	631	c.309C>A	c.(307-309)ctC>ctA	p.L103L	ATP13A4_ENST00000392443.3_Silent_p.L103L|ATP13A4_ENST00000295548.3_Silent_p.L103L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	103					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTCAGGAGTGAGACCAAATG	0.413000													29	433					1.17739e-12	1.36768e-12	0.108266	1	0
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:44060805C>T	ENST00000344290.5	+	6	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAAGAGAGGCCGGGGAGCAAG	0.692000													4	27					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:7578455C>G	ENST00000420246.2	-	5	607	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> 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.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		ATGGCCATGGCGCGGACGCGG	0.627000		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)			129	95					0	0	0.139131	0	0
SLC9A3	6550	broad.mit.edu	37	5	485292	485292	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:485292C>T	ENST00000264938.3	-	4	739	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	SLC9A3_ENST00000514375.1_Missense_Mutation_p.G244S	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	244						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)			CAGTCCACGCCAGTCACGTTG	0.607000													3	9					0	0	0.115264	0	0
SPRTN	83932	broad.mit.edu	37	1	231483582	231483582	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:231483582A>G	ENST00000391858.4	+	3	1641	c.361A>G	c.(361-363)Act>Gct	p.T121A	SPRTN_ENST00000008440.9_Intron|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000295050.7_Missense_Mutation_p.T121A					SprT-like N-terminal domain																		TTTATTTGTCACTAATAACGA	0.363000													36	115					0	0	0.183431	0	0
GPR139	124274	broad.mit.edu	37	16	20043222	20043222	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:20043222C>A	ENST00000570682.1	-	2	1197	c.897G>T	c.(895-897)acG>acT	p.T299T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	299						integral to membrane|plasma membrane		p.T299T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGCCTTGAGCGTGGCGGCTG	0.512000													34	139					1.07121e-22	1.31894e-22	0.092188	1	0
RELN	5649	broad.mit.edu	37	7	103207175	103207175	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:103207175C>T	ENST00000428762.1	-	32	4779	c.4620G>A	c.(4618-4620)ggG>ggA	p.G1540G	RELN_ENST00000343529.5_Silent_p.G1540G|RELN_ENST00000424685.2_Silent_p.G1540G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1540					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGAGTATCCCATTGTCAT	0.433000													6	126					0	0	0.021553	0	0
REN	5972	broad.mit.edu	37	1	204125889	204125889	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:204125889C>T	ENST00000367195.2	-	6	768	c.725G>A	c.(724-726)gGa>gAa	p.G242E	REN_ENST00000272190.8_Missense_Mutation_p.G245E			P00797	RENI_HUMAN	renin	245					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTCGCTGCCTCCCAGCACAAT	0.493000													15	141					0	0	0.132662	0	0
PTPRD	5789	broad.mit.edu	37	9	8341934	8341934	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:8341934A>T	ENST00000381196.4	-	37	5249	c.4706T>A	c.(4705-4707)aTg>aAg	p.M1569K	PTPRD_ENST00000540109.1_Missense_Mutation_p.M1569K|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1162K|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1159K|PTPRD_ENST00000397611.3_Missense_Mutation_p.M1159K|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1547K|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1163K|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1162K|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1569K|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1556K|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1162K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1569	Tyrosine-protein phosphatase 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)		TCTTTCTAACATGGCATCTAT	0.378000										TSP Lung(15;0.13)			14	178					0	0	0.105934	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537519	75537519	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:75537519G>C	ENST00000524913.1	+	2	732	c.243G>C	c.(241-243)cgG>cgC	p.R81R	ZC2HC1C_ENST00000238686.8_Silent_p.R81R|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Silent_p.R81R	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	81																	CAAAAGCCCGGAGCTACTCCT	0.463000													11	866					0	0	0.132662	0	0
CALU	813	broad.mit.edu	37	7	128399895	128399895	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:128399895A>G	ENST00000542996.2	+	6	1599	c.656A>G	c.(655-657)gAa>gGa	p.E219G	CALU_ENST00000249364.4_Missense_Mutation_p.E211G|CALU_ENST00000479257.1_Missense_Mutation_p.E219G|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.E60G|CALU_ENST00000449187.2_Missense_Mutation_p.E211G|CALU_ENST00000535011.2_Missense_Mutation_p.E211G	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	211	EF-hand 4.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						ATTGATCTAGAAGAGTATATT	0.378000													9	40					0	0	0.058154	0	0
LRRC52	440699	broad.mit.edu	37	1	165532800	165532800	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:165532800G>A	ENST00000294818.1	+	2	971	c.681G>A	c.(679-681)cgG>cgA	p.R227R	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	227	LRRCT.					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)					CCATCACCCGGGTGGGGAACC	0.557000													18	107					0	0	0.175082	0	0
CLDN16	10686	broad.mit.edu	37	3	190106128	190106128	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:190106128C>T	ENST00000264734.2	+	1	468	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	CLDN16_ENST00000456423.1_Missense_Mutation_p.L74F|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	74					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AATGAGGGATCTTCTTCAATA	0.512000													138	511					0	0	0.139131	0	0
POU3F3	5455	broad.mit.edu	37	2	105473259	105473259	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:105473259C>G	ENST00000361360.2	+	1	1291	c.1291C>G	c.(1291-1293)Ccc>Gcc	p.P431A	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	431					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGCCCCAAGCCCTCCGCGCA	0.642000													4	27					0	0	0.021553	0	0
C1orf192	257177	broad.mit.edu	37	1	161337657	161337657	+	Translation_Start_Site	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:161337657A>G	ENST00000367974.1	-	1	7	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	1										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTTAGTGGCCATGATCTTGTG	0.448000													41	138					0	0	0.139131	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186571979	186571979	+	Missense_Mutation	SNP	T	T	C	rs138835949		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:186571979T>C	ENST00000412955.2	+	3	362	c.221T>C	c.(220-222)aTt>aCt	p.I74T	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.I74T|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.I74T			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	74	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TTAGGTCTTATTGGTCCTAAG	0.527000													159	183					0	0	0.139131	0	0
CALCB	797	broad.mit.edu	37	11	15096643	15096643	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:15096643C>A	ENST00000523376.1	+	8	1418	c.156C>A	c.(154-156)ctC>ctA	p.L52L	CALCB_ENST00000533448.1_Silent_p.L41L|CALCB_ENST00000324229.6_Silent_p.L41L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	41					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CGGCCACACTCAGTAAAGAGG	0.622000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	114					2.22156e-40	2.80131e-40	0.139131	1	0
UAP1	6675	broad.mit.edu	37	1	162535800	162535800	+	Splice_Site	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:162535800A>T	ENST00000271469.3	+	2	245		c.e2-1		UAP1_ENST00000367926.4_Splice_Site			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTCTCTTTTAGGTTTACAGG	0.343000													36	80					0	0	0.183431	0	0
COL15A1	1306	broad.mit.edu	37	9	101749626	101749626	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:101749626G>C	ENST00000375001.3	+	4	1122	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	233	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTCCCGAGGAGCTGTGTGACC	0.647000													238	259					0	0	0.139131	0	0
TRHR	7201	broad.mit.edu	37	8	110100053	110100053	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:110100053C>A	ENST00000518632.1	+	2	663	c.312C>A	c.(310-312)ctC>ctA	p.L104L	TRHR_ENST00000311762.2_Silent_p.L104L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	104						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTACTTACCTCCAGTATTTGG	0.468000													95	258					2.58158e-40	3.24816e-40	0.139131	1	0
TOM1L1	10040	broad.mit.edu	37	17	52981101	52981101	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:52981101G>C	ENST00000575882.1	+	2	444	c.91G>C	c.(91-93)Gat>Cat	p.D31H	TOM1L1_ENST00000570371.1_Missense_Mutation_p.D31H|TOM1L1_ENST00000575333.1_Missense_Mutation_p.D31H|TOM1L1_ENST00000572405.1_5'UTR|TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000572158.1_Missense_Mutation_p.D31H|TOM1L1_ENST00000445275.2_Missense_Mutation_p.D31H|TOM1L1_ENST00000536554.1_Intron	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	31	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCAGACTGAAGATTGGGGCCA	0.413000													47	117					0	0	0.139131	0	0
LRRK2	120892	broad.mit.edu	37	12	40713922	40713922	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:40713922G>A	ENST00000298910.7	+	34	5018	c.4960G>A	c.(4960-4962)Gaa>Aaa	p.E1654K		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1654					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAGCTCCTAGAAAAATTCCA	0.333000											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	100					0	0	0.160694	0	0
