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
FAM86EP	348926	broad.mit.edu	37	4	3948468	3948468	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:3948468C>A	ENST00000313946.8	-	0	1232																											GGGGACCATGCAGGCCCGGGT	0.632000													6	12					2.17888e-05	2.68107e-05	0.058154	1	0
NAV3	89795	broad.mit.edu	37	12	78362297	78362297	+	Splice_Site	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:78362297A>T	ENST00000397909.2	+	5	660		c.e5-1		NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATTTCATACAGAAATAAGAA	0.308000										HNSCC(70;0.22)			3	18					0	0	0.009096	0	0
OR10J3	441911	broad.mit.edu	37	1	159284105	159284105	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:159284105C>A	ENST00000332217.5	-	1	344	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGACTGTGAGCAGGAAGCAGT	0.507000													16	112					7.05477e-17	1.27952e-16	0.033300	1	0
PRKAG3	53632	broad.mit.edu	37	2	219695018	219695018	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:219695018C>G	ENST00000439262.2	-	4	336	c.241G>C	c.(241-243)Ggg>Cgg	p.G81R	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G106R|PRKAG3_ENST00000545803.1_Intron|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G106R	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	106					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCCCACCCCGGCAGGATCA	0.647000													4	12					0	0	0.014758	0	0
SGCZ	137868	broad.mit.edu	37	8	13959885	13959885	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:13959885C>A	ENST00000382080.1	-	7	1459	c.744_splice	c.e7+1	p.E248_splice	SGCZ_ENST00000421524.2_Splice_Site_p.E201_splice	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	235					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGGACTCACCTCCCCTTCTG	0.488000													17	67					4.75885e-15	8.33428e-15	0.033300	1	0
PCED1A	64773	broad.mit.edu	37	20	2819684	2819684	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:2819684C>A	ENST00000360652.2	-	4	751	c.249G>T	c.(247-249)caG>caT	p.Q83H	PCED1A_ENST00000356872.3_Intron	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		GCTCGCCCAGCTGGCCCCCAG	0.637000													8	22					2.17888e-05	2.68107e-05	0.058154	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33881244	33881244	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:33881244G>A	ENST00000504830.1	-	2	804	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L157F|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.L157F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	157					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGGCACTGAGGGCTGCCGTC	0.592000										HNSCC(64;0.19)			15	101					0	0	0.146539	0	0
MALSU1	115416	broad.mit.edu	37	7	23340607	23340607	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:23340607C>T	ENST00000466681.1	+	2	559	c.406C>T	c.(406-408)Cat>Tat	p.H136Y		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	136						mitochondrion											CCGACACTTACATGCCATGGC	0.423000													11	53					0	0	0.093190	0	0
CRNN	49860	broad.mit.edu	37	1	152382377	152382377	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:152382377T>C	ENST00000271835.3	-	3	1243	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	394					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGCCTCAGGGTTGCT	0.597000													27	168					0	0	0.116897	0	0
KMT2C	58508	broad.mit.edu	37	7	151970872	151970872	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:151970872A>T	ENST00000355193.2	-	7	1148	c.930T>A	c.(928-930)tgT>tgA	p.C310*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C310*					lysine (K)-specific methyltransferase 2C																		CTCCTGCAGCACAAGGATAAT	0.448000													8	136					0	0	0.038147	0	0
UPF2	26019	broad.mit.edu	37	10	11971905	11971905	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:11971905C>A	ENST00000356352.2	-	20	4241	c.3768G>T	c.(3766-3768)aaG>aaT	p.K1256N	UPF2_ENST00000397053.2_Missense_Mutation_p.K1256N|UPF2_ENST00000357604.5_Missense_Mutation_p.K1256N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1256	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAGGTGCTCCCTTCGGATGTT	0.453000													25	77					7.87624e-14	1.32674e-13	0.076483	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	38					0	0	0.029380	0	0
LRRN3	54674	broad.mit.edu	37	7	110763521	110763521	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:110763521C>A	ENST00000451085.1	+	4	1739	c.693C>A	c.(691-693)gcC>gcA	p.A231A	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Silent_p.A231A|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Silent_p.A231A|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	231						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGATAACGCCTTGGTTGGAC	0.358000													12	47					7.03913e-09	1.02868e-08	0.093190	1	0
OVCH1	341350	broad.mit.edu	37	12	29614890	29614890	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:29614890C>A	ENST00000318184.5	-	19	2176	c.2177G>T	c.(2176-2178)aGa>aTa	p.R726I	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	726	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGACCTCTCTTTCTAACAC	0.458000													112	101					4.22328e-53	8.44655e-53	0.139131	1	0
FAM107A	11170	broad.mit.edu	37	3	58552961	58552961	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:58552961G>A	ENST00000394481.1	-	4	859	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	FAM107A_ENST00000447756.2_Silent_p.L129L|FAM107A_ENST00000360997.2_Silent_p.L101L|FAM107A_ENST00000464064.1_Silent_p.L101L|FAM107A_ENST00000474531.1_Silent_p.L132L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	101					regulation of cell growth	nucleus	protein binding	p.L101L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TGCCGTCTCAGCAGCTCCTGC	0.642000													10	19					0	0	0.132662	0	0
A2M	2	broad.mit.edu	37	12	9264982	9264982	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:9264982C>T	ENST00000318602.7	-	3	728	c.421G>A	c.(421-423)Ggg>Agg	p.G141R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	141					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGTCTGCCCTGGTTTGTAG	0.448000													9	43					0	0	0.069234	0	0
CPS1	1373	broad.mit.edu	37	2	211464127	211464127	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:211464127C>A	ENST00000233072.5	+	14	1587	c.1391C>A	c.(1390-1392)cCa>cAa	p.P464Q	CPS1_ENST00000451903.2_Missense_Mutation_p.P13Q|CPS1_ENST00000430249.2_Missense_Mutation_p.P470Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	464					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P464R(1)|p.P470R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTGATGAACCCAAACATTGCA	0.398000													9	26					3.09899e-07	4.13615e-07	0.047766	1	0
FNDC8	54752	broad.mit.edu	37	17	33454109	33454109	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:33454109C>A	ENST00000158009.5	+	2	373	c.258C>A	c.(256-258)agC>agA	p.S86R		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	86										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		ATGAGACCAGCATCTCTGCCT	0.562000													21	77					3.62473e-10	5.55457e-10	0.062417	1	0
HCN3	57657	broad.mit.edu	37	1	155253818	155253818	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:155253818C>T	ENST00000368358.3	+	3	770	c.762C>T	c.(760-762)ctC>ctT	p.L254L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	254						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTTCAACCTCATTGGGATGA	0.577000													18	130					0	0	0.062417	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42885907	42885907	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:42885907C>A	ENST00000342560.5	+	2	383	c.295C>A	c.(295-297)Ccc>Acc	p.P99T	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.P99T	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	99	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGAGGAGGTGCCCGTCATCAT	0.622000													6	18					0.0293803	0.030775	0.029380	1	0
ADH1B	125	broad.mit.edu	37	4	100237232	100237232	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:100237232C>A	ENST00000305046.8	-	5	457	c.390G>T	c.(388-390)agG>agT	p.R130S	ADH1B_ENST00000394887.3_Missense_Mutation_p.R90S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	130				Missing (in Ref. 12; AA sequence).	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGCAGGTGAACCTCCTGGTGC	0.552000													10	42					1.76689e-08	2.52087e-08	0.058154	1	0
MARCH8	220972	broad.mit.edu	37	10	45958759	45958759	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:45958759C>A	ENST00000453424.2	-	5	1189	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	MARCH8_ENST00000395771.3_Intron|MARCH8_ENST00000319836.3_Intron|MARCH8_ENST00000395769.2_Intron			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	0						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AAGACATCGTCGTCTCCCATC	0.592000													3	12					0.00024832	0.0002884	0.009096	1	0
LAMA4	3910	broad.mit.edu	37	6	112512973	112512973	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:112512973G>T	ENST00000230538.7	-	6	980	c.583C>A	c.(583-585)Ccc>Acc	p.P195T	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.P195T|LAMA4_ENST00000389463.4_Missense_Mutation_p.P195T|LAMA4_ENST00000522006.1_Missense_Mutation_p.P195T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	195	Laminin EGF-like 3.				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)		ATCAGGTTGGGATCTGAATTT	0.463000													9	28					0.000274275	0.000315226	0.047766	1	0
CHDC2	286464	broad.mit.edu	37	X	36103457	36103457	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:36103457C>G	ENST00000378660.1	+	5	631	c.443C>G	c.(442-444)tCa>tGa	p.S148*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.S148*					calponin homology domain containing 2																		CAATTCTACTCATCAACCTCG	0.328000													21	23					0	0	0.049695	0	0
MYRF	745	broad.mit.edu	37	11	61544844	61544844	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:61544844C>A	ENST00000278836.5	+	12	1795	c.1699C>A	c.(1699-1701)Ccg>Acg	p.P567T	MYRF_ENST00000265460.5_Missense_Mutation_p.P558T|MYRF_ENST00000327797.1_Missense_Mutation_p.P192T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CACAGACCGGCCGGATGAGGC	0.657000													8	10					0.000442599	0.000506046	0.058154	1	0
ZBTB40	9923	broad.mit.edu	37	1	22837825	22837825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:22837825G>T	ENST00000404138.1	+	11	2498	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.E551*|ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.E663*	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	663					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTCATGCAGGAGTTGGCATA	0.502000													15	38					3.27435e-08	4.60217e-08	0.119110	1	0
CASR	846	broad.mit.edu	37	3	122002778	122002778	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:122002778C>T	ENST00000498619.1	+	7	2445	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	CASR_ENST00000490131.1_Silent_p.L659L|CASR_ENST00000296154.5_Silent_p.L659L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	659					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTCCCTGCTCTGCTGCTTCT	0.592000													8	87					0	0	0.058154	0	0
OR2T4	127074	broad.mit.edu	37	1	248525230	248525230	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:248525230C>G	ENST00000366475.1	+	1	348	c.348C>G	c.(346-348)gaC>gaG	p.D116E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	116					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)			TGCTCCTGGACCAGGTCATGG	0.498000													28	210					0	0	0.045705	0	0
DST	667	broad.mit.edu	37	6	56391248	56391248	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:56391248C>A	ENST00000370754.5	-	69	17946	c.17947G>T	c.(17947-17949)Gct>Tct	p.A5983S	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.A5479S|DST_ENST00000421834.2_Missense_Mutation_p.A3717S|DST_ENST00000361203.3_Missense_Mutation_p.A5694S|DST_ENST00000370769.4_Missense_Mutation_p.A5805S|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A3391S|DST_ENST00000370788.2_Missense_Mutation_p.A3608S			Q03001	DYST_HUMAN	dystonin	5803					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGTCCTCAGCTACCATTTTC	0.488000													21	118					2.89027e-11	4.58839e-11	0.069288	1	0
TMEM194A	23306	broad.mit.edu	37	12	57458497	57458497	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:57458497C>T	ENST00000300128.4	-	5	594	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TMEM194A_ENST00000379391.3_Missense_Mutation_p.G118R	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	191						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGTCATCCCAGTAGAGTAG	0.343000													48	75					0	0	0.139131	0	0
LINC01410	103352539	broad.mit.edu	37	9	66457535	66457535	+	RNA	SNP	T	T	C	rs74360065		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:66457535T>C	ENST00000424345.1	+	0	67																											TGTTTGCTTCTTTCTGTCTCC	0.562000													3	37					0	0	0.115264	0	0
KRT34	3885	broad.mit.edu	37	17	39538334	39538334	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:39538334G>T	ENST00000394001.1	-	1	321	c.291C>A	c.(289-291)agC>agA	p.S97R		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	97	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.S97S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCTTCTCGCTGCCATTGA	0.617000													24	90					1.77063e-15	3.14252e-15	0.108266	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554515	20554515	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:20554515C>A	ENST00000329697.6	-	11	1519	c.1351G>T	c.(1351-1353)Gat>Tat	p.D451Y	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D451Y|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D372Y|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D451Y	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	451					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCATCTTCATCTTTGATTCCC	0.488000													32	244					5.8336e-16	1.04374e-15	0.059317	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103018511	103018511	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:103018511G>C	ENST00000375735.2	+	19	2857	c.2713G>C	c.(2713-2715)Gta>Cta	p.V905L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V905L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	905	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGCTGTCAAGGTAGATTGTTT	0.308000													7	33					0	0	0.029380	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	13					0.000274275	0.000315226	0.047766	1	0
KRT31	3881	broad.mit.edu	37	17	39550416	39550416	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:39550416G>A	ENST00000251645.2	-	7	1155	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	368	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGATTGCTGGGCAGACTGGA	0.527000													7	40					0	0	0.029380	0	0
ANO4	121601	broad.mit.edu	37	12	101504194	101504194	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:101504194G>A	ENST00000392979.3	+	22	2418	c.2057G>A	c.(2056-2058)gGa>gAa	p.G686E	ANO4_ENST00000299222.9_Missense_Mutation_p.G241E|ANO4_ENST00000392977.3_Missense_Mutation_p.G721E|ANO4_ENST00000550015.1_Missense_Mutation_p.G241E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	721						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCAGTTTGGATTCACAACT	0.343000										HNSCC(74;0.22)			11	28					0	0	0.049695	0	0
EDIL3	10085	broad.mit.edu	37	5	83525686	83525686	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:83525686T>A	ENST00000296591.5	-	3	631	c.213A>T	c.(211-213)gaA>gaT	p.E71D	EDIL3_ENST00000380138.3_Intron	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	71					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTGAAGTTGGTTCTTCTTCAT	0.373000													12	30					0	0	0.093190	0	0
ZNF384	171017	broad.mit.edu	37	12	6788225	6788225	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:6788225C>A	ENST00000396795.1	-	3	688	c.191G>T	c.(190-192)gGc>gTc	p.G64V	ZNF384_ENST00000396801.3_Missense_Mutation_p.G64V|ZNF384_ENST00000361959.3_Missense_Mutation_p.G64V|ZNF384_ENST00000355772.4_Missense_Mutation_p.G64V|ZNF384_ENST00000319770.3_Missense_Mutation_p.G64V|ZNF384_ENST00000396799.2_Missense_Mutation_p.G64V			Q8TF68	ZN384_HUMAN	zinc finger protein 384	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CATACTGATGCCTGAGGGCAG	0.582000			T	"""EWSR1, TAF15 """	ALL								38	122					3.09479e-21	5.9384e-21	0.092188	1	0
SNAP25	6616	broad.mit.edu	37	20	10279989	10279989	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:10279989C>A	ENST00000254976.2	+	7	692	c.481C>A	c.(481-483)Cgt>Agt	p.R161S	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R161S|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	161	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CGGGAACCTCCGTCACATGGC	0.498000													16	122					1.52009e-12	2.49084e-12	0.132662	1	0
FOLR4	390243	broad.mit.edu	37	11	94040590	94040590	+	Splice_Site	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:94040590G>A	ENST00000440961.2	+	4	508	c.463_splice	c.e4-1	p.G155_splice		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	162						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCCCTGCAGGGAAGAACCGC	0.592000													16	68					0	0	0.132662	0	0
ELF1	1997	broad.mit.edu	37	13	41507924	41507924	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:41507924C>G	ENST00000239882.3	-	9	1811	c.1497G>C	c.(1495-1497)ttG>ttC	p.L499F	ELF1_ENST00000442101.1_Missense_Mutation_p.L475F|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	499					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GGGCAGGGCCCAAGACAATTG	0.488000													23	76					0	0	0.076483	0	0
C4orf50	389197	broad.mit.edu	37	4	5975502	5975502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:5975502C>A	ENST00000531445.1	-	4	1760	c.1714G>T	c.(1714-1716)Gag>Tag	p.E572*	C4orf50_ENST00000324058.5_Nonsense_Mutation_p.E98*			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	98										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGTGCAGCTCCTGCAGCAGG	0.632000													9	30					3.86212e-05	4.65705e-05	0.069234	1	0
COL4A5	1287	broad.mit.edu	37	X	107802318	107802318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:107802318G>T	ENST00000328300.6	+	3	410	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E56*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	56	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAGGTTTGGAAGGACACCC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				10	34					0.000673444	0.00076339	0.069234	1	0
DENND1B	163486	broad.mit.edu	37	1	197704716	197704716	+	Splice_Site	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:197704716T>A	ENST00000235453.4	-	3	329	c.52_splice	c.e3+1	p.N18_splice	DENND1B_ENST00000400967.2_Splice_Site_p.N18_splice|DENND1B_ENST00000367396.3_Intron			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	28						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGGGTATTACTCGAAAATACA	0.423000													14	28					0	0	0.146539	0	0
EPHB3	2049	broad.mit.edu	37	3	184295235	184295235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:184295235G>T	ENST00000330394.2	+	6	1911	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	487	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGACTACGAGATGAAGTA	0.597000													9	30					0.00621372	0.00673237	0.058154	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92848713	92848713	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:92848713A>G	ENST00000394468.2	-	2	208	c.131T>C	c.(130-132)gTc>gCc	p.V44A	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V32A|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.V67A|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.V32A	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	44						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTGACCTCTGACGCCATGGAC	0.527000													14	91					0	0	0.033300	0	0
FAT1	2195	broad.mit.edu	37	4	187542290	187542290	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:187542290T>C	ENST00000441802.2	-	10	5659	c.5450A>G	c.(5449-5451)cAc>cGc	p.H1817R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1817	Cadherin 16.				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						AAAATATGTGTGTACAGATGG	0.393000										HNSCC(5;0.00058)			7	35					0	0	0.047766	0	0
KCNU1	157855	broad.mit.edu	37	8	36691147	36691147	+	Silent	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:36691147A>C	ENST00000399881.3	+	11	1219	c.1182A>C	c.(1180-1182)gcA>gcC	p.A394A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	394	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGGATCTGCAATGAAGTGGG	0.398000													16	55					0	0	0.038395	0	0
KRT33B	3884	broad.mit.edu	37	17	39521463	39521463	+	Silent	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:39521463A>G	ENST00000251646.3	-	5	889	c.840T>C	c.(838-840)aaT>aaC	p.N280N		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	280	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCCAGGGCATTGACTGTGC	0.587000													7	171					0	0	0.146539	0	0
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A	rs143361250	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:148594434G>A	ENST00000442702.2	+	21	2874	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458000													4	386					0	0	0.029380	0	0
TRIM51	84767	broad.mit.edu	37	11	55653182	55653182	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55653182G>T	ENST00000449290.2	+	2	370	c.278G>T	c.(277-279)tGt>tTt	p.C93F		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	93						intracellular	zinc ion binding										GAGCAAATATGTGGGATGCAC	0.488000													7	19					8.12818e-05	9.66043e-05	0.029380	1	0
AOX1	316	broad.mit.edu	37	2	201499527	201499527	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:201499527G>T	ENST00000374700.2	+	21	2476	c.2235G>T	c.(2233-2235)atG>atT	p.M745I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	745					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAATACATATGGGAGGTCAAG	0.428000													3	34					0.115264	0.119226	0.115264	1	0
PPP1R17	10842	broad.mit.edu	37	7	31735162	31735162	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:31735162G>A	ENST00000342032.3	+	3	790	c.162G>A	c.(160-162)ctG>ctA	p.L54L	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	54					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AGGCCACCCTGAATGTTGAGT	0.423000													61	213					0	0	0.139131	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717114	222717114	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:222717114C>A	ENST00000343410.6	-	2	797	c.739G>T	c.(739-741)Gat>Tat	p.D247Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	247					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGACTCCCATCAGGGAGGTAG	0.592000													10	58					2.52707e-12	4.11037e-12	0.058154	1	0
TMEM200A	114801	broad.mit.edu	37	6	130761629	130761629	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:130761629G>C	ENST00000392429.1	+	2	2440	c.62G>C	c.(61-63)aGa>aCa	p.R21T	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R21T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R21T	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	21						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACTCTGCCAGATCACAGCAG	0.522000													40	133					0	0	0.139131	0	0
PRDM9	56979	broad.mit.edu	37	5	23522908	23522908	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:23522908G>T	ENST00000296682.3	+	8	978	c.796G>T	c.(796-798)Gat>Tat	p.D266Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	266	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.D266N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGAGGCATCTGATCTGCCGCT	0.582000										HNSCC(3;0.000094)			6	44					0.0215528	0.0227559	0.021553	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232564191	232564191	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:232564191G>A	ENST00000366630.1	-	16	4734	c.4376C>T	c.(4375-4377)cCt>cTt	p.P1459L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1459L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P533L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1459					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGGCTGTCAGGAAGCATCAA	0.413000													19	33					0	0	0.055883	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895294	42895294	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:42895294G>T	ENST00000399770.2	+	1	11	c.11G>T	c.(10-12)aGg>aTg	p.R4M		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	4					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGCTTAAAAGGGAGATGAAG	0.498000													5	47					3.09899e-07	4.13615e-07	0.047766	1	0
ELMOD1	55531	broad.mit.edu	37	11	107506376	107506376	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:107506376T>A	ENST00000265840.7	+	6	570	c.305T>A	c.(304-306)cTt>cAt	p.L102H	ELMOD1_ENST00000443271.2_Missense_Mutation_p.L102H|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L96H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	102					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCTCTTCAGGCTTGC	0.438000													19	80					0	0	0.091800	0	0
MMRN1	22915	broad.mit.edu	37	4	90872775	90872775	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:90872775T>A	ENST00000394980.1	+	8	3457	c.3138T>A	c.(3136-3138)agT>agA	p.S1046R	MMRN1_ENST00000508372.1_Missense_Mutation_p.S788R|MMRN1_ENST00000264790.2_Missense_Mutation_p.S1046R|MMRN1_ENST00000394981.1_Missense_Mutation_p.S349R			Q13201	MMRN1_HUMAN	multimerin 1	1046	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAGCTGTAGTCGGCATCCGT	0.433000													11	35					0	0	0.105934	0	0
RIMS2	9699	broad.mit.edu	37	8	105001565	105001565	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:105001565G>T	ENST00000507740.1	+	14	2572	c.2336G>T	c.(2335-2337)cGc>cTc	p.R779L	RIMS2_ENST00000436393.2_Missense_Mutation_p.R765L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R826L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R987L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1049					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAGGGACCCGCACTATGACC	0.378000										HNSCC(12;0.0054)			16	56					1.67942e-08	2.42216e-08	0.038395	1	0
MLLT10	8028	broad.mit.edu	37	10	21959419	21959419	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:21959419G>A	ENST00000377072.3	+	10	1185	c.837G>A	c.(835-837)ttG>ttA	p.L279L	MLLT10_ENST00000307729.7_Silent_p.L279L|MLLT10_ENST00000377059.3_Silent_p.L279L|MLLT10_ENST00000446906.2_Silent_p.L279L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	279	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTGGATCATTGAAGCGCTTGG	0.368000			T	"""MLL, PICALM, CDK6"""	AL								6	35					0	0	0.038147	0	0
MYOM1	8736	broad.mit.edu	37	18	3168821	3168821	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:3168821T>C	ENST00000356443.4	-	9	1666	c.1333A>G	c.(1333-1335)Aga>Gga	p.R445G	MYOM1_ENST00000261606.7_Missense_Mutation_p.R445G|MYOM1_ENST00000400569.3_Missense_Mutation_p.R445G	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	445	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACCGTTTCTGTACCACTGG	0.443000													17	26					0	0	0.062417	0	0
CSMD3	114788	broad.mit.edu	37	8	113529289	113529289	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:113529289C>A	ENST00000297405.5	-	28	4974	c.4730G>T	c.(4729-4731)tGg>tTg	p.W1577L	CSMD3_ENST00000455883.2_Missense_Mutation_p.W1473L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W1537L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1577L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1577	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGGGCTGCCAGAAGTACCG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	65					5.03518e-11	7.95535e-11	0.043863	1	0
ASIP	434	broad.mit.edu	37	20	32848270	32848270	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:32848270C>A	ENST00000568305.1	+	2	292	c.90C>A	c.(88-90)ctC>ctA	p.L30L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L30L			P42127	ASIP_HUMAN	agouti signaling protein	30					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						AGGAGAAGCTCCGAGATGACA	0.582000													21	61					2.98393e-07	4.01496e-07	0.076483	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863034	10863034	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:10863034G>T	ENST00000559480.1	+	0	330																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGAGGACACGGCCATGTATT	0.502000													18	255					1.78486e-19	3.35676e-19	0.043863	1	0
TXNDC16	57544	broad.mit.edu	37	14	53010265	53010265	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:53010265C>G	ENST00000281741.4	-	3	382	c.11G>C	c.(10-12)gGc>gCc	p.G4A	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	4					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GACATTGAAGCCGGAAAACAT	0.388000													9	40					0	0	0.047766	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061716	103061716	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:103061716G>T	ENST00000264260.2	+	9	1577	c.988G>T	c.(988-990)Gat>Tat	p.D330Y	IL18RAP_ENST00000409369.1_Missense_Mutation_p.D188Y	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	330	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CACTCAGCGTGATCTTCGCAG	0.408000													15	50					7.93312e-07	1.03789e-06	0.119110	1	0
RB1	5925	broad.mit.edu	37	13	49039354	49039354	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:49039354C>G	ENST00000267163.4	+	23	2477	c.2339C>G	c.(2338-2340)tCa>tGa	p.S780*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	780	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)	CCTACCTTGTCACCAATACCT	0.388000		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)			28	128					0	0	0.054565	0	0
HNF4G	3174	broad.mit.edu	37	8	76472657	76472657	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:76472657T>C	ENST00000396423.2	+	9	1296	c.1172T>C	c.(1171-1173)aTa>aCa	p.I391T	HNF4G_ENST00000354370.1_Missense_Mutation_p.I354T	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	354					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GGACAAACTATACTTTTAGGT	0.378000													7	47					0	0	0.038147	0	0
ADRA1B	147	broad.mit.edu	37	5	159344556	159344556	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:159344556C>T	ENST00000306675.3	+	1	767	c.644C>T	c.(643-645)cCt>cTt	p.P215L		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	215					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TTCTACATCCCTCTGGCGGTC	0.547000													17	73					0	0	0.043863	0	0
SNHG14	104472715	broad.mit.edu	37	15	25485057	25485057	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:25485057G>T	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA	NR_003343.1																						ATAGGATTACGCTGAGGCCCA	0.507000													20	59					7.41877e-09	1.08177e-08	0.062417	1	0
COL24A1	255631	broad.mit.edu	37	1	86377088	86377088	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:86377088C>A	ENST00000370571.2	-	25	2957	c.2591G>T	c.(2590-2592)gGg>gTg	p.G864V	COL24A1_ENST00000436319.1_Missense_Mutation_p.G864V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	864	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCAGTCATCCCAACTTCTCC	0.338000													13	62					4.3838e-07	5.81578e-07	0.105934	1	0
SPTBN4	57731	broad.mit.edu	37	19	41012243	41012243	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:41012243A>T	ENST00000352632.3	+	13	1852	c.1766A>T	c.(1765-1767)gAg>gTg	p.E589V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E589V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E589V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E589V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E589V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	589					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)			GCCCAGAGCGAGCGGGTGGAG	0.657000													15	41					0	0	0.146539	0	0
SPINK5	11005	broad.mit.edu	37	5	147481425	147481425	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:147481425G>A	ENST00000359874.3	+	15	1457	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	SPINK5_ENST00000398454.1_Missense_Mutation_p.D462N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D462N	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	462	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGAAAAAT	0.502000													18	55					0	0	0.069288	0	0
PIAS2	9063	broad.mit.edu	37	18	44416467	44416467	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:44416467C>A	ENST00000585916.1	-	9	1054	c.1055G>T	c.(1054-1056)aGg>aTg	p.R352M	PIAS2_ENST00000324794.7_Missense_Mutation_p.R352M|PIAS2_ENST00000545673.1_Missense_Mutation_p.R62M	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	352					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GATTGTCAGCCTCATTTTTCC	0.433000													17	87					1.01871e-10	1.57567e-10	0.049695	1	0
KLRK1	22914	broad.mit.edu	37	12	10532362	10532362	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:10532362C>T	ENST00000240618.6	-	4	318	c.178G>A	c.(178-180)Gct>Act	p.A60T	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.A60T|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	60					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATGGCTACAGCGATGAAGCAG	0.353000													3	51					0	0	0.115264	0	0
KIF20A	10112	broad.mit.edu	37	5	137521276	137521276	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:137521276T>G	ENST00000394894.3	+	16	2228	c.2002T>G	c.(2002-2004)Tca>Gca	p.S668A	KIF20A_ENST00000508792.1_Missense_Mutation_p.S650A	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	668					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCATCAGCAATCAGGGTCTGA	0.517000													23	58					0	0	0.069456	0	0
F2RL2	2151	broad.mit.edu	37	5	75914185	75914185	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:75914185A>C	ENST00000296641.4	-	2	550	c.347T>G	c.(346-348)cTg>cGg	p.L116R	IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L94R|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	116					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAGCATCCACAGGGTCACAGC	0.473000													19	56					0	0	0.055883	0	0
TMEM130	222865	broad.mit.edu	37	7	98449144	98449144	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:98449144G>T	ENST00000450876.1	-	6	1969	c.654C>A	c.(652-654)acC>acA	p.T218T	TMEM130_ENST00000339375.4_Silent_p.T302T|TMEM130_ENST00000416379.2_Silent_p.T302T|TMEM130_ENST00000546258.1_Silent_p.T283T|TMEM130_ENST00000345589.4_Silent_p.T200T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	302	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAAGGTGTGGGTCAGGTTGT	0.602000													8	47					5.18039e-06	6.59504e-06	0.038147	1	0
SSPO	23145	broad.mit.edu	37	7	149489266	149489266	+	RNA	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:149489266C>G	ENST00000378016.2	+	0	5511							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTCACGTGCCCACCTGATT	0.662000													4	3					0	0	0.009096	0	0
C2orf16	84226	broad.mit.edu	37	2	27804470	27804470	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:27804470C>T	ENST00000408964.2	+	1	5082	c.5031C>T	c.(5029-5031)agC>agT	p.S1677S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1677	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCAGAGGAGCCATCGCGGTC	0.567000													26	112					0	0	0.091800	0	0
CAPN3	825	broad.mit.edu	37	15	42652037	42652037	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:42652037A>G	ENST00000397163.3	+	1	253	c.34A>G	c.(34-36)Agg>Ggg	p.R12G	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R12G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R12G|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.R12G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	12					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGTGGCTCCAAGGACAGCGGC	0.547000													15	43					0	0	0.049695	0	0
LRP1B	53353	broad.mit.edu	37	2	141625180	141625180	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:141625180G>T	ENST00000389484.3	-	27	5529	c.4558C>A	c.(4558-4560)Cat>Aat	p.H1520N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1520					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)		CGACTGGGATGGTATATCTGA	0.408000										TSP Lung(27;0.18)			8	43					0.000274275	0.000315226	0.047766	1	0
ACPL2	92370	broad.mit.edu	37	3	141011154	141011154	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:141011154T>A	ENST00000508812.1	+	5	2430	c.523T>A	c.(523-525)Tat>Aat	p.Y175N	ACPL2_ENST00000504264.1_Missense_Mutation_p.Y167N|ACPL2_ENST00000502783.1_Missense_Mutation_p.Y146N|ACPL2_ENST00000286353.4_Missense_Mutation_p.Y184N|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.Y184N|ACPL2_ENST00000393007.1_Missense_Mutation_p.Y168N			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	184						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGGGATATCTATCTAAAGAA	0.478000													58	133					0	0	0.139131	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777820	110777820	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:110777820A>T	ENST00000368919.3	-	2	520	c.454T>A	c.(454-456)Tgg>Agg	p.W152R	SLC22A16_ENST00000439654.1_Missense_Mutation_p.W152R|SLC22A16_ENST00000456137.2_Missense_Mutation_p.W152R|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W118R|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	152					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATTGCAAGCCATTTTCGGTCA	0.443000													20	50					0	0	0.043863	0	0
TMEM47	83604	broad.mit.edu	37	X	34657371	34657371	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:34657371A>T	ENST00000275954.3	-	2	618	c.360T>A	c.(358-360)ttT>ttA	p.F120L		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	120						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TACCTGCTGCAAAAAGCATGA	0.433000													4	6					0	0	0.014758	0	0
CACNG3	10368	broad.mit.edu	37	16	24372937	24372937	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:24372937G>A	ENST00000005284.3	+	4	1903	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	234					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TTCCGGAGGCGGTCAAGTTCT	0.542000													22	79					0	0	0.062417	0	0
TRAV24	28659	broad.mit.edu	37	14	22573895	22573895	+	RNA	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:22573895G>C	ENST00000390453.1	+	0	115																											TCAGGAGGGAGACAGCACCAA	0.448000													5	19					0	0	0.029380	0	0
NBAS	51594	broad.mit.edu	37	2	15432849	15432849	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:15432849C>A	ENST00000281513.5	-	41	4864	c.4839G>T	c.(4837-4839)gtG>gtT	p.V1613V	NBAS_ENST00000441750.1_Silent_p.V1493V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1613										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATGTCGAGTCACATGCCTGG	0.453000													13	31					4.75885e-15	8.33428e-15	0.033300	1	0
UNC79	57578	broad.mit.edu	37	14	94007178	94007178	+	Splice_Site	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:94007178G>C	ENST00000553484.1	+	13	1678		c.e13+1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGGTTCTTAGTAAGAAAAAG	0.363000													7	34					0	0	0.038147	0	0
MTUS1	57509	broad.mit.edu	37	8	17542025	17542025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:17542025G>A	ENST00000381869.3	-	6	2961	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	MTUS1_ENST00000262102.6_Nonsense_Mutation_p.R884*|MTUS1_ENST00000381861.3_Nonsense_Mutation_p.R131*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.R830*|MTUS1_ENST00000297488.6_Nonsense_Mutation_p.R50*|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000544260.1_Nonsense_Mutation_p.R29*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	884						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)		CATAAGCTTCGAGGATTCTTT	0.398000													40	74					0	0	0.098360	0	0
IARS	3376	broad.mit.edu	37	9	95007245	95007245	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:95007245G>A	ENST00000375643.3	-	27	3166	c.2900C>T	c.(2899-2901)gCt>gTt	p.A967V	IARS_ENST00000375627.1_Missense_Mutation_p.A20V|IARS_ENST00000443024.2_Missense_Mutation_p.A967V|IARS_ENST00000375629.3_Missense_Mutation_p.A20V|IARS_ENST00000447699.2_Missense_Mutation_p.A857V	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	967					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTG	0.448000													5	27					0	0	0.021553	0	0
TCP10	6953	broad.mit.edu	37	6	167791570	167791570	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:167791570G>T	ENST00000366827.2	-	4	501	c.290C>A	c.(289-291)cCt>cAt	p.P97H	TCP10_ENST00000397829.4_Missense_Mutation_p.P97H			Q12799	TCP10_HUMAN	t-complex 10	124						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCCAAAAGCAGGTTCCAATGC	0.388000													7	36					1.26484e-09	1.89441e-09	0.038147	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113658766	113658766	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:113658766G>A	ENST00000358160.4	+	16	2217	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.L408L|GRAMD1C_ENST00000440446.2_Silent_p.L370L|GRAMD1C_ENST00000452134.2_Silent_p.L304L	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	575						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATGTGACACTGTTTCTGAAGC	0.388000													17	78					0	0	0.049695	0	0
CCDC39	339829	broad.mit.edu	37	3	180366106	180366106	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:180366106A>T	ENST00000273654.4	-	16	2080	c.1461T>A	c.(1459-1461)ttT>ttA	p.F487L	CCDC39_ENST00000442201.2_Missense_Mutation_p.F403L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	403					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCTTTCTTAAACAGCACAC	0.323000													43	73					0	0	0.139131	0	0
RNF128	79589	broad.mit.edu	37	X	106016175	106016175	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:106016175A>C	ENST00000255499.2	+	2	767	c.517A>C	c.(517-519)Aat>Cat	p.N173H	RNF128_ENST00000324342.3_Missense_Mutation_p.N147H	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	173	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CATGATCGGCAATCTGAAAGG	0.353000													30	79					0	0	0.045705	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42158947	42158947	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:42158947G>T	ENST00000444063.1	+	7	942	c.810G>T	c.(808-810)ctG>ctT	p.L270L	L3MBTL1_ENST00000427442.2_Silent_p.L338L|L3MBTL1_ENST00000373135.3_Silent_p.L270L|L3MBTL1_ENST00000373134.1_Silent_p.L270L|L3MBTL1_ENST00000418998.1_Silent_p.L338L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	270					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTACGCCTGCACTTTGATG	0.582000													16	117					1.01871e-10	1.57567e-10	0.049695	1	0
FCRL3	115352	broad.mit.edu	37	1	157666024	157666024	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:157666024T>A	ENST00000368184.3	-	7	1229	c.938A>T	c.(937-939)cAg>cTg	p.Q313L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.Q313L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCCTGAACCCTGGGCTACTGA	0.527000													62	145					0	0	0.139131	0	0
ATP11C	286410	broad.mit.edu	37	X	138864752	138864752	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:138864752T>C	ENST00000370557.1	-	18	2933	c.1906A>G	c.(1906-1908)Att>Gtt	p.I636V	ATP11C_ENST00000359686.2_Missense_Mutation_p.I639V|ATP11C_ENST00000370543.1_Missense_Mutation_p.I639V|ATP11C_ENST00000361648.2_Missense_Mutation_p.I639V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.I639V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	639					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTGTCTCAATATCATCGAAA	0.333000													13	20					0	0	0.119110	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810506	140810506	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:140810506G>T	ENST00000252085.3	+	1	322	c.180G>T	c.(178-180)gcG>gcT	p.A60A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTCGCGGAGCGCGGAG	0.652000													21	28					4.35082e-09	6.45794e-09	0.055883	1	0
TP53	7157	broad.mit.edu	37	17	7578205	7578205	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:7578205C>A	ENST00000420246.2	-	6	776	c.644G>T	c.(643-645)aGt>aTt	p.S215I	TP53_ENST00000445888.2_Missense_Mutation_p.S215I|TP53_ENST00000455263.2_Missense_Mutation_p.S215I|TP53_ENST00000359597.4_Missense_Mutation_p.S215I|TP53_ENST00000413465.2_Missense_Mutation_p.S215I|TP53_ENST00000269305.4_Missense_Mutation_p.S215I|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.S215I(18)|p.S215N(9)|p.0?(8)|p.?(5)|p.S215T(3)|p.S215fs*32(3)|p.H214fs*5(2)|p.S122N(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.S215_V218>M(1)|p.R209fs*6(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)		CACCACCACACTATGTCGAAA	0.537000		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)			8	28					4.68919e-08	6.53525e-08	0.069234	1	0
FGG	2266	broad.mit.edu	37	4	155528068	155528068	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:155528068G>A	ENST00000404648.3	-	8	1157	c.918C>T	c.(916-918)taC>taT	p.Y306Y	FGG_ENST00000336098.3_Silent_p.Y306Y|FGG_ENST00000405164.1_Silent_p.Y314Y|FGG_ENST00000407946.1_Silent_p.Y314Y	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	306	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CACCAGCGAAGTAGGCATATG	0.463000													33	107					0	0	0.064281	0	0
KNDC1	85442	broad.mit.edu	37	10	135027499	135027499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:135027499C>A	ENST00000304613.3	+	26	4571	c.4550C>A	c.(4549-4551)tCg>tAg	p.S1517*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.S1519*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1517	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGTCTCTTTCGGCCAAAACC	0.552000													8	23					0.00621372	0.00673237	0.058154	1	0
PAK3	5063	broad.mit.edu	37	X	110406155	110406155	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:110406155G>T	ENST00000519681.1	+	10	986	c.544G>T	c.(544-546)Gca>Tca	p.A182S	PAK3_ENST00000372010.1_Missense_Mutation_p.A176S|PAK3_ENST00000417227.1_Missense_Mutation_p.A182S|PAK3_ENST00000360648.4_Missense_Mutation_p.A197S|PAK3_ENST00000372007.4_Missense_Mutation_p.A161S|PAK3_ENST00000518291.1_Missense_Mutation_p.A197S|PAK3_ENST00000262836.4_Missense_Mutation_p.A176S|PAK3_ENST00000446737.1_Missense_Mutation_p.A161S|PAK3_ENST00000425146.1_Missense_Mutation_p.A161S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	176	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TACAAAAACAGCATCTGAGCC	0.378000										TSP Lung(19;0.15)			35	106					4.65686e-17	8.49268e-17	0.064281	1	0
MAP1B	4131	broad.mit.edu	37	5	71492142	71492142	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:71492142G>A	ENST00000296755.7	+	5	3258	c.2960G>A	c.(2959-2961)aGg>aAg	p.R987K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	987						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCATACATCAGGGAGAAGAGG	0.562000													21	123					0	0	0.091800	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417209	113417209	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:113417209A>G	ENST00000272542.3	+	8	2016	c.1477A>G	c.(1477-1479)Aga>Gga	p.R493G		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	493					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTAGGTGACAGAAAAGGAAG	0.473000													31	148					0	0	0.144211	0	0
OR2D2	120776	broad.mit.edu	37	11	6913634	6913634	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:6913634C>A	ENST00000299459.2	-	1	196	c.98G>T	c.(97-99)gGt>gTt	p.G33V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGTAGACACCCAATAATAC	0.443000													19	55					2.98393e-07	4.01496e-07	0.076483	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886052	88886052	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:88886052G>A	ENST00000319675.3	-	1	244	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	50										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCTTACACGCAGCTCGCGA	0.502000													14	48					0	0	0.132662	0	0
SZT2	23334	broad.mit.edu	37	1	43897569	43897569	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:43897569G>T	ENST00000562955.1	+	35	5100	c.5100G>T	c.(5098-5100)aaG>aaT	p.K1700N	SZT2_ENST00000372442.1_Missense_Mutation_p.K858N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1757						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACAATTCAAGGAGGTAAGTT	0.567000													10	57					0.00185496	0.00206384	0.105934	1	0
TEX15	56154	broad.mit.edu	37	8	30704309	30704309	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:30704309C>G	ENST00000256246.2	-	1	2299	c.2225G>C	c.(2224-2226)aGt>aCt	p.S742T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	742										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGCTGATCACTATTCTCCCT	0.383000													6	32					0	0	0.038147	0	0
NEBL	10529	broad.mit.edu	37	10	21147170	21147170	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:21147170C>A	ENST00000377122.4	-	9	1298	c.903_splice	c.e9+1	p.G301_splice	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	301					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCACTTACGCCGCTGAGCAT	0.443000													15	36					3.27435e-08	4.60217e-08	0.119110	1	0
NME6	10201	broad.mit.edu	37	3	48337625	48337625	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:48337625C>T	ENST00000421967.1	-	4	286	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	NME6_ENST00000450160.1_Intron|NME6_ENST00000435684.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.V73M|NME6_ENST00000426689.2_Missense_Mutation_p.V73M|NME6_ENST00000426723.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.V73M|NME6_ENST00000447314.1_Missense_Mutation_p.V28M|NME6_ENST00000444069.1_Intron|NME6_ENST00000415644.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000452211.1_Missense_Mutation_p.V73M|NME6_ENST00000451657.1_Intron	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	73					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		ATGAACTCCACCAGCCTCTGA	0.463000													22	40					0	0	0.099896	0	0
RFX3	5991	broad.mit.edu	37	9	3270426	3270426	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:3270426C>A	ENST00000382004.3	-	12	1613	c.1302G>T	c.(1300-1302)ggG>ggT	p.G434G	RFX3_ENST00000358730.2_Silent_p.G434G|RFX3_ENST00000302303.1_Silent_p.G434G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	434					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CCTGGTACATCCCATGGTCAC	0.433000													23	63					2.89027e-11	4.58839e-11	0.069288	1	0
C7orf63	79846	broad.mit.edu	37	7	89887465	89887465	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:89887465T>C	ENST00000389297.4	+	3	485	c.234T>C	c.(232-234)taT>taC	p.Y78Y	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.Y78Y|C7orf63_ENST00000316089.8_Silent_p.Y78Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	78							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACAGTGTTATCAGAATGGAC	0.289000													7	31					0	0	0.058154	0	0
GPR85	54329	broad.mit.edu	37	7	112724006	112724006	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:112724006C>A	ENST00000501255.2	-	3	1394	c.771G>T	c.(769-771)ctG>ctT	p.L257L	GPR85_ENST00000424100.1_Silent_p.L257L|GPR85_ENST00000449591.1_Silent_p.L257L|GPR85_ENST00000297146.2_Silent_p.L257L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	257						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCTGATGCCCAGCAAGGTGG	0.493000													23	80					6.44725e-10	9.81168e-10	0.069288	1	0
CPNE6	9362	broad.mit.edu	37	14	24542767	24542767	+	Silent	SNP	C	C	A	rs143428110		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:24542767C>A	ENST00000397016.2	+	4	539	c.228C>A	c.(226-228)gcC>gcA	p.A76A	CPNE6_ENST00000216775.2_Silent_p.A76A|CPNE6_ENST00000537691.1_Silent_p.A131A|CPNE6_ENST00000560092.1_3'UTR			O95741	CPNE6_HUMAN	copine VI (neuronal)	76	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	p.A76A(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGTGCTGGCCCTTGAGTATT	0.592000													15	65					3.41278e-10	5.24191e-10	0.033300	1	0
SKP2	6502	broad.mit.edu	37	5	36184065	36184065	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:36184065T>C	ENST00000274254.5	+	10	1459	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGTAATCTGTATTTTTGTAT	0.333000													6	129					0	0	0.047766	0	0
RYR2	6262	broad.mit.edu	37	1	237777471	237777471	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:237777471T>C	ENST00000366574.2	+	37	5360	c.5043T>C	c.(5041-5043)gaT>gaC	p.D1681D	RYR2_ENST00000542537.1_Silent_p.D1665D|RYR2_ENST00000360064.6_Silent_p.D1679D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1681	4 X approximate repeats.				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)			GCCATGTGGATGAACCTCAGC	0.532000													18	77					0	0	0.055883	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018831	14018831	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:14018831G>T	ENST00000279593.3	-	2	521	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	104					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGCTTCCTGGTCTGTGTCAT	0.537000													37	105					2.75727e-19	5.17086e-19	0.074837	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603790	13603790	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:13603790T>C	ENST00000040738.5	-	10	4869	c.4734A>G	c.(4732-4734)gcA>gcG	p.A1578A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1578							DNA binding										CACTGGCTTCTGCACCAACAT	0.473000													7	28					0	0	0.047766	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835857	12835857	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:12835857C>A	ENST00000357726.4	+	2	486	c.459C>A	c.(457-459)ttC>ttA	p.F153L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	153										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTTGCTTCAAGAATGGGA	0.542000													17	101					5.35267e-07	7.08693e-07	0.043863	1	0
USH2A	7399	broad.mit.edu	37	1	215987217	215987217	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:215987217G>T	ENST00000366943.2	-	49	9986	c.9600C>A	c.(9598-9600)ccC>ccA	p.P3200P	USH2A_ENST00000307340.3_Silent_p.P3200P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3200	Fibronectin type-III 18.				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)		GTCCAGGCTTGGGGTTATAGA	0.393000										HNSCC(13;0.011)			28	70					2.08457e-15	3.6898e-15	0.045705	1	0
OR4K15	81127	broad.mit.edu	37	14	20444116	20444116	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:20444116T>A	ENST00000305051.5	+	1	514	c.439T>A	c.(439-441)Tat>Aat	p.Y147N		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGACCGTTATGTTGCTAT	0.458000													28	84					0	0	0.108266	0	0
LRP1B	53353	broad.mit.edu	37	2	141641525	141641525	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:141641525A>T	ENST00000389484.3	-	25	5001	c.4030T>A	c.(4030-4032)Tgg>Agg	p.W1344R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1344					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)		CCTGCTATCCAGTCGACTGTC	0.478000										TSP Lung(27;0.18)			11	37					0	0	0.119110	0	0
OR4C16	219428	broad.mit.edu	37	11	55340430	55340430	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55340430G>C	ENST00000314634.3	+	1	827	c.827G>C	c.(826-828)gGa>gCa	p.G276A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATACAGTTGGAACATCTTTT	0.388000													16	37					0	0	0.033300	0	0
ASIC2	40	broad.mit.edu	37	17	31438993	31438993	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:31438993C>A	ENST00000225823.2	-	2	1673	c.801G>T	c.(799-801)ggG>ggT	p.G267G	ASIC2_ENST00000359872.6_Silent_p.G216G|ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	216					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGATCTCCAGCCCGTTGCCTG	0.557000													20	77					1.9806e-07	2.69231e-07	0.069288	1	0
MTUS2	23281	broad.mit.edu	37	13	29855903	29855903	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:29855903C>A	ENST00000431530.3	+	4	2795	c.2737C>A	c.(2737-2739)Ccc>Acc	p.P913T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	903	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TAAGGACACACCCAAGGGGGC	0.562000													6	31					0.000274275	0.000315226	0.047766	1	0
BPIFC	254240	broad.mit.edu	37	22	32841968	32841968	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr22:32841968C>A	ENST00000397452.1	-	5	500	c.390G>T	c.(388-390)ggG>ggT	p.G130G	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.G130G|BPIFC_ENST00000534972.1_Intron			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	130						extracellular region	lipopolysaccharide binding|phospholipid binding	p.G130G(1)									ACAGATCAGCCCCTCCTGTGT	0.478000													9	33					4.68919e-08	6.53525e-08	0.069234	1	0
SYN2	6854	broad.mit.edu	37	3	12209921	12209921	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:12209921G>T	ENST00000432424.2	+	0	1273							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TTGGCGGCCTGGACATCTGTG	0.498000													12	53					3.45872e-05	4.20895e-05	0.146539	1	0
VRK1	7443	broad.mit.edu	37	14	97304098	97304098	+	Splice_Site	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:97304098G>T	ENST00000216639.3	+	3	309		c.e3-1			NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1							cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTTTTAAACAGCTGATATGAA	0.274000													9	37					0.000673444	0.00076339	0.069234	1	0
CADM2	253559	broad.mit.edu	37	3	85984933	85984933	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:85984933G>T	ENST00000383699.3	+	7	1344	c.717G>T	c.(715-717)aaG>aaT	p.K239N	CADM2_ENST00000405615.2_Missense_Mutation_p.K232N|CADM2_ENST00000407528.2_Missense_Mutation_p.K230N	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	230	Ig-like C2-type 2.				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)		CATCAGTTAAGATTATACCAT	0.323000													19	46					3.73194e-20	7.09926e-20	0.055883	1	0
PTHLH	5744	broad.mit.edu	37	12	28116330	28116330	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:28116330C>T	ENST00000535992.1	-	3	821	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	PTHLH_ENST00000201015.4_Missense_Mutation_p.G159R|PTHLH_ENST00000545234.1_Missense_Mutation_p.G159R|PTHLH_ENST00000539239.1_Missense_Mutation_p.G159R|PTHLH_ENST00000395872.1_Missense_Mutation_p.G159R|PTHLH_ENST00000354417.3_Missense_Mutation_p.G159R|PTHLH_ENST00000395868.3_Missense_Mutation_p.G159R|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.G159R			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	159					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AGGTGGTCCCCTTCTAGCCCA	0.577000													59	60					0	0	0.139131	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172211	21172211	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:21172211T>A	ENST00000421593.2	+	2	115	c.115T>A	c.(115-117)Tac>Aac	p.Y39N	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTTGTAAGTTACTTTGGATC	0.338000													8	41					0	0	0.038147	0	0
CDH20	28316	broad.mit.edu	37	18	59221602	59221602	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:59221602G>T	ENST00000262717.4	+	12	2478	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	CDH20_ENST00000538374.1_Missense_Mutation_p.A694S|CDH20_ENST00000536675.2_Missense_Mutation_p.A694S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	694				A -> G (in Ref. 1; AAG23739).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGCGGGGGCCGCCCCCAAGAC	0.687000													5	14					5.18039e-06	6.59504e-06	0.038147	1	0
FUT4	2526	broad.mit.edu	37	11	94278601	94278601	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:94278601G>A	ENST00000358752.2	+	1	1585	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	434					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCTCGCTGGGGCGGTGCCGG	0.632000													4	13					0	0	0.029380	0	0
C9	735	broad.mit.edu	37	5	39316033	39316033	+	Silent	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:39316033A>C	ENST00000263408.4	-	6	809	c.714T>G	c.(712-714)gcT>gcG	p.A238A	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	238	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTAGAGATATAGCTGCATTAA	0.353000													10	57					0	0	0.069234	0	0
TTN	7273	broad.mit.edu	37	2	179581898	179581898	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:179581898G>A	ENST00000589042.1	-	88	25787	c.25563C>T	c.(25561-25563)ggC>ggT	p.G8521G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G7277G|TTN_ENST00000591111.1_Silent_p.G8204G|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8204	Ig-like 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCGGCATCGCCTTTGCCTA	0.488000													4	47					0	0	0.014758	0	0
IDE	3416	broad.mit.edu	37	10	94246967	94246967	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:94246967G>A	ENST00000265986.6	-	13	1698	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	548					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAAGAGCAGGGTATGGTGTC	0.358000													11	40					0	0	0.105934	0	0
COL6A3	1293	broad.mit.edu	37	2	238303320	238303320	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:238303320G>T	ENST00000295550.4	-	3	1071	c.619C>A	c.(619-621)Cat>Aat	p.H207N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.H207N|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.H207N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	207	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTATGTCATGAAGTGAGGTA	0.433000													9	22					2.17888e-05	2.68107e-05	0.058154	1	0
ZNF876P	642280	broad.mit.edu	37	4	248209	248209	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:248209G>T	ENST00000356347.3	+	0	1033					NR_027481.1																						TCATACTGGTGAGAAACCCTA	0.368000													11	62					3.07112e-06	3.94008e-06	0.080935	1	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183674	14183674	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:14183674C>A	ENST00000581935.1	+	0	525																				lung(3)	3						TTGGCCTGTGCCAGTGGCCAT	0.378000													4	119					0.00198382	0.00218881	0.029380	1	0
ZNF98	148198	broad.mit.edu	37	19	22574465	22574465	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:22574465G>T	ENST00000357774.5	-	4	1693	c.1572C>A	c.(1570-1572)ggC>ggA	p.G524G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAAGGCTTTGCCGCATTCTT	0.383000													10	34					7.03913e-09	1.02868e-08	0.093190	1	0
NR1H3	10062	broad.mit.edu	37	11	47281993	47281993	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:47281993C>T	ENST00000467728.1	+	3	1504	c.266C>T	c.(265-267)gCc>gTc	p.A89V	NR1H3_ENST00000405853.3_Missense_Mutation_p.A89V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A89V|NR1H3_ENST00000405576.1_Missense_Mutation_p.A44V|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.A44V|NR1H3_ENST00000441012.2_Missense_Mutation_p.A89V|NR1H3_ENST00000395397.3_Missense_Mutation_p.A44V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	89					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGGGGCCAGCCCCCAAAATG	0.557000													30	94					0	0	0.144211	0	0
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.G202G	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328000													3	26					0.115264	0.119226	0.115264	1	0
TRPV6	55503	broad.mit.edu	37	7	142572354	142572354	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:142572354T>C	ENST00000359396.3	-	11	1587	c.1342A>G	c.(1342-1344)Agc>Ggc	p.S448G		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	448					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACCTCCCCGCTGGCACTGATG	0.597000													5	29					0	0	0.029380	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316907	38316907	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:38316907G>T	ENST00000311856.4	+	5	902	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	SLC22A13_ENST00000450935.2_Missense_Mutation_p.G192V	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	285						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGGGAGGATGGACGAGGCGAT	0.617000													9	27					1.76689e-08	2.52087e-08	0.058154	1	0
ASPM	259266	broad.mit.edu	37	1	197093426	197093426	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:197093426T>A	ENST00000367409.4	-	13	3460	c.3204A>T	c.(3202-3204)gaA>gaT	p.E1068D	ASPM_ENST00000294732.7_Missense_Mutation_p.E1068D|ASPM_ENST00000367408.1_Missense_Mutation_p.E318D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1068					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGCAATTTCTTCCTTTAATT	0.284000													5	30					0	0	0.014758	0	0
TANK	10010	broad.mit.edu	37	2	162087711	162087711	+	Silent	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:162087711A>G	ENST00000392749.2	+	7	989	c.750A>G	c.(748-750)ccA>ccG	p.P250P	AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Silent_p.P250P|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000259075.2_Silent_p.P250P	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	250						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						ATAGCACTCCAGAGAGACCCG	0.433000													15	105					0	0	0.043863	0	0
CHAT	1103	broad.mit.edu	37	10	50859935	50859935	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:50859935T>A	ENST00000395562.2	+	12	1740	c.1271T>A	c.(1270-1272)gTa>gAa	p.V424E	CHAT_ENST00000337653.2_Missense_Mutation_p.V506E|CHAT_ENST00000455728.2_Missense_Mutation_p.V388E|CHAT_ENST00000395559.2_Missense_Mutation_p.V388E|CHAT_ENST00000351556.3_Missense_Mutation_p.V388E|CHAT_ENST00000339797.1_Missense_Mutation_p.V388E	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	506					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTCAGAATAGTAAAGAACCTT	0.428000													12	27					0	0	0.093190	0	0
OR56A3	390083	broad.mit.edu	37	11	5969402	5969402	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:5969402G>T	ENST00000329564.6	+	1	833	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCCTGATGTGCCAGTCTT	0.488000													28	98					1.75199e-13	2.92145e-13	0.125774	1	0
SRSF11	9295	broad.mit.edu	37	1	70700421	70700421	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:70700421G>T	ENST00000370950.3	+	5	572	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	SRSF11_ENST00000370951.1_Missense_Mutation_p.D164Y|SRSF11_ENST00000405432.1_Missense_Mutation_p.D164Y|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.D104Y			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	164					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						TCCTACTCTTGATCCTGCCCT	0.423000													17	63					3.32936e-07	4.43468e-07	0.038395	1	0
LPPR4	9890	broad.mit.edu	37	1	99753626	99753626	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:99753626A>T	ENST00000370185.3	+	2	825	c.328A>T	c.(328-330)Atg>Ttg	p.M110L	LPPR4_ENST00000457765.1_Missense_Mutation_p.M110L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		110							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAGTCTTAGCATGCCGTACAT	0.458000													10	76					0	0	0.080935	0	0
ARAP2	116984	broad.mit.edu	37	4	36230755	36230755	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:36230755C>T	ENST00000303965.4	-	2	843	c.354G>A	c.(352-354)ccG>ccA	p.P118P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	118					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCCAACTGCGGTGGGCTAG	0.423000													8	79					0	0	0.038147	0	0
NPAS4	266743	broad.mit.edu	37	11	66192520	66192520	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:66192520C>T	ENST00000311034.2	+	7	2335	c.2159C>T	c.(2158-2160)cCa>cTa	p.P720L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCTCTACCCCAGATCCCAGT	0.582000													12	36					0	0	0.119110	0	0
KCNB2	9312	broad.mit.edu	37	8	73480016	73480016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:73480016C>A	ENST00000523207.1	+	2	635	c.47C>A	c.(46-48)tCg>tAg	p.S16*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	16					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTCAAGGTCGACACTTTCC	0.512000													31	186					3.90053e-15	6.86742e-15	0.050027	1	0
LCE2A	353139	broad.mit.edu	37	1	152671551	152671551	+	Silent	SNP	C	C	A	rs61812672		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:152671551C>A	ENST00000368779.1	+	2	225	c.174C>A	c.(172-174)ggC>ggA	p.G58G		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	58	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGCTGCTGCAGCT	0.677000													13	38					1.56452e-12	2.55102e-12	0.043863	1	0
HERC6	55008	broad.mit.edu	37	4	89318022	89318022	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:89318022G>T	ENST00000380265.5	+	7	1090	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	HERC6_ENST00000264346.7_Missense_Mutation_p.V303L|HERC6_ENST00000273960.3_Intron	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	303					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCTGGCATATGTGCACACCAC	0.448000													12	47					7.03913e-09	1.02868e-08	0.093190	1	0
SPANXN3	139067	broad.mit.edu	37	X	142596806	142596806	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:142596806G>A	ENST00000370503.2	-	2	347	c.264C>T	c.(262-264)ggC>ggT	p.G88G	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	88										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGTCTACGCCTTCGTCCT	0.428000													129	392					0	0	0.139131	0	0
UBXN10	127733	broad.mit.edu	37	1	20517886	20517886	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:20517886G>T	ENST00000375099.3	+	2	916	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	278										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGATGGGGAAGGGTGGCCCTG	0.582000													21	97					2.98393e-07	4.01496e-07	0.076483	1	0
AMY1A	276	broad.mit.edu	37	1	104203099	104203099	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:104203099T>G	ENST00000370083.4	+	7	1216	c.996T>G	c.(994-996)gaT>gaG	p.D332E		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2			amylase, alpha 1A (salivary)														all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CCTTCTGGGATGCTAGGTAAA	0.383000													38	422					0	0	0.139131	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616186	13616186	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:13616186C>G	ENST00000040738.5	-	4	943	c.808G>C	c.(808-810)Gga>Cga	p.G270R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	270							DNA binding										GTTTCCAGTCCTTCACCTCCA	0.413000													11	44					0	0	0.080935	0	0
TTN	7273	broad.mit.edu	37	2	179596851	179596851	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:179596851C>T	ENST00000589042.1	-	57	17069	c.16845G>A	c.(16843-16845)atG>atA	p.M5615I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M4371I|TTN_ENST00000591111.1_Missense_Mutation_p.M5298I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5298	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCTCACACATATATTCAC	0.443000													24	126					0	0	0.083992	0	0
HOXA2	3199	broad.mit.edu	37	7	27140754	27140754	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:27140754C>A	ENST00000222718.5	-	2	1032	c.722G>T	c.(721-723)gGg>gTg	p.G241V		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	241						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CAGAAGGGCCCCAGAGACGCT	0.527000													15	39					2.61681e-11	4.18437e-11	0.119110	1	0