DIDO1	11083	broad.mit.edu	37	20	61513176	61513176	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:61513176C>T	ENST00000266070.4	-	16	4457	c.4132G>A	c.(4132-4134)Gaa>Aaa	p.E1378K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1378K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1378					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTCCTCTTCCTCTAGAGCC	0.607000													4	13					0	0	0.150653	0	0
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:105472929G>T	ENST00000361360.2	+	1	961	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACGTCGGACGACCTGGAGCA	0.716000													10	23					3.07112e-06	3.28844e-06	0.080935	1	0
ZNF507	22847	broad.mit.edu	37	19	32843758	32843758	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:32843758G>A	ENST00000311921.3	+	2	214	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	ZNF507_ENST00000544431.1_Missense_Mutation_p.A8T|ZNF507_ENST00000355898.5_Missense_Mutation_p.A8T|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAGTGTTGCCATGTTGGT	0.353000													83	123					0	0	0.139131	0	0
BPTF	2186	broad.mit.edu	37	17	65928065	65928065	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:65928065G>C	ENST00000321892.4	+	20	6628	c.6567G>C	c.(6565-6567)gtG>gtC	p.V2189V	BPTF_ENST00000335221.5_Silent_p.V2189V|BPTF_ENST00000424123.3_Silent_p.V2050V|BPTF_ENST00000306378.6_Silent_p.V2063V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2189					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)			GTATGACCGTGATTAGAACAC	0.378000													5	124					0	0	0.029380	0	0
RAP2C	57826	broad.mit.edu	37	X	131351092	131351092	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:131351092C>G	ENST00000342983.2	-	2	951	c.205G>C	c.(205-207)Gat>Cat	p.D69H	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.D69H	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	69					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ATGTAGAGATCTCTCATGGAG	0.443000													28	75					0	0	0.116897	0	0
KATNBL1	79768	broad.mit.edu	37	15	34455870	34455870	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:34455870G>A	ENST00000256544.3	-	2	150	c.8C>T	c.(7-9)tCa>tTa	p.S3L		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		GTGGGTTTCTGATGCCATAAT	0.284000													10	59					0	0	0.146539	0	0
UNC80	285175	broad.mit.edu	37	2	210650795	210650795	+	Silent	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:210650795T>A	ENST00000439458.1	+	5	686	c.606T>A	c.(604-606)tcT>tcA	p.S202S	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Silent_p.S202S	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	202						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCTAGGAATCTGACCTCACCT	0.502000													51	137					0	0	0.139131	0	0
INPP4A	3631	broad.mit.edu	37	2	99156082	99156082	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:99156082C>G	ENST00000074304.5	+	10	1155	c.762C>G	c.(760-762)ctC>ctG	p.L254L	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.L254L|INPP4A_ENST00000523221.1_Silent_p.L254L|INPP4A_ENST00000409540.3_Silent_p.L254L|INPP4A_ENST00000409851.3_Silent_p.L254L|INPP4A_ENST00000409016.3_Silent_p.L254L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	254					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAGCGTGCTCTCCCTGCACG	0.572000													26	184					0	0	0.099896	0	0
TJAP1	93643	broad.mit.edu	37	6	43472676	43472676	+	Missense_Mutation	SNP	G	G	T	rs151036953		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:43472676G>T	ENST00000372444.2	+	11	1160	c.727G>T	c.(727-729)Ggg>Tgg	p.G243W	TJAP1_ENST00000259751.1_Missense_Mutation_p.G243W|TJAP1_ENST00000372452.1_Missense_Mutation_p.G243W|TJAP1_ENST00000438588.2_Missense_Mutation_p.G253W|TJAP1_ENST00000436109.2_Missense_Mutation_p.G243W|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.G253W|TJAP1_ENST00000372449.1_Missense_Mutation_p.G253W	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	253						Golgi apparatus|tight junction	protein binding	p.G243R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGCAGCGCCGGGCGCCCCTT	0.637000													33	86					2.68265e-12	3.09744e-12	0.173368	1	0
LNX2	222484	broad.mit.edu	37	13	28122551	28122551	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:28122551G>A	ENST00000316334.3	-	10	2123	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	665	PDZ 4.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AACTAGTGCAGAGTGGCTCAT	0.453000													14	43					0	0	0.119110	0	0
SGSM3	27352	broad.mit.edu	37	22	40804797	40804797	+	Splice_Site	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:40804797G>A	ENST00000248929.9	+	18	2042		c.e18-1		SGSM3_ENST00000454798.2_Splice_Site	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3						cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGTCCCCTCAGGTTGGATGAA	0.647000													27	100					0	0	0.099896	0	0
PIH1D2	120379	broad.mit.edu	37	11	111938705	111938705	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:111938705C>G	ENST00000280350.4	-	6	1060	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	PIH1D2_ENST00000532211.1_Missense_Mutation_p.E280Q|PIH1D2_ENST00000431456.1_Intron|PIH1D2_ENST00000528775.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	280										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTACTTCTCAGATACTTCA	0.308000													15	56					0	0	0.119110	0	0
AZU1	566	broad.mit.edu	37	19	828291	828291	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:828291C>G	ENST00000233997.2	+	2	141	c.120C>G	c.(118-120)ttC>ttG	p.F40L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	40	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		AGTTCCCGTTCCTGGCCTCCA	0.642000													3	5					0	0	0.021553	0	0
MACROD1	28992	broad.mit.edu	37	11	63767231	63767231	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:63767231G>T	ENST00000255681.6	-	6	735	c.669C>A	c.(667-669)gtC>gtA	p.V223V	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	223	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGTGTGGATGACGTCTACGG	0.701000													10	15					1.33987e-11	1.53778e-11	0.069234	1	0
DDX18	8886	broad.mit.edu	37	2	118572407	118572407	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:118572407C>G	ENST00000263239.2	+	1	182	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	18							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						AGCGGAACCTCAAATTGCGGC	0.582000											OREG0014916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	101					0	0	0.146539	0	0
SEC31A	22872	broad.mit.edu	37	4	83778205	83778205	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:83778205C>T	ENST00000432794.1	-	16	1944	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	SEC31A_ENST00000513858.1_Missense_Mutation_p.R555H|SEC31A_ENST00000505984.1_Missense_Mutation_p.R555H|SEC31A_ENST00000443462.2_Missense_Mutation_p.R589H|SEC31A_ENST00000508502.1_Missense_Mutation_p.R594H|SEC31A_ENST00000505472.1_Missense_Mutation_p.R594H|SEC31A_ENST00000355196.2_Missense_Mutation_p.R594H|SEC31A_ENST00000311785.7_Missense_Mutation_p.R594H|SEC31A_ENST00000395310.2_Missense_Mutation_p.R594H|SEC31A_ENST00000448323.1_Missense_Mutation_p.R594H|SEC31A_ENST00000508479.1_Missense_Mutation_p.R594H|SEC31A_ENST00000348405.4_Missense_Mutation_p.R555H|SEC31A_ENST00000264405.5_Missense_Mutation_p.R327H|SEC31A_ENST00000509142.1_Missense_Mutation_p.R594H|SEC31A_ENST00000500777.2_Missense_Mutation_p.R555H|SEC31A_ENST00000326950.5_Missense_Mutation_p.R555H			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	594					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATCGGCCATGCGGTTATCATG	0.413000													4	131					0	0	0.150653	0	0
CYP3A7	1551	broad.mit.edu	37	7	99303164	99303164	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:99303164G>C	ENST00000336374.2	-	13	1473	c.1471C>G	c.(1471-1473)Cta>Gta	p.L491V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	491					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCAGCCTTTAGAACAATGGGT	0.438000													5	201					0	0	0.014758	0	0
PREX2	80243	broad.mit.edu	37	8	68934323	68934323	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:68934323A>G	ENST00000288368.4	+	4	666	c.389A>G	c.(388-390)cAa>cGa	p.Q130R	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	130	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						GAGAAGGCACAAAAATTACTT	0.303000													33	112					0	0	0.163468	0	0
PDE1C	5137	broad.mit.edu	37	7	31890312	31890312	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:31890312G>T	ENST00000396184.3	-	9	998	c.794C>A	c.(793-795)gCt>gAt	p.A265D	PDE1C_ENST00000396193.1_Missense_Mutation_p.A325D|PDE1C_ENST00000396191.1_Missense_Mutation_p.A265D|PDE1C_ENST00000396182.2_Missense_Mutation_p.A265D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A265D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	265	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATGGATGGCAGCTGAGAAGAT	0.453000													54	104					1.67886e-27	2.07155e-27	0.139131	1	0
KIAA1432	57589	broad.mit.edu	37	9	5772996	5772996	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:5772996C>A	ENST00000414202.2	+	25	4090	c.3899C>A	c.(3898-3900)aCa>aAa	p.T1300K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.T1184K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T1221K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1300						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGGTTATTACACAGTCTTCA	0.453000													13	129					4.3838e-07	4.74705e-07	0.105934	1	0