KIAA1755	85449	broad.mit.edu	37	20	36868037	36868037	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:36868037C>A	ENST00000279024.4	-	4	1911	c.1640G>T	c.(1639-1641)gGc>gTc	p.G547V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	547										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTCTGGGGAGCCTGCAGAAGC	0.602000													27	109					6.04164e-23	1.16946e-22	0.045705	1	0
GJA4	2701	broad.mit.edu	37	1	35260337	35260337	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:35260337C>A	ENST00000342280.4	+	2	611	c.523C>A	c.(523-525)Cgc>Agc	p.R175S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	175					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCCAGTGGCGCCTGTACGG	0.622000													5	13					0.00198382	0.00218881	0.029380	1	0
SEMA3A	10371	broad.mit.edu	37	7	83590815	83590815	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:83590815G>T	ENST00000265362.3	-	17	2502	c.2188C>A	c.(2188-2190)Cga>Aga	p.R730R	SEMA3A_ENST00000436949.1_Silent_p.R730R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	730	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGTTGTTTTCGGTCCCTTTTC	0.468000													17	76					2.4624e-09	3.67141e-09	0.049695	1	0
CSHL1	1444	broad.mit.edu	37	17	61987959	61987959	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:61987959C>A	ENST00000392824.4	-	2	397	c.336G>T	c.(334-336)gtG>gtT	p.V112V	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GACCAGCTCCCACTGTTACTC	0.498000													15	41					0.00244969	0.00269833	0.119110	1	0
OTUD4	54726	broad.mit.edu	37	4	146071687	146071687	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:146071687G>A	ENST00000454497.2	-	13	1179	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	OTUD4_ENST00000447906.2_Missense_Mutation_p.R413W|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	412							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAAGGTGTCCGGCTAAGATTT	0.403000													12	48					0	0	0.105934	0	0
OR10R2	343406	broad.mit.edu	37	1	158450126	158450126	+	Silent	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:158450126C>G	ENST00000368152.1	+	1	459	c.459C>G	c.(457-459)ccC>ccG	p.P153P	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGCATTACCCCACTCTTATGA	0.473000													46	95					0	0	0.139131	0	0
AXL	558	broad.mit.edu	37	19	41745210	41745210	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:41745210T>C	ENST00000301178.4	+	9	1466	c.1276T>C	c.(1276-1278)Tgg>Cgg	p.W426R	AXL_ENST00000593513.1_Missense_Mutation_p.W158R|AXL_ENST00000359092.3_Missense_Mutation_p.W426R	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	426	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCTGGAGGCCTGGCGCCCAGG	0.597000													29	49					0	0	0.050027	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264574	123264574	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:123264574G>T	ENST00000264501.4	+	73	12735	c.12362G>T	c.(12361-12363)gGa>gTa	p.G4121V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G4121V			Q2LD37	K1109_HUMAN	KIAA1109	4121	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTTCATCGGGATTAGGCAGC	0.438000													13	38					7.93312e-07	1.03789e-06	0.119110	1	0
GLDC	2731	broad.mit.edu	37	9	6605162	6605162	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:6605162G>T	ENST00000321612.6	-	6	980	c.830C>A	c.(829-831)aCg>aAg	p.T277K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	277					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACGAGTTCCGTAAAGTCTTC	0.507000													22	99					6.21321e-17	1.12999e-16	0.076483	1	0
NOS2	4843	broad.mit.edu	37	17	26099385	26099385	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:26099385C>A	ENST00000313735.6	-	14	1886	c.1653G>T	c.(1651-1653)gaG>gaT	p.E551D		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	551	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGGCCAGCGCCTCTGATTTTC	0.562000													5	16					2.7689e-08	3.9335e-08	0.029380	1	0
ZNF283	284349	broad.mit.edu	37	19	44352078	44352078	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:44352078G>T	ENST00000324461.7	+	7	1622	c.1325G>T	c.(1324-1326)cGt>cTt	p.R442L	ZNF283_ENST00000588797.1_Missense_Mutation_p.R303L	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCCTTTAGTCGTGGCTATCAC	0.398000													25	69					4.72057e-08	6.56517e-08	0.091800	1	0
LECT1	11061	broad.mit.edu	37	13	53282678	53282678	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:53282678G>T	ENST00000448904.2	-	6	892	c.782C>A	c.(781-783)cCt>cAt	p.P261H	LECT1_ENST00000377962.3_Missense_Mutation_p.P261H	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	261					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CACATGATAAGGATTATCAGG	0.493000													7	35					0.00307968	0.00338662	0.038147	1	0
EGR2	1959	broad.mit.edu	37	10	64573954	64573954	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:64573954G>A	ENST00000242480.3	-	2	769	c.444C>T	c.(442-444)ccC>ccT	p.P148P	EGR2_ENST00000411732.1_Silent_p.P98P|EGR2_ENST00000439032.1_Silent_p.P148P	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	148					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACACACCCAGGGGTCCTGTGG	0.617000													8	50					0	0	0.038147	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456064	84456064	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:84456064C>A	ENST00000416219.2	+	8	782	c.693C>A	c.(691-693)agC>agA	p.S231R	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.S231R			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	231					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAACAGACAGCCCCTTGACAG	0.587000													13	54					6.94344e-10	1.05184e-09	0.038395	1	0
ZNF761	388561	broad.mit.edu	37	19	53945337	53945337	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:53945337G>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCACTGCCCTGCAAAAGCTGG	0.532000													4	11					0.00909568	0.00971184	0.009096	1	0
MTIF2	4528	broad.mit.edu	37	2	55481789	55481789	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:55481789C>A	ENST00000394600.3	-	7	1240		c.e7+1		MTIF2_ENST00000263629.4_Splice_Site|MTIF2_ENST00000403721.1_Splice_Site	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTAAGTTTTACCTTCTTACAG	0.318000													10	54					9.31168e-06	1.16749e-05	0.105934	1	0
GLG1	2734	broad.mit.edu	37	16	74530507	74530507	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:74530507C>A	ENST00000422840.2	-	5	809	c.810G>T	c.(808-810)ttG>ttT	p.L270F	GLG1_ENST00000205061.5_Missense_Mutation_p.L270F|GLG1_ENST00000447066.2_Missense_Mutation_p.L259F	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	270						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						GGCCTTTCTCCAAGCATGATA	0.403000													15	104					1.15088e-07	1.57089e-07	0.146539	1	0
PTPRH	5794	broad.mit.edu	37	19	55715197	55715197	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:55715197T>C	ENST00000376350.3	-	5	861	c.839A>G	c.(838-840)gAg>gGg	p.E280G	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	280	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCCGTCTTTCTCCACCCACAC	0.483000													28	121					0	0	0.059317	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279821	85279821	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:85279821G>C	ENST00000450363.3	-	3	774	c.316C>G	c.(316-318)Cta>Gta	p.L106V	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.L106V|SLC6A15_ENST00000552192.1_5'UTR	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	106					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACCATAAGTAGTATTAAATAT	0.328000													11	44					0	0	0.080935	0	0
FER	2241	broad.mit.edu	37	5	108380495	108380495	+	Splice_Site	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:108380495A>T	ENST00000281092.4	+	15	2212	c.1829_splice	c.e15+1	p.K610_splice	FER_ENST00000438717.2_Splice_Site_p.K435_splice	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	610	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACAAGAAGCCAAGTGAGttat	0.239000													12	38					0	0	0.080935	0	0
ADD1	118	broad.mit.edu	37	4	2883767	2883767	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:2883767G>T	ENST00000355842.3	+	4	1201	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ADD1_ENST00000264758.7_Missense_Mutation_p.G113V|ADD1_ENST00000503455.2_Missense_Mutation_p.G113V|ADD1_ENST00000513328.2_Missense_Mutation_p.G113V|ADD1_ENST00000446856.1_Missense_Mutation_p.G113V|ADD1_ENST00000398123.2_Missense_Mutation_p.G113V|ADD1_ENST00000398125.1_Missense_Mutation_p.G113V|ADD1_ENST00000398129.1_Missense_Mutation_p.G113V			P35611	ADDA_HUMAN	adducin 1 (alpha)	113					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGCAAGGAGGGATGGCTGCC	0.418000													45	154					9.52127e-25	1.86482e-24	0.139131	1	0
AXDND1	126859	broad.mit.edu	37	1	179504097	179504097	+	Splice_Site	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:179504097G>C	ENST00000367618.3	+	25	3418	c.3031_splice	c.e25+1	p.G1011_splice		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1011										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCCAAAGAAAGGTAAGGATTG	0.323000													30	57					0	0	0.045705	0	0
AHNAK	79026	broad.mit.edu	37	11	62287506	62287506	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:62287506C>T	ENST00000378024.4	-	5	14657	c.14383G>A	c.(14383-14385)Gga>Aga	p.G4795R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4795					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)				GGACCTTCTCCTTTGAAGCCA	0.527000													36	170					0	0	0.069456	0	0
WDR19	57728	broad.mit.edu	37	4	39279780	39279780	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:39279780G>T	ENST00000399820.3	+	35	4024	c.3870G>T	c.(3868-3870)acG>acT	p.T1290T	WDR19_ENST00000288634.7_Silent_p.T1130T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1290					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATGACTGGACGGTGTGTCCAC	0.403000													3	16					0.00024832	0.0002884	0.009096	1	0
CXXC1	30827	broad.mit.edu	37	18	47810824	47810824	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:47810824C>T	ENST00000285106.6	-	9	1843	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	CXXC1_ENST00000412036.2_Missense_Mutation_p.G381R|CXXC1_ENST00000589940.1_Missense_Mutation_p.G377R	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	377					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGCCGGGCCCCAGGCACTGG	0.592000													17	74					0	0	0.038395	0	0
COL4A6	1288	broad.mit.edu	37	X	107404923	107404923	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:107404923C>A	ENST00000334504.7	-	42	4492	c.4259G>T	c.(4258-4260)aGt>aTt	p.S1420I	COL4A6_ENST00000545689.1_Missense_Mutation_p.S1396I|COL4A6_ENST00000372216.4_Missense_Mutation_p.S1421I|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1363I|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1421I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1421	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGGAGCCCACTGGGGCCATC	0.592000									Alport syndrome with Diffuse Leiomyomatosis				9	5					4.68919e-08	6.53525e-08	0.069234	1	0
NUP133	55746	broad.mit.edu	37	1	229636557	229636557	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:229636557G>A	ENST00000261396.3	-	4	550	c.459C>T	c.(457-459)gcC>gcT	p.A153A	NUP133_ENST00000366679.1_Silent_p.A153A|NUP133_ENST00000537506.1_Silent_p.A137A|NUP133_ENST00000366678.3_Silent_p.A153A	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	153					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCACTAAGTCGGCACTCCAGT	0.393000													8	16					0	0	0.058154	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													3	46					0	0	0.115264	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693248	69693248	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:69693248C>G	ENST00000265403.7	+	5	1316	c.1289C>G	c.(1288-1290)aCa>aGa	p.T430R	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T346R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	430					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCACTGAAGACAGTAATTAAT	0.388000													20	88					0	0	0.062417	0	0
GRIA1	2890	broad.mit.edu	37	5	153144084	153144084	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:153144084G>T	ENST00000285900.5	+	12	2257	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	GRIA1_ENST00000340592.5_Silent_p.L638L|GRIA1_ENST00000518142.1_Silent_p.L558L|GRIA1_ENST00000521843.2_Silent_p.L569L|GRIA1_ENST00000518783.1_Silent_p.L648L|GRIA1_ENST00000448073.4_Silent_p.L648L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	638					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGCCTTCCTGACCGTGGAGA	0.547000													21	40					1.17739e-12	1.94373e-12	0.108266	1	0
MPDZ	8777	broad.mit.edu	37	9	13168463	13168463	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:13168463G>T	ENST00000319217.7	-	22	3403	c.3156C>A	c.(3154-3156)gaC>gaA	p.D1052E	MPDZ_ENST00000546205.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1052E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1052E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1052E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1052	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAAGATGCAGTCCCCAATGG	0.458000													6	307					0.00116845	0.00130661	0.021553	1	0
CMYA5	202333	broad.mit.edu	37	5	79026536	79026536	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:79026536G>C	ENST00000446378.2	+	2	1979	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	650						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)		CCCTACATCTGAGAGCTCTCT	0.463000													4	100					0	0	0.009096	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739741	34739741	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:34739741G>T	ENST00000562591.1	-	0	181					NR_034019.1																						AGTTTCTTATGACAGTTTCAG	0.398000													8	18					0.000157383	0.000185387	0.038147	1	0
PRR16	51334	broad.mit.edu	37	5	120022087	120022087	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:120022087G>C	ENST00000379551.2	+	3	886	c.529G>C	c.(529-531)Ggg>Cgg	p.G177R	PRR16_ENST00000407149.2_Missense_Mutation_p.G200R|PRR16_ENST00000446965.1_Missense_Mutation_p.G130R|PRR16_ENST00000505123.1_Missense_Mutation_p.G130R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	200	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCCCAGGCAGGGCCTCGAGA	0.463000													28	50					0	0	0.144211	0	0
MUC3A	4584	broad.mit.edu	37	7	100551374	100551374	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:100551374T>A	ENST00000319509.7	+	1	125	c.125T>A	c.(124-126)cTa>cAa	p.L42Q						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCACAAGCCTACGAACTCTC	0.502000													5	36					0	0	0.021553	0	0
REG1A	5967	broad.mit.edu	37	2	79349191	79349191	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:79349191G>A	ENST00000233735.1	+	4	364	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	87	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGGCCTCACTGATTAAGGAGA	0.502000													26	80					0	0	0.134883	0	0
MAPT	4137	broad.mit.edu	37	17	44067401	44067401	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:44067401C>T	ENST00000344290.5	+	8	1662	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S447F|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S447F|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S447F	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	447			S -> P (in dbSNP:rs10445337).		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)				TCTGTCACTTCCCGAACTGGC	0.532000													15	68					0	0	0.132662	0	0
HCAR2	338442	broad.mit.edu	37	12	123187751	123187751	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:123187751A>G	ENST00000328880.5	-	1	139	c.80T>C	c.(79-81)gTc>gCc	p.V27A	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	27					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CAACACCTTGACAATGAAGTC	0.512000													3	45					0	0	0.009096	0	0
INO80C	125476	broad.mit.edu	37	18	33060527	33060527	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:33060527C>A	ENST00000586489.1	-	0	144				INO80C_ENST00000592173.1_Splice_Site_p.G53_splice|INO80C_ENST00000334598.7_Splice_Site_p.G53_splice|INO80C_ENST00000441607.2_Splice_Site_p.G89_splice|INO80C_ENST00000590757.1_Intron|RP11-322E11.6_ENST00000589258.1_Intron			Q6PI98	IN80C_HUMAN	INO80 complex subunit C						DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ATGCTGATACCCTTAAAACAT	0.448000													13	76					0.000151284	0.000179481	0.105934	1	0
XRN2	22803	broad.mit.edu	37	20	21367514	21367514	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:21367514G>T	ENST00000377191.3	+	29	2752	c.2657G>T	c.(2656-2658)gGg>gTg	p.G886V	XRN2_ENST00000539513.1_Missense_Mutation_p.G832V|XRN2_ENST00000430571.2_Missense_Mutation_p.G810V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	886					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAGGCGTTGGGGCTGAACCT	0.498000													18	89					2.37509e-13	3.95053e-13	0.055883	1	0
KRT6A	3853	broad.mit.edu	37	12	52884506	52884506	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:52884506C>A	ENST00000330722.6	-	5	992	c.924G>T	c.(922-924)caG>caT	p.Q308H		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	308	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTCTGCATCTGGGACAGCT	0.507000													62	94					5.80444e-35	1.14361e-34	0.139131	1	0
CLEC9A	283420	broad.mit.edu	37	12	10218182	10218182	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:10218182C>A	ENST00000355819.1	+	9	1290	c.677C>A	c.(676-678)aCg>aAg	p.T226K		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423000													29	64					1.08312e-15	1.92749e-15	0.144211	1	0
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:43770805G>T	ENST00000372476.3	+	2	421	c.342G>T	c.(340-342)acG>acT	p.T114T	TIE1_ENST00000441333.2_Silent_p.T114T|TIE1_ENST00000538015.1_Silent_p.T114T	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	114					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)				CGCGGCGCACGCGCGTCATCT	0.701000													3	14					0.004672	0.00509533	0.115264	1	0
RXRA	6256	broad.mit.edu	37	9	137328357	137328357	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:137328357G>T	ENST00000540193.1	+	9	1918	c.995G>T	c.(994-996)gGg>gTg	p.G332V	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G429V			P19793	RXRA_HUMAN	retinoid X receptor, alpha	429	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CGCTCCATCGGGCTCAAATGC	0.597000													5	29					2.0095e-06	2.58308e-06	0.029380	1	0
NR1H2	7376	broad.mit.edu	37	19	50881606	50881606	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:50881606G>T	ENST00000253727.5	+	5	617	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000598168.1_Missense_Mutation_p.G128C|NR1H2_ENST00000593926.1_Missense_Mutation_p.G128C|NR1H2_ENST00000599105.1_Missense_Mutation_p.G128C	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	128					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGCCGGGGTGGCGGAACCTG	0.657000													6	34					0.0215528	0.0227559	0.021553	1	0
RYR2	6262	broad.mit.edu	37	1	237947190	237947190	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:237947190C>A	ENST00000366574.2	+	90	12495	c.12178C>A	c.(12178-12180)Cag>Aag	p.Q4060K	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4060					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)			GCACTACACGCAGTCAGAAAC	0.483000													12	46					4.3838e-07	5.81578e-07	0.105934	1	0
AASDH	132949	broad.mit.edu	37	4	57220230	57220230	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:57220230C>A	ENST00000205214.6	-	8	1538	c.1358G>T	c.(1357-1359)cGt>cTt	p.R453L	AASDH_ENST00000602986.1_Missense_Mutation_p.R300L|AASDH_ENST00000513376.1_Missense_Mutation_p.R353L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.R453L|AASDH_ENST00000502617.1_Missense_Mutation_p.R453L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	453					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AATGTTAAGACGTTTGCCATG	0.373000													7	36					1.12685e-05	1.40485e-05	0.047766	1	0
STAT6	6778	broad.mit.edu	37	12	57498342	57498342	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:57498342G>C	ENST00000300134.3	-	11	1442	c.1117C>G	c.(1117-1119)Cgg>Ggg	p.R373G	STAT6_ENST00000454075.3_Missense_Mutation_p.R373G|STAT6_ENST00000538913.2_Missense_Mutation_p.R263G|STAT6_ENST00000556155.1_Missense_Mutation_p.R373G|STAT6_ENST00000543873.2_Missense_Mutation_p.R373G|STAT6_ENST00000537215.2_Missense_Mutation_p.R263G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	373					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTGCCCTTCCGCTCACACCGC	0.592000													7	29					0	0	0.038147	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172210	21172210	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:21172210T>A	ENST00000421593.2	+	2	114	c.114T>A	c.(112-114)agT>agA	p.S38R	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TATTTGTAAGTTACTTTGGAT	0.333000													8	40					0	0	0.038147	0	0
CRYGC	1420	broad.mit.edu	37	2	208992953	208992953	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:208992953A>T	ENST00000282141.3	-	3	536	c.499T>A	c.(499-501)Ttg>Atg	p.L167M		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	167	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ACTCTCCGCAAAGAGCCTGCC	0.507000													21	107					0	0	0.069288	0	0
VAT1L	57687	broad.mit.edu	37	16	77850897	77850897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:77850897G>T	ENST00000302536.2	+	2	466	c.313G>T	c.(313-315)Gag>Tag	p.E105*		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	105							oxidoreductase activity|zinc ion binding	p.E105Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCAGGATTTGAGTGTTCTGG	0.428000													27	119					4.74835e-14	8.06003e-14	0.045705	1	0
BOC	91653	broad.mit.edu	37	3	112992161	112992161	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:112992161G>C	ENST00000495514.1	+	8	1911	c.1207G>C	c.(1207-1209)Gta>Cta	p.V403L	BOC_ENST00000273395.4_Missense_Mutation_p.V403L|BOC_ENST00000355385.3_Missense_Mutation_p.V403L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	403	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGCCCATGCCGTAGTCCAGCT	0.592000													5	12					0	0	0.014758	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359591	72359591	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:72359591C>A	ENST00000001146.2	-	6	1507	c.1304G>T	c.(1303-1305)gGt>gTt	p.G435V	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G360V|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G244V	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	435					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GACACCGCCACCGAACGGGAG	0.642000													6	17					5.68852e-11	8.90261e-11	0.047766	1	0
CXorf67	340602	broad.mit.edu	37	X	51150995	51150995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:51150995C>A	ENST00000342995.2	+	1	1229	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGGACTGGCTCAGAAAGGCTT	0.602000													7	6					5.4927e-09	8.09837e-09	0.047766	1	0
OR4C11	219429	broad.mit.edu	37	11	55371098	55371098	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55371098G>T	ENST00000302231.4	-	1	776	c.752C>A	c.(751-753)cCa>cAa	p.P251Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GAATATACATGGGCCAAAGAA	0.443000													10	17					0.000673444	0.00076339	0.069234	1	0
TMX2	51075	broad.mit.edu	37	11	57505860	57505860	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:57505860G>C	ENST00000278422.4	+	4	411	c.399G>C	c.(397-399)atG>atC	p.M133I	TMX2_ENST00000378312.4_Missense_Mutation_p.M95I|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	133	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CCCTATATATGGGCCCTGAGT	0.408000													26	111					0	0	0.125774	0	0
PTPRT	11122	broad.mit.edu	37	20	40877394	40877394	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:40877394C>A	ENST00000373198.3	-	15	2537	c.2302G>T	c.(2302-2304)Ggc>Tgc	p.G768C	PTPRT_ENST00000373201.1_Missense_Mutation_p.G749C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G768C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G749C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	749					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGATCACGCCAGCCATCTTC	0.537000													20	75					1.10923e-09	1.6651e-09	0.076483	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555855	155555855	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:155555855C>T	ENST00000295101.2	+	1	1045	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	KCNJ3_ENST00000544049.1_Missense_Mutation_p.R190C	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	190					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCCAAGAAGCGCGCCGAGAC	0.587000													5	37					0	0	0.021553	0	0
FGD5	152273	broad.mit.edu	37	3	14905647	14905647	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:14905647G>A	ENST00000285046.5	+	2	2648	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	FGD5_ENST00000543601.1_Silent_p.E605E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	846					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTACACAGAGCCCTACAAAG	0.537000													44	121					0	0	0.139131	0	0
SCN7A	6332	broad.mit.edu	37	2	167262666	167262666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:167262666G>T	ENST00000409855.1	-	25	4599	c.4473C>A	c.(4471-4473)taC>taA	p.Y1491*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1491					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACAACAATGTACATATTTA	0.348000													7	33					0.0293803	0.030775	0.029380	1	0
TIE1	7075	broad.mit.edu	37	1	43779623	43779623	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:43779623C>G	ENST00000372476.3	+	14	2472	c.2393C>G	c.(2392-2394)aCc>aGc	p.T798S	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.T443S	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	798					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)				CGCACCTTCACCTACCAGTCA	0.597000													6	28					0	0	0.038147	0	0
OXA1L	5018	broad.mit.edu	37	14	23239424	23239424	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:23239424G>T	ENST00000358043.5	+	5	876	c.558G>T	c.(556-558)atG>atT	p.M186I	OXA1L_ENST00000412791.1_Missense_Mutation_p.M202I|OXA1L_ENST00000285848.5_Missense_Mutation_p.M262I|OXA1L_ENST00000604262.1_Missense_Mutation_p.M202I			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	202					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCTCGGAGATGGCACTTTACC	0.423000													17	63					1.2644e-06	1.64447e-06	0.055883	1	0
MAST4	375449	broad.mit.edu	37	5	66429410	66429410	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:66429410G>T	ENST00000404260.3	+	17	2479	c.2171G>T	c.(2170-2172)aGc>aTc	p.S724I	MAST4_ENST00000261569.7_Missense_Mutation_p.S527I|MAST4_ENST00000405643.1_Missense_Mutation_p.S542I|MAST4_ENST00000403666.1_Missense_Mutation_p.S532I|MAST4_ENST00000403625.2_Missense_Mutation_p.S721I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	724	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACTAATGAGCATGACTACC	0.418000													28	71					5.45727e-16	9.81715e-16	0.134883	1	0
LRFN5	145581	broad.mit.edu	37	14	42356412	42356412	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:42356412A>T	ENST00000554171.1	+	5	3016	c.584A>T	c.(583-585)cAc>cTc	p.H195L	LRFN5_ENST00000554120.1_Missense_Mutation_p.H195L|LRFN5_ENST00000298119.4_Missense_Mutation_p.H195L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCCATTTGCACAAGATGACT	0.433000										HNSCC(30;0.082)			4	25					0	0	0.009096	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907980	12907980	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:12907980C>T	ENST00000317869.6	-	2	388	c.163G>A	c.(163-165)Gtt>Att	p.V55I		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.V55I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCATATTGAACGAAGGCAAAG	0.473000													5	83					0	0	0.014758	0	0
ENKUR	219670	broad.mit.edu	37	10	25279523	25279523	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:25279523G>T	ENST00000331161.4	-	4	682	c.463C>A	c.(463-465)Cct>Act	p.P155T	ENKUR_ENST00000376363.1_Missense_Mutation_p.P155T	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	155						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGTATTCAGGTGTGACACCA	0.338000													8	48					5.18039e-06	6.59504e-06	0.038147	1	0
MTERFD1	51001	broad.mit.edu	37	8	97270803	97270803	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:97270803T>C	ENST00000523821.1	-	2	235	c.116A>G	c.(115-117)cAt>cGt	p.H39R	MTERFD1_ENST00000287025.3_Missense_Mutation_p.H39R			Q96E29	MTER1_HUMAN	MTERF domain containing 1	39					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGAAAAGCCATGTAACAGTGT	0.428000													30	90					0	0	0.134883	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471984	47471984	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:47471984G>T	ENST00000266581.4	-	2	1268	c.802C>A	c.(802-804)Cac>Aac	p.H268N	AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	268	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.H268N(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGACGCGAGTGCCTGGAGTCA	0.478000													6	53					0.0215528	0.0227559	0.021553	1	0
FLNC	2318	broad.mit.edu	37	7	128490515	128490515	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:128490515G>T	ENST00000325888.8	+	32	5637	c.5376G>T	c.(5374-5376)gcG>gcT	p.A1792A	FLNC_ENST00000346177.6_Silent_p.A1759A|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1792					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCCCTTCGCGGTGCAGAAAG	0.607000													6	45					5.9392e-07	7.8166e-07	0.021553	1	0
ANKRD50	57182	broad.mit.edu	37	4	125592488	125592488	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:125592488C>A	ENST00000504087.1	-	4	2981	c.1944G>T	c.(1942-1944)ttG>ttT	p.L648F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L469F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	648										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGCTGCTCTCAAAGCTGTTC	0.463000													21	51					2.89027e-11	4.58839e-11	0.069288	1	0
FAT3	120114	broad.mit.edu	37	11	92577580	92577580	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:92577580G>A	ENST00000298047.6	+	18	11064	c.11047G>A	c.(11047-11049)Gac>Aac	p.D3683N	FAT3_ENST00000533797.1_Missense_Mutation_p.D18N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3533N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3683N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3683					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGAAGCAGGACAGCCTGCG	0.597000										TCGA Ovarian(4;0.039)			5	22					0	0	0.029380	0	0
RYR3	6263	broad.mit.edu	37	15	33961598	33961598	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:33961598G>T	ENST00000389232.4	+	37	5733	c.5663G>T	c.(5662-5664)tGc>tTc	p.C1888F	RYR3_ENST00000415757.3_Missense_Mutation_p.C1888F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1888	4 X approximate repeats.				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)		AACTGCCCCTGCCCAGAGGAG	0.473000													10	68					0.00621372	0.00673237	0.058154	1	0
PKLR	5313	broad.mit.edu	37	1	155262972	155262972	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:155262972C>A	ENST00000392414.3	-	9	1452	c.1339G>T	c.(1339-1341)Ggc>Tgc	p.G447C	PKLR_ENST00000342741.4_Missense_Mutation_p.G478C	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCTCACCGGCCAGTTGTGGTC	0.607000													4	131					0.00116845	0.00130661	0.021553	1	0
EFCAB12	90288	broad.mit.edu	37	3	129130133	129130133	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:129130133T>C	ENST00000505956.1	-	5	1065	c.903A>G	c.(901-903)tcA>tcG	p.S301S	EFCAB12_ENST00000326085.3_Silent_p.S301S	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GCTGTGGGGCTGAATCCACCT	0.572000													3	114					0	0	0.115264	0	0
EPX	8288	broad.mit.edu	37	17	56272478	56272478	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:56272478G>A	ENST00000225371.5	+	6	858	c.748G>A	c.(748-750)Ggc>Agc	p.G250S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	250					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTTCACTGCAGGCGTTGACTG	0.632000													22	76					0	0	0.076483	0	0
PCLO	27445	broad.mit.edu	37	7	82508748	82508748	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:82508748C>A	ENST00000423517.2	-	10	13896	c.13559G>T	c.(13558-13560)gGt>gTt	p.G4520V	PCLO_ENST00000333891.8_Missense_Mutation_p.G4520V|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTCTTTACCACCCACAAT	0.393000													6	21					0.00198382	0.00218881	0.029380	1	0
PRDM11	56981	broad.mit.edu	37	11	45246307	45246307	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:45246307T>A	ENST00000263765.4	+	8	1633	c.1384T>A	c.(1384-1386)Tta>Ata	p.L462I	PRDM11_ENST00000424263.2_Missense_Mutation_p.L428I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.L462I|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	462										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGCAGAATTAGACATGCT	0.532000													41	201					0	0	0.111260	0	0
TRIM58	25893	broad.mit.edu	37	1	248039404	248039404	+	Nonsense_Mutation	SNP	G	G	A	rs142321693	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:248039404G>A	ENST00000366481.3	+	6	1122	c.1074G>A	c.(1072-1074)tgG>tgA	p.W358*	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	358	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGCAGAGTGGGGTTTAGGGG	0.562000													73	164					0	0	0.139131	0	0
CDH2	1000	broad.mit.edu	37	18	25572712	25572712	+	Missense_Mutation	SNP	G	G	C	rs138990743		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:25572712G>C	ENST00000269141.3	-	9	1674	c.1251C>G	c.(1249-1251)aaC>aaG	p.N417K	CDH2_ENST00000399380.3_Missense_Mutation_p.N386K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	417	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTACACTGCGTTCCAGGCTG	0.502000													7	39					0	0	0.069234	0	0
FAM114A1	92689	broad.mit.edu	37	4	38879976	38879976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:38879976G>T	ENST00000358869.2	+	3	453	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	93						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TACACTTGCTGAATGTATTGA	0.547000													14	39					2.35188e-11	3.77899e-11	0.038395	1	0
TTC29	83894	broad.mit.edu	37	4	147755028	147755028	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:147755028T>A	ENST00000513335.1	-	10	1184	c.985A>T	c.(985-987)Atc>Ttc	p.I329F	TTC29_ENST00000398886.4_Missense_Mutation_p.I329F|TTC29_ENST00000325106.4_Missense_Mutation_p.I303F			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	303							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTGTGGAGATTTTACAGTAA	0.413000													12	28					0	0	0.093190	0	0
SEPSECS	51091	broad.mit.edu	37	4	25128906	25128906	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:25128906G>A	ENST00000382103.2	-	9	1172	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	SEPSECS_ENST00000302922.3_Missense_Mutation_p.P288L|SEPSECS_ENST00000515272.1_5'UTR	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	367					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	GGGATTGTGAGGTGTATGCAA	0.333000													11	50					0	0	0.105934	0	0
UBBP4	23666	broad.mit.edu	37	17	21731248	21731248	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:21731248G>T	ENST00000584755.1	+	2	947	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGATCCAAGATAAAGAAGG	0.527000													9	71					6.40141e-05	7.70497e-05	0.080935	1	0
TENM4	26011	broad.mit.edu	37	11	78380201	78380201	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:78380201G>C	ENST00000278550.7	-	32	7651	c.7189C>G	c.(7189-7191)Cag>Gag	p.Q2397E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATGATGATCTGAAAGTTGGGG	0.517000													6	36					0	0	0.021553	0	0
ANK1	286	broad.mit.edu	37	8	41525923	41525923	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:41525923C>A	ENST00000396942.1	-	39	5339	c.5256G>T	c.(5254-5256)aaG>aaT	p.K1752N	ANK1_ENST00000379758.2_Missense_Mutation_p.K1752N|ANK1_ENST00000347528.4_Missense_Mutation_p.K1752N|ANK1_ENST00000289734.7_Missense_Mutation_p.K1752N|ANK1_ENST00000352337.4_Missense_Mutation_p.K1752N|ANK1_ENST00000265709.8_Missense_Mutation_p.K1793N|ANK1_ENST00000396945.1_Missense_Mutation_p.K1752N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1752	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACACCAGGACCTTCTCGTACT	0.592000													25	82					3.6726e-16	6.62469e-16	0.091800	1	0
SAMD9	54809	broad.mit.edu	37	7	92735075	92735075	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:92735075T>C	ENST00000379958.2	-	3	605	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	112						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTTTTGTTTTTGCTTTGAAG	0.383000													13	49					0	0	0.119110	0	0
MS4A1	931	broad.mit.edu	37	11	60233577	60233577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:60233577G>T	ENST00000534668.1	+	5	809	c.520G>T	c.(520-522)Gag>Tag	p.E174*	MS4A1_ENST00000389939.2_Nonsense_Mutation_p.E174*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.E174*|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.E174*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	174	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TAATCCCTCTGAGAAAAACTC	0.363000													28	91					1.74807e-11	2.82249e-11	0.045705	1	0
VRTN	55237	broad.mit.edu	37	14	74824464	74824464	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:74824464G>T	ENST00000256362.4	+	2	1219	c.978G>T	c.(976-978)cgG>cgT	p.R326R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.R326R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTTCCACCGGGGGGGCGTCG	0.642000													14	30					5.3912e-06	6.85024e-06	0.038395	1	0
BEND4	389206	broad.mit.edu	37	4	42122223	42122223	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:42122223C>T	ENST00000502486.1	-	5	1814	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	BEND4_ENST00000504360.1_Missense_Mutation_p.R408K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	412	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAGGAGCCGTCTCCCATCTTT	0.463000													10	41					0	0	0.069234	0	0
COL22A1	169044	broad.mit.edu	37	8	139712386	139712386	+	Splice_Site	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:139712386G>A	ENST00000303045.6	-	32	3007	c.2559_splice	c.e32-1	p.T854_splice	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.T854_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	854	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACAGGGATGTCTGAAAAGG	0.507000										HNSCC(7;0.00092)			15	21					0	0	0.049695	0	0
MMADHC	27249	broad.mit.edu	37	2	150426500	150426500	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:150426500T>A	ENST00000428879.1	-	7	1383	c.879A>T	c.(877-879)ttA>ttT	p.L293F	MMADHC_ENST00000303319.5_Missense_Mutation_p.L293F|MMADHC_ENST00000422782.2_Missense_Mutation_p.L327F			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	293						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						AATTTCCACTTAATTTCTTCA	0.338000													8	30					0	0	0.080935	0	0
TYMS	7298	broad.mit.edu	37	18	669136	669136	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:669136C>T	ENST00000323274.10	+	4	658	c.519C>T	c.(517-519)gaC>gaT	p.D173D	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Silent_p.D90D	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	173					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CCAACCCTGACGACAGAAGAA	0.428000													14	155					0	0	0.132662	0	0
DMD	1756	broad.mit.edu	37	X	32591900	32591900	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:32591900C>T	ENST00000357033.4	-	14	1872	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	DMD_ENST00000378677.2_Missense_Mutation_p.D552N|DMD_ENST00000288447.4_Missense_Mutation_p.D548N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	556					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAAGGATGTCTTGTAAAAGA	0.433000													6	5					0	0	0.038147	0	0
GABRA2	2555	broad.mit.edu	37	4	46252500	46252500	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:46252500G>A	ENST00000510861.1	-	10	1354	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	GABRA2_ENST00000381620.4_Missense_Mutation_p.P394L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P454L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P399L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P394L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P394L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	394					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTGGGTTCTGGCGTGGTTGC	0.428000													23	93					0	0	0.069288	0	0
KCND3	3752	broad.mit.edu	37	1	112524723	112524723	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:112524723G>T	ENST00000369697.1	-	1	695	c.626C>A	c.(625-627)aCg>aAg	p.T209K	KCND3_ENST00000315987.2_Missense_Mutation_p.T209K|KCND3_ENST00000302127.4_Missense_Mutation_p.T209K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	209						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCCCGGGACCGTGCCGCACGG	0.642000													6	23					8.12818e-05	9.66043e-05	0.029380	1	0
LECT1	11061	broad.mit.edu	37	13	53277868	53277868	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:53277868G>T	ENST00000448904.2	-	7	974	c.864C>A	c.(862-864)agC>agA	p.S288R	LECT1_ENST00000377962.3_Missense_Mutation_p.S289R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	289					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGTGGGTGTAGCTCCGCCTAC	0.478000													8	33					1.06961e-07	1.46905e-07	0.038147	1	0
SNHG14	104472715	broad.mit.edu	37	15	25417782	25417782	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:25417782G>T	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA																							TCCCCGGGTTGGGTCGATGAT	0.522000													7	17					1.12685e-05	1.40485e-05	0.047766	1	0
SEMA4F	10505	broad.mit.edu	37	2	74900622	74900622	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:74900622G>T	ENST00000357877.2	+	6	738	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	197	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAACTACCTGGGGACGGAGCC	0.602000													8	33					2.80697e-09	4.17577e-09	0.080935	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328537	88328537	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:88328537G>A	ENST00000325089.6	+	2	1113	c.894G>A	c.(892-894)acG>acA	p.T298T	SLITRK5_ENST00000400028.3_Silent_p.T57T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	298						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCCGCAGACGCCTTTGAGCA	0.542000													15	63					0	0	0.049695	0	0
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:65016088G>C	ENST00000394156.3	-	8	1569	c.1116C>G	c.(1114-1116)atC>atG	p.I372M	CDH11_ENST00000566827.1_Missense_Mutation_p.I246M|CDH11_ENST00000268603.4_Missense_Mutation_p.I372M			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	372	Cadherin 3.				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)		CTTCTACTGAGATCTTGACGG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			50	131					0	0	0.139131	0	0
TLL1	7092	broad.mit.edu	37	4	167012460	167012460	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:167012460C>A	ENST00000061240.2	+	19	3270	c.2623C>A	c.(2623-2625)Caa>Aaa	p.Q875K	TLL1_ENST00000507499.1_Missense_Mutation_p.Q898K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	875	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGCATCTGTTCAAAGAAAAGG	0.413000													7	15					0.000157383	0.000185387	0.038147	1	0
SUSD4	55061	broad.mit.edu	37	1	223396608	223396608	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:223396608C>T	ENST00000343846.3	-	7	2060	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Missense_Mutation_p.G316D|SUSD4_ENST00000366878.4_Missense_Mutation_p.G476D			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	476						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AATGTCGATGCCTGGGCTGGT	0.597000													11	54					0	0	0.080935	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255525	125255525	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:125255525C>T	ENST00000298282.9	+	6	577	c.306C>T	c.(304-306)tcC>tcT	p.S102S	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.S38S	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	102						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)		GCATCACCTCCGCCAGCTTTG	0.537000													14	90					0	0	0.105934	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:38451444C>A	ENST00000322350.5	+	19	2917	c.2571C>A	c.(2569-2571)ttC>ttA	p.F857L	EGFLAM_ENST00000336740.6_Missense_Mutation_p.F623L|EGFLAM_ENST00000506135.1_De_novo_Start_InFrame|EGFLAM_ENST00000354891.3_Missense_Mutation_p.F865L|EGFLAM_ENST00000397210.3_De_novo_Start_InFrame|EGFLAM_ENST00000514476.1_De_novo_Start_InFrame|EGFLAM_ENST00000397202.2_Missense_Mutation_p.F223L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAAATGTGTTCATGAGGTTTA	0.468000													75	59					2.61964e-41	5.19222e-41	0.139131	1	0
ZFP37	7539	broad.mit.edu	37	9	115806359	115806359	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:115806359C>A	ENST00000374227.3	-	4	566	c.539G>T	c.(538-540)tGt>tTt	p.C180F	ZFP37_ENST00000553380.1_Missense_Mutation_p.C195F|ZFP37_ENST00000555206.1_Missense_Mutation_p.C181F			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTTTCCACATGACTCAAA	0.333000													15	67					1.3612e-06	1.7669e-06	0.132662	1	0
SNRNP40	9410	broad.mit.edu	37	1	31762255	31762255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:31762255G>C	ENST00000263694.4	-	4	395	c.377C>G	c.(376-378)tCa>tGa	p.S126*	SNRNP40_ENST00000446633.2_Nonsense_Mutation_p.S126*	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	126						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TGTGGATGCTGAGAAAAGCAT	0.363000													14	60					0	0	0.146539	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264575	123264575	+	Silent	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:123264575A>T	ENST00000264501.4	+	73	12736	c.12363A>T	c.(12361-12363)ggA>ggT	p.G4121G	KIAA1109_ENST00000388738.3_Silent_p.G4121G			Q2LD37	K1109_HUMAN	KIAA1109	4121	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTCATCGGGATTAGGCAGCC	0.438000													12	40					0	0	0.105934	0	0
RC3H1	149041	broad.mit.edu	37	1	173933262	173933262	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:173933262C>A	ENST00000367696.2	-	11	2031	c.1680G>T	c.(1678-1680)agG>agT	p.R560S	RC3H1_ENST00000258349.4_Missense_Mutation_p.R560S|RC3H1_ENST00000367694.2_Missense_Mutation_p.R560S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	560	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTGCTGGCCCCCTTGGAGGTA	0.413000													9	49					0.00621372	0.00673237	0.058154	1	0
CD86	942	broad.mit.edu	37	3	121838342	121838342	+	Silent	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:121838342G>C	ENST00000330540.2	+	7	1067	c.951G>C	c.(949-951)tcG>tcC	p.S317S	CD86_ENST00000264468.5_Silent_p.S104S|CD86_ENST00000469710.1_Silent_p.S235S|CD86_ENST00000493101.1_Silent_p.S205S|CD86_ENST00000393627.2_Silent_p.S311S	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	317					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTAAAAGTTCGAAGACATCTT	0.333000													11	59					0	0	0.093190	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577935	101577935	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:101577935G>A	ENST00000536262.2	-	8	1587	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	343					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTAAGCACAGGCCACAAAAA	0.363000													13	50					0	0	0.055883	0	0
SHPRH	257218	broad.mit.edu	37	6	146264813	146264813	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:146264813C>A	ENST00000367503.3	-	9	2102	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	SHPRH_ENST00000367505.2_Missense_Mutation_p.K568N|SHPRH_ENST00000438092.2_Missense_Mutation_p.K568N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K568N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	568					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCTCCTGGACTTATAATAAT	0.368000													11	19					5.50884e-06	6.94638e-06	0.093190	1	0
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602000													3	40					0.115264	0.119226	0.115264	1	0
OR4N5	390437	broad.mit.edu	37	14	20612688	20612688	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:20612688T>A	ENST00000333629.1	+	1	794	c.794T>A	c.(793-795)tTc>tAc	p.F265Y		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCCAGGCTTTCCCAGCTGAC	0.428000													45	213					0	0	0.139131	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209204748	209204748	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:209204748G>T	ENST00000264380.4	+	31	4982	c.4824G>T	c.(4822-4824)ggG>ggT	p.G1608G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1608					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGTTTGATGGGCATTTGCTGG	0.353000													16	66					9.16793e-09	1.32805e-08	0.033300	1	0
WNT3A	89780	broad.mit.edu	37	1	228247951	228247951	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:228247951C>A	ENST00000366753.2	+	5	1151	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CACCTCATCCCCAACCCCCTG	0.637000													14	22					1.15088e-07	1.57089e-07	0.146539	1	0
CASC3	22794	broad.mit.edu	37	17	38319010	38319010	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:38319010A>C	ENST00000264645.7	+	6	867	c.641A>C	c.(640-642)gAt>gCt	p.D214A		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	214	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTATGGAAGGATGAGGGTCGC	0.493000													14	81					0	0	0.132662	0	0
MMP13	4322	broad.mit.edu	37	11	102819851	102819851	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:102819851C>A	ENST00000260302.3	-	7	982	c.954G>T	c.(952-954)gcG>gcT	p.A318A	MMP13_ENST00000340273.4_Silent_p.A318A	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	318	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAACAGCTCCGCATCAACCT	0.413000													12	60					5.50884e-06	6.94638e-06	0.093190	1	0
DST	667	broad.mit.edu	37	6	56417961	56417961	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:56417961G>T	ENST00000370754.5	-	61	15535	c.15536C>A	c.(15535-15537)tCt>tAt	p.S5179Y	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4675Y|DST_ENST00000421834.2_Missense_Mutation_p.S2913Y|DST_ENST00000361203.3_Missense_Mutation_p.S4999Y|DST_ENST00000370769.4_Missense_Mutation_p.S5001Y|DST_ENST00000244364.6_Missense_Mutation_p.S2587Y|DST_ENST00000370788.2_Missense_Mutation_p.S2913Y			Q03001	DYST_HUMAN	dystonin	4999					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCTGCAGAGACTTTAACTT	0.403000													38	97					5.71845e-15	9.98843e-15	0.080422	1	0
KRIT1	889	broad.mit.edu	37	7	91830661	91830661	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:91830661C>G	ENST00000394507.1	-	19	2885	c.2102G>C	c.(2101-2103)aGc>aCc	p.S701T	KRIT1_ENST00000412043.2_Missense_Mutation_p.S701T|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Missense_Mutation_p.S653T|KRIT1_ENST00000394505.2_Missense_Mutation_p.S701T|KRIT1_ENST00000340022.2_Missense_Mutation_p.S701T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	701	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTTCCATGCTATGGATCTG	0.303000													13	72					0	0	0.105934	0	0
CSMD3	114788	broad.mit.edu	37	8	113418831	113418831	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:113418831G>T	ENST00000297405.5	-	35	5975	c.5731C>A	c.(5731-5733)Cat>Aat	p.H1911N	CSMD3_ENST00000455883.2_Missense_Mutation_p.H1807N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1871N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1841N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1911	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGATCCATGGAGAATATAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	53					7.48243e-07	9.82811e-07	0.058154	1	0
MKS1	54903	broad.mit.edu	37	17	56291140	56291140	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:56291140G>A	ENST00000393119.2	-	7	809	c.735C>T	c.(733-735)ctC>ctT	p.L245L	MKS1_ENST00000537529.2_Silent_p.L235L|MKS1_ENST00000313863.6_Silent_p.L245L|MKS1_ENST00000546108.1_Silent_p.L42L|MKS1_ENST00000337050.7_Silent_p.L245L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	245					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGGTCCTTTGAGGCCCGTGA	0.473000													20	55					0	0	0.076483	0	0
PEG3	5178	broad.mit.edu	37	19	57328692	57328692	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:57328692C>A	ENST00000326441.9	-	10	1481	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G373V|PEG3_ENST00000598410.1_Missense_Mutation_p.G249V|PEG3_ENST00000593695.1_Missense_Mutation_p.G247V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	373					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTAAAGCCTCCCCTAAATGC	0.438000													16	40					3.45872e-05	4.20895e-05	0.146539	1	0
GRM8	2918	broad.mit.edu	37	7	126544734	126544734	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:126544734C>A	ENST00000339582.2	-	4	1539	c.731G>T	c.(730-732)gGt>gTt	p.G244V	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.G244V|GRM8_ENST00000358373.3_Missense_Mutation_p.G244V|GRM8_ENST00000444921.2_Missense_Mutation_p.G244V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	244					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATGCAAACACCACCTATTTA	0.373000										HNSCC(24;0.065)			8	34					0.000274275	0.000315226	0.047766	1	0
CLMP	79827	broad.mit.edu	37	11	122954456	122954456	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:122954456A>T	ENST00000448775.2	-	4	828	c.488T>A	c.(487-489)gTg>gAg	p.V163E		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	163	Ig-like C2-type 2.					integral to membrane|tight junction		p.V163A(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCAGTAATACACAATGGGCTC	0.498000													4	32					0	0	0.014758	0	0
PLCD4	84812	broad.mit.edu	37	2	219487513	219487513	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:219487513G>T	ENST00000450993.2	+	6	1023	c.684G>T	c.(682-684)ttG>ttT	p.L228F	PLCD4_ENST00000417849.1_Missense_Mutation_p.L228F|PLCD4_ENST00000432688.1_Missense_Mutation_p.L228F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	228	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGAATTTTTGGATTTCCTCC	0.463000													22	98					3.10358e-05	3.79072e-05	0.069288	1	0
CCDC80	151887	broad.mit.edu	37	3	112358551	112358551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:112358551C>A	ENST00000206423.3	-	2	1155	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E68*|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	68										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGTTTGGTTCCTCCAGAGTG	0.597000													33	46					1.36615e-20	2.60631e-20	0.054565	1	0
YY2	404281	broad.mit.edu	37	X	21874864	21874864	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:21874864G>T	ENST00000429584.2	+	1	760	c.262G>T	c.(262-264)Gtg>Ttg	p.V88L	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	88	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AGAGGAAGTGGTGGGCTATTG	0.557000													17	21					3.51602e-12	5.70491e-12	0.049695	1	0
RGS4	5999	broad.mit.edu	37	1	163044230	163044230	+	Silent	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:163044230C>G	ENST00000421743.2	+	6	949	c.789C>G	c.(787-789)cgC>cgG	p.R263R	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Silent_p.R166R|RGS4_ENST00000367906.3_Silent_p.R148R|RGS4_ENST00000527809.1_Silent_p.R148R|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	166					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						ATTCCTACCGCCGCTTCCTCA	0.507000													125	192					0	0	0.139131	0	0
TBC1D5	9779	broad.mit.edu	37	3	17413737	17413737	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:17413737C>A	ENST00000253692.7	-	13	2489	c.825G>T	c.(823-825)ggG>ggT	p.G275G	TBC1D5_ENST00000446818.2_Silent_p.G275G|TBC1D5_ENST00000429383.4_Silent_p.G275G|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Silent_p.G227G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	275	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GTGTTTCTTTCCCCTAAAAAC	0.318000													10	25					1.76689e-08	2.52087e-08	0.058154	1	0
MSC	9242	broad.mit.edu	37	8	72754983	72754983	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:72754983C>A	ENST00000325509.4	-	2	824		c.e2-1		MSC_ENST00000518440.1_Splice_Site|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin						transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ATGGCCATGTCTGTAAATCAA	0.478000													47	179					3.05275e-18	5.67674e-18	0.131918	1	0
NUP214	8021	broad.mit.edu	37	9	134073366	134073366	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:134073366G>T	ENST00000359428.5	+	29	4629	c.4485G>T	c.(4483-4485)gaG>gaT	p.E1495D	NUP214_ENST00000483497.2_Missense_Mutation_p.E321D|NUP214_ENST00000451030.1_Missense_Mutation_p.E1496D|NUP214_ENST00000411637.2_Missense_Mutation_p.E1485D			P35658	NU214_HUMAN	nucleoporin 214kDa	1495	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCACAGAAGAGGCCACTTCAT	0.557000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								18	72					2.39187e-15	4.22245e-15	0.049695	1	0
GPR85	54329	broad.mit.edu	37	7	112724005	112724005	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:112724005C>A	ENST00000501255.2	-	3	1395	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	GPR85_ENST00000424100.1_Missense_Mutation_p.G258C|GPR85_ENST00000449591.1_Missense_Mutation_p.G258C|GPR85_ENST00000297146.2_Missense_Mutation_p.G258C	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	258						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGCCTGATGCCCAGCAAGGTG	0.498000													23	81					6.44725e-10	9.81168e-10	0.069288	1	0
DCDC1	341019	broad.mit.edu	37	11	30953441	30953441	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:30953441G>T	ENST00000597505.1	-	20	2773	c.2774C>A	c.(2773-2775)cCc>cAc	p.P925H	DCDC1_ENST00000339794.5_Missense_Mutation_p.P4H|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	277					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTACAGATGGGTTTCTTCAT	0.413000													11	33					1.49906e-05	1.86187e-05	0.119110	1	0
PTPRN2	5799	broad.mit.edu	37	7	157931198	157931198	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:157931198A>T	ENST00000389413.3	-	7	1023	c.920T>A	c.(919-921)aTt>aAt	p.I307N	PTPRN2_ENST00000404321.2_Missense_Mutation_p.I330N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.I307N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.I269N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.I290N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	307						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GAGGGTATGAATCCGTGCTCC	0.622000													3	5					0	0	0.014758	0	0
CCDC68	80323	broad.mit.edu	37	18	52604064	52604064	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:52604064C>A	ENST00000591504.1	-	6	745	c.471_splice	c.e6+1	p.Q157_splice	CCDC68_ENST00000337363.4_Splice_Site_p.Q157_splice|CCDC68_ENST00000432185.1_Splice_Site_p.Q157_splice	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	157										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGTTTGGTACCTGGAGTAATT	0.438000													3	32					1.23904e-05	1.54181e-05	0.014758	1	0
NEK5	341676	broad.mit.edu	37	13	52676102	52676102	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:52676102G>T	ENST00000355568.4	-	11	998	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	287							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P344S(1)|p.P287S(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CGAGAAGCTGGCGCTCCTGCT	0.448000													17	56					3.99206e-14	6.81119e-14	0.043863	1	0
KYNU	8942	broad.mit.edu	37	2	143798074	143798074	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:143798074G>A	ENST00000264170.4	+	13	1377	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	KYNU_ENST00000409512.1_Silent_p.K373K	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	373					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACCTGATCAAGCATAACTATG	0.413000													17	75					0	0	0.146539	0	0
CAGE1	285782	broad.mit.edu	37	6	7374192	7374192	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:7374192G>A	ENST00000502583.1	-	5	1424	c.860C>T	c.(859-861)cCt>cTt	p.P287L	CAGE1_ENST00000509324.1_5'UTR|CAGE1_ENST00000512086.1_Missense_Mutation_p.P287L|CAGE1_ENST00000296742.7_Missense_Mutation_p.P151L|CAGE1_ENST00000379918.4_Missense_Mutation_p.P287L|CAGE1_ENST00000338150.4_Missense_Mutation_p.P287L	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	287										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCCCAGTCAGGCATCTCACA	0.468000													8	40					0	0	0.038147	0	0
PHGDH	26227	broad.mit.edu	37	1	120277957	120277957	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:120277957G>T	ENST00000369407.3	+	6	2088	c.581G>T	c.(580-582)gGg>gTg	p.G194V	PHGDH_ENST00000369409.4_Missense_Mutation_p.G228V			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	228					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCAAGAAGGGGGTGCGTGTG	0.637000													22	145					7.07758e-08	9.76116e-08	0.099896	1	0
PI15	51050	broad.mit.edu	37	8	75737719	75737719	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:75737719G>T	ENST00000260113.2	+	2	414	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.G79C|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	79						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCAAGTTCGGGGCAAAGTGTT	0.388000													7	25					8.12818e-05	9.66043e-05	0.029380	1	0
GPNMB	10457	broad.mit.edu	37	7	23313764	23313764	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:23313764G>A	ENST00000258733.4	+	11	1899	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	GPNMB_ENST00000539136.1_Missense_Mutation_p.R436H|GPNMB_ENST00000381990.2_Missense_Mutation_p.R547H|GPNMB_ENST00000453162.2_Missense_Mutation_p.R489H|GPNMB_ENST00000478451.1_3'UTR			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	547					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTTCTCAACCGTGCAAAAGCC	0.413000													3	56					0	0	0.009096	0	0
ZMYND11	10771	broad.mit.edu	37	10	226021	226021	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:226021G>T	ENST00000397962.3	+	2	497	c.69G>T	c.(67-69)gaG>gaT	p.E23D	ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E23D|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E23D|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E23D|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000309776.4_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	483					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGCCATTGAGATTATACGGA	0.383000													32	109					1.59361e-14	2.75449e-14	0.092188	1	0
IL21R	50615	broad.mit.edu	37	16	27456509	27456509	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:27456509G>T	ENST00000337929.3	+	7	1170	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C	IL21R_ENST00000395754.4_Missense_Mutation_p.G233C|IL21R_ENST00000395755.1_Missense_Mutation_p.G233C|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.G233C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	233					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GTTAAAGGAAGGCTGGAACCC	0.542000			T	BCL6	NHL								5	15					0.014758	0.0156567	0.014758	1	0
PTPRB	5787	broad.mit.edu	37	12	71029628	71029628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:71029628G>A	ENST00000334414.6	-	2	318	c.274C>T	c.(274-276)Cga>Tga	p.R92*	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R91*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R92*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGGTCCATCGGGGTGCCTGG	0.547000													10	15					0	0	0.080935	0	0
CDH9	1007	broad.mit.edu	37	5	26906108	26906108	+	Silent	SNP	C	C	A	rs141361996		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:26906108C>A	ENST00000231021.4	-	5	943	c.771G>T	c.(769-771)acG>acT	p.T257T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	257	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T257T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATCTGTCAGCGTGATGTTCA	0.463000													62	75					5.22007e-41	1.03155e-40	0.139131	1	0
DAB1	1600	broad.mit.edu	37	1	57480832	57480832	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:57480832C>G	ENST00000371236.2	-	12	1431	c.1168G>C	c.(1168-1170)Gtc>Ctc	p.V390L	DAB1_ENST00000371234.4_Missense_Mutation_p.V390L|DAB1_ENST00000439789.2_Missense_Mutation_p.V304L|DAB1_ENST00000371231.1_Missense_Mutation_p.V423L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.V388L|DAB1_ENST00000414851.2_Missense_Mutation_p.V372L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	423					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGCCTGGGACGGTGGCAAGG	0.587000													6	29					0	0	0.038147	0	0
POSTN	10631	broad.mit.edu	37	13	38143960	38143960	+	Splice_Site	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:38143960T>C	ENST00000379747.4	-	20	2387		c.e20-2		POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTCAGGACCTATGAGAAGGA	0.378000													7	26					0	0	0.038147	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622307	18622307	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:18622307G>A	ENST00000380548.4	+	5	880	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D181N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	181						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCAACGGAGATGGGTCCAC	0.517000													4	52					0	0	0.014758	0	0
RCN3	57333	broad.mit.edu	37	19	50040313	50040313	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:50040313G>C	ENST00000270645.3	+	4	916	c.469G>C	c.(469-471)Gat>Cat	p.D157H	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	157						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGACGTGGAGGATGCAGAGAC	0.532000													33	152					0	0	0.064281	0	0
OR5T2	219464	broad.mit.edu	37	11	55999935	55999935	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55999935C>A	ENST00000313264.4	-	1	802	c.727G>T	c.(727-729)Ggc>Tgc	p.G243C		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCGATAGAGCCCACAAAGTAG	0.428000													29	101					9.39395e-14	1.57438e-13	0.116897	1	0
OR5D16	390144	broad.mit.edu	37	11	55606690	55606690	+	Missense_Mutation	SNP	G	G	T	rs143345816		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55606690G>T	ENST00000378396.1	+	1	463	c.463G>T	c.(463-465)Gtc>Ttc	p.V155F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGCATGGGGAGTCGCATGTTC	0.453000													21	71					8.34094e-07	1.08909e-06	0.049695	1	0
CDH10	1008	broad.mit.edu	37	5	24535332	24535332	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:24535332C>A	ENST00000264463.4	-	5	1210	c.703G>T	c.(703-705)Gtg>Ttg	p.V235L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	235	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGGATGACCACTTGGTATTGC	0.453000										HNSCC(23;0.051)			13	47					9.31168e-06	1.16749e-05	0.105934	1	0
ENAM	10117	broad.mit.edu	37	4	71510331	71510331	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:71510331C>G	ENST00000396073.3	+	9	3469	c.3188C>G	c.(3187-3189)gCa>gGa	p.A1063G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1063					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCCAAATTAGCAAAGCATCAC	0.453000													19	95					0	0	0.049695	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55614842	55614842	+	Silent	SNP	C	C	A	rs144418099	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:55614842C>A	ENST00000263433.3	-	4	681	c.666G>T	c.(664-666)cgG>cgT	p.R222R	PPP1R12C_ENST00000435544.2_Silent_p.R148R|PPP1R12C_ENST00000376393.2_Silent_p.R222R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	222						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGCGGGGGTGCCGGGCCTCTG	0.612000													6	6					0.00198382	0.00218881	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:179575439C>T	ENST00000589042.1	-	98	28609	c.28385G>A	c.(28384-28386)gGa>gAa	p.G9462E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8218E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9145E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9145	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAATCTCCTTTGTCTAC	0.438000													18	84					0	0	0.062417	0	0
MAEL	84944	broad.mit.edu	37	1	166973455	166973455	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:166973455C>A	ENST00000367872.4	+	6	806	c.562C>A	c.(562-564)Cgt>Agt	p.R188S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R157S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	188					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAATTTTGAACGTGGGCATAA	0.373000													34	77					5.8336e-16	1.04374e-15	0.059317	1	0
OR6W1P	89883	broad.mit.edu	37	7	142759700	142759700	+	RNA	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:142759700C>G	ENST00000496192.1	-	0	826					NR_002140.1															central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GTTACCATTGCAGTCACCATG	0.527000													3	9					0	0	0.115264	0	0
OR2M3	127062	broad.mit.edu	37	1	248367278	248367278	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:248367278G>T	ENST00000456743.1	+	1	947	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATTCATGAAGATCTTAGGAA	0.418000													72	141					3.47267e-51	6.92443e-51	0.139131	1	0
GDPGP1	390637	broad.mit.edu	37	15	90784186	90784186	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:90784186C>T	ENST00000558017.1	+	4	466	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P16S	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	16					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										TTTGCTGCCTCCCAACAATGA	0.468000													20	52					0	0	0.083992	0	0
OR14J1	442191	broad.mit.edu	37	6	29274621	29274621	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:29274621G>A	ENST00000377160.2	+	1	219	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GTGGACCGTCGTCTCCATTCC	0.463000													43	163					0	0	0.098360	0	0
PSKH2	85481	broad.mit.edu	37	8	87076366	87076366	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:87076366T>A	ENST00000276616.2	-	2	754	c.680A>T	c.(679-681)gAg>gTg	p.E227V	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	227	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGCTATGTACTCTGGGGTCCC	0.453000													4	62					0	0	0.009096	0	0