SLC12A1	6557	broad.mit.edu	37	15	48500163	48500163	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:48500163G>A	ENST00000396577.3	+	2	462	c.247G>A	c.(247-249)Gat>Aat	p.D83N	SLC12A1_ENST00000558405.1_Missense_Mutation_p.D83N|SLC12A1_ENST00000561031.1_Missense_Mutation_p.D83N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D83N|SLC12A1_ENST00000330289.6_Missense_Mutation_p.D83N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	83					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGCTAAAACAGATGCCAGTTT	0.428000													21	91					0	0	0.055883	0	0
HECW2	57520	broad.mit.edu	37	2	197183930	197183930	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:197183930G>T	ENST00000260983.2	-	9	1866	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	HECW2_ENST00000409111.1_Missense_Mutation_p.Q206K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	562					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACTGCCCTGGTCAGCACTG	0.587000													8	71					5.4927e-09	6.12074e-09	0.047766	1	0
RAB25	57111	broad.mit.edu	37	1	156038210	156038210	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:156038210G>A	ENST00000361084.5	+	3	630	c.389G>A	c.(388-390)aGc>aAc	p.S130N	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	130					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)					AGTGACCTCAGCCAGGCCCGG	0.587000													6	146					0	0	0.029380	0	0
RNF10	9921	broad.mit.edu	37	12	120984337	120984337	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:120984337C>T	ENST00000325954.4	+	2	748	c.287C>T	c.(286-288)cCt>cTt	p.P96L	RNF10_ENST00000413266.2_Missense_Mutation_p.P96L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	96	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACAAGATGCCTCCTCAAAGG	0.433000													50	57					0	0	0.139131	0	0
FMO2	2327	broad.mit.edu	37	1	171174557	171174557	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:171174557G>C	ENST00000441535.1	+	7	1084	c.967G>C	c.(967-969)Gat>Cat	p.D323H	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.D323H|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	323					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAGAACATTGATGTCATCAT	0.388000													11	100					0	0	0.080935	0	0
ILDR2	387597	broad.mit.edu	37	1	166888576	166888576	+	Silent	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:166888576A>G	ENST00000469934.2	-	9	1476	c.1263T>C	c.(1261-1263)tcT>tcC	p.S421S	ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR			Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	0						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATTATCCAGAGAAATGTTGA	0.458000													7	32					0	0	0.029380	0	0
KAT6A	7994	broad.mit.edu	37	8	41789903	41789903	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:41789903C>A	ENST00000396930.3	-	18	6378	c.5835G>T	c.(5833-5835)caG>caT	p.Q1945H	KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1945H|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1945H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1945	Met-rich.|Required for activation of RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ACTGTGCTGTCTGGTTCATGT	0.478000													5	209					1.23904e-05	1.31448e-05	0.014758	1	0
NOM1	64434	broad.mit.edu	37	7	156746815	156746815	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:156746815G>T	ENST00000275820.3	+	3	1146	c.1131G>T	c.(1129-1131)atG>atT	p.M377I	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	377	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AACCCAACATGGCTTCCATCA	0.448000													14	41					0.000132079	0.000138334	0.049695	1	0
GPR68	8111	broad.mit.edu	37	14	91700939	91700939	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:91700939G>T	ENST00000535815.1	-	2	796	c.456C>A	c.(454-456)acC>acA	p.T152T	GPR68_ENST00000238699.3_Silent_p.T162T|GPR68_ENST00000531499.2_Silent_p.T152T	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	152					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGTAGATGCTGGTCAGCAGCT	0.632000													13	28					7.03913e-09	7.82882e-09	0.093190	1	0
FNDC3B	64778	broad.mit.edu	37	3	172062044	172062044	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:172062044G>C	ENST00000336824.4	+	19	2345	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	FNDC3B_ENST00000416957.1_Missense_Mutation_p.G749A|FNDC3B_ENST00000415807.2_Missense_Mutation_p.G749A	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	749	Fibronectin type-III 5.					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)		CTGAATGATGGAGGGGTGAGT	0.517000													42	344					0	0	0.111260	0	0
TAPT1	202018	broad.mit.edu	37	4	16164961	16164961	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:16164961C>A	ENST00000405303.2	-	14	1757	c.1674G>T	c.(1672-1674)agG>agT	p.R558S	TAPT1_ENST00000399920.3_Missense_Mutation_p.R447S|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	558						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						AAATTGTGAACCTGTCTATCT	0.433000													57	138					2.27459e-33	2.83093e-33	0.139131	1	0
ZNF569	148266	broad.mit.edu	37	19	37905078	37905078	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:37905078C>G	ENST00000316950.6	-	6	1039	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF569_ENST00000392150.2_Missense_Mutation_p.R2T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R161T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	161					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)			ATGCTCCTTTCTCATAAGGCA	0.338000													16	132					0	0	0.132662	0	0
GCNT4	51301	broad.mit.edu	37	5	74325216	74325216	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:74325216G>C	ENST00000322348.4	-	1	1508	c.647C>G	c.(646-648)tCt>tGt	p.S216C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	216					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGGATTGAAGACTTCAGAAG	0.393000													35	189					0	0	0.064281	0	0
KLHL41	10324	broad.mit.edu	37	2	170371213	170371213	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:170371213C>G	ENST00000284669.1	+	2	1317	c.1240C>G	c.(1240-1242)Ctg>Gtg	p.L414V	BBS5_ENST00000554017.1_Missense_Mutation_p.L352V|KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.L352V	NM_006063.2	NP_006054.2			kelch-like family member 41																		AGAGGCTTCGCTGGATTCAGT	0.433000													22	118					0	0	0.099896	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838622	155838622	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:155838622C>A	ENST00000490337.1	+	1	286	c.222C>A	c.(220-222)ctC>ctA	p.L74L	KCNAB1_ENST00000389636.5_Silent_p.L74L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	74						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCTAAAGCTCTGCGACCTGT	0.617000													23	70					1.96895e-08	2.17302e-08	0.076483	1	0
ZDHHC14	79683	broad.mit.edu	37	6	157963722	157963722	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:157963722C>T	ENST00000359775.5	+	2	1240	c.351C>T	c.(349-351)ccC>ccT	p.P117P	ZDHHC14_ENST00000414563.2_Silent_p.P117P			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	117						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TCAGCGACCCCGGAGTCCTCC	0.602000													3	30					0	0	0.150653	0	0
ISLR	3671	broad.mit.edu	37	15	74468360	74468360	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:74468360C>G	ENST00000249842.3	+	2	1518	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	ISLR_ENST00000395118.1_Missense_Mutation_p.I387M|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	387					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ATGTGGTCATCATCTACCTCA	0.637000													12	143					0	0	0.105934	0	0
LAIR1	3903	broad.mit.edu	37	19	54867011	54867011	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:54867011C>T	ENST00000391743.3	-	9	956	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	LAIR1_ENST00000313038.6_Missense_Mutation_p.G237R|LAIR1_ENST00000474878.1_Missense_Mutation_p.G226R|LAIR1_ENST00000348231.4_Missense_Mutation_p.G227R|LAIR1_ENST00000434277.2_Missense_Mutation_p.G243R|LAIR1_ENST00000391742.2_Missense_Mutation_p.G244R			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	244						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGGGAACTCCCTGCAGCCAGG	0.672000													18	171					0	0	0.049695	0	0
NLRP13	126204	broad.mit.edu	37	19	56423720	56423720	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:56423720A>G	ENST00000588751.1	-	5	1487	c.1463T>C	c.(1462-1464)aTa>aCa	p.I488T	NLRP13_ENST00000342929.3_Missense_Mutation_p.I488T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	488	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGCCCTTCTATGGCCAGACT	0.473000													16	93					0	0	0.173368	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342587	94342587	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:94342587C>G	ENST00000436063.2	-	2	961	c.904G>C	c.(904-906)Gat>Cat	p.D302H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCATTGGCATCTTCATCCAAA	0.363000													13	53					0	0	0.105934	0	0
TMEM98	26022	broad.mit.edu	37	17	31267870	31267870	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:31267870G>T	ENST00000579849.1	+	8	971	c.540G>T	c.(538-540)acG>acT	p.T180T	TMEM98_ENST00000394642.3_Silent_p.T180T|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCCATCTGACGGGAGGCCTGG	0.547000													70	231					4.14589e-37	5.19366e-37	0.139131	1	0
FAT4	79633	broad.mit.edu	37	4	126373592	126373592	+	Silent	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:126373592G>T	ENST00000394329.3	+	9	11434	c.11421G>T	c.(11419-11421)gtG>gtT	p.V3807V	FAT4_ENST00000335110.5_Silent_p.V2105V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3807	EGF-like 1.				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						ACTCCTGTGTGCATGGCCCAT	0.498000													14	51					2.31682e-05	2.44435e-05	0.132662	1	0