CDH12	1010	broad.mit.edu	37	5	21802410	21802410	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:21802410G>C	ENST00000382254.1	-	10	2208	c.1122C>G	c.(1120-1122)agC>agG	p.S374R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S334R|CDH12_ENST00000504376.2_Missense_Mutation_p.S374R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	374	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGTCCAGCACGCTGATCTTCA	0.532000										HNSCC(59;0.17)			8	68					0	0	0.058154	0	0
NDST2	8509	broad.mit.edu	37	10	75567205	75567205	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:75567205C>T	ENST00000299641.4	-	4	1543	c.573G>A	c.(571-573)ttG>ttA	p.L191L	NDST2_ENST00000309979.6_Silent_p.L314L	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	314	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)					CGATGTCTACCAAGATGTAGC	0.478000													15	67					0	0	0.146539	0	0
PCDH17	27253	broad.mit.edu	37	13	58299106	58299106	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:58299106C>T	ENST00000377918.3	+	4	3184	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1053					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACAAAAGGCTCCCTGGATGGC	0.547000													16	51					0	0	0.033300	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:76572217C>A	ENST00000307431.8	+	20	3582	c.3197C>A	c.(3196-3198)tCt>tAt	p.S1066Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358000													18	37					1.00905e-13	1.68684e-13	0.049695	1	0
RFTN2	130132	broad.mit.edu	37	2	198508925	198508925	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:198508925G>T	ENST00000295049.3	-	3	931	c.395C>A	c.(394-396)tCt>tAt	p.S132Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	132						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TTGTGCCTCAGAAGTTAGGGG	0.413000													8	34					1.76689e-08	2.52087e-08	0.058154	1	0
USP6NL	9712	broad.mit.edu	37	10	11505366	11505366	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:11505366C>A	ENST00000379237.1	-	15	1955	c.1561G>T	c.(1561-1563)Ggt>Tgt	p.G521C	USP6NL_ENST00000277575.5_Missense_Mutation_p.G538C	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	521						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCGGCAGGACCTGGGACGGTA	0.597000													25	73					9.80776e-20	1.84978e-19	0.116897	1	0
VPS13D	55187	broad.mit.edu	37	1	12445382	12445382	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:12445382G>A	ENST00000358136.3	+	59	11564	c.11434G>A	c.(11434-11436)Gaa>Aaa	p.E3812K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3787K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3811					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCTGTCACCGAACAAGAGCT	0.363000													3	50					0	0	0.115264	0	0
OR5L1	219437	broad.mit.edu	37	11	55579086	55579086	+	Silent	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55579086G>C	ENST00000333973.2	+	1	233	c.144G>C	c.(142-144)ctG>ctC	p.L48L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGATTGCACTGATTCAGGTCA	0.478000													39	148					0	0	0.086207	0	0
ECEL1	9427	broad.mit.edu	37	2	233345520	233345520	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:233345520A>T	ENST00000304546.1	-	16	2269	c.2059T>A	c.(2059-2061)Tat>Aat	p.Y687N	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y685N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	687					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACTTCTGATAGGCCTGGGGA	0.617000													5	2					0	0	0.014758	0	0
DIDO1	11083	broad.mit.edu	37	20	61528110	61528110	+	Silent	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:61528110T>A	ENST00000266070.4	-	7	2152	c.1827A>T	c.(1825-1827)tcA>tcT	p.S609S	DIDO1_ENST00000395340.1_Silent_p.S609S|DIDO1_ENST00000395343.1_Silent_p.S609S|DIDO1_ENST00000395335.2_Silent_p.S609S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	609					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)					GCCTGGCAGCTGAAGCACCAC	0.632000													8	26					0	0	0.047766	0	0
GRHL2	79977	broad.mit.edu	37	8	102570665	102570665	+	Missense_Mutation	SNP	T	T	A	rs140106332	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:102570665T>A	ENST00000251808.3	+	4	641	c.303T>A	c.(301-303)agT>agA	p.S101R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S85R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	101						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGGCACCAGTGAAGCCCAGA	0.453000													26	119					0	0	0.125774	0	0
FAM135B	51059	broad.mit.edu	37	8	139163755	139163755	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:139163755G>T	ENST00000395297.1	-	13	3133	c.2963C>A	c.(2962-2964)aCt>aAt	p.T988N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	988										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGGGTCACAGTGGGGCACAC	0.493000										HNSCC(54;0.14)			37	68					4.11147e-13	6.82154e-13	0.064281	1	0
FLG2	388698	broad.mit.edu	37	1	152325628	152325628	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:152325628C>A	ENST00000388718.5	-	3	4706	c.4634G>T	c.(4633-4635)gGa>gTa	p.G1545V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1545							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGTCTGTCCATGAGTAAT	0.488000													81	133					1.26373e-49	2.51228e-49	0.139131	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28733910	28733910	+	RNA	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:28733910C>G	ENST00000550043.1	+	0	315																											GCTGGACGCACAGCATGAGTC	0.478000													9	34					0	0	0.058154	0	0
AMACR	23600	broad.mit.edu	37	5	33989444	33989444	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:33989444C>A	ENST00000335606.6	-	5	991	c.903G>T	c.(901-903)gaG>gaT	p.E301D	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.E286D|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.E301D	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	301					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAACAACCTCCTCAAAAGTCA	0.512000													13	114					2.31682e-05	2.835e-05	0.132662	1	0
SCN9A	6335	broad.mit.edu	37	2	167168245	167168245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:167168245C>A	ENST00000375387.4	-	2	362	c.22G>T	c.(22-24)Gga>Tga	p.G8*	SCN9A_ENST00000409435.1_Nonsense_Mutation_p.G8*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.G8*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.G8*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	8						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)	CTCTGAGGTCCTGGGGGAGGC	0.403000													22	80					3.5997e-14	6.15762e-14	0.069288	1	0
COL15A1	1306	broad.mit.edu	37	9	101767203	101767203	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:101767203A>T	ENST00000375001.3	+	9	1647	c.1224A>T	c.(1222-1224)ttA>ttT	p.L408F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	408	4 X tandem repeats.|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)				AAGAGCGTTTAGCAGCAACAG	0.597000													35	143					0	0	0.086207	0	0
UST	10090	broad.mit.edu	37	6	149208153	149208153	+	Silent	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:149208153A>T	ENST00000367463.4	+	2	382	c.279A>T	c.(277-279)ccA>ccT	p.P93P		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	93					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCATGGACCACCTCCTAGTA	0.368000													25	62					0	0	0.050027	0	0
LPAR2	9170	broad.mit.edu	37	19	19737528	19737528	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:19737528T>C	ENST00000542587.1	-	5	1468	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	LPAR2_ENST00000407877.3_Missense_Mutation_p.Y189C|LPAR2_ENST00000586703.1_Missense_Mutation_p.Y189C			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	189					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GACGGCCAAATAGGAGCGGCT	0.657000													3	6					0	0	0.009096	0	0
LAMB1	3912	broad.mit.edu	37	7	107601760	107601760	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:107601760G>T	ENST00000393561.1	-	15	2256	c.2072C>A	c.(2071-2073)cCt>cAt	p.P691H	LAMB1_ENST00000222399.6_Missense_Mutation_p.P667H|LAMB1_ENST00000393560.1_Missense_Mutation_p.P667H			P07942	LAMB1_HUMAN	laminin, beta 1	667	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGGCCGAGGAAGGACGAC	0.473000													13	42					6.94344e-10	1.05184e-09	0.038395	1	0
NRXN1	9378	broad.mit.edu	37	2	50758512	50758512	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:50758512C>A	ENST00000404971.1	-	12	3659	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	NRXN1_ENST00000401669.2_Missense_Mutation_p.V734F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V726F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.V726F|NRXN1_ENST00000406859.3_Missense_Mutation_p.V734F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V734F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	734	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTATGCATGACTACGGGGAGC	0.463000													7	27					8.12818e-05	9.66043e-05	0.029380	1	0
FMN1	342184	broad.mit.edu	37	15	33446150	33446150	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:33446150C>A	ENST00000559047.1	-	1	965	c.966G>T	c.(964-966)aaG>aaT	p.K322N	FMN1_ENST00000320930.7_Missense_Mutation_p.K322N|FMN1_ENST00000561249.1_Missense_Mutation_p.K322N			Q68DA7	FMN1_HUMAN	formin 1	322	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGGTTTCTGCTTGCAAGTCC	0.498000													3	21					0.115264	0.119226	0.115264	1	0
XIRP2	129446	broad.mit.edu	37	2	168102985	168102985	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:168102985C>A	ENST00000409195.1	+	9	5172	c.5083C>A	c.(5083-5085)Ctt>Att	p.L1695I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1473I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1695I|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1520					actin cytoskeleton organization	cell junction	actin binding	p.L1695F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTATTGTCTTCTTCATGAAAA	0.333000													20	55					1.55795e-14	2.6999e-14	0.062417	1	0
TRBV5-1	28614	broad.mit.edu	37	7	142021269	142021269	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:142021269C>A	ENST00000390381.3	+	0	558																											CTGGTCGATTCTCAGGGCGCC	0.532000													9	29					5.4927e-09	8.09837e-09	0.047766	1	0
LAMB1	3912	broad.mit.edu	37	7	107601761	107601761	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:107601761G>T	ENST00000393561.1	-	15	2255	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	LAMB1_ENST00000222399.6_Missense_Mutation_p.P667T|LAMB1_ENST00000393560.1_Missense_Mutation_p.P667T			P07942	LAMB1_HUMAN	laminin, beta 1	667	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGGCCGAGGAAGGACGACA	0.473000													13	44					9.16793e-09	1.32805e-08	0.033300	1	0
FAM135B	51059	broad.mit.edu	37	8	139164945	139164945	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:139164945C>A	ENST00000395297.1	-	13	1943	c.1773G>T	c.(1771-1773)ggG>ggT	p.G591G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	591										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTGCTTAGCCCAGTCCTGT	0.458000										HNSCC(54;0.14)			46	122					1.35964e-18	2.53544e-18	0.139131	1	0
GRB14	2888	broad.mit.edu	37	2	165365355	165365355	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:165365355C>G	ENST00000263915.3	-	7	1362	c.824G>C	c.(823-825)cGg>cCg	p.R275P	GRB14_ENST00000543549.1_Missense_Mutation_p.R188P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGCAAATGCCGCGGTTCCTT	0.323000													9	49					0	0	0.047766	0	0
GPR22	2845	broad.mit.edu	37	7	107115572	107115572	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:107115572C>A	ENST00000304402.4	+	3	2410	c.1067C>A	c.(1066-1068)gCt>gAt	p.A356D	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	356						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTAGTCATGGCTTATGGAACA	0.313000													12	38					9.31168e-06	1.16749e-05	0.105934	1	0
ALG14	199857	broad.mit.edu	37	1	95530454	95530454	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:95530454G>C	ENST00000370205.4	-	2	302	c.256C>G	c.(256-258)Cta>Gta	p.L86V	RP11-313A24.1_ENST00000451611.1_RNA|ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	86					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GCTCGATCTAGTTCAAAAGAA	0.368000													25	111					0	0	0.116897	0	0
PDS5A	23244	broad.mit.edu	37	4	39839659	39839659	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:39839659G>C	ENST00000303538.8	-	32	4366	c.3827C>G	c.(3826-3828)tCt>tGt	p.S1276C		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1276					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGAGATTCAGACTTGGGTCG	0.493000													5	29					0	0	0.021553	0	0
ECHDC3	79746	broad.mit.edu	37	10	11797576	11797576	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:11797576G>T	ENST00000379215.4	+	4	771	c.560G>T	c.(559-561)gGg>gTg	p.G187V	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	187						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						TCTACCCCTGGGGTTGCCTTG	0.592000													6	16					5.4927e-09	8.09837e-09	0.047766	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291494	141291494	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:141291494C>G	ENST00000247452.3	-	3	627	c.280G>C	c.(280-282)Ggt>Cgt	p.G94R		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	94	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					tgggaaggaccctgtggagga	0.557000										HNSCC(46;0.14)			19	63					0	0	0.043863	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460824	130460824	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:130460824G>T	ENST00000529410.1	+	25	2748	c.2269G>T	c.(2269-2271)Ggc>Tgc	p.G757C	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.G732C|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.G757C|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.G757C|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.G732C|RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.G732C			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	757	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.I748_G757del(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATTAAACTGGGCCCTGCTCT	0.358000													9	20					0.0581538	0.060818	0.058154	1	0
PRRC2C	23215	broad.mit.edu	37	1	171509980	171509980	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:171509980C>T	ENST00000367742.3	+	16	3617	c.3375C>T	c.(3373-3375)aaC>aaT	p.N1125N	PRRC2C_ENST00000338920.4_Silent_p.N1123N|PRRC2C_ENST00000426496.2_Silent_p.N1123N|PRRC2C_ENST00000392078.3_Silent_p.N1125N			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1123							protein C-terminus binding										AGACTGTAAACCAACAGACTA	0.448000													12	47					0	0	0.105934	0	0
LMO7	4008	broad.mit.edu	37	13	76414562	76414562	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:76414562G>T	ENST00000357063.3	+	23	4929	c.3669G>T	c.(3667-3669)tgG>tgT	p.W1223C	LMO7_ENST00000377534.3_Missense_Mutation_p.W1223C|LMO7_ENST00000526202.1_Missense_Mutation_p.W815C|LMO7_ENST00000321797.8_Missense_Mutation_p.W938C|LMO7_ENST00000465261.2_Missense_Mutation_p.W938C|LMO7_ENST00000341547.4_Missense_Mutation_p.W889C			Q8WWI1	LMO7_HUMAN	LIM domain 7	1223						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CGAGTCGCTGGGTGTGGGATC	0.527000													8	30					4.68919e-08	6.53525e-08	0.069234	1	0
PTPRD	5789	broad.mit.edu	37	9	8500934	8500934	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:8500934T>G	ENST00000381196.4	-	21	2491	c.1948A>C	c.(1948-1950)Act>Cct	p.T650P	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T650P|PTPRD_ENST00000360074.4_Missense_Mutation_p.T637P|PTPRD_ENST00000540109.1_Missense_Mutation_p.T650P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T637P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	650	Fibronectin type-III 4.				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)		TCCACTGCAGTGTACTTGATG	0.438000										TSP Lung(15;0.13)			22	90					0	0	0.099896	0	0
DDR2	4921	broad.mit.edu	37	1	162745633	162745633	+	Splice_Site	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:162745633G>C	ENST00000367922.2	+	16	2486	c.2048_splice	c.e16+1	p.S683_splice	DDR2_ENST00000367921.3_Splice_Site_p.S683_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	683	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGCACTGTCAGGTAAACAAGC	0.478000													57	87					0	0	0.139131	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233451	56233451	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:56233451G>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CGAGAAGAACGTGAAGAAAAA	0.507000													3	10					0.00909568	0.00971184	0.009096	1	0
CCDC180	100499483	broad.mit.edu	37	9	100136836	100136836	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:100136836C>T	ENST00000375202.2	+	49	6096	c.4744C>T	c.(4744-4746)Ccc>Tcc	p.P1582S	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.P1582S|CCDC180_ENST00000357054.1_Missense_Mutation_p.P1527S|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		GATGGAGCCCCCCAAACAGAA	0.517000													5	24					0	0	0.021553	0	0
IQGAP1	8826	broad.mit.edu	37	15	91035818	91035818	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:91035818C>T	ENST00000268182.5	+	35	4627	c.4503C>T	c.(4501-4503)gcC>gcT	p.A1501A	IQGAP1_ENST00000560738.1_Silent_p.A929A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1501	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGAGAAAGGCCGAACTAGTGA	0.403000													9	70					0	0	0.080935	0	0
XIST	7503	broad.mit.edu	37	X	73062373	73062373	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:73062373C>A	ENST00000429829.1	-	0	10215					NR_001564.2																						TAGTTCAGGCCTGCTTTTCAT	0.398000													3	2					0.00024832	0.0002884	0.009096	1	0
PXDNL	137902	broad.mit.edu	37	8	52366079	52366079	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:52366079C>A	ENST00000356297.4	-	10	1349	c.1249_splice	c.e10+1	p.A417_splice	PXDNL_ENST00000543296.1_Splice_Site_p.A417_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	417					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTCCCATACCTTGTACAATT	0.393000													4	24					5.9392e-07	7.8166e-07	0.021553	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502493	90502493	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:90502493G>A	ENST00000325643.5	+	4	3157	c.3091G>A	c.(3091-3093)Gat>Aat	p.D1031N		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AAGGGCTGAAGATGCCCTGCA	0.592000													15	43					0	0	0.132662	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101811	46101811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:46101811G>T	ENST00000391617.1	-	1	267	c.228C>A	c.(226-228)tgC>tgA	p.C76*	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	76	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						AGGAAGGCTGGCAGCACCCAG	0.647000													12	19					1.56452e-12	2.55102e-12	0.043863	1	0
THBS4	7060	broad.mit.edu	37	5	79366218	79366218	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:79366218C>A	ENST00000350881.2	+	11	1627	c.1437C>A	c.(1435-1437)gcC>gcA	p.A479A	THBS4_ENST00000511733.1_Silent_p.A388A|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	479					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CATGCTCTGCCAGGAACTGTA	0.517000													12	41					2.27111e-07	3.07459e-07	0.093190	1	0
PIK3C3	5289	broad.mit.edu	37	18	39609346	39609346	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:39609346G>A	ENST00000262039.4	+	15	1734	c.1648G>A	c.(1648-1650)Gat>Aat	p.D550N	PIK3C3_ENST00000593098.1_Missense_Mutation_p.D35N|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D487N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	550					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GACATTTGTAGATCGGTTGGT	0.408000										TSP Lung(28;0.18)			10	38					0	0	0.069234	0	0
GTF2H2C	728340	broad.mit.edu	37	5	68875649	68875649	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:68875649C>G	ENST00000510979.1	+	11	910	c.715C>G	c.(715-717)Cct>Gct	p.P239A	GTF2H2C_ENST00000380729.3_Missense_Mutation_p.P239A|GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.P182A	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide 2C	239					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(1)|lung(1)	2						TCTTAGTCCTCCTCCTGCTAG	0.353000													4	147					0	0	0.014758	0	0
KDR	3791	broad.mit.edu	37	4	55972029	55972029	+	Missense_Mutation	SNP	C	C	T	rs55716939	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:55972029C>T	ENST00000263923.4	-	12	1910	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	539	Ig-like C2-type 5.		G -> R (in dbSNP:rs55716939).		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)	ACCCTCTCTCCTCTCCCGACT	0.473000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			69	265					0	0	0.139131	0	0
COL3A1	1281	broad.mit.edu	37	2	189875505	189875505	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:189875505G>T	ENST00000304636.3	+	50	4313	c.4143G>T	c.(4141-4143)caG>caT	p.Q1381H	COL3A1_ENST00000317840.5_Missense_Mutation_p.Q1078H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1381	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACATGGATCAGGCCAGTGGAA	0.458000													11	23					0.000673444	0.00076339	0.069234	1	0
MAGEB10	139422	broad.mit.edu	37	X	27840394	27840394	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:27840394C>A	ENST00000356790.2	+	3	1216	c.971C>A	c.(970-972)gCc>gAc	p.A324D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	324										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGAGTTGCAGCCAAGGCTCGC	0.488000													3	4					3.59834e-05	4.35484e-05	0.021553	1	0
OR4C16	219428	broad.mit.edu	37	11	55340087	55340087	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:55340087C>A	ENST00000314634.3	+	1	484	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTCTTGCCCTGAGTTTGCC	0.473000													28	82					4.43304e-23	8.63138e-23	0.116897	1	0
OR6W1P	89883	broad.mit.edu	37	7	142760166	142760166	+	RNA	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:142760166G>C	ENST00000496192.1	-	0	360					NR_002140.1															central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						AGATGGCCACGTAGCGATCAA	0.547000													3	11					0	0	0.014758	0	0
ENG	2022	broad.mit.edu	37	9	130587196	130587196	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:130587196G>T	ENST00000344849.3	-	7	1154	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	ENG_ENST00000373203.4_Missense_Mutation_p.L292I|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	292					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GTGTCTGGGAGCTTGAAGCCA	0.557000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				5	28					8.12818e-05	9.66043e-05	0.029380	1	0
ZNF618	114991	broad.mit.edu	37	9	116731397	116731397	+	Splice_Site	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:116731397G>T	ENST00000288466.7	+	2	133	c.33_splice	c.e2-1	p.A12_splice	ZNF618_ENST00000374126.5_Splice_Site_p.A12_splice	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCTTTTGCAGGCTGACGGAGC	0.557000													15	30					2.62699e-14	4.50535e-14	0.132662	1	0
OR4D1	26689	broad.mit.edu	37	17	56232771	56232771	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:56232771T>G	ENST00000268912.5	+	1	278	c.257T>G	c.(256-258)cTc>cGc	p.L86R		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTGGACTTCCTCCATGAGACC	0.517000													35	129					0	0	0.117977	0	0
SMPD4	55627	broad.mit.edu	37	2	130911008	130911008	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:130911008G>A	ENST00000409031.1	-	18	3174	c.2026C>T	c.(2026-2028)Ctc>Ttc	p.L676F	SMPD4_ENST00000431183.2_Missense_Mutation_p.L574F|SMPD4_ENST00000453750.1_Missense_Mutation_p.L425F|SMPD4_ENST00000351288.6_Missense_Mutation_p.L647F|SMPD4_ENST00000339679.7_Missense_Mutation_p.L534F|SMPD4_ENST00000452225.2_Missense_Mutation_p.L417F|SMPD4_ENST00000443958.2_Missense_Mutation_p.L340F|SMPD4_ENST00000426662.2_Missense_Mutation_p.L312F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	637					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACTGCCTGAGCTGCGCTTCG	0.572000													4	9					0	0	0.014758	0	0
ITGA8	8516	broad.mit.edu	37	10	15714633	15714633	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:15714633G>A	ENST00000378076.3	-	7	1145	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	264					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAAGGTAACTGTCATCATAGG	0.418000													15	81					0	0	0.146539	0	0
PARG	8505	broad.mit.edu	37	10	51130443	51130443	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:51130443C>A	ENST00000402038.3	-	2	145	c.146G>T	c.(145-147)aGc>aTc	p.S49I		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	534					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CTCCCACCGGCTCCCCGCAGT	0.423000													8	14					0.00448238	0.00491281	0.047766	1	0
SLC25A36	55186	broad.mit.edu	37	3	140678316	140678316	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:140678316A>G	ENST00000446041.2	+	3	443	c.218A>G	c.(217-219)gAa>gGa	p.E73G	SLC25A36_ENST00000453248.2_Intron|SLC25A36_ENST00000507429.1_Missense_Mutation_p.E73G|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000324194.6_Missense_Mutation_p.E73G	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	73					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTGATCTTGGAAAAAGAAGGG	0.343000													3	7					0	0	0.115264	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													5	47					0	0	0.029380	0	0
ZNF438	220929	broad.mit.edu	37	10	31134132	31134132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:31134132C>A	ENST00000538351.1	-	8	2852	c.2098G>T	c.(2098-2100)Gga>Tga	p.G700*	ZNF438_ENST00000413025.1_Nonsense_Mutation_p.G749*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.G313*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.G749*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.G749*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.G739*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.G739*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.G749*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.G739*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTGTTGGTTCCTGACTGGGGT	0.532000													28	64					1.32181e-22	2.55113e-22	0.125774	1	0
LRP1B	53353	broad.mit.edu	37	2	141819716	141819716	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:141819716G>T	ENST00000389484.3	-	8	2111	c.1140C>A	c.(1138-1140)gtC>gtA	p.V380V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	380					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)		CCAATTTGTTGACTAGGTCTA	0.433000										TSP Lung(27;0.18)			14	72					2.31682e-05	2.835e-05	0.132662	1	0
AP1B1	162	broad.mit.edu	37	22	29735017	29735017	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr22:29735017C>A	ENST00000357586.2	-	16	2311	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.V702L|AP1B1_ENST00000356015.2_Missense_Mutation_p.V702L|AP1B1_ENST00000432560.2_Missense_Mutation_p.V702L|AP1B1_ENST00000415447.1_Missense_Mutation_p.V702L|AP1B1_ENST00000405198.1_Missense_Mutation_p.V709L|AP1B1_ENST00000402502.1_Missense_Mutation_p.V702L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	709	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGTGCCCACGCCACTGGTC	0.572000													11	50					0.00185496	0.00206384	0.105934	1	0
MUC16	94025	broad.mit.edu	37	19	9006659	9006659	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:9006659T>A	ENST00000397910.4	-	44	39792	c.39589A>T	c.(39589-39591)Agt>Tgt	p.S13197C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13199	SEA 8.				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						TGCAGAACACTCTCCGTGATG	0.517000													126	405					0	0	0.139131	0	0
THSD7B	80731	broad.mit.edu	37	2	138378217	138378217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:138378217C>A	ENST00000409968.1	+	20	3898	c.3720C>A	c.(3718-3720)tgC>tgA	p.C1240*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.C1212*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.C1243*|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATTCCCTGCTTGGTGGAAT	0.468000													37	149					1.15505e-17	2.12992e-17	0.111260	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	76					0	0	0.009096	0	0
CENPK	64105	broad.mit.edu	37	5	64824356	64824356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:64824356C>A	ENST00000396679.1	-	9	734	c.520G>T	c.(520-522)Gag>Tag	p.E174*	CENPK_ENST00000242872.3_Nonsense_Mutation_p.E174*|CENPK_ENST00000514814.1_Nonsense_Mutation_p.E174*|CENPK_ENST00000510693.1_Nonsense_Mutation_p.E111*|CENPK_ENST00000508421.1_Nonsense_Mutation_p.E144*|CENPK_ENST00000506282.2_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	174					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AAGAGTTTCTCCTTATATTCT	0.279000													6	23					2.7689e-08	3.9335e-08	0.029380	1	0
DYSF	8291	broad.mit.edu	37	2	71747322	71747322	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:71747322C>A	ENST00000258104.3	+	10	1198	c.921C>A	c.(919-921)acC>acA	p.T307T	DYSF_ENST00000410041.1_Silent_p.T339T|DYSF_ENST00000409366.1_Silent_p.T308T|DYSF_ENST00000394120.2_Silent_p.T308T|DYSF_ENST00000413539.2_Silent_p.T338T|DYSF_ENST00000409651.1_Silent_p.T339T|DYSF_ENST00000409762.1_Silent_p.T338T|DYSF_ENST00000409744.1_Silent_p.T308T|DYSF_ENST00000409582.3_Silent_p.T338T|DYSF_ENST00000429174.2_Silent_p.T307T|DYSF_ENST00000410020.3_Silent_p.T339T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	307						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGTGGGCACCATTTACAGAG	0.468000													20	105					6.33239e-15	1.10317e-14	0.055883	1	0
KCNAB2	8514	broad.mit.edu	37	1	6147572	6147572	+	Splice_Site	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:6147572G>T	ENST00000164247.1	+	8	935		c.e8+1		KCNAB2_ENST00000352527.1_Splice_Site|KCNAB2_ENST00000458166.2_Splice_Site|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Splice_Site|KCNAB2_ENST00000378097.1_Splice_Site|KCNAB2_ENST00000341524.1_Splice_Site|KCNAB2_ENST00000602612.1_Splice_Site|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Splice_Site	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2							cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCGGAAAGTAGGTGCAAC	0.652000													3	20					0.00024832	0.0002884	0.009096	1	0
CDH26	60437	broad.mit.edu	37	20	58559833	58559833	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:58559833A>G	ENST00000348616.4	+	6	981	c.681A>G	c.(679-681)atA>atG	p.I227M	CDH26_ENST00000244047.5_Missense_Mutation_p.I227M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	227	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGAGAAATACGACTCTCTG	0.388000													11	41					0	0	0.105934	0	0
XRN1	54464	broad.mit.edu	37	3	142090172	142090172	+	Splice_Site	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:142090172T>A	ENST00000264951.4	-	26	3096		c.e26-2		XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTGGAGCTCTGGTCAAACAA	0.313000													9	20					0	0	0.080935	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044210	90044210	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:90044210G>T	ENST00000462693.1	+	0	161																											ATCTCCTTCAGGTCTAGTCAA	0.507000													32	101					4.65686e-17	8.49268e-17	0.064281	1	0
MKNK1	8569	broad.mit.edu	37	1	47037778	47037778	+	Silent	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:47037778C>G	ENST00000371946.4	-	7	613	c.450G>C	c.(448-450)gtG>gtC	p.V150V	MKNK1_ENST00000341183.5_Silent_p.V150V|MKNK1_ENST00000371944.4_Silent_p.V55V|MKNK1_ENST00000371945.4_Silent_p.V150V|MKNK1_ENST00000428112.2_Silent_p.V150V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	150	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CGTCCCGCACCACTCGGCTGG	0.567000													5	30					0	0	0.014758	0	0
CAPN7	23473	broad.mit.edu	37	3	15282982	15282982	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:15282982C>T	ENST00000253693.2	+	15	1928	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	559	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TAAGCAAGGACCTGTGAAAGA	0.413000													16	42					0	0	0.038395	0	0
RASL12	51285	broad.mit.edu	37	15	65347321	65347321	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:65347321C>A	ENST00000220062.4	-	5	993	c.717G>T	c.(715-717)aaG>aaT	p.K239N	RASL12_ENST00000434605.2_Missense_Mutation_p.K228N|RASL12_ENST00000421977.3_Missense_Mutation_p.K220N	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	239					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CGGTGACCAGCTTGGCCTGGG	0.647000											OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0.00909568	0.00971184	0.009096	1	0
DNMT3A	1788	broad.mit.edu	37	2	25463556	25463556	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:25463556G>A	ENST00000264709.3	-	18	2463	c.2126C>T	c.(2125-2127)cCc>cTc	p.P709L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P520L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P709L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P486L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	709					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCATTGCAGGGACTGCCCCC	0.597000			"""Mis, F, N, S"""		AML								14	86					0	0	0.033300	0	0
ASH1L	55870	broad.mit.edu	37	1	155327184	155327184	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:155327184C>T	ENST00000368346.3	-	15	7632	c.6993G>A	c.(6991-6993)gaG>gaA	p.E2331E	ASH1L_ENST00000392403.3_Silent_p.E2326E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2331					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTGGGTTCCTCAGAGAGAT	0.368000													12	86					0	0	0.105934	0	0
DNAH11	8701	broad.mit.edu	37	7	21813389	21813389	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:21813389G>T	ENST00000328843.6	+	57	9160	c.9129G>T	c.(9127-9129)gtG>gtT	p.V3043V	DNAH11_ENST00000409508.3_Silent_p.V3036V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3043	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAGCCAGTGCACAAAGACT	0.318000									Kartagener syndrome				5	28					0.00116845	0.00130661	0.021553	1	0
ITGAM	3684	broad.mit.edu	37	16	31289293	31289293	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:31289293G>A	ENST00000544665.3	+	12	1290	c.1219G>A	c.(1219-1221)Gct>Act	p.A407T	ITGAM_ENST00000287497.8_Missense_Mutation_p.A407T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	407					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGGTTATGCTGCCGCCAT	0.612000													8	11					0	0	0.047766	0	0
P2RY10	27334	broad.mit.edu	37	X	78216603	78216603	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:78216603G>C	ENST00000171757.2	+	4	866	c.586G>C	c.(586-588)Gtc>Ctc	p.V196L	P2RY10_ENST00000544091.1_Missense_Mutation_p.V196L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	196						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGTTGCGTTGGTCGGGATGAT	0.458000													54	59					0	0	0.139131	0	0
TKTL1	8277	broad.mit.edu	37	X	153539221	153539221	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:153539221T>C	ENST00000369915.3	+	4	574	c.385T>C	c.(385-387)Tcc>Ccc	p.S129P	TKTL1_ENST00000369912.2_Missense_Mutation_p.S73P|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	129					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATGGCGAGTCCTCAGAAGG	0.532000													13	45					0	0	0.119110	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356279	77356279	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:77356279G>T	ENST00000282849.5	-	14	2535	c.2117C>A	c.(2116-2118)cCc>cAc	p.P706H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGGAGCAGGGAGTTCCATC	0.393000													13	68					1.52009e-12	2.49084e-12	0.132662	1	0
SREK1IP1	285672	broad.mit.edu	37	5	64020382	64020382	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:64020382G>A	ENST00000513458.4	-	5	464	c.297C>T	c.(295-297)tcC>tcT	p.S99S		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	99	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						CCTCTTCAGTGGAACTGGATG	0.294000													7	50					0	0	0.038147	0	0
CPQ	10404	broad.mit.edu	37	8	98078430	98078430	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:98078430G>T	ENST00000220763.5	+	7	1457	c.1247G>T	c.(1246-1248)gGa>gTa	p.G416V	CPQ_ENST00000529551.1_3'UTR	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	416					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATCCAAGCTGGAGTGCCTGGT	0.418000													22	72					1.55469e-16	2.81204e-16	0.083992	1	0
DHX35	60625	broad.mit.edu	37	20	37639012	37639012	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:37639012G>A	ENST00000252011.3	+	13	1345	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	DHX35_ENST00000373323.4_Missense_Mutation_p.G407R|DHX35_ENST00000373325.2_Missense_Mutation_p.G438R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	438	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAAAGCACTAGGAATTGACAA	0.532000													4	33					0	0	0.014758	0	0
RP1L1	94137	broad.mit.edu	37	8	10480614	10480614	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:10480614G>T	ENST00000382483.3	-	2	321	c.98C>A	c.(97-99)gCc>gAc	p.A33D	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	33					intracellular signal transduction			p.A33D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GATCTTCTTGGCTGGCGTGAC	0.642000													8	24					0.000442599	0.000506046	0.058154	1	0
GMDS	2762	broad.mit.edu	37	6	1726733	1726733	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:1726733T>G	ENST00000380815.4	-	9	1173	c.904A>C	c.(904-906)Aat>Cat	p.N302H	GMDS_ENST00000530927.1_Missense_Mutation_p.N272H	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	302					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCATTTTCATTCTTTCCTTCC	0.493000													7	132					0	0	0.038147	0	0
SEPT6	23157	broad.mit.edu	37	X	118774740	118774740	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:118774740C>A	ENST00000394610.1	-	6	966	c.702G>T	c.(700-702)ccG>ccT	p.P234P	SEPT6_ENST00000343984.5_Silent_p.P234P|SEPT6_ENST00000394617.2_Silent_p.P264P|SEPT6_ENST00000360156.7_Silent_p.P234P|SEPT6_ENST00000394616.4_Silent_p.P176P|SEPT6_ENST00000354416.3_Silent_p.P234P|SEPT6_ENST00000354228.4_Silent_p.P234P|SEPT6_ENST00000489216.1_Silent_p.P234P	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	234					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGACAGCAAACGGCAGGTGGG	0.552000			T	MLL	AML								14	41					5.03518e-11	7.95535e-11	0.043863	1	0
COL5A1	1289	broad.mit.edu	37	9	137622275	137622275	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:137622275G>T	ENST00000371817.3	+	7	1532	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	373	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGCGCTGGGGCCGAAATT	0.607000													5	34					2.0095e-06	2.58308e-06	0.029380	1	0
STAT3	6774	broad.mit.edu	37	17	40481576	40481576	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:40481576T>C	ENST00000264657.5	-	13	1541	c.1229A>G	c.(1228-1230)cAc>cGc	p.H410R	STAT3_ENST00000389272.3_Missense_Mutation_p.H312R|STAT3_ENST00000585517.1_Missense_Mutation_p.H410R|STAT3_ENST00000404395.3_Missense_Mutation_p.H410R|STAT3_ENST00000588969.1_Missense_Mutation_p.H410R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	410					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACATACCAAGTGTTTGAATTC	0.498000									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	35					0	0	0.058154	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538980	23538980	+	Silent	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:23538980T>C	ENST00000380871.4	-	2	496	c.459A>G	c.(457-459)gaA>gaG	p.E153E	NKX3-1_ENST00000523261.1_Silent_p.E78E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	153					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GGTGGGCCCGTTCAGGGGCCG	0.567000													20	70					0	0	0.062417	0	0
OR6C6	283365	broad.mit.edu	37	12	55688318	55688318	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:55688318G>C	ENST00000358433.2	-	1	698	c.699C>G	c.(697-699)aaC>aaG	p.N233K		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAAATGCTTTGTTCCTTTGCT	0.388000													21	46					0	0	0.062417	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558715	61558715	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:61558715C>A	ENST00000457692.1	+	3	370	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	SERPINB2_ENST00000299502.4_Missense_Mutation_p.L13I	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	13					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ACTCTTTGCCCTCAATTTATT	0.458000													20	86					1.2644e-06	1.64447e-06	0.055883	1	0
RPL3L	6123	broad.mit.edu	37	16	2002894	2002894	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:2002894G>A	ENST00000268661.7	-	3	440	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TAGAATCGGCGCCGGCACTCA	0.627000													3	18					0	0	0.115264	0	0
CHGB	1114	broad.mit.edu	37	20	5904628	5904628	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:5904628A>G	ENST00000378961.4	+	4	2042	c.1838A>G	c.(1837-1839)tAc>tGc	p.Y613C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	613						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTCCTTCACTACAGGAAGAAG	0.537000													9	49					0	0	0.047766	0	0
HFM1	164045	broad.mit.edu	37	1	91851361	91851361	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:91851361C>A	ENST00000370425.3	-	5	623	c.525G>T	c.(523-525)ggG>ggT	p.G175G	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	175							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATAAGCACTCCCATGTATAT	0.323000													6	32					5.18039e-06	6.59504e-06	0.038147	1	0
ACTR8	93973	broad.mit.edu	37	3	53911340	53911340	+	Silent	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:53911340T>A	ENST00000335754.3	-	5	685	c.585A>T	c.(583-585)ccA>ccT	p.P195P	ACTR8_ENST00000482349.1_Silent_p.P84P	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	195					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCCCAGGGCCTGGGTGAATAT	0.423000													15	28					0	0	0.146539	0	0
RXRG	6258	broad.mit.edu	37	1	165376126	165376126	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:165376126C>G	ENST00000359842.5	-	9	1469	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	389	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGTCTCCACCTCAGAGGGGT	0.547000													13	102					0	0	0.105934	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2024090	2024090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:2024090C>T	ENST00000382722.5	-	2	601	c.239G>A	c.(238-240)tGg>tAg	p.W80*	CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W16*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W80*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W16*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W80*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.W80*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	80						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTGTCAGCCCATAGCTTCAC	0.522000													7	38					0	0	0.047766	0	0
NDN	4692	broad.mit.edu	37	15	23932081	23932081	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:23932081G>A	ENST00000331837.4	-	1	369	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	95					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)		CAGCTGCGCCGGGGCTGGCGG	0.677000									Prader-Willi syndrome				7	8					0	0	0.029380	0	0
ZNF165	7718	broad.mit.edu	37	6	28053589	28053589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:28053589G>T	ENST00000377325.1	+	2	887	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	111	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGTACATGAACATTACCC	0.522000													7	26					0.0293803	0.030775	0.029380	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951699	130951699	+	Missense_Mutation	SNP	G	G	C	rs148691540		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:130951699G>C	ENST00000312988.7	-	4	816	c.716C>G	c.(715-717)aCg>aGg	p.T239R		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	239					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGGGAGGCCGTGATGGAGGA	0.567000													15	70					0	0	0.132662	0	0
TRPM6	140803	broad.mit.edu	37	9	77353447	77353447	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:77353447C>A	ENST00000451710.3	-	35	5901	c.5664G>T	c.(5662-5664)cgG>cgT	p.R1888R	TRPM6_ENST00000376871.3_Silent_p.R721R|TRPM6_ENST00000376872.3_Silent_p.R839R|TRPM6_ENST00000361255.3_Silent_p.R1879R|TRPM6_ENST00000360774.1_Silent_p.R1884R|TRPM6_ENST00000449912.2_Silent_p.R1879R|TRPM6_ENST00000376864.4_Silent_p.R1888R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1884	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGTTATACTTCCGGAACTCCC	0.478000													8	44					2.17888e-05	2.68107e-05	0.058154	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961204	51961204	+	Silent	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:51961204C>G	ENST00000321424.3	-	1	504	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SIGLEC8_ENST00000430817.1_Silent_p.L146L|SIGLEC8_ENST00000340550.5_Silent_p.L146L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	146					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAAACACAGACAGCTGCTTAG	0.532000													19	89					0	0	0.055883	0	0
PARD3B	117583	broad.mit.edu	37	2	206265804	206265804	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:206265804C>T	ENST00000406610.2	+	19	2905	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L	PARD3B_ENST00000351153.1_Silent_p.L831L|PARD3B_ENST00000358768.2_Silent_p.L838L|PARD3B_ENST00000349953.3_Silent_p.L900L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	900				GTLKHGGLR -> WLINFVLIW (in Ref. 4; BAB71623).	cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACATGGTGGCCTGAGAGAAGA	0.433000													4	24					0	0	0.014758	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619881	28619881	+	Silent	SNP	A	A	G	rs146871724		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:28619881A>G	ENST00000395609.1	-	5	950	c.192T>C	c.(190-192)ggT>ggC	p.G64G	SULT1A1_ENST00000395607.1_Silent_p.G64G|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.G64G|SULT1A1_ENST00000314752.7_Silent_p.G64G			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	64					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCAGGTCACCACCCTGGTAGA	0.592000													9	23					0	0	0.047766	0	0
BRCA1	672	broad.mit.edu	37	17	41244214	41244214	+	Nonsense_Mutation	SNP	C	C	A	rs80357701		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:41244214C>A	ENST00000309486.4	-	9	3473	c.2446G>T	c.(2446-2448)Gaa>Taa	p.E816*	BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1065*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1112*	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1112					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCATATTCTTGCTTTTTT	0.353000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			19	71					2.94398e-08	4.16435e-08	0.043863	1	0
CHRM2	1129	broad.mit.edu	37	7	136700781	136700781	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:136700781T>G	ENST00000445907.2	+	3	1697	c.1169T>G	c.(1168-1170)tTg>tGg	p.L390W	CHRM2_ENST00000402486.3_Missense_Mutation_p.L390W|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L390W|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L390W|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L390W|CHRM2_ENST00000453373.1_Missense_Mutation_p.L390W|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	390					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGGACAATCTTGGCTATTCTG	0.468000													4	112					0	0	0.021553	0	0
OR52A1	23538	broad.mit.edu	37	11	5173456	5173456	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:5173456C>T	ENST00000380367.1	-	2	561	c.144G>A	c.(142-144)ctG>ctA	p.L48L	OR52A1_ENST00000328942.1_Silent_p.L48L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	48					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATGCTCAGAAGCAAGG	0.463000													12	33					0	0	0.093190	0	0
CCDC15	80071	broad.mit.edu	37	11	124857980	124857980	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:124857980C>G	ENST00000529051.1	+	8	2117	c.1858C>G	c.(1858-1860)Cag>Gag	p.Q620E	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q620E			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	620						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTCCAACGACCAGAATATTCT	0.398000													38	172					0	0	0.098360	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432054	117432054	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:117432054G>T	ENST00000160373.3	-	4	1287	c.1196C>A	c.(1195-1197)cCc>cAc	p.P399H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.							p.P399L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527000													31	114					2.20474e-14	3.80087e-14	0.064281	1	0
HMCN1	83872	broad.mit.edu	37	1	186064378	186064378	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:186064378C>A	ENST00000271588.4	+	68	10527	c.10298C>A	c.(10297-10299)cCa>cAa	p.P3433Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3433Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3433					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATGTAGCACCACCAAATATG	0.368000													13	55					2.27111e-07	3.07459e-07	0.093190	1	0
CRHR1	1394	broad.mit.edu	37	17	43907806	43907806	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:43907806C>A	ENST00000314537.5	+	7	804	c.579C>A	c.(577-579)gcC>gcA	p.A193A	CRHR1_ENST00000577353.1_Silent_p.A193A|CRHR1_ENST00000398285.3_Silent_p.A222A|CRHR1_ENST00000352855.5_Silent_p.A153A|CRHR1_ENST00000339069.5_Silent_p.A92A|CRHR1_ENST00000293493.7_Silent_p.A18A	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGTGACAGCCGCCTACAACT	0.632000													5	16					2.0095e-06	2.58308e-06	0.029380	1	0
GPR112	139378	broad.mit.edu	37	X	135427080	135427080	+	Silent	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:135427080A>C	ENST00000394143.1	+	6	1506	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	GPR112_ENST00000412101.1_Silent_p.S200S|GPR112_ENST00000394141.1_Silent_p.S200S|GPR112_ENST00000287534.4_Silent_p.S342S|GPR112_ENST00000370652.1_Silent_p.S405S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	405					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTATTTTCAACTATTGAGT	0.393000													108	241					0	0	0.139131	0	0
LOC100506136	100506136	broad.mit.edu	37	7	96251856	96251856	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:96251856C>A	ENST00000606019.1	-	0	689					NR_038948.1																						GGGCTTGGTACCTTTGCCTTC	0.433000													7	33					0.000274275	0.000315226	0.047766	1	0
NR0B1	190	broad.mit.edu	37	X	30326995	30326995	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:30326995C>T	ENST00000378970.4	-	1	720	c.486G>A	c.(484-486)gcG>gcA	p.A162A	NR0B1_ENST00000453287.1_Silent_p.A162A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	162	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GTGCCTCGGGCGCTGCCGGAG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5					0	0	0.014758	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148788	62148788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:62148788C>A	ENST00000416284.3	-	3	1708	c.124G>T	c.(124-126)Gga>Tga	p.G42*	FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.G42*|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	42						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCACAAGTTCCCGTTTTAACA	0.448000													25	13					3.73988e-18	6.93502e-18	0.116897	1	0
CAPSL	133690	broad.mit.edu	37	5	35921095	35921095	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:35921095C>A	ENST00000397367.2	-	2	254	c.128G>T	c.(127-129)gGa>gTa	p.G43V	CAPSL_ENST00000397366.1_Missense_Mutation_p.G43V|CAPSL_ENST00000514524.1_Missense_Mutation_p.G43V	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	43	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCTGCCAAGTCCTTTGATCCC	0.587000													25	140					8.58068e-18	1.58671e-17	0.125774	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881496	228881496	+	Silent	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:228881496A>G	ENST00000392056.3	-	7	4120	c.4074T>C	c.(4072-4074)agT>agC	p.S1358S	SPHKAP_ENST00000344657.5_Silent_p.S1358S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1358						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTTGGCCCACTGCACATCC	0.512000													6	30					0	0	0.021553	0	0
BCL9	607	broad.mit.edu	37	1	147094086	147094086	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:147094086C>G	ENST00000234739.3	+	9	3657	c.2917C>G	c.(2917-2919)Cct>Gct	p.P973A		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	973	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCCCACCTCCTACAGCCAG	0.493000			T	"""IGH@, IGL@"""	B-ALL								28	146					0	0	0.125774	0	0
COL15A1	1306	broad.mit.edu	37	9	101804358	101804358	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:101804358T>A	ENST00000375001.3	+	24	2966	c.2543T>A	c.(2542-2544)tTa>tAa	p.L848*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	848	Triple-helical region 4 (COL4).				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)				GACACTGGTTTACCTGGCTTT	0.418000													26	70					0	0	0.099896	0	0
PTPN14	5784	broad.mit.edu	37	1	214560235	214560235	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:214560235C>A	ENST00000366956.5	-	12	1212	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	340					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGACGTGAACGGGAGGCAGG	0.577000													13	13					3.27435e-08	4.60217e-08	0.119110	1	0
ABCC3	8714	broad.mit.edu	37	17	48742558	48742558	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:48742558G>T	ENST00000285238.8	+	11	1463	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	ABCC3_ENST00000427699.1_Missense_Mutation_p.L461F	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	461	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCATGGTCTTGCTGATTCCAC	0.587000													30	110					5.91797e-21	1.13228e-20	0.050027	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20563841	20563841	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:20563841C>A	ENST00000202677.6	-	20	2702	c.2560G>T	c.(2560-2562)Ggc>Tgc	p.G854C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	854					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGTACAGCCCAGAGTTGTG	0.448000													14	84					0.00316338	0.0034729	0.132662	1	0
KCNK2	3776	broad.mit.edu	37	1	215259901	215259901	+	Silent	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:215259901G>C	ENST00000444842.2	+	2	387	c.237G>C	c.(235-237)gtG>gtC	p.V79V	KCNK2_ENST00000391895.2_Silent_p.V75V|KCNK2_ENST00000391894.2_Silent_p.V64V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	79							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGCCACCGTGTTCAAAGCAT	0.483000													32	82					0	0	0.050027	0	0
FOXG1	2290	broad.mit.edu	37	14	29237372	29237372	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:29237372G>T	ENST00000382535.3	+	2	1256	c.887G>T	c.(886-888)gGc>gTc	p.G296V	FOXG1_ENST00000313071.4_Missense_Mutation_p.G296V			P55316	FOXG1_HUMAN	forkhead box G1	296					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCTCCACCGGCCTCACCTTC	0.697000													4	33					0.00116845	0.00130661	0.021553	1	0
TEKT1	83659	broad.mit.edu	37	17	6722663	6722663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:6722663C>A	ENST00000338694.2	-	3	334	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	69					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AACTGGACTTCCTCGAGTCTC	0.408000													8	23					5.16669e-11	8.12434e-11	0.080935	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964384	28964384	+	RNA	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:28964384G>T	ENST00000417404.1	+	0	4642				SMURF2P1_ENST00000578265.1_RNA																							ATTAAATATTGGTTTTTTACT	0.284000													3	9					0.004672	0.00509533	0.115264	1	0
ARR3	407	broad.mit.edu	37	X	69497335	69497335	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:69497335C>A	ENST00000374495.3	+	9	663	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	ARR3_ENST00000307959.8_Missense_Mutation_p.L189M			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	189					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CCGCTTCCTTCTGTCAGCTCA	0.597000													13	5					6.31663e-08	8.72987e-08	0.132662	1	0
FBN3	84467	broad.mit.edu	37	19	8173122	8173122	+	Splice_Site	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:8173122G>T	ENST00000600128.1	-	37	5033	c.4618_splice	c.e37-1	p.T1540_splice	FBN3_ENST00000270509.2_Splice_Site_p.T1540_splice|FBN3_ENST00000601739.1_Splice_Site_p.T1540_splice			Q75N90	FBN3_HUMAN	fibrillin 3	1540	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCTGTACTCAGCTGTAAAGGG	0.552000													11	50					3.86212e-05	4.65705e-05	0.069234	1	0
SDK1	221935	broad.mit.edu	37	7	4014040	4014040	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:4014040G>T	ENST00000404826.2	+	13	1996	c.1857G>T	c.(1855-1857)tcG>tcT	p.S619S	SDK1_ENST00000389531.3_Silent_p.S619S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	619	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGACTCCATCGAGCACGTCTA	0.542000													5	28					0.014758	0.0156567	0.014758	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640282	99640282	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:99640282G>A	ENST00000547776.2	-	13	2116	c.2117C>T	c.(2116-2118)gCa>gTa	p.A706V	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A286V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A706V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	706						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAATCCCCCTGCGTTCATAAC	0.443000													101	108					0	0	0.139131	0	0
PPM1L	151742	broad.mit.edu	37	3	160474254	160474254	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:160474254G>T	ENST00000498165.1	+	1	259	c.158G>T	c.(157-159)cGg>cTg	p.R53L	PPM1L_ENST00000497343.1_Missense_Mutation_p.R53L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	53					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGTCCAGCCGGGACGCCGTG	0.567000													29	35					1.06801e-11	1.72866e-11	0.144211	1	0
NID1	4811	broad.mit.edu	37	1	236192968	236192968	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:236192968G>T	ENST00000264187.6	-	7	1702	c.1620C>A	c.(1618-1620)atC>atA	p.I540I	NID1_ENST00000366595.3_Silent_p.I540I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	540	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CATGCTCATCGATGCCGCTGA	0.607000													5	21					1.06961e-07	1.46905e-07	0.038147	1	0
SRCAP	10847	broad.mit.edu	37	16	30747574	30747574	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:30747574G>T	ENST00000262518.4	+	32	7168	c.6783G>T	c.(6781-6783)aaG>aaT	p.K2261N	SRCAP_ENST00000395059.2_Missense_Mutation_p.K2199N|SRCAP_ENST00000344771.4_Missense_Mutation_p.K2103N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2261	Glu-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)			CCCAGGCCAAGGCTGAACAGG	0.517000													14	39					6.31663e-08	8.72987e-08	0.132662	1	0
OR5K1	26339	broad.mit.edu	37	3	98189145	98189145	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:98189145C>A	ENST00000332650.5	+	1	822	c.725C>A	c.(724-726)gCa>gAa	p.A242E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTACCTGTGCATCCCACTTT	0.348000													19	93					8.28177e-16	1.47777e-15	0.043863	1	0
EPRS	2058	broad.mit.edu	37	1	220154103	220154103	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:220154103C>T	ENST00000366923.3	-	25	3819	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1184	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TATACCTCTTCCGCTGCCTCT	0.383000													9	41					0	0	0.047766	0	0
KCNT2	343450	broad.mit.edu	37	1	196303157	196303157	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:196303157C>A	ENST00000367433.5	-	17	1918	c.1817G>T	c.(1816-1818)tGt>tTt	p.C606F	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.C606F|KCNT2_ENST00000451324.2_Missense_Mutation_p.C217F|KCNT2_ENST00000367431.4_Missense_Mutation_p.C556F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	606						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTGATCTACAGCTTGTATC	0.403000													21	38					1.10923e-09	1.6651e-09	0.076483	1	0
CHD7	55636	broad.mit.edu	37	8	61655383	61655383	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:61655383G>T	ENST00000423902.2	+	2	1871	c.1392G>T	c.(1390-1392)atG>atT	p.M464I	CHD7_ENST00000524602.1_Missense_Mutation_p.M464I|CHD7_ENST00000525508.1_Missense_Mutation_p.M464I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	464	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTATAGGCATGTCCTCGGCAC	0.557000													6	18					3.59834e-05	4.35484e-05	0.021553	1	0
HEPH	9843	broad.mit.edu	37	X	65427076	65427076	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:65427076G>T	ENST00000519389.1	+	14	2672	c.2493G>T	c.(2491-2493)ctG>ctT	p.L831L	HEPH_ENST00000419594.1_Silent_p.L588L|HEPH_ENST00000441993.2_Silent_p.L780L|HEPH_ENST00000374727.3_Silent_p.L780L|HEPH_ENST00000336279.5_Silent_p.L510L|HEPH_ENST00000343002.2_Silent_p.L777L			Q9BQS7	HEPH_HUMAN	hephaestin	777	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGGGCTCCTGGGTTCCAGAT	0.463000													8	35					1.76689e-08	2.52087e-08	0.058154	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255757	15255757	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:15255757C>A	ENST00000378116.4	-	8	1836	c.1830G>T	c.(1828-1830)gaG>gaT	p.E610D		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	610						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTCTTTCTATCTCAAGCTGCT	0.592000													12	26					0.000308642	0.000354109	0.132662	1	0
DCHS1	8642	broad.mit.edu	37	11	6646566	6646566	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:6646566G>A	ENST00000299441.3	-	19	7420	c.7009C>T	c.(7009-7011)Ctg>Ttg	p.L2337L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2337	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAAGTCCAGGGGCCCCGTG	0.617000													10	39					0	0	0.058154	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614427	108614427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:108614427C>A	ENST00000264047.2	+	5	858	c.582C>A	c.(580-582)tgC>tgA	p.C194*	SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.C194*|SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.C89*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	194					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGCTCTTTTGCATTTTTGTAG	0.413000													37	150					8.16277e-20	1.54835e-19	0.092188	1	0
EDIL3	10085	broad.mit.edu	37	5	83362384	83362384	+	Silent	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:83362384G>C	ENST00000296591.5	-	7	1111	c.693C>G	c.(691-693)acC>acG	p.T231T	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.T221T	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	231	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGGCTCCTTGGGTAATCACAC	0.368000													9	41					0	0	0.047766	0	0
CPED1	79974	broad.mit.edu	37	7	120739999	120739999	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:120739999G>T	ENST00000310396.5	+	7	1236	c.769G>T	c.(769-771)Gct>Tct	p.A257S	CPED1_ENST00000423795.1_Missense_Mutation_p.A37S|CPED1_ENST00000450913.2_Missense_Mutation_p.A257S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GACAGTCCTTGCTCCACATGA	0.373000													9	42					3.09899e-07	4.13615e-07	0.047766	1	0
SLIT2	9353	broad.mit.edu	37	4	20530698	20530698	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:20530698A>T	ENST00000504154.1	+	16	1841	c.1589A>T	c.(1588-1590)cAc>cTc	p.H530L	SLIT2_ENST00000503837.1_Missense_Mutation_p.H526L|SLIT2_ENST00000503823.1_Missense_Mutation_p.H522L|SLIT2_ENST00000273739.5_Missense_Mutation_p.H534L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	530	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCCCGGAGCACATTCCCCAG	0.453000													18	66					0	0	0.043863	0	0
COL4A1	1282	broad.mit.edu	37	13	110850855	110850855	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:110850855G>T	ENST00000375820.4	-	21	1365	c.1244C>A	c.(1243-1245)cCt>cAt	p.P415H	COL4A1_ENST00000543140.1_Missense_Mutation_p.P415H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	415	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAACCAGGAGGACCCGGGAG	0.597000													3	15					0.004672	0.00509533	0.115264	1	0
OR2M5	127059	broad.mit.edu	37	1	248308513	248308513	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:248308513C>T	ENST00000366476.1	+	1	64	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CAATCACAGCCCCACCCACAC	0.473000													85	212					0	0	0.139131	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629090	20629090	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:20629090T>C	ENST00000525748.1	+	5	1150	c.877T>C	c.(877-879)Tat>Cat	p.Y293H		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	293					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTATTTGCTATACACTTTT	0.443000													37	93					0	0	0.092188	0	0
CYP46A1	10858	broad.mit.edu	37	14	100166397	100166397	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:100166397G>T	ENST00000261835.3	+	5	506	c.402G>T	c.(400-402)tgG>tgT	p.W134C	CYP46A1_ENST00000423126.2_Missense_Mutation_p.W37C	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	134					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ATGAGCGCTGGCACAAGCAGC	0.637000													11	37					9.70103e-10	1.46623e-09	0.069234	1	0
PLCB1	23236	broad.mit.edu	37	20	8769323	8769323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:8769323G>T	ENST00000378641.3	+	29	3707	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	PLCB1_ENST00000338037.6_Nonsense_Mutation_p.E1078*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E1078*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1078					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGAGGCAGGAGAAGATAAC	0.348000													11	33					7.03913e-09	1.02868e-08	0.093190	1	0
LRP1B	53353	broad.mit.edu	37	2	141283517	141283517	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:141283517G>T	ENST00000389484.3	-	49	8893	c.7922C>A	c.(7921-7923)aCa>aAa	p.T2641K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2641	LDL-receptor class A 14.				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)		TATGAACCCTGTGGTTTTCAC	0.383000										TSP Lung(27;0.18)			13	71					6.31663e-08	8.72987e-08	0.132662	1	0
ANK2	287	broad.mit.edu	37	4	114238882	114238882	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:114238882G>T	ENST00000357077.4	+	25	2766	c.2713G>T	c.(2713-2715)Gac>Tac	p.D905Y	ANK2_ENST00000264366.6_Missense_Mutation_p.D905Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D114Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D884Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D905Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	905					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCAGTTCCGACAGGTCTCA	0.537000													13	57					4.93089e-13	8.16062e-13	0.119110	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374199	95374199	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:95374199C>A	ENST00000494840.1	-	0	1662					NR_077228.1																						ATCTCTGGGACGTTCATGCAC	0.438000													4	16					0.000602214	0.000687355	0.014758	1	0
SLK	9748	broad.mit.edu	37	10	105767963	105767963	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:105767963T>G	ENST00000369755.3	+	12	3178	c.2633T>G	c.(2632-2634)aTt>aGt	p.I878S	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.I878S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	878	UVR.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACCAGGAAATTGAGAATCTA	0.373000													42	118					0	0	0.124865	0	0
TULP1	7287	broad.mit.edu	37	6	35477040	35477040	+	Silent	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:35477040A>T	ENST00000229771.6	-	8	847	c.768T>A	c.(766-768)gcT>gcA	p.A256A	TULP1_ENST00000322263.4_Silent_p.A203A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	256					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTATCACCGTAGCTGCCTCCT	0.572000													47	178					0	0	0.139131	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616393	77616393	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:77616393A>G	ENST00000521891.2	+	2	518	c.70A>G	c.(70-72)Acg>Gcg	p.T24A	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T24A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T24A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T24A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	24						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)			GCTATGTGGAACGACACAACT	0.488000										HNSCC(33;0.089)			3	44					0	0	0.029380	0	0
CLDN14	23562	broad.mit.edu	37	21	37833374	37833374	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:37833374G>T	ENST00000399137.1	-	3	1486	c.620C>A	c.(619-621)aCc>aAc	p.T207N	CLDN14_ENST00000399139.1_Missense_Mutation_p.T207N|CLDN14_ENST00000342108.2_Missense_Mutation_p.T207N|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.T207N|CLDN14_ENST00000399135.1_Missense_Mutation_p.T207N	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	207					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGCAGGTGCGGTGTTTGCAGT	0.647000													3	8					0.00909568	0.00971184	0.009096	1	0
CASC4	113201	broad.mit.edu	37	15	44620906	44620906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:44620906G>T	ENST00000299957.6	+	3	705	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	CASC4_ENST00000360824.3_Nonsense_Mutation_p.E136*|CASC4_ENST00000345795.2_Nonsense_Mutation_p.E136*	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	136						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GCTTCGTCAGGAATTTCTTCG	0.398000													5	25					0.00116845	0.00130661	0.021553	1	0
ROPN1	54763	broad.mit.edu	37	3	123699418	123699418	+	Translation_Start_Site	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:123699418C>T	ENST00000184183.4	-	0	251				ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000495093.1_De_novo_Start_InFrame|ROPN1_ENST00000484329.1_De_novo_Start_InFrame|ROPN1_ENST00000459660.1_Intron|ROPN1_ENST00000479867.1_Intron	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1						signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		caggaggtcacccagcctctg	0.428000													3	10					0	0	0.009096	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458919	19458919	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:19458919G>T	ENST00000270570.4	+	8	741	c.655G>T	c.(655-657)Gca>Tca	p.A219S	SLC47A1_ENST00000542886.1_Missense_Mutation_p.G186V|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.A196S|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A219S|SLC47A1_ENST00000395585.1_Missense_Mutation_p.A219S	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	219						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CTCTGCACTGGCAAACTTGAT	0.532000													11	41					0.000978159	0.00110691	0.080935	1	0