GUCD1	83606	broad.mit.edu	37	22	24942941	24942941	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:24942941C>G	ENST00000435822.1	-	4	651	c.327G>C	c.(325-327)gaG>gaC	p.E109D	GUCD1_ENST00000404664.3_Missense_Mutation_p.E165D|GUCD1_ENST00000402766.1_Missense_Mutation_p.E109D|GUCD1_ENST00000407471.3_Missense_Mutation_p.E109D|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000447813.2_Missense_Mutation_p.E109D	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1																		TCACCCGGGTCTCTTCTGTGT	0.542000													31	130					0	0	0.173368	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166055	193166055	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:193166055C>G	ENST00000342695.4	-	18	2414	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E679Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	698					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTTTTGTCTCTTCCTTCAAT	0.388000													32	510					0	0	0.163468	0	0
OLFML2B	25903	broad.mit.edu	37	1	161968140	161968140	+	Splice_Site	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:161968140C>T	ENST00000294794.3	-	6	1373		c.e6-1		OLFML2B_ENST00000367940.2_Splice_Site	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AACTCATCTTCTGTGAAACAA	0.498000													12	80					0	0	0.105934	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T	rs115145648	by1000genomes	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2																						CCATGTTCAGGTTTCTGAGAT	0.403000													3	82					0.004672	0.00478859	0.115264	1	0
ZNF343	79175	broad.mit.edu	37	20	2464480	2464480	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:2464480G>A	ENST00000278772.4	-	6	1614	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTTCTCACCGGAGTGTGTCCT	0.512000													31	64					0	0	0.144211	0	0
PCDH9	5101	broad.mit.edu	37	13	67800888	67800888	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:67800888A>C	ENST00000544246.1	-	2	2376	c.1685T>G	c.(1684-1686)gTt>gGt	p.V562G	PCDH9_ENST00000456367.1_Missense_Mutation_p.V562G|PCDH9_ENST00000377861.3_Missense_Mutation_p.V562G|PCDH9_ENST00000377865.2_Missense_Mutation_p.V562G|PCDH9_ENST00000328454.5_Missense_Mutation_p.V562G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCATCCAGAACAGTAACAAT	0.418000													18	187					0	0	0.055883	0	0
TNXB	7148	broad.mit.edu	37	6	32039851	32039851	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:32039851C>G	ENST00000375244.3	-	13	5107	c.4906G>C	c.(4906-4908)Gaa>Caa	p.E1636Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E1636Q			P22105	TENX_HUMAN	tenascin XB	1718	Fibronectin type-III 8.				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						CGGGAGGGTTCCAGGTCAGGG	0.592000													3	18					0	0	0.150653	0	0
MESDC2	23184	broad.mit.edu	37	15	81271612	81271612	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:81271612G>A	ENST00000261758.4	-	3	739	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	218					mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GGAAGACCGAGATTTCAGATC	0.507000													42	157					0	0	0.092188	0	0
CCSER1	401145	broad.mit.edu	37	4	91389423	91389423	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:91389423G>A	ENST00000509176.1	+	5	1930	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	CCSER1_ENST00000432775.2_Missense_Mutation_p.A548T|CCSER1_ENST00000333691.8_Missense_Mutation_p.A548T	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CGTCTCATGTGCCGCAGTAGT	0.383000													12	24					0	0	0.093190	0	0
LAMA1	284217	broad.mit.edu	37	18	7023210	7023210	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:7023210C>A	ENST00000389658.3	-	19	2747	c.2654G>T	c.(2653-2655)tGt>tTt	p.C885F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	885	Laminin EGF-like 8.				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)	CCCGTCAGCACACCTTTCACA	0.592000													3	28					0.00909568	0.00925667	0.150653	1	0
CAND2	23066	broad.mit.edu	37	3	12861588	12861588	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:12861588G>A	ENST00000456430.2	+	11	2989	c.2948G>A	c.(2947-2949)cGg>cAg	p.R983Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R890Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	983					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGCAGGTCGGCCACACACC	0.602000													3	70					0	0	0.150653	0	0
OBSL1	23363	broad.mit.edu	37	2	220420766	220420766	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:220420766T>C	ENST00000404537.1	-	14	4641	c.4585A>G	c.(4585-4587)Acc>Gcc	p.T1529A	OBSL1_ENST00000603926.1_Missense_Mutation_p.T1529A|OBSL1_ENST00000265318.4_Silent_p.A1395A|OBSL1_ENST00000373876.1_Missense_Mutation_p.T1437A|OBSL1_ENST00000265317.5_Missense_Mutation_p.T428A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1529	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGCCAGGGTGCGATCGTGG	0.622000													10	47					0	0	0.105934	0	0
DDX1	1653	broad.mit.edu	37	2	15735280	15735280	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:15735280A>T	ENST00000381341.2	+	3	417	c.28A>T	c.(28-30)Atg>Ttg	p.M10L	DDX1_ENST00000233084.3_Missense_Mutation_p.M10L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	10	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATGGGTGTAATGCCTGAGAT	0.323000													5	89					0	0	0.021553	0	0
BRCA2	675	broad.mit.edu	37	13	32913437	32913437	+	Missense_Mutation	SNP	A	A	G	rs80359474		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:32913437A>G	ENST00000544455.1	+	11	5172	c.4945A>G	c.(4945-4947)Aaa>Gaa	p.K1649E	BRCA2_ENST00000380152.3_Missense_Mutation_p.K1649E	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1649					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			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)		AGAAACAGCAAAAAGTCCTGC	0.303000			"""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	21					0	0	0.105934	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822330	43822330	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:43822330G>C	ENST00000389420.3	-	26	3658	c.3659C>G	c.(3658-3660)tCa>tGa	p.S1220*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S338*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1220*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1220	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAGGAAGCTGAACACTGATC	0.303000													9	41					0	0	0.069234	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132708	52132708	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:52132708G>A	ENST00000222107.4	-	3	741	c.603C>T	c.(601-603)acC>acT	p.T201T	SIGLEC5_ENST00000570106.2_Silent_p.T201T|SIGLEC5_ENST00000599649.1_Silent_p.T201T|SIGLEC5_ENST00000429354.3_Silent_p.T201T|SIGLEC5_ENST00000534261.2_Silent_p.T201T			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	201	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGGGCCTGGGGGTGAGGGTGA	0.627000													20	148					0	0	0.049695	0	0
LAMA1	284217	broad.mit.edu	37	18	7044832	7044832	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:7044832G>T	ENST00000389658.3	-	7	958	c.865C>A	c.(865-867)Cag>Aag	p.Q289K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	289	Laminin EGF-like 1.				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)	CATTGACACTGCAGTTTCTAC	0.448000													28	129					5.91797e-21	7.20939e-21	0.163468	1	0
C18orf21	83608	broad.mit.edu	37	18	33557477	33557477	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:33557477C>G	ENST00000592875.1	+	4	1051	c.405C>G	c.(403-405)ctC>ctG	p.L135L	C18orf21_ENST00000333234.5_Silent_p.L47L	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	135										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CAAGTAAACTCAGCCTGAAGA	0.433000													21	177					0	0	0.116897	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255481	25255481	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:25255481C>T	ENST00000328086.7	-	6	2409	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	536					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGAAGCTGTTCAGCTACAGCC	0.488000													12	94					0	0	0.132662	0	0
MAPK6	5597	broad.mit.edu	37	15	52350895	52350895	+	Missense_Mutation	SNP	C	C	A	rs1049605		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:52350895C>A	ENST00000261845.5	+	4	1573	c.766C>A	c.(766-768)Cgt>Agt	p.R256S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	256	Protein kinase.				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)		TGAGGAAGATCGTCAGGAGCT	0.398000													16	56					1.3612e-06	1.46572e-06	0.132662	1	0
RPSA	3921	broad.mit.edu	37	3	39449255	39449255	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:39449255C>T	ENST00000301821.6	+	2	220	c.111C>T	c.(109-111)taC>taT	p.Y37Y	RPSA_ENST00000443003.1_Silent_p.Y37Y	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	37					cell adhesion|endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGGAACAGTACATCTATAAAA	0.413000													5	21					0	0	0.021553	0	0
THAP9	79725	broad.mit.edu	37	4	83839864	83839864	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr4:83839864C>G	ENST00000302236.5	+	5	2550	c.2499C>G	c.(2497-2499)gtC>gtG	p.V833V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	833			V -> I (in dbSNP:rs35532215).				DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCACTTTGTCAAGTTGCTAA	0.313000													18	117					0	0	0.049695	0	0
UBA2	10054	broad.mit.edu	37	19	34922805	34922805	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:34922805A>G	ENST00000246548.4	+	3	332	c.262A>G	c.(262-264)Aat>Gat	p.N88D	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	88					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CCCGAAAGCTAATATCGTTGC	0.358000													9	363					0	0	0.069234	0	0
TBC1D8	11138	broad.mit.edu	37	2	101646186	101646186	+	Silent	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:101646186T>A	ENST00000409318.1	-	12	2119	c.1989A>T	c.(1987-1989)ccA>ccT	p.P663P	TBC1D8_ENST00000376840.4_Silent_p.P648P	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	648	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGCCAGCTCTGGGAGATGAC	0.582000													5	96					0	0	0.014758	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404174	59404174	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:59404174T>A	ENST00000301645.3	-	6	1512	c.1375A>T	c.(1375-1377)Att>Ttt	p.I459F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	459					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCATCAGAATCAAAAATTGC	0.433000									Neonatal Giant Cell Hepatitis				9	62					0	0	0.093190	0	0
C11orf48	79081	broad.mit.edu	37	11	62437203	62437203	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:62437203G>A	ENST00000431002.2	-	1	2034	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	C11orf48_ENST00000354588.3_Missense_Mutation_p.L75F|C11orf48_ENST00000532208.1_Missense_Mutation_p.L75F			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	101										endometrium(1)|lung(5)|urinary_tract(1)	7						GGCAAATGGAGATCCCCACTC	0.537000													22	133					0	0	0.091800	0	0
TNR	7143	broad.mit.edu	37	1	175355258	175355258	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:175355258C>A	ENST00000367674.1	-	8	2395	c.1687G>T	c.(1687-1689)Gcc>Tcc	p.A563S	TNR_ENST00000263525.2_Missense_Mutation_p.A563S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	563	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCGCAGGGCCTGCACTGAG	0.592000													13	79					5.3912e-06	5.74063e-06	0.175082	1	0
ORC6	23594	broad.mit.edu	37	16	46729493	46729493	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:46729493G>C	ENST00000566860.1	+	4	609	c.322G>C	c.(322-324)Gat>Cat	p.D108H	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.D157H|ORC6_ENST00000568364.2_Intron			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	157					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GCTGAAAGTGGATAAAAACAA	0.358000													4	33					0	0	0.014758	0	0
FNBP4	23360	broad.mit.edu	37	11	47767698	47767698	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:47767698C>T	ENST00000263773.5	-	7	1167	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	385										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGCAAAGATCCTCCTGAGAAG	0.383000													62	431					0	0	0.139131	0	0
COL6A5	256076	broad.mit.edu	37	3	130095440	130095440	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:130095440C>T	ENST00000265379.6	+	3	922	c.428C>T	c.(427-429)tCg>tTg	p.S143L	COL6A5_ENST00000432398.2_Missense_Mutation_p.S143L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	143	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTCCTGGCTTCGGCTGAGTCT	0.502000													15	17					0	0	0.175082	0	0
PIH1D3	139212	broad.mit.edu	37	X	106459969	106459969	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:106459969C>G	ENST00000535523.1	+	4	559	c.222C>G	c.(220-222)ctC>ctG	p.L74L	PIH1D3_ENST00000372453.3_Silent_p.L74L|PIH1D3_ENST00000336387.4_Silent_p.L74L	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		TAGAAGAGCTCAAAGGTAAGT	0.333000													10	26					0	0	0.069234	0	0
ZC3H13	23091	broad.mit.edu	37	13	46584555	46584555	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:46584555G>C	ENST00000242848.4	-	7	1022	c.674C>G	c.(673-675)cCg>cGg	p.P225R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P225R|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	225	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGACGACTTCGGGCTTGATTT	0.428000													77	152					0	0	0.139131	0	0
SEC24A	10802	broad.mit.edu	37	5	134022559	134022559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:134022559C>A	ENST00000398844.2	+	10	1859	c.1571C>A	c.(1570-1572)tCa>tAa	p.S524*	SEC24A_ENST00000322887.4_Nonsense_Mutation_p.S524*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	524					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			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTTGAATTCAGTTTGCCAG	0.328000													12	77					9.31168e-06	9.89689e-06	0.105934	1	0
SEC63	11231	broad.mit.edu	37	6	108215098	108215098	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:108215098C>G	ENST00000369002.4	-	15	1623	c.1444G>C	c.(1444-1446)Gta>Cta	p.V482L		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	482	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTCAAATACTTCCTGGGGG	0.388000													12	55					0	0	0.105934	0	0
LRRC34	151827	broad.mit.edu	37	3	169511466	169511466	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:169511466G>C	ENST00000522526.2	-	10	1693	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	LRRC34_ENST00000522830.1_Missense_Mutation_p.S390C|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.S451C|LRRC34_ENST00000316515.7_Missense_Mutation_p.S406C			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	406										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACCTGCATTAGATGAGTGGTC	0.353000													24	492					0	0	0.091800	0	0
DUSP27	92235	broad.mit.edu	37	1	167083021	167083021	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:167083021C>A	ENST00000361200.2	+	3	351	c.185C>A	c.(184-186)gCc>gAc	p.A62D	DUSP27_ENST00000271385.5_Missense_Mutation_p.A62D|DUSP27_ENST00000443333.1_Missense_Mutation_p.A62D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	62					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCATTGCAGCCAAACAGATC	0.478000													39	160					2.40579e-17	2.88795e-17	0.086207	1	0
CCDC102B	79839	broad.mit.edu	37	18	66678271	66678271	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:66678271A>G	ENST00000360242.5	+	7	1481	c.1364A>G	c.(1363-1365)gAa>gGa	p.E455G	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E455G|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E455G	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	455										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GATCAAAATGAAGCAGAAGTA	0.383000													14	53					0	0	0.132662	0	0
CACNA1E	777	broad.mit.edu	37	1	181701772	181701772	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:181701772C>T	ENST00000526775.1	+	19	2658	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	CACNA1E_ENST00000358338.5_Silent_p.I782I|CACNA1E_ENST00000367573.2_Silent_p.I850I|CACNA1E_ENST00000360108.3_Silent_p.I831I|CACNA1E_ENST00000367570.1_Silent_p.I850I|CACNA1E_ENST00000367567.4_Silent_p.I457I|CACNA1E_ENST00000357570.5_Silent_p.I801I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	850					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGCGCATCAGCCGTGGGG	0.677000													6	15					0	0	0.029380	0	0
GFPT2	9945	broad.mit.edu	37	5	179743458	179743458	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:179743458G>A	ENST00000253778.8	-	13	1325	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAAACTTGCCGCGTCTGAAGC	0.512000													25	58					0	0	0.083992	0	0
OR8I2	120586	broad.mit.edu	37	11	55860943	55860943	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:55860943C>G	ENST00000302124.2	+	1	191	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	OR8I2_ENST00000560768.1_Missense_Mutation_p.Q54E			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AATGGATTCTCAGCTTCACAC	0.373000													9	639					0	0	0.058154	0	0
UBR1	197131	broad.mit.edu	37	15	43313527	43313527	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr15:43313527G>C	ENST00000290650.4	-	27	2964	c.2886C>G	c.(2884-2886)ctC>ctG	p.L962L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	962					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAATTCCTTTGAGTTTTTCCA	0.318000													17	114					0	0	0.069288	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821162	5821162	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:5821162G>C	ENST00000381095.3	-	5	2184	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	NLGN4X_ENST00000381092.1_Silent_p.L519L|NLGN4X_ENST00000381093.2_Silent_p.L539L|NLGN4X_ENST00000275857.6_Silent_p.L519L|NLGN4X_ENST00000538097.1_Silent_p.L519L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	519					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.L519L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCACGGCGCTGAGCATGACGT	0.522000													4	95					0	0	0.150653	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004229	75004229	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:75004229C>A	ENST00000373359.2	-	1	850	c.658G>T	c.(658-660)Ggg>Tgg	p.G220W		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	220	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGTGTTCCCAAAGAGGTTG	0.483000													42	41					9.84934e-19	1.19229e-18	0.117977	1	0
MLLT6	4302	broad.mit.edu	37	17	36863738	36863738	+	Splice_Site	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:36863738G>A	ENST00000325718.7	+	3	280		c.e3-1		MLLT6_ENST00000579179.1_Splice_Site|MLLT6_ENST00000378137.5_Splice_Site	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCATTGGCAGAGGTGTGAGC	0.592000			T	MLL	AL								35	45					0	0	0.080422	0	0
ZNF154	7710	broad.mit.edu	37	19	58213791	58213791	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:58213791G>C	ENST00000512439.2	-	3	722	c.526C>G	c.(526-528)Ctc>Gtc	p.L176V	ZNF154_ENST00000426889.1_Missense_Mutation_p.L176V|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	176						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTCATTGAGACTGTAGCTT	0.453000													85	511					0	0	0.139131	0	0