CUTC	51076	broad.mit.edu	37	10	101514311	101514311	+	Silent	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:101514311A>T	ENST00000370476.5	+	8	756	c.627A>T	c.(625-627)ctA>ctT	p.L209L		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	209					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ACAGAAATCTACAAAGGATCC	0.368000													65	166					0	0	0.139131	0	0
ZFAT	57623	broad.mit.edu	37	8	135533236	135533236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:135533236T>A	ENST00000520727.1	-	14	3387	c.3088A>T	c.(3088-3090)Aag>Tag	p.K1030*	ZFAT_ENST00000520356.1_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.K980*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.K1042*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACAGGACACTTCAAACCACCT	0.408000													9	121					0	0	0.080935	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70415730	70415730	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:70415730G>T	ENST00000393640.4	-	6	3022	c.915C>A	c.(913-915)ggC>ggA	p.G305G	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.G305G			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	305					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GGTGCCAGTTGCCCCGGCTGT	0.692000													5	28					0.0293803	0.030775	0.029380	1	0
COL19A1	1310	broad.mit.edu	37	6	70916851	70916851	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:70916851C>A	ENST00000322773.4	+	51	3404	c.3301_splice	c.e51-1	p.A1101_splice	COL19A1_ENST00000393344.1_Splice_Site_p.A723_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1101	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGTCGTTAGCTCTGGGTTTG	0.512000													15	55					1.52009e-12	2.49084e-12	0.132662	1	0
C6orf15	29113	broad.mit.edu	37	6	31080013	31080013	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:31080013C>A	ENST00000259870.3	-	2	126	c.123G>T	c.(121-123)ggG>ggT	p.G41G		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	41										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCAAGTTGGTCCCCAAGTTTT	0.567000													28	84					1.88708e-17	3.47014e-17	0.134883	1	0
DST	667	broad.mit.edu	37	6	56418432	56418432	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:56418432T>C	ENST00000370754.5	-	61	15064	c.15065A>G	c.(15064-15066)cAg>cGg	p.Q5022R	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q4518R|DST_ENST00000421834.2_Missense_Mutation_p.Q2756R|DST_ENST00000361203.3_Missense_Mutation_p.Q4842R|DST_ENST00000370769.4_Missense_Mutation_p.Q4844R|DST_ENST00000244364.6_Missense_Mutation_p.Q2430R|DST_ENST00000370788.2_Missense_Mutation_p.Q2756R			Q03001	DYST_HUMAN	dystonin	4842					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACAGGCCGACTGAAGGTGCTG	0.328000													7	24					0	0	0.029380	0	0
UNC13A	23025	broad.mit.edu	37	19	17728601	17728601	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:17728601C>A	ENST00000428389.2	-	42	4731	c.4732G>T	c.(4732-4734)Gac>Tac	p.D1578Y	UNC13A_ENST00000252773.7_Missense_Mutation_p.D1490Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1490Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1465Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1463Y|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1490Y			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1490	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GATTGCAGGTCCGGGCTCTTC	0.597000													10	24					1.58986e-06	2.05967e-06	0.069234	1	0
MCHR2	84539	broad.mit.edu	37	6	100368931	100368931	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:100368931G>T	ENST00000281806.2	-	6	1222	c.908C>A	c.(907-909)cCt>cAt	p.P303H	MCHR2_ENST00000445970.1_Missense_Mutation_p.P303H|MCHR2_ENST00000369212.1_Missense_Mutation_p.P303H	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTAGAGAAAAGGGTTAATGCT	0.453000													33	75					1.26612e-14	2.19992e-14	0.059317	1	0
KCNU1	157855	broad.mit.edu	37	8	36780061	36780061	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:36780061C>T	ENST00000399881.3	+	24	2687	c.2650C>T	c.(2650-2652)Ctc>Ttc	p.L884F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	884						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAAGGGTCCCTCCAAGAAAC	0.458000													15	41					0	0	0.146539	0	0
DNAH12	201625	broad.mit.edu	37	3	57494913	57494913	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:57494913C>A	ENST00000351747.2	-	6	676	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	DNAH12_ENST00000311202.6_Missense_Mutation_p.V166F|DNAH12_ENST00000389536.4_Missense_Mutation_p.V166F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	166	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AGCGATTTAACTGGTGGTTTC	0.308000													10	43					1.08611e-07	1.48862e-07	0.080935	1	0
KCNB1	3745	broad.mit.edu	37	20	47991190	47991190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:47991190G>A	ENST00000371741.4	-	2	1073	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	303					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R303*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGAGAATTCGCATGATGCGG	0.532000													6	55					0	0	0.029380	0	0
GRM8	2918	broad.mit.edu	37	7	126544739	126544739	+	Splice_Site	SNP	T	T	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:126544739T>G	ENST00000339582.2	-	4	1536		c.e4-2		GRM8_ENST00000480995.1_Splice_Site|GRM8_ENST00000405249.1_Splice_Site|GRM8_ENST00000358373.3_Splice_Site|GRM8_ENST00000444921.2_Splice_Site			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAACACCACCTATTTAAAAAA	0.358000										HNSCC(24;0.065)			10	32					0	0	0.080935	0	0
CNTN5	53942	broad.mit.edu	37	11	100095485	100095485	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:100095485G>T	ENST00000524871.1	+	16	2236	c.1946G>T	c.(1945-1947)gGc>gTc	p.G649V	CNTN5_ENST00000528682.1_Missense_Mutation_p.G649V|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.G649V|CNTN5_ENST00000418526.2_Missense_Mutation_p.G575V|CNTN5_ENST00000527185.1_Missense_Mutation_p.G649V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	649	Ig-like C2-type 6.				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)		GGGAGATATGGCTGCAGGGTA	0.453000													15	47					3.41278e-10	5.24191e-10	0.033300	1	0
NLRP4	147945	broad.mit.edu	37	19	56370504	56370504	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:56370504A>C	ENST00000301295.6	+	3	2167	c.1745A>C	c.(1744-1746)gAc>gCc	p.D582A	NLRP4_ENST00000346986.5_Missense_Mutation_p.D582A|NLRP4_ENST00000587891.1_Missense_Mutation_p.D507A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	582							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CATATTATTGACAACGTGGAC	0.413000													10	30					0	0	0.080935	0	0
MLLT3	4300	broad.mit.edu	37	9	20413948	20413948	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:20413948T>C	ENST00000380338.4	-	5	1182	c.896A>G	c.(895-897)aAa>aGa	p.K299R	MLLT3_ENST00000429426.2_Missense_Mutation_p.K296R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GCTACTCTTTTTCCTTTTTTT	0.388000			T	MLL	ALL								25	65					0	0	0.108266	0	0
BAGE2	85319	broad.mit.edu	37	21	11039062	11039062	+	RNA	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:11039062A>G	ENST00000470054.1	-	0	1141									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAATCCAGTAGAAAGTTCAG	0.398000													11	234					0	0	0.105934	0	0
CUBN	8029	broad.mit.edu	37	10	17024634	17024634	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:17024634T>A	ENST00000377833.4	-	31	4609	c.4544A>T	c.(4543-4545)cAg>cTg	p.Q1515L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1515	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTGGGAGCCTGGAAAATCCC	0.433000													9	53					0	0	0.047766	0	0
GFRA3	2676	broad.mit.edu	37	5	137589488	137589488	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:137589488G>A	ENST00000274721.3	-	6	1237	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	GFRA3_ENST00000378362.3_Silent_p.L300L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	331					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AACCCTTCCAGCATTTCACAC	0.572000													7	15					0	0	0.069234	0	0
CORO6	84940	broad.mit.edu	37	17	27943986	27943986	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:27943986G>T	ENST00000345068.5	-	7	1041	c.828C>A	c.(826-828)ccC>ccA	p.P276P	CORO6_ENST00000580212.1_Silent_p.P236P|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Silent_p.P276P|CORO6_ENST00000456796.3_Silent_p.P42P|CORO6_ENST00000445145.2_Silent_p.P276P|CORO6_ENST00000388767.3_Silent_p.P276P			Q6QEF8	CORO6_HUMAN	coronin 6	276					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGCTGGAGTCGGGATCGTAAA	0.627000													10	35					5.16669e-11	8.12434e-11	0.080935	1	0
PSPH	5723	broad.mit.edu	37	7	56085062	56085062	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:56085062T>A	ENST00000395471.3	-	6	1091	c.286A>T	c.(286-288)Agt>Tgt	p.S96C	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.S96C			P78330	SERB_HUMAN	phosphoserine phosphatase	96					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGGCGACTTACCAGCTCC	0.363000													3	14					0	0	0.021553	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366585	40366585	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:40366585G>C	ENST00000406785.1	-	7	2582	c.2393C>G	c.(2392-2394)tCt>tGt	p.S798C	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S829C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S798C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S826C|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S829C|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S798C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S834C|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S834C|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S798C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S798C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	834					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCAGTCACAGAATCTTTCAG	0.473000													16	54					0	0	0.132662	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063605	58063605	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:58063605A>T	ENST00000339762.6	-	1	10	c.11T>A	c.(10-12)cTa>cAa	p.L4Q	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAAGAGTAGTTCATCCAT	0.463000													9	12					0	0	0.069234	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163806	32163806	+	RNA	SNP	G	G	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:32163806G>C	ENST00000564145.1	-	0	28																											TGTGGGTGATGGAGCGGAGCT	0.532000													10	43					0	0	0.093190	0	0
ITIH4	3700	broad.mit.edu	37	3	52854649	52854649	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:52854649C>A	ENST00000266041.4	-	13	1928	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ITIH4_ENST00000434759.3_Missense_Mutation_p.G523V|ITIH4_ENST00000346281.5_Missense_Mutation_p.G611V|ITIH4_ENST00000406595.1_Missense_Mutation_p.G611V|ITIH4_ENST00000485816.1_Missense_Mutation_p.G611V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	611					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACACCCACCGCCTTCCATGGG	0.552000											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0.00116845	0.00130661	0.021553	1	0
GLG1	2734	broad.mit.edu	37	16	74530506	74530506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:74530506C>A	ENST00000422840.2	-	5	810	c.811G>T	c.(811-813)Gag>Tag	p.E271*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.E271*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.E260*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	271						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						AGGCCTTTCTCCAAGCATGAT	0.403000													15	102					9.16793e-09	1.32805e-08	0.033300	1	0
SARS	6301	broad.mit.edu	37	1	109766604	109766604	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:109766604A>T	ENST00000369923.4	+	2	152	c.141A>T	c.(139-141)agA>agT	p.R47S	SARS_ENST00000234677.2_Missense_Mutation_p.R47S			P49591	SYSC_HUMAN	seryl-tRNA synthetase	47					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCCTAGGTAGATTTCGGGCAG	0.383000													19	106					0	0	0.076483	0	0
OLFM3	118427	broad.mit.edu	37	1	102270053	102270053	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:102270053C>A	ENST00000370103.4	-	6	1331	c.1118G>T	c.(1117-1119)aGt>aTt	p.S373I	OLFM3_ENST00000338858.5_Missense_Mutation_p.S393I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	393	Olfactomedin-like.					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)		TTCCCCTGCACTTCTCTTGGG	0.463000													19	78					1.01871e-10	1.57567e-10	0.049695	1	0
MYH15	22989	broad.mit.edu	37	3	108112926	108112926	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:108112926C>A	ENST00000273353.3	-	37	5327	c.5271G>T	c.(5269-5271)gtG>gtT	p.V1757V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1757						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GACACTCCTGCACCACCTCTT	0.512000													11	87					1.05317e-09	1.58815e-09	0.119110	1	0
DNAH11	8701	broad.mit.edu	37	7	21678642	21678642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:21678642G>T	ENST00000328843.6	+	28	4949	c.4918G>T	c.(4918-4920)Gat>Tat	p.D1640Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.D1635Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1640	Stem (By similarity).		D -> G (in dbSNP:rs17144835).		microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTCTGCTGATTTACTTGA	0.393000									Kartagener syndrome				24	87					4.87955e-14	8.24047e-14	0.108266	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44016839	44016839	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:44016839C>G	ENST00000398823.2	+	5	374	c.299C>G	c.(298-300)cCc>cGc	p.P100R	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.P100R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.P100R|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000260605.8_Missense_Mutation_p.P100R			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	100						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCAGCATACCCATCACAGGT	0.423000													14	59					0	0	0.049695	0	0
ALPK1	80216	broad.mit.edu	37	4	113345153	113345153	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:113345153G>T	ENST00000458497.1	+	6	808	c.529G>T	c.(529-531)Gca>Tca	p.A177S	ALPK1_ENST00000177648.9_Missense_Mutation_p.A177S|ALPK1_ENST00000504176.2_Missense_Mutation_p.A99S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	177							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAACAATGGAGCAACGGGTGA	0.378000													15	84					0.00121646	0.00135801	0.049695	1	0
LPHN3	23284	broad.mit.edu	37	4	62598825	62598825	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:62598825C>A	ENST00000512091.1	+	7	1495	c.748C>A	c.(748-750)Cat>Aat	p.H250N	LPHN3_ENST00000509896.1_Missense_Mutation_p.H318N|LPHN3_ENST00000507164.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514157.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506746.1_Missense_Mutation_p.H318N|LPHN3_ENST00000508946.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506700.1_Missense_Mutation_p.H250N|LPHN3_ENST00000504896.1_Missense_Mutation_p.H250N|LPHN3_ENST00000511324.1_Missense_Mutation_p.H318N|LPHN3_ENST00000507625.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514996.1_Missense_Mutation_p.H250N|LPHN3_ENST00000508693.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514591.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506720.1_Missense_Mutation_p.H318N|LPHN3_ENST00000545650.1_Missense_Mutation_p.H250N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	250	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCCAATTACCATGATACCTC	0.438000													9	22					3.09899e-07	4.13615e-07	0.047766	1	0
PLS3	5358	broad.mit.edu	37	X	114879350	114879350	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:114879350G>T	ENST00000420625.2	+	11	1327	c.1193G>T	c.(1192-1194)cGt>cTt	p.R398L	PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.R353L|PLS3_ENST00000355899.3_Missense_Mutation_p.R398L|PLS3_ENST00000537301.1_Missense_Mutation_p.R385L|PLS3_ENST00000289290.3_Missense_Mutation_p.R362L	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	398	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GGAGAAACTCGTGAAGAAAGA	0.348000													17	30					2.94398e-08	4.16435e-08	0.043863	1	0
NLRP4	147945	broad.mit.edu	37	19	56369278	56369278	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:56369278G>T	ENST00000301295.6	+	3	941	c.519G>T	c.(517-519)tcG>tcT	p.S173S	NLRP4_ENST00000346986.5_Silent_p.S173S|NLRP4_ENST00000587891.1_Silent_p.S98S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	173	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGCCTGGTCGGACAACAAGA	0.493000													15	46					2.31682e-05	2.835e-05	0.132662	1	0
CDH10	1008	broad.mit.edu	37	5	24491817	24491817	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:24491817G>A	ENST00000264463.4	-	11	2251	c.1744C>T	c.(1744-1746)Ctg>Ttg	p.L582L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGAATGGTCAGTGTGCCTGTG	0.498000										HNSCC(23;0.051)			9	59					0	0	0.058154	0	0
MYH4	4622	broad.mit.edu	37	17	10352228	10352228	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:10352228T>A	ENST00000255381.2	-	31	4428	c.4318A>T	c.(4318-4320)Aat>Tat	p.N1440Y	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1440					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						CAGGCAGCATTAGATCGTTCC	0.443000													7	26					0	0	0.038147	0	0
CTNND2	1501	broad.mit.edu	37	5	11199628	11199628	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:11199628C>A	ENST00000304623.8	-	11	2096	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G203V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G636V|CTNND2_ENST00000511377.1_Missense_Mutation_p.G545V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G299V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	636					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGGATGCCACCACAGTTTTT	0.473000													39	233					3.77016e-25	7.40607e-25	0.131918	1	0
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G	rs146739148	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:148594439A>G	ENST00000442702.2	+	21	2879	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000369187.3_Silent_p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463000													4	393					0	0	0.038147	0	0
GNB1	2782	broad.mit.edu	37	1	1721833	1721833	+	Splice_Site	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:1721833C>G	ENST00000378609.4	-	9	1031		c.e9+1			NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1						cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CCCAGACTCACGCAAATGGCA	0.517000													3	17					0	0	0.014758	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33630991	33630991	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:33630991G>T	ENST00000504830.1	-	13	2251	c.1916C>A	c.(1915-1917)cCc>cAc	p.P639H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	639	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCATCTATGGGTCGGCAGTA	0.473000										HNSCC(64;0.19)			54	89					3.00063e-23	5.85963e-23	0.139131	1	0
RGPD4	285190	broad.mit.edu	37	2	108487652	108487652	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:108487652G>T	ENST00000408999.3	+	20	3269	c.3192G>T	c.(3190-3192)ggG>ggT	p.G1064G	RGPD4_ENST00000354986.4_Silent_p.G1064G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1064	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTCACAGGGGGTAAAACTAT	0.393000													58	226					4.49795e-14	7.65461e-14	0.139131	1	0
A4GNT	51146	broad.mit.edu	37	3	137850093	137850093	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:137850093C>T	ENST00000236709.3	-	2	207	c.6G>A	c.(4-6)cgG>cgA	p.R2R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGAGCTCCTTCCGCATGTCCT	0.473000													25	67					0	0	0.116897	0	0
ALPK1	80216	broad.mit.edu	37	4	113351753	113351753	+	Silent	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:113351753G>A	ENST00000458497.1	+	11	1329	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	ALPK1_ENST00000177648.9_Silent_p.E350E|ALPK1_ENST00000504176.2_Silent_p.E272E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	350							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAAAACAGGAGCTTCACAGCT	0.502000													7	40					0	0	0.029380	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530959	140530959	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:140530959G>T	ENST00000231136.1	+	1	1121	c.1121G>T	c.(1120-1122)gGa>gTa	p.G374V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G238V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGACTCTGGACATAACCAA	0.458000													32	70					8.4185e-14	1.41448e-13	0.050027	1	0
MKRN3	7681	broad.mit.edu	37	15	23811385	23811385	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:23811385G>T	ENST00000314520.3	+	1	932	c.456G>T	c.(454-456)ccG>ccT	p.P152P	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	152						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGAGCCCCCGACTCAGGAAG	0.637000													4	3					0.00909568	0.00971184	0.009096	1	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537689	75537689	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:75537689C>A	ENST00000524913.1	+	2	902	c.413C>A	c.(412-414)gCg>gAg	p.A138E	ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.A138E|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.A138E	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	138																	GTGGACCGGGCGTTCCCATTG	0.522000													63	216					2.32099e-22	4.46655e-22	0.139131	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581476	140581476	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:140581476C>T	ENST00000354757.3	+	1	2129	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A345V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.687000													24	26					0	0	0.064281	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012669	153012669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:153012669G>A	ENST00000368757.1	-	2	434	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q52*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q52*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q52*			P22532	SPR2D_HUMAN	small proline-rich protein 2D	52					keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGATATTTCTGCTGGCACTGC	0.582000													76	141					0	0	0.139131	0	0
FCRL5	83416	broad.mit.edu	37	1	157512672	157512672	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:157512672T>A	ENST00000361835.3	-	6	1257	c.1100A>T	c.(1099-1101)aAg>aTg	p.K367M	FCRL5_ENST00000368190.3_Missense_Mutation_p.K367M|FCRL5_ENST00000368191.3_Missense_Mutation_p.K282M|FCRL5_ENST00000368189.3_Missense_Mutation_p.K367M|FCRL5_ENST00000356953.4_Missense_Mutation_p.K367M	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	367	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCACAGCCTTACTGGGCTT	0.562000													25	129					0	0	0.144211	0	0
RBM47	54502	broad.mit.edu	37	4	40440354	40440354	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:40440354C>G	ENST00000319592.4	-	4	1266	c.557G>C	c.(556-558)aGc>aCc	p.S186T	RBM47_ENST00000295971.7_Missense_Mutation_p.S186T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.S186T|RBM47_ENST00000514014.1_Missense_Mutation_p.S148T|RBM47_ENST00000381793.2_Missense_Mutation_p.S186T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	186	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTCGGCCGCGCTGGCGTAGAC	0.637000													8	26					0	0	0.069234	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717205	222717205	+	Silent	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:222717205C>G	ENST00000343410.6	-	2	706	c.648G>C	c.(646-648)ctG>ctC	p.L216L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	216					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGGGTTCCTCAGCCCGTTGG	0.622000													19	25					0	0	0.055883	0	0
OR2S2	56656	broad.mit.edu	37	9	35957691	35957691	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:35957691C>A	ENST00000341959.2	-	1	460	c.405G>T	c.(403-405)gtG>gtT	p.V135V		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTCATGATCACGGAGTACC	0.557000													13	65					1.5739e-10	2.42872e-10	0.146539	1	0
KRT1	3848	broad.mit.edu	37	12	53071142	53071142	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:53071142G>T	ENST00000252244.3	-	5	1144	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	362	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGCTCTTCTGGGCTATATCCT	0.507000													34	32					9.04072e-19	1.69067e-18	0.059317	1	0
PIAS2	9063	broad.mit.edu	37	18	44416466	44416466	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:44416466C>A	ENST00000585916.1	-	9	1055	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	PIAS2_ENST00000324794.7_Missense_Mutation_p.R352S|PIAS2_ENST00000545673.1_Missense_Mutation_p.R62S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	352					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGATTGTCAGCCTCATTTTTC	0.433000													18	87					1.01871e-10	1.57567e-10	0.049695	1	0
GNAI2	2771	broad.mit.edu	37	3	50289130	50289130	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:50289130G>T	ENST00000266027.5	+	1	25	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S	GNAI2_ENST00000451956.1_Intron|GNAI2_ENST00000536647.1_Intron|GNAI2_ENST00000440628.1_Intron|GNAI2_ENST00000491100.1_Intron|GNAI2_ENST00000313601.6_Intron|GNAI2_ENST00000422163.1_Intron			P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	0					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCATCTTCCTGCCAGCTCTGC	0.587000													3	7					0.115264	0.119226	0.115264	1	0
SLTM	79811	broad.mit.edu	37	15	59179173	59179173	+	Splice_Site	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:59179173C>A	ENST00000380516.2	-	19	2923		c.e19+1		SLTM_ENST00000536328.1_Splice_Site	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGCACTTACCTGTGATCCA	0.542000													11	28					1.5842e-08	2.28983e-08	0.105934	1	0
RASSF9	9182	broad.mit.edu	37	12	86198702	86198702	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:86198702C>A	ENST00000361228.3	-	2	1454	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	362					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTGAATTCCTTGGCCAGGA	0.408000													32	161					8.88839e-20	1.68118e-19	0.045705	1	0
OR8J1	219477	broad.mit.edu	37	11	56127956	56127956	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:56127956C>A	ENST00000303039.3	+	1	266	c.234C>A	c.(232-234)gcC>gcA	p.A78A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A78>?(1)		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)					CTGTCATTGCCCCTAAAATGC	0.418000													20	86					1.9806e-07	2.69231e-07	0.069288	1	0
AGAP2	116986	broad.mit.edu	37	12	58126272	58126272	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:58126272G>T	ENST00000257897.3	-	7	785	c.700C>A	c.(700-702)Cgc>Agc	p.R234S	AGAP2_ENST00000547588.1_Missense_Mutation_p.R570S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	570					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCTGCTTGCGCAAGGTCACC	0.597000													3	3					0.00024832	0.0002884	0.009096	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215843	140215843	+	Silent	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:140215843G>T	ENST00000525929.1	+	1	1875	c.1875G>T	c.(1873-1875)ggG>ggT	p.G625G	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.G625G|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGTGGGGCTGTACACTG	0.637000													15	25					2.4624e-09	3.67141e-09	0.049695	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98469658	98469658	+	Silent	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:98469658C>A	ENST00000339364.5	-	2	215	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	32						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCCGACTGGACAGGAACAGGG	0.612000													6	33					3.59834e-05	4.35484e-05	0.021553	1	0
SOX6	55553	broad.mit.edu	37	11	16340026	16340026	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:16340026C>A	ENST00000352083.6	-	3	488	c.411G>T	c.(409-411)aaG>aaT	p.K137N	SOX6_ENST00000528252.1_Missense_Mutation_p.K137N|SOX6_ENST00000527619.1_Missense_Mutation_p.K140N|SOX6_ENST00000396356.3_Missense_Mutation_p.K137N|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.K137N|SOX6_ENST00000316399.6_Missense_Mutation_p.K137N			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	137					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTCAAGCTTCTTCTGTTTCA	0.468000													32	72					6.84511e-11	1.06874e-10	0.059317	1	0
GPR22	2845	broad.mit.edu	37	7	107115574	107115574	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:107115574T>A	ENST00000304402.4	+	3	2412	c.1069T>A	c.(1069-1071)Tat>Aat	p.Y357N	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	357						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGTCATGGCTTATGGAACAAC	0.313000													12	39					0	0	0.105934	0	0
TPO	7173	broad.mit.edu	37	2	1488506	1488506	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:1488506G>T	ENST00000345913.4	+	9	1568	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C	TPO_ENST00000349624.3_Missense_Mutation_p.G320C|TPO_ENST00000382198.1_Missense_Mutation_p.G320C|TPO_ENST00000337415.3_Missense_Mutation_p.G493C|TPO_ENST00000346956.3_Missense_Mutation_p.G493C|TPO_ENST00000382201.3_Missense_Mutation_p.G493C|TPO_ENST00000329066.4_Missense_Mutation_p.G493C|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	493			G -> S (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCGCTTCGGCCATGCCAC	0.652000													5	14					5.68852e-11	8.90261e-11	0.047766	1	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143677	61143677	+	RNA	SNP	C	C	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:61143677C>A	ENST00000475015.1	-	0	661				C20orf166-AS1_ENST00000412495.1_RNA																							CCCGGCAATGCAGCCCCCTCC	0.677000													3	8					0.115264	0.119226	0.115264	1	0
OR2M3	127062	broad.mit.edu	37	1	248367276	248367276	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:248367276A>G	ENST00000456743.1	+	1	945	c.907A>G	c.(907-909)Aag>Gag	p.K303E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCATTCATGAAGATCTTAGG	0.423000													74	142					0	0	0.139131	0	0
SETBP1	26040	broad.mit.edu	37	18	42531910	42531910	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:42531910A>T	ENST00000282030.5	+	4	2901	c.2605A>T	c.(2605-2607)Agc>Tgc	p.S869C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	869						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCAGCGACAGCGGCATTGG	0.562000									Schinzel-Giedion syndrome				13	42					0	0	0.105934	0	0
CDC20B	166979	broad.mit.edu	37	5	54420757	54420757	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:54420757C>G	ENST00000296733.1	-	9	1263	c.1089G>C	c.(1087-1089)tgG>tgC	p.W363C	CDC20B_ENST00000322374.6_Missense_Mutation_p.W363C|CDC20B_ENST00000381375.2_Missense_Mutation_p.W363C|CDC20B_ENST00000334206.5_3'UTR	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	363										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CATCCGGTGACCACTTCAGAG	0.572000													37	82					0	0	0.092188	0	0
POLE	5426	broad.mit.edu	37	12	133250242	133250242	+	Silent	SNP	C	C	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:133250242C>T	ENST00000320574.5	-	13	1321	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	POLE_ENST00000535270.1_Silent_p.A399A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	426					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTTGGCGGCCGCCTTGAGAT	0.587000								DNA polymerases (catalytic subunits)					29	138					0	0	0.131918	0	0
RP11-154H17.1	0	broad.mit.edu	37	1	5653436	5653437	+	RNA	DEL	TC	TC	-	rs112755593		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:5653436_5653437delTC	ENST00000413887.1	-	0	155																											AAGGAGGGATTCTCTCTCTCTC	0.584													3	3	---	---	---	---					
LOC284632	284632	broad.mit.edu	37	1	24529628	24529644	+	RNA	DEL	CCCTGCTGCCCACACAC	CCCTGCTGCCCACACAC	-	rs141439997	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:24529628_24529644delCCCTGCTGCCCACACAC	ENST00000439059.2	+	0	288					NR_027087.2																						GCCCACACATCCCTGCTGCCCACACACCCCTGCTGCC	0.618													2	4	---	---	---	---					
LINC00466	199899	broad.mit.edu	37	1	63728558	63728558	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:63728558delT	ENST00000455304.2	-	0	191																											gtcatatgcctgtagtcacag	0.498													2	4	---	---	---	---					
MGC27382	149047	broad.mit.edu	37	1	78744312	78744312	+	RNA	DEL	T	T	-	rs11336496		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:78744312delT	ENST00000436742.1	+	0	1342																											acccaggATCttttttttttt	0.498													2	4	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99591854	99591854	+	RNA	DEL	A	A	-	rs148649607		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:99591854delA	ENST00000425113.1	+	0	370					NR_033940.1																						gtgtagtttcaattttctgca	0.313													3	3	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142640886	142640886	+	RNA	DEL	T	T	-	rs111783433		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:142640886delT	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							tttgaaataattttttatagg	0.383													5	2	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													7	183	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)gcfs	p.S277fs	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													10	328	---	---	---	---					
RP1-45C12.1	0	broad.mit.edu	37	1	171201840	171201840	+	RNA	DEL	T	T	-	rs58670836		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:171201840delT	ENST00000455124.1	-	0	415																											ATGCATTCCATTTTTTTTTTT	0.323													3	3	---	---	---	---					
RP1-35C21.2	0	broad.mit.edu	37	1	177415067	177415068	+	RNA	INS	-	-	AA	rs71567161	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:177415067_177415068insAA	ENST00000438575.1	-	0	296																											AAAGAAAAAAGAAAAAAAATCA	0.416													7	4	---	---	---	---					
RP11-373J16.1	0	broad.mit.edu	37	1	188878206	188878206	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:188878206delA	ENST00000445072.1	+	0	239																											AATGTAACTGAACACAGAACA	0.338													2	4	---	---	---	---					
BRINP3	339479	broad.mit.edu	37	1	190195351	190195352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:190195351_190195352insT	ENST00000367462.3	-	6	1052_1053	c.821_822insA	c.(820-822)agafs	p.R274fs	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Ins_p.R172fs	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		274						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTCATTTTCCTTGCAGATAAA	0.450													13	76	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													7	106	---	---	---	---					
PROX1-AS1	100505832	broad.mit.edu	37	1	214024139	214024140	+	RNA	INS	-	-	T	rs147903433		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:214024139_214024140insT	ENST00000433082.2	-	0	401				PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601744.1_RNA																							GCTTACTTGGCTTttttttttt	0.337													3	6	---	---	---	---					
QRSL1P2	100422330	broad.mit.edu	37	1	222435351	222435352	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:222435351_222435352insT	ENST00000416510.1	-	0	167																											ATTGGCAACCCTTGGTTTGAAA	0.416													9	29	---	---	---	---					