NUP85	79902	broad.mit.edu	37	17	73229201	73229201	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:73229201C>T	ENST00000447371.2	+	15	1483	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	NUP85_ENST00000541827.1_Silent_p.L475L|NUP85_ENST00000540768.1_Silent_p.L124L|NUP85_ENST00000245544.4_Silent_p.L521L|NUP85_ENST00000579324.1_Silent_p.L409L|NUP85_ENST00000579298.1_Silent_p.L476L			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	521					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTTGGATCTCATTGACAACC	0.567000													29	311					0	0	0.183431	0	0
ATP11B	23200	broad.mit.edu	37	3	182616476	182616476	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:182616476C>A	ENST00000323116.5	+	28	3494	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1078					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)			CCATAATCCTCATGGTTGTTA	0.393000													17	417					5.03518e-11	5.7445e-11	0.043863	1	0
VWA3B	200403	broad.mit.edu	37	2	98928739	98928739	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr2:98928739G>C	ENST00000477737.1	+	28	4016	c.3812G>C	c.(3811-3813)cGa>cCa	p.R1271P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1271										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTCCACCTCGAGCAGCCCTG	0.607000													13	98					0	0	0.160694	0	0
SYNE1	23345	broad.mit.edu	37	6	152673179	152673179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:152673179G>A	ENST00000367255.5	-	70	12164	c.11563C>T	c.(11563-11565)Cag>Tag	p.Q3855*	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3840*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3855*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3840*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3855					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)		TTAGATAACTGAGCTTTTTTC	0.413000										HNSCC(10;0.0054)			9	108					0	0	0.047766	0	0
ZNF382	84911	broad.mit.edu	37	19	37117328	37117328	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:37117328G>A	ENST00000435416.1	+	3	2021	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ZNF382_ENST00000439428.1_Missense_Mutation_p.E176K|ZNF382_ENST00000423582.1_Missense_Mutation_p.E128K|ZNF382_ENST00000292928.2_Missense_Mutation_p.E177K			Q96SR6	ZN382_HUMAN	zinc finger protein 382	177	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACCAAGCATGAGAAAATTCA	0.388000													34	401					0	0	0.163468	0	0
TMCO3	55002	broad.mit.edu	37	13	114157899	114157899	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:114157899G>T	ENST00000434316.2	+	6	1393	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TMCO3_ENST00000375391.1_Missense_Mutation_p.R345I|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	345						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)			GAAAAGCTAAGAAAGGTAAGG	0.373000													38	91					1.30998e-17	1.57912e-17	0.080422	1	0
MGAM	8972	broad.mit.edu	37	7	141755366	141755366	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:141755366C>T	ENST00000475668.2	+	28	3377	c.3323C>T	c.(3322-3324)tCt>tTt	p.S1108F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1108F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1108	Glucoamylase.				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)	AGTTGGGACTCTCAGCTCCTT	0.458000													13	104					0	0	0.119110	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045480	184045480	+	Silent	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:184045480C>G	ENST00000342981.4	+	24	4185	c.3771C>G	c.(3769-3771)ctC>ctG	p.L1257L	EIF4G1_ENST00000382330.3_Silent_p.L1263L|EIF4G1_ENST00000346169.2_Silent_p.L1256L|EIF4G1_ENST00000319274.6_Silent_p.L1256L|EIF4G1_ENST00000441154.1_Silent_p.L1093L|EIF4G1_ENST00000411531.1_Silent_p.L1217L|EIF4G1_ENST00000435046.2_Silent_p.L1060L|EIF4G1_ENST00000352767.3_Silent_p.L1263L|EIF4G1_ENST00000434061.2_Silent_p.L1061L|EIF4G1_ENST00000427845.1_Silent_p.L1170L|EIF4G1_ENST00000350481.5_Silent_p.L1092L|EIF4G1_ENST00000424196.1_Silent_p.L1263L|EIF4G1_ENST00000414031.1_Silent_p.L1216L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.L1169L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1256	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L1256L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCTCCATCTCAATGACATGA	0.567000													6	195					0	0	0.021553	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6533066	6533066	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:6533066C>T	ENST00000377748.1	-	10	1692	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E322K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E401K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E322K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E378K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E322K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E359K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E322K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E322K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E322K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E399K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E391K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	378	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCAATGAGCTCCCGCCAGCTG	0.627000													21	22					0	0	0.055883	0	0
NES	10763	broad.mit.edu	37	1	156640464	156640464	+	Missense_Mutation	SNP	C	C	A	rs140202258		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:156640464C>A	ENST00000368223.3	-	4	3648	c.3516G>T	c.(3514-3516)agG>agT	p.R1172S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1172	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGACTCCTCCCTACCCTCCC	0.647000													31	137					1.80694e-10	2.03325e-10	0.144211	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572961	140572961	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:140572961A>G	ENST00000239446.4	+	1	1020	c.836A>G	c.(835-837)tAt>tGt	p.Y279C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTATCCTATTCATTTTTT	0.403000													94	100					0	0	0.139131	0	0
RPL10L	140801	broad.mit.edu	37	14	47120689	47120689	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:47120689C>A	ENST00000298283.3	-	1	339	c.251G>T	c.(250-252)gGc>gTc	p.G84V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	84					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATGTGAAAGCCATCTCTGCC	0.527000													41	58					6.2361e-21	7.58089e-21	0.098360	1	0
STIL	6491	broad.mit.edu	37	1	47735496	47735496	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:47735496G>T	ENST00000360380.3	-	15	2789	c.2426C>A	c.(2425-2427)cCt>cAt	p.P809H	STIL_ENST00000371877.3_Missense_Mutation_p.P809H|STIL_ENST00000243182.6_Missense_Mutation_p.P809H|STIL_ENST00000337817.5_Missense_Mutation_p.P809H|STIL_ENST00000396221.2_Missense_Mutation_p.P809H			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	809					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGAGAGTCAGGCTCTTGATC	0.358000													42	95					1.63429e-32	2.02962e-32	0.139131	1	0
FERMT2	10979	broad.mit.edu	37	14	53360090	53360090	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:53360090C>T	ENST00000395631.2	-	4	663	c.447G>A	c.(445-447)aaG>aaA	p.K149K	FERMT2_ENST00000341590.3_Silent_p.K149K|FERMT2_ENST00000399304.3_Silent_p.K149K|FERMT2_ENST00000343279.4_Silent_p.K149K|FERMT2_ENST00000553373.1_Silent_p.K149K			Q96AC1	FERM2_HUMAN	fermitin family member 2	149					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCTTTTTTTTCTTTGTTGGAT	0.363000													4	136					0	0	0.021553	0	0
METTL2B	55798	broad.mit.edu	37	7	128119565	128119565	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:128119565G>C	ENST00000480046.1	+	2	476	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000262432.8_Missense_Mutation_p.E186Q			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	186							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCGAATACTGGAGGTAACCTT	0.413000													6	95					0	0	0.021553	0	0
OOEP	441161	broad.mit.edu	37	6	74078997	74078997	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:74078997C>G	ENST00000370363.1	-	3	629	c.137G>C	c.(136-138)cGt>cCt	p.R46P	OOEP_ENST00000370359.5_Missense_Mutation_p.R101P			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	101						cytoplasm		p.R101L(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTCTGTACACGGGGCCGCCC	0.557000													8	43					0	0	0.069234	0	0
FANCA	2175	broad.mit.edu	37	16	89858345	89858345	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:89858345C>A	ENST00000389301.3	-	13	1245	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	FANCA_ENST00000568369.1_Missense_Mutation_p.Q405H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	405					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTTCAAGCAGCTGCTGCGCTT	0.567000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	24					4.75885e-15	5.61876e-15	0.160694	1	0
OPRK1	4986	broad.mit.edu	37	8	54147395	54147395	+	Silent	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:54147395G>A	ENST00000265572.3	-	3	831	c.534C>T	c.(532-534)atC>atT	p.I178I	OPRK1_ENST00000524278.1_Silent_p.I89I|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.I178I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	178					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGCAGATATTGATGATCTTTG	0.512000													24	112					0	0	0.076483	0	0
TBX10	347853	broad.mit.edu	37	11	67401814	67401814	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:67401814G>A	ENST00000335385.3	-	4	482	c.395C>T	c.(394-396)tCg>tTg	p.S132L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	132					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CAGCCAGGCCGAGCTGTGGAA	0.667000													4	6					0	0	0.014758	0	0
SGCG	6445	broad.mit.edu	37	13	23808791	23808791	+	Silent	SNP	C	C	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:23808791C>T	ENST00000218867.3	+	3	361	c.237C>T	c.(235-237)cgC>cgT	p.R79R	SGCG_ENST00000537476.1_Silent_p.R79R|SGCG_ENST00000545013.1_Silent_p.R79R	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	79					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ATGGACTGCGCTTGGAAGGGG	0.348000													42	195					0	0	0.111260	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641797	106641797	+	RNA	SNP	G	G	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:106641797G>T	ENST00000390605.2	-	0	175																											CCTTGCAGGAGACCTTCACTG	0.582000													26	220					1.66031e-10	1.87191e-10	0.091800	1	0
PCGF2	7703	broad.mit.edu	37	17	36896596	36896596	+	Silent	SNP	G	G	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:36896596G>C	ENST00000580830.1	-	4	761	c.60C>G	c.(58-60)ctC>ctG	p.L20L	PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000579882.1_Silent_p.L20L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	20					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACCCCCCGCAGAGGGCACACA	0.637000													33	96					0	0	0.183431	0	0
PDYN	5173	broad.mit.edu	37	20	1961025	1961025	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:1961025C>G	ENST00000217305.2	-	4	934	c.709G>C	c.(709-711)Gtg>Ctg	p.V237L	PDYN_ENST00000540134.1_Missense_Mutation_p.V237L|PDYN_ENST00000539905.1_Missense_Mutation_p.V237L|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	237					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACCGAGTCACCACCTTGAAC	0.532000													100	271					0	0	0.139131	0	0
NXT1	29107	broad.mit.edu	37	20	23335017	23335017	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr20:23335017C>G	ENST00000254998.2	+	2	726	c.339C>G	c.(337-339)ttC>ttG	p.F113L		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	113	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACCAGAACTTCATCCTGACCG	0.552000													4	38					0	0	0.150653	0	0
CADM2	253559	broad.mit.edu	37	3	86115879	86115879	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:86115879C>A	ENST00000383699.3	+	10	1788	c.1161C>A	c.(1159-1161)atC>atA	p.I387I	CADM2_ENST00000405615.2_Silent_p.I420I|CADM2_ENST00000407528.2_Silent_p.I418I	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	418					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)		CAGCCATTATCAATGCTGAAG	0.393000													5	93					7.48243e-07	8.08721e-07	0.058154	1	0
TAOK1	57551	broad.mit.edu	37	17	27802714	27802714	+	Silent	SNP	C	C	A			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:27802714C>A	ENST00000261716.3	+	4	750	c.231C>A	c.(229-231)gtC>gtA	p.V77V	TAOK1_ENST00000536202.1_Silent_p.V77V	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	77	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTAAGGAAGTCAAGTTTCTAC	0.338000													6	48					0.0381472	0.0385495	0.038147	1	0
KCNH1	3756	broad.mit.edu	37	1	210856746	210856746	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:210856746delT	ENST00000367007.4	-	11	2935	c.2766delA	c.(2764-2766)aafs	p.K922fs	KCNH1_ENST00000271751.4_Frame_Shift_Del_p.K949fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	949					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGAGAGCTGTTTCTCAATAT	0.498													8	293	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													4	4	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(328-333)atggggfs	p.MG110fs	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	110					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599													7	289	---	---	---	---					
TMEM108	66000	broad.mit.edu	37	3	133098771	133098772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:133098771_133098772insC	ENST00000515826.1	+	3	339_340	c.216_217insC	c.(214-219)ggccccfs	p.GP72fs	TMEM108_ENST00000321871.6_Frame_Shift_Ins_p.GP72fs|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.GP72fs			Q6UXF1	TM108_HUMAN	transmembrane protein 108	72	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCCCGATGGACCCCCCTCACA	0.629													8	573	---	---	---	---					
SI	6476	broad.mit.edu	37	3	164780228	164780228	+	Frame_Shift_Del	DEL	G	G	-	rs144637860		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:164780228delG	ENST00000264382.3	-	9	1013	c.951delC	c.(949-951)acfs	p.T317fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	317	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAATGCCACCGGTAACTCTAT	0.308										HNSCC(35;0.089)			135	90	---	---	---	---					
LAMP3	27074	broad.mit.edu	37	3	182871950	182871951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:182871950_182871951insT	ENST00000265598.3	-	2	533_534	c.278_279insA	c.(277-279)aacfs	p.N93fs	LAMP3_ENST00000466939.1_Frame_Shift_Ins_p.N69fs	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	93	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane		p.N93S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGGTTGCAGTGTTTTTTGTAGT	0.490													7	856	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													9	489	---	---	---	---					
MIR9-2	407047	broad.mit.edu	37	5	87980839	87980840	+	RNA	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr5:87980839_87980840insG	ENST00000510274.1	+	0	46																											gaggGATGGGAGGGGTAGGGTG	0.604													2	4	---	---	---	---					
TAAR5	9038	broad.mit.edu	37	6	132910078	132910078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:132910078delC	ENST00000258034.2	-	1	799	c.748delG	c.(748-750)ctfs	p.A251fs		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	251					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GTCTTGGCAGCTTTTCTCTCA	0.522													15	99	---	---	---	---					
UNC93A	54346	broad.mit.edu	37	6	167711436	167711436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr6:167711436delC	ENST00000230256.3	+	4	678	c.503delC	c.(502-504)acfs	p.T168fs	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	168						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTCATAGAGACCCTTCCAGAA	0.532													15	78	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-687)cccfs	p.P229fs	DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	229					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649													8	299	---	---	---	---					
OPRK1	4986	broad.mit.edu	37	8	54147497	54147497	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:54147497delG	ENST00000265572.3	-	3	729	c.432delC	c.(430-432)acfs	p.T144fs	OPRK1_ENST00000524278.1_Frame_Shift_Del_p.T55fs|OPRK1_ENST00000520287.1_Frame_Shift_Del_p.T144fs|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	144					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGAAGATGCTGGTGAACATGT	0.493													29	76	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103312273	103312274	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr8:103312273_103312274insG	ENST00000520539.1	-	23	3666_3667	c.3060_3061insC	c.(3058-3063)cctagcfs	p.S1021fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.S1015fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.S1021fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1021					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGGGAGCTATGGGGGGTGAAA	0.475													7	342	---	---	---	---					
KIAA0020	9933	broad.mit.edu	37	9	2804411	2804412	+	In_Frame_Ins	INS	-	-	TAGTGC			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr9:2804411_2804412insTAGTGC	ENST00000397885.2	-	18	2072_2073	c.1866_1867insGCACTA	c.(1864-1869)ctaaag>ctGCACTAaaag	p.622_623LK>LH*K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	622						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCAAGCTTTTCAGTGCAGCTT	0.381													22	130	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30317561	30317562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:30317561_30317562insG	ENST00000375377.1	-	3	1616_1617	c.1515_1516insC	c.(1513-1518)ccgggafs	p.PG505fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	505										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCCATCCCCGGGGGGCTGGC	0.644													7	288	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													14	761	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)caaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	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)				GCTGGTTCTTTGTGTGTGTGTG	0.500													9	165	---	---	---	---					
ARFGAP2	84364	broad.mit.edu	37	11	47196580	47196583	+	Frame_Shift_Del	DEL	TGAA	TGAA	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:47196580_47196583delTGAA	ENST00000524782.1	-	5	691_694	c.463_466delTTCA	c.(463-468)cafs	p.FT155fs	ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	155	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGTGTTCTGTGAAGAAATCAGAG	0.475													88	406	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116732068	116732069	+	Frame_Shift_Ins	INS	-	-	G	rs142416566		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:116732068_116732069insG	ENST00000375300.1	-	18	2207_2208	c.2202_2203insC	c.(2200-2205)ccaccafs	p.P735fs	SIK3_ENST00000434315.2_Frame_Shift_Ins_p.P576fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.P677fs|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.P735fs|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.P677fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	677	Gln-rich.					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						TTGGGGTGGTTGGGGGGTGGGC	0.485											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	241	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130278406	130278407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr11:130278406_130278407insC	ENST00000257359.6	-	8	2757_2758	c.2051_2052insG	c.(2050-2052)gaafs	p.E684fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	684	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGTTGCCTTTGCCCCCACACAC	0.589													7	729	---	---	---	---					
EEA1	8411	broad.mit.edu	37	12	93206841	93206841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr12:93206841delG	ENST00000322349.8	-	16	2222	c.1958delC	c.(1957-1959)tafs	p.S653fs		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	653	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCTTCTGCTGATAGTAATAG	0.358													54	124	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039368	49039369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:49039368_49039369insT	ENST00000267163.4	+	23	2491_2492	c.2353_2354insT	c.(2353-2355)tccfs	p.S785fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	785	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				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.?(11)		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)	AATACCTCACATTCCTCGAAGC	0.386		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)			119	342	---	---	---	---					
PCDH9	5101	broad.mit.edu	37	13	67801921	67801944	+	In_Frame_Del	DEL	AGGTATCTTTCTGTTCTCTATCCA	AGGTATCTTTCTGTTCTCTATCCA	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr13:67801921_67801944delAGGTATCTTTCTGTTCTCTATCCA	ENST00000544246.1	-	2	1320_1343	c.629_652delTGGATAGAGAACAGAAAGATACCT	c.(628-654)tat>t	p.LDREQKDTY210del	PCDH9_ENST00000456367.1_In_Frame_Del_p.LDREQKDTY210del|PCDH9_ENST00000377865.2_In_Frame_Del_p.LDREQKDTY210del|PCDH9_ENST00000328454.5_In_Frame_Del_p.LDREQKDTY210del|PCDH9_ENST00000377861.3_In_Frame_Del_p.LDREQKDTY210del	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	210	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T217N(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCATCACATAGGTATCTTTCTGTTCTCTATCCAAGTTTTGCTG	0.433													26	210	---	---	---	---					
ATG2B	55102	broad.mit.edu	37	14	96798913	96798914	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr14:96798913_96798914insG	ENST00000359933.4	-	9	2179_2180	c.1286_1287insC	c.(1285-1287)caafs	p.Q429fs		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	429										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTCCATGTTTGGGGGGTCCCC	0.396													7	272	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24580361	24580362	+	Frame_Shift_Del	DEL	CG	CG	-	rs146591085	byFrequency	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:24580361_24580362delCG	ENST00000319715.4	+	17	2782_2783	c.2350_2351delCG	c.(2350-2352)tfs	p.R784fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.R750fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	784					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)		TCCTAATAAACGTAATGTACCT	0.416													26	46	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30749653	30749655	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:30749653_30749655delGCG	ENST00000262518.4	+	34	8677_8679	c.8292_8294delGCG	c.(8290-8295)gtg>gt	p.VR2764del	SRCAP_ENST00000344771.4_In_Frame_Del_p.VR2606del|SRCAP_ENST00000395059.2_In_Frame_Del_p.VR2702del	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2764	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAACTGGTGCGGCGGCGGCGG	0.655													8	79	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													7	161	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													7	410	---	---	---	---					
SDF2	6388	broad.mit.edu	37	17	26988862	26988863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:26988862_26988863insC	ENST00000247020.4	-	1	330_331	c.32_33insG	c.(31-33)gttfs	p.V11fs	SDF2_ENST00000592250.1_Intron	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	11					protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	p.G11fs*20(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CGCTCCACAAACCCCCCAACAA	0.584													8	507	---	---	---	---					
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(952-957)ccccccfs	p.PP318fs	PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	318					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545													8	507	---	---	---	---					
ME2	4200	broad.mit.edu	37	18	48466751	48466752	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr18:48466751_48466752insT	ENST00000321341.5	+	15	1854_1855	c.1582_1583insT	c.(1582-1584)taafs	p.*528fs	ME2_ENST00000382927.3_Intron|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	528					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TAACATTGCTATTAAAGTAAGT	0.327													51	206	---	---	---	---					
C19orf26	255057	broad.mit.edu	37	19	1231033	1231034	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:1231033_1231034insG	ENST00000590083.1	-	9	1512_1513	c.1220_1221insC	c.(1219-1221)cagfs	p.Q407fs	C19orf26_ENST00000382477.2_Intron|C19orf26_ENST00000215376.6_Frame_Shift_Ins_p.Q401fs			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	437						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGCCTAGGGGGGGGCGA	0.708										HNSCC(14;0.022)			2	4	---	---	---	---					
CYP4F24P	388514	broad.mit.edu	37	19	15872020	15872021	+	RNA	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:15872020_15872021insG	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCTTCCTACCCGGGGGGCTCCT	0.564													7	127	---	---	---	---					
CLIP3	25999	broad.mit.edu	37	19	36509878	36509879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:36509878_36509879insG	ENST00000360535.4	-	9	1331_1332	c.1104_1105insC	c.(1102-1107)cccctcfs	p.L369fs	CLIP3_ENST00000593074.1_Frame_Shift_Ins_p.L369fs|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	369					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGACAGAGGAGGGGGGTGCGT	0.634													9	500	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38976629	38976630	+	Frame_Shift_Ins	INS	-	-	C	rs35566549	byFrequency	TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:38976629_38976630insC	ENST00000355481.4	+	34	5465_5466	c.5334_5335insC	c.(5332-5337)tcccccfs	p.SP1778fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.SP1778fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.SP1778fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1778	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATCATTTCTCGCCCCCCTGTTT	0.683													11	289	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39016011	39016012	+	Frame_Shift_Ins	INS	-	-	G	rs147058802		TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:39016011_39016012insG	ENST00000355481.4	+	70	10611_10612	c.10480_10481insG	c.(10480-10482)gggfs	p.G3494fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3499fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3499fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3499					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAGAAGCGCCGGGGGGACCGG	0.634													8	515	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39058458	39058459	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr19:39058458_39058459insC	ENST00000355481.4	+	92	13676_13677	c.13545_13546insC	c.(13543-13548)gaccccfs	p.DP4515fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.DP4515fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.DP4520fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4520	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCACACCAGAGCCCCCCAAGAA	0.599													8	410	---	---	---	---					
ADAMTS5	11096	broad.mit.edu	37	21	28302326	28302327	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr21:28302326_28302327insC	ENST00000284987.5	-	7	2224_2225	c.2103_2104insG	c.(2101-2106)ggagtgfs	p.V702fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	702	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTCACACACTTCCCCCGGACGC	0.490													7	446	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	6	---	---	---	---					
CSF2RA	1438	broad.mit.edu	37	X	1407738	1407739	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:1407738_1407739insC	ENST00000381524.3	+	6	616_617	c.430_431insC	c.(430-432)cccfs	p.P144fs	CSF2RA_ENST00000501036.2_Frame_Shift_Ins_p.P11fs|CSF2RA_ENST00000381529.3_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000355432.3_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000432318.2_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000361536.3_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000381500.1_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000417535.2_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000381509.3_Frame_Shift_Ins_p.P144fs|CSF2RA_ENST00000355805.2_Frame_Shift_Ins_p.P144fs			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	144						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGTCCGACGGCCCCCCGTGAC	0.475													7	184	---	---	---	---					
GRIPAP1	56850	broad.mit.edu	37	X	48854568	48854571	+	Frame_Shift_Del	DEL	GAGC	GAGC	-			TCGA-17-Z057-01A-01W-0747-08	TCGA-17-Z057-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4236905d-1549-4cbc-b3c6-e62db9ea598b	6cb1c8c9-0df5-4146-ab32-eed6d641b177	g.chrX:48854568_48854571delGAGC	ENST00000376423.4	-	4	225_228	c.193_196delGCTC	c.(193-198)agfs	p.AQ65fs	GRIPAP1_ENST00000376425.3_Frame_Shift_Del_p.AQ65fs|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376441.1_Frame_Shift_Del_p.AQ65fs	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	65						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCCCTTACCTGAGCTTTCTTGCTC	0.485													105	78	---	---	---	---