CTD-2090I13.1	0	broad.mit.edu	37	1	227583317	227583317	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr1:227583317delT	ENST00000445817.1	+	0	210																											TTTGTGAAGGTTAGTGACTAA	0.423													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12439942	12439943	+	RNA	INS	-	-	G	rs13028797		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:12439942_12439943insG	ENST00000412294.1	+	0	315																											ttttgttttttttttttttttt	0.401													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12466620	12466621	+	RNA	DEL	CA	CA	-	rs72236222		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:12466620_12466621delCA	ENST00000412294.1	+	0	412																											aacacctgctcacacacacaca	0.480													2	4	---	---	---	---					
AC008069.1	0	broad.mit.edu	37	2	16911682	16911682	+	RNA	DEL	T	T	-	rs77881004		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:16911682delT	ENST00000448650.1	+	0	56																											ATTACCATCATTTTTTTTTTT	0.318													2	4	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22272337	22272338	+	RNA	DEL	GT	GT	-	rs76535419	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:22272337_22272338delGT	ENST00000450551.1	-	0	200																											gttgattagagtgtgtgtgtgt	0.366													5	4	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34108393	34108394	+	RNA	INS	-	-	A	rs144393570	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:34108393_34108394insA	ENST00000366209.2	+	0	134																											cctttggacttacagtggtttg	0.505													8	7	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48210726	48210727	+	RNA	INS	-	-	T	rs11450002	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:48210726_48210727insT	ENST00000447571.1	-	0	441																		p.0?(2)									AAATTCCAGGATTTTTTAAATA	0.317													5	3	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	51591352	51591353	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:51591352_51591353insT	ENST00000440698.1	+	0	615																											ccaaaccacgatgagataccat	0.391													4	2	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	52417107	52417107	+	RNA	DEL	T	T	-	rs35845804		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:52417107delT	ENST00000440698.1	+	0	879																											tcttcaaaagttgttagggat	0.348													4	2	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60319152	60319153	+	RNA	DEL	CA	CA	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:60319152_60319153delCA	ENST00000606382.1	-	0	110																											TAAATacacgcacacacacaca	0.406													2	4	---	---	---	---					
LOC644838	644838	broad.mit.edu	37	2	67413607	67413608	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:67413607_67413608insG	ENST00000433133.1	-	0	205				AC023115.2_ENST00000452716.1_lincRNA|AC023115.1_ENST00000594329.1_lincRNA	NR_038844.1																						GGAGAAGGGTTGGGGGCGTGTC	0.470													2	4	---	---	---	---					
LOC150776	150776	broad.mit.edu	37	2	132266282	132266282	+	RNA	DEL	G	G	-	rs74537446		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:132266282delG	ENST00000438378.2	+	0	1234					NR_026922.1																						GCTGGATGGTGGGAAGCAGAA	0.547													7	7	---	---	---	---					
AC074363.1	0	broad.mit.edu	37	2	168290205	168290205	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:168290205delA	ENST00000442316.1	+	0	164																											AACTGAACAGAAAAAAATGTG	0.284													2	4	---	---	---	---					
ZAK	51776	broad.mit.edu	37	2	174086040	174086040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:174086040delG	ENST00000338983.3	+	12	1345	c.1150delG	c.(1150-1152)ggfs	p.G384fs	MLTK_ENST00000375213.3_Intron|MLTK_ENST00000431503.2_Frame_Shift_Del_p.G283fs|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Frame_Shift_Del_p.G384fs|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron	NM_133646.2	NP_598407.1																					GATGGGCTTTGGGGATATCTT	0.478													10	67	---	---	---	---					
AC079613.1	0	broad.mit.edu	37	2	189482962	189482962	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:189482962delT	ENST00000431708.1	-	0	465																											gctttattcatttttttttca	0.313													2	4	---	---	---	---					
LINC00607	646324	broad.mit.edu	37	2	216518333	216518334	+	RNA	INS	-	-	G	rs66486236	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr2:216518333_216518334insG	ENST00000445174.1	-	0	723				AC012668.2_ENST00000417485.2_lincRNA	NR_037195.1																						CTGAAATAGACTTCAGAAATGT	0.431													4	2	---	---	---	---					
AC090044.2	0	broad.mit.edu	37	3	899364	899371	+	RNA	DEL	CTCTCTCT	CTCTCTCT	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:899364_899371delCTCTCTCT	ENST00000423193.1	+	0	150																											GTCCTGTAAActctctctctctctctct	0.462													3	4	---	---	---	---					
LINC00620	285375	broad.mit.edu	37	3	13761416	13761417	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:13761416_13761417insT	ENST00000419618.1	+	0	409				LINC00620_ENST00000438915.1_RNA	NR_027103.1																						ttctgttaatctttttttcagc	0.257													2	4	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84843597	84843597	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:84843597delG	ENST00000484892.1	-	0	1294					NR_033860.1																						ataaaaagttggGGACCAGGA	0.338													2	4	---	---	---	---					
RP11-457K10.1	0	broad.mit.edu	37	3	109520606	109520607	+	RNA	DEL	TG	TG	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:109520606_109520607delTG	ENST00000485384.1	+	0	29																											tgtgtgtgtttgtgtgtgtgtg	0.391													2	4	---	---	---	---					
RP11-572M11.4	0	broad.mit.edu	37	3	112824700	112824700	+	RNA	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:112824700delC	ENST00000460707.1	+	0	390				RP11-572M11.4_ENST00000496389.1_RNA																							ATGCTTCCCTCCCCAGTCCCC	0.453													3	4	---	---	---	---					
RP11-384F7.1	0	broad.mit.edu	37	3	118100866	118100867	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:118100866_118100867insA	ENST00000482142.1	-	0	232																											ATTTTTGTATTAAAAAAAAGGC	0.347													3	3	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172990424	172990425	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:172990424_172990425insT	ENST00000447709.1	+	0	216																											cagctttgttctttttgcagag	0.317													2	4	---	---	---	---					
RP11-134F2.2	0	broad.mit.edu	37	3	186371488	186371488	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:186371488delG	ENST00000428501.1	-	0	245				RP11-134F2.2_ENST00000455926.1_RNA																							ccagcactttgggaggctgag	0.507													2	4	---	---	---	---					
LOC100507391	100507391	broad.mit.edu	37	3	194445578	194445579	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr3:194445578_194445579insT	ENST00000423318.1	+	0	727					NR_037891.1																						catgagttcagttttttgtttg	0.480													2	4	---	---	---	---					
LINC01085	152742	broad.mit.edu	37	4	14113895	14113896	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:14113895_14113896insA	ENST00000502759.1	+	0	210					NR_033931.1																						GGAAAAACCTTAAAAAAAAAAA	0.371													2	4	---	---	---	---					
LOC101928851	101928851	broad.mit.edu	37	4	58305592	58305593	+	RNA	INS	-	-	T	rs58312088		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:58305592_58305593insT	ENST00000510956.1	+	0	544																											tgccattcacattttttttttt	0.361													3	2	---	---	---	---					
LINC01094	100505702	broad.mit.edu	37	4	79601115	79601116	+	RNA	INS	-	-	AGC	rs61256366	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:79601115_79601116insAGC	ENST00000503539.1	+	0	283					NR_038304.1|NR_038307.1																						taagaaaaagaaGCAGCAGCAG	0.441													2	4	---	---	---	---					
LOC101927849	101927849	broad.mit.edu	37	4	150177651	150177652	+	RNA	INS	-	-	A	rs142469308	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:150177651_150177652insA	ENST00000503100.1	+	0	2175																											tcagcatttagaaaaaaaaaag	0.421													2	4	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190832285	190832286	+	RNA	DEL	GA	GA	-	rs73876003		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr4:190832285_190832286delGA	ENST00000511785.1	-	0	231																											TATCAATATGGAAAAAAAAAGA	0.327													3	5	---	---	---	---					
LOC285692	285692	broad.mit.edu	37	5	9830718	9830721	+	RNA	DEL	CACA	CACA	-	rs35981977		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:9830718_9830721delCACA	ENST00000511616.1	-	0	521					NR_027112.2																						CGTGCGCGCGcacacacacacaca	0.412													2	4	---	---	---	---					
LOC285692	285692	broad.mit.edu	37	5	9874116	9874119	+	RNA	DEL	AAGG	AAGG	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:9874116_9874119delAAGG	ENST00000511616.1	-	0	521				RP11-447B18.1_ENST00000508097.1_lincRNA	NR_027112.2																						ggaaggaagaaaggaaggaaggga	0.417													3	4	---	---	---	---					
LOC101929505	101929505	broad.mit.edu	37	5	16436373	16436374	+	RNA	INS	-	-	CCGGCACT	rs138065177	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:16436373_16436374insCCGGCACT	ENST00000513157.1	-	0	961																											actcggcacgcccggcactcgg	0.703													3	3	---	---	---	---					
CTD-2306M5.1	0	broad.mit.edu	37	5	25437995	25437996	+	RNA	DEL	CT	CT	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:25437995_25437996delCT	ENST00000507887.1	-	0	106																											TAAACACATACTCTCTCTCTCC	0.322													2	4	---	---	---	---					
CTD-2353F22.1	0	broad.mit.edu	37	5	36709463	36709463	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:36709463delA	ENST00000512329.1	-	0	63				CTD-2353F22.1_ENST00000508745.1_RNA|CTD-2353F22.1_ENST00000510740.1_RNA																							GTGATGCCCTAACAGCGTGAG	0.423													2	4	---	---	---	---					
OSMR-AS1	101929768	broad.mit.edu	37	5	38786801	38786813	+	RNA	DEL	TCAAGCCATGACT	TCAAGCCATGACT	-	rs71606511		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:38786801_38786813delTCAAGCCATGACT	ENST00000514586.1	+	0	67																											aagatacagctcaagccatgacttcaagccatg	0.549													3	4	---	---	---	---					
LOC101926940	101926940	broad.mit.edu	37	5	39522842	39522843	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:39522842_39522843insG	ENST00000604954.1	+	0	141																											ggttgtttcttggggggtgtga	0.520													2	4	---	---	---	---					
LOC102477328	102477328	broad.mit.edu	37	5	71933056	71933057	+	RNA	INS	-	-	GAGG			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:71933056_71933057insGAGG	ENST00000512573.1	-	0	103																											gaaaggaaagagagggagggag	0.525													4	5	---	---	---	---					
CTD-3179P9.1	0	broad.mit.edu	37	5	117524256	117524257	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:117524256_117524257insA	ENST00000509367.1	+	0	125																											ataggtataccaaaggctggga	0.386													2	4	---	---	---	---					
CTC-255N20.1	0	broad.mit.edu	37	5	146574054	146574054	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:146574054delG	ENST00000504297.1	-	0	322																											tgaaggctctgggcagacaag	0.527													2	4	---	---	---	---					
AC008691.1	0	broad.mit.edu	37	5	159187447	159187448	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:159187447_159187448insT	ENST00000523311.1	-	0	122																											tcctagtaatatttttttgtcc	0.450													2	4	---	---	---	---					
RP11-541P9.3	0	broad.mit.edu	37	5	162750905	162750906	+	RNA	DEL	AG	AG	-	rs79928240		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:162750905_162750906delAG	ENST00000503504.1	-	0	355				RP11-541P9.3_ENST00000458002.2_RNA																							AGAGGGAATCAGGGGTGTAGGG	0.426													4	2	---	---	---	---					
LINC01411	101928176	broad.mit.edu	37	5	173883410	173883411	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr5:173883410_173883411insG	ENST00000510234.1	+	0	194																											tgccaggggctggggggaaagg	0.460													2	4	---	---	---	---					
RP11-716O23.2	0	broad.mit.edu	37	6	11491456	11491457	+	RNA	DEL	TG	TG	-	rs58422600		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:11491456_11491457delTG	ENST00000423149.1	+	0	417																											gatatgtgcatgtgtgtgtgat	0.416													5	6	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974192	29974193	+	RNA	DEL	AG	AG	-	rs72236528		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:29974192_29974193delAG	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							CCATCTCCGCAGAGTTTCTCTT	0.634													3	5	---	---	---	---					
PBX2	5089	broad.mit.edu	37	6	32157642	32157643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:32157642_32157643insC	ENST00000375050.4	-	1	320_321	c.50_51insG	c.(49-51)gctfs	p.A17fs		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	17							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCAATCCCAggcccccccggcc	0.797													2	4	---	---	---	---					
RP1-261G23.5	0	broad.mit.edu	37	6	43695482	43695483	+	RNA	INS	-	-	TGAATGAA	rs70993412	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:43695482_43695483insTGAATGAA	ENST00000424283.1	-	0	174																											GATACGTTTGCtgaatgaatga	0.446													4	2	---	---	---	---					
CYP39A1	51302	broad.mit.edu	37	6	46607308	46607308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:46607308delC	ENST00000275016.2	-	3	614	c.411delG	c.(409-411)ggfs	p.G137fs		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	137					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAGTCAGTTGCCCAGTAAACT	0.373													12	75	---	---	---	---					
CLVS2	134829	broad.mit.edu	37	6	123392232	123392233	+	RNA	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:123392232_123392233insC	ENST00000426074.2	+	0	789_790																											actttgcatttccccccaatag	0.406													3	4	---	---	---	---					
RP11-69I8.3	0	broad.mit.edu	37	6	132386036	132386036	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr6:132386036delT	ENST00000435287.1	+	0	309																											AGAAAGGGCATTTTTTTCATA	0.378													2	4	---	---	---	---					
NPSR1-AS1	404744	broad.mit.edu	37	7	34623024	34623025	+	RNA	DEL	GT	GT	-	rs60442756	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:34623024_34623025delGT	ENST00000419766.1	-	0	160					NR_033664.1|NR_033665.1																						GAAGTTTGACgtgtgtgtgtgt	0.396													3	6	---	---	---	---					
GS1-124K5.11	0	broad.mit.edu	37	7	65995950	65995951	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:65995950_65995951insA	ENST00000449307.2	-	0	2215_2216																											actctatctccaaaaaaaaaag	0.574													2	4	---	---	---	---					
RP5-945F2.3	0	broad.mit.edu	37	7	67646471	67646472	+	RNA	INS	-	-	GG	rs71074108		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:67646471_67646472insGG	ENST00000446187.1	-	0	444																											gaaagaaggaaggaaggaaggg	0.465													3	3	---	---	---	---					
RP11-3P22.2	0	broad.mit.edu	37	7	68721028	68721028	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:68721028delT	ENST00000435148.1	-	0	590																											CCTTTCCTCCTTCTCCCACTG	0.517													2	4	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72070344	72070345	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:72070344_72070345insT	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										tgtttgttttgttttttttttt	0.416													3	4	---	---	---	---					
LINC-PINT	378805	broad.mit.edu	37	7	130724867	130724867	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr7:130724867delA	ENST00000451786.1	-	0	1655																											ATAAAAGGGGAAAAAAAAGTA	0.388													2	4	---	---	---	---					
CTD-2541M15.1	0	broad.mit.edu	37	8	6507008	6507009	+	RNA	INS	-	-	G	rs111718829	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:6507008_6507009insG	ENST00000525186.1	-	0	291				CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA																							AGGacagaacagtgactatgga	0.480													6	3	---	---	---	---					
RP11-962G15.1	0	broad.mit.edu	37	8	36532615	36532616	+	RNA	INS	-	-	G	rs116156307	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:36532615_36532616insG	ENST00000524132.1	-	0	484																											gtttggtgtgtgggggggtacg	0.426													3	4	---	---	---	---					
LOC102723701	102723701	broad.mit.edu	37	8	37593486	37593487	+	Frame_Shift_Ins	INS	-	-	A	rs112819064		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:37593486_37593487insA	ENST00000330539.1	-	2	877_878	c.529_530insT	c.(529-531)tctfs	p.S177fs																								ATCAAGGAGAGAAAAAAAAAAA	0.460													2	4	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)tgfs	p.M308fs	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373													7	114	---	---	---	---					
RP11-91I20.1	0	broad.mit.edu	37	8	61574013	61574013	+	RNA	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:61574013delC	ENST00000373384.4	+	0	365																											GCATCAGACTCCTTGATTGTA	0.413													2	4	---	---	---	---					
LINC01299	286186	broad.mit.edu	37	8	66441972	66441972	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:66441972delT	ENST00000520902.1	-	0	2056					NR_033893.1																						CCTCTGTGGATTTTTTTTGAC	0.488													2	4	---	---	---	---					
CNBD1	168975	broad.mit.edu	37	8	88571817	88571820	+	RNA	DEL	AGAA	AGAA	-	rs3082607		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:88571817_88571820delAGAA	ENST00000440763.2	-	0	205																											agacacagagagaaagaaagaaag	0.353													2	4	---	---	---	---					
LOC101927822	101927822	broad.mit.edu	37	8	134902223	134902223	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:134902223delA	ENST00000520149.2	+	0	45																											gttaggagttaatgagatagt	0.413													2	4	---	---	---	---					
LOC401478	401478	broad.mit.edu	37	8	138976365	138976366	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr8:138976365_138976366insA	ENST00000518973.1	-	0	514																											gactccatctcaaaaaaaaaaa	0.450													2	4	---	---	---	---					
SPATA31A6	389730	broad.mit.edu	37	9	43627843	43627843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:43627843delG	ENST00000332857.6	-	4	872	c.844delC	c.(844-846)ggfs	p.R282fs	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCCTGCCACCGGGAGGAGGCA	0.567													36	59	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66460027	66460027	+	RNA	DEL	T	T	-	rs112286776		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr9:66460027delT	ENST00000424345.1	+	0	224																											ttgggaaggcttttcacatat	0.343													7	17	---	---	---	---					
SEC61A2	55176	broad.mit.edu	37	10	12203072	12203077	+	In_Frame_Del	DEL	ATTCTT	ATTCTT	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:12203072_12203077delATTCTT	ENST00000379033.3	+	9	1200_1205	c.1053_1058delATTCTT	c.(1051-1059)gcc>gc	p.AFF351del	SEC61A2_ENST00000298428.9_In_Frame_Del_p.AFF373del|SEC61A2_ENST00000304267.8_In_Frame_Del_p.AFF373del|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_In_Frame_Del_p.AFF307del	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	373						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGTCATGTGCATTCTTCTCTAAGACA	0.427													7	70	---	---	---	---					
RP11-672F9.1	0	broad.mit.edu	37	10	38568628	38568628	+	RNA	DEL	G	G	-	rs78671817		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr10:38568628delG	ENST00000450980.1	+	0	144																											AAACAACCCTGGGAACTGTAA	0.453													2	4	---	---	---	---					
OR56B4	196335	broad.mit.edu	37	11	6129094	6129094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:6129094delG	ENST00000316529.3	+	1	181	c.86delG	c.(85-87)tgfs	p.W29fs		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W29*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCATGAGTGGCAGCACTGG	0.512													19	105	---	---	---	---					
RP11-324J3.1	0	broad.mit.edu	37	11	7245841	7245842	+	RNA	DEL	AG	AG	-	rs71838519		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:7245841_7245842delAG	ENST00000534653.1	+	0	75																											ggagacagacagagagagagag	0.465													3	5	---	---	---	---					
LINC00301	283197	broad.mit.edu	37	11	60411453	60411454	+	RNA	DEL	AC	AC	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:60411453_60411454delAC	ENST00000320202.4	+	0	320					NR_026946.1																						aggccagattacacacacacac	0.361													4	4	---	---	---	---					
RP11-807H22.7	0	broad.mit.edu	37	11	71918436	71918436	+	RNA	DEL	A	A	-	rs35124063		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:71918436delA	ENST00000378140.3	-	0	195																											ATCGCCCattaaaaaaaaaaa	0.488													2	4	---	---	---	---					
DISC1FP1	101929222	broad.mit.edu	37	11	90231320	90231320	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:90231320delT	ENST00000562678.1	+	0	43																											aagtgggcaattagtactatg	0.299													2	4	---	---	---	---					
RP11-644L4.1	0	broad.mit.edu	37	11	95431682	95431683	+	RNA	INS	-	-	T	rs112869793	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:95431682_95431683insT	ENST00000545912.1	+	0	125																											TTTCTTCATTATTTTTTTCTCT	0.327													3	6	---	---	---	---					
RP11-64D24.2	0	broad.mit.edu	37	11	114126756	114126757	+	RNA	INS	-	-	TG	rs77004081		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:114126756_114126757insTG	ENST00000544925.1	-	0	56																											tttttttttttgttttttttgc	0.342													3	4	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119341682	119341683	+	RNA	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr11:119341682_119341683insC	ENST00000498979.2	+	0	440				USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NR_034160.1																						TGCTGTGATGGCCCCCCCAATA	0.619													2	4	---	---	---	---					
LINC00940	100271702	broad.mit.edu	37	12	2041888	2041889	+	RNA	INS	-	-	G	rs144077843	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:2041888_2041889insG	ENST00000418006.1	-	0	121					NR_036546.1																						CTGGGTGCTGTGGGGCCAAACC	0.599													7	0	---	---	---	---					
LOC102724050	102724050	broad.mit.edu	37	12	54786946	54786947	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:54786946_54786947insA	ENST00000550474.1	+	0	47				RP11-753H16.5_ENST00000552785.1_RNA																							ACTCCAGTATGAAAAACCCTTG	0.535													2	4	---	---	---	---					
RP11-956E11.1	0	broad.mit.edu	37	12	69845056	69845057	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:69845056_69845057insA	ENST00000549261.1	+	0	219																											ccctgtccctcaaaaaaaaaaa	0.426													4	8	---	---	---	---					
RP1-34H18.1	0	broad.mit.edu	37	12	77921221	77921222	+	RNA	INS	-	-	A			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:77921221_77921222insA	ENST00000550042.1	+	0	574																											cagagacacacaaaaaaagaca	0.381													2	4	---	---	---	---					
RP11-530C5.1	0	broad.mit.edu	37	12	80153427	80153428	+	RNA	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:80153427_80153428insC	ENST00000551995.1	+	0	253																											atgctatccctccccccctctc	0.470													2	4	---	---	---	---					
RP11-474D1.4	0	broad.mit.edu	37	12	130517988	130517989	+	RNA	INS	-	-	TT	rs34078834	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr12:130517988_130517989insTT	ENST00000561864.1	-	0	322																											ctcaccattgatttttttctta	0.381													3	5	---	---	---	---					
RP11-141M1.3	0	broad.mit.edu	37	13	34092212	34092213	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:34092212_34092213insG	ENST00000454681.2	-	0	226																											GACTAGAAGTTGGGGGCAGGAA	0.416													2	4	---	---	---	---					
UTP14C	9724	broad.mit.edu	37	13	52603472	52603472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr13:52603472delA	ENST00000521776.2	+	2	1265	c.532delA	c.(532-534)agfs	p.K178fs	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	178					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAGTGGCTGGAAGGCAAGAAC	0.527													15	94	---	---	---	---					
RP11-964E11.2	0	broad.mit.edu	37	14	37126056	37126056	+	RNA	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:37126056delC	ENST00000555107.1	-	0	258																											TCTTGCTTTTCCCACACGCAG	0.562											OREG0022661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
CTD-2509G16.5	0	broad.mit.edu	37	14	65734544	65734545	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:65734544_65734545insG	ENST00000553754.1	-	0	368																											GTGTGTGTCGTGGGGGGGACTG	0.460													2	4	---	---	---	---					
LINC01146	283587	broad.mit.edu	37	14	88532179	88532179	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:88532179delG	ENST00000556033.1	+	0	195					NR_046094.1																						AAGTCCTTCTGGAGGTTCACT	0.438													2	4	---	---	---	---					
LOC100129345	100129345	broad.mit.edu	37	14	98100747	98100748	+	RNA	INS	-	-	A	rs34515772		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr14:98100747_98100748insA	ENST00000355909.3	-	0	625					NR_033943.1																						ATGTTTCTATCAAAAAAAAAAA	0.347													3	2	---	---	---	---					
LINC00929	503519	broad.mit.edu	37	15	26364297	26364297	+	RNA	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:26364297delC	ENST00000556159.1	+	0	303					NR_038851.1																						CATGCCCCTTCCAGTCAGGCG	0.567													3	4	---	---	---	---					
CYP1A1	1543	broad.mit.edu	37	15	75013626	75013627	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:75013626_75013627delAG	ENST00000379727.3	-	5	1277_1278	c.1079_1080delCT	c.(1078-1080)tfs	p.S360fs	CYP1A1_ENST00000564596.1_Frame_Shift_Del_p.S99fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.S360fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.S360fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.S360fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	360					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGGATCTGTCAGAGAGCCGGGG	0.609									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				7	20	---	---	---	---					
EFTUD1P1	648809	broad.mit.edu	37	15	84760507	84760507	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr15:84760507delT	ENST00000558187.1	+	0	412																											TTAGGTACCCttttttttttt	0.478													2	4	---	---	---	---					
BCL7C	9274	broad.mit.edu	37	16	30899222	30899223	+	Frame_Shift_Ins	INS	-	-	G	rs150838242		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:30899222_30899223insG	ENST00000215115.4	-	6	1632_1633	c.617_618insC	c.(616-618)cctfs	p.P206fs	MIR4519_ENST00000565573.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TGCGCTTGAGTGGGGGGGCACC	0.619													7	76	---	---	---	---					
CTD-3032H12.2	0	broad.mit.edu	37	16	54977542	54977543	+	RNA	INS	-	-	T	rs11414609		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:54977542_54977543insT	ENST00000560487.1	+	0	179																											GTTTTGTTTTATTTTTTTTTCT	0.351													2	4	---	---	---	---					
LOC101927580	101927580	broad.mit.edu	37	16	60081049	60081049	+	RNA	DEL	T	T	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:60081049delT	ENST00000568279.1	+	0	467																											Ctttctttccttttttttttt	0.418													2	4	---	---	---	---					
RP11-256I9.3	0	broad.mit.edu	37	16	65278007	65278008	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:65278007_65278008insT	ENST00000562656.1	+	0	125																											CTTTCATTGAGTTTTTCTTCAT	0.351													2	4	---	---	---	---					
LOC102724084	102724084	broad.mit.edu	37	16	80191431	80191434	+	RNA	DEL	AGTC	AGTC	-	rs35664269		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr16:80191431_80191434delAGTC	ENST00000565050.1	-	0	717				RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.1_ENST00000567851.1_lincRNA																							cagaggacatagtcagcaagtgtg	0.451													2	4	---	---	---	---					
RABEP1	9135	broad.mit.edu	37	17	5250110	5250110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:5250110delA	ENST00000262477.6	+	6	898	c.674delA	c.(673-675)gafs	p.E225fs	RABEP1_ENST00000408982.2_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000341923.6_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000546142.2_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000537505.1_Frame_Shift_Del_p.E182fs	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	225					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CATTATCTGGAAGCTGAGAAA	0.348													15	31	---	---	---	---					
COX10-AS1	100874058	broad.mit.edu	37	17	13709039	13709040	+	RNA	INS	-	-	AGGA	rs12938908		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:13709039_13709040insAGGA	ENST00000577798.2	-	0	373				COX10-AS1_ENST00000602743.1_RNA|COX10-AS1_ENST00000582752.2_RNA																							ggaaggaaggtaggaaggaagg	0.416													8	4	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20867757	20867758	+	RNA	INS	-	-	CG	rs77675313	by1000genomes	TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:20867757_20867758insCG	ENST00000582583.1	+	0	799				RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-381P6.1_ENST00000581673.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA																							acacacacacatacacacaAGt	0.431													8	0	---	---	---	---					
LRRC37A11P	342666	broad.mit.edu	37	17	37188333	37188334	+	RNA	INS	-	-	G			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:37188333_37188334insG	ENST00000425901.2	+	0	2175_2176					NR_033753.2																						TCTCCAGACCTGGGGCTTGCCA	0.500													14	64	---	---	---	---					
CTD-2033D24.2	0	broad.mit.edu	37	17	53606971	53606972	+	RNA	DEL	AC	AC	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:53606971_53606972delAC	ENST00000455347.1	-	0	135																											tactaaaaatacacacacacac	0.525													4	5	---	---	---	---					
SOX9-AS1	400618	broad.mit.edu	37	17	70047870	70047870	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr17:70047870delG	ENST00000540802.1	-	0	272																											aatttaagatgggatcctgga	0.423													2	4	---	---	---	---					
RP11-449D8.5	0	broad.mit.edu	37	18	22326225	22326226	+	RNA	DEL	AC	AC	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:22326225_22326226delAC	ENST00000582650.1	+	0	235																											Gcacacacagacacacacacac	0.485													2	4	---	---	---	---					
AQP4-AS1	147429	broad.mit.edu	37	18	24422701	24422702	+	RNA	DEL	AG	AG	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:24422701_24422702delAG	ENST00000582605.1	+	0	305				AQP4-AS1_ENST00000579964.1_RNA																							GGGGTGGGGAagagagagagag	0.431													3	5	---	---	---	---					
RP11-879F14.2	0	broad.mit.edu	37	18	59272630	59272632	+	RNA	DEL	AAG	AAG	-	rs12458063		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr18:59272630_59272632delAAG	ENST00000587754.1	-	0	192				RP11-879F14.1_ENST00000590968.1_lincRNA																							aaaaaaaaaaaagaaaaaaaaaa	0.330													2	4	---	---	---	---					
ZNF814	730051	broad.mit.edu	37	19	58384768	58384768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr19:58384768delC	ENST00000435989.2	-	3	2224	c.1990delG	c.(1990-1992)aafs	p.E664fs	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	664					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCCCACATTCCCCACACTTA	0.403													12	20	---	---	---	---					
IDH3B	3420	broad.mit.edu	37	20	2644634	2644634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:2644634delC	ENST00000380843.4	-	2	84	c.54delG	c.(52-54)ggfs	p.G18fs	IDH3B_ENST00000380851.5_Frame_Shift_Del_p.G18fs|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	18					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCCCAGGGTTCCCGGCGGAGA	0.607													11	43	---	---	---	---					
LINC01270	284751	broad.mit.edu	37	20	48910385	48910385	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:48910385delG	ENST00000371639.3	+	0	111					NR_034124.1																						GCTGGGGGCCGGTGGTGGGCA	0.657													2	4	---	---	---	---					
MC3R	4159	broad.mit.edu	37	20	54824146	54824147	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr20:54824146_54824147insC	ENST00000243911.2	+	1	359_360	c.247_248insC	c.(247-249)cgafs	p.R83fs		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	120					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGCGGTGGCCGACATGCTG	0.559													13	71	---	---	---	---					
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862645	10862645	+	RNA	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:10862645delG	ENST00000559480.1	+	0	24																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGAGGATCCTGTTTTTGGTGG	0.507													15	296	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11031726	11031726	+	RNA	DEL	A	A	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:11031726delA	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacctgctacaagagtctact	0.453													4	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11041957	11041963	+	RNA	DEL	AGTTTTG	AGTTTTG	-	rs60976621		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:11041957_11041963delAGTTTTG	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTTCATATAGTTTTGAGTTTTGAAA	0.309													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11056427	11056427	+	RNA	DEL	G	G	-	rs137953514		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:11056427delG	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acatatttttggggggtctct	0.303													5	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11084853	11084854	+	RNA	INS	-	-	A	rs3048283		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:11084853_11084854insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCAAATTCTGAAAAAAACAAG	0.455													3	4	---	---	---	---					
LINC00189	193629	broad.mit.edu	37	21	30603873	30603873	+	RNA	DEL	T	T	-	rs72218621		TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr21:30603873delT	ENST00000420364.1	+	0	767					NR_027072.2																						atcacaggtcttttttttttt	0.468													4	2	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20936975	20936976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr22:20936975_20936976insC	ENST00000263205.7	+	10	1419_1420	c.1350_1351insC	c.(1348-1353)ccccccfs	p.PP450fs	MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Frame_Shift_Ins_p.PP384fs|MED15_ENST00000425759.2_Frame_Shift_Ins_p.PP299fs|MED15_ENST00000541476.1_Frame_Shift_Ins_p.PP384fs|MED15_ENST00000292733.7_Frame_Shift_Ins_p.PP410fs|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Frame_Shift_Ins_p.PP339fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	450	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGATGCCCCCTCCCCCCCAGCC	0.728													3	3	---	---	---	---					
LARGE	9215	broad.mit.edu	37	22	33602389	33602390	+	RNA	INS	-	-	T			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chr22:33602389_33602390insT	ENST00000421232.1	-	0	150																											AATTGCATGACTTTTTTTTTCC	0.455													2	4	---	---	---	---					
RP11-309M23.1	0	broad.mit.edu	37	X	951194	951197	+	RNA	DEL	TCTC	TCTC	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:951194_951197delTCTC	ENST00000420865.1	+	0	207																											TGGctctctttctctctctctctc	0.574													2	4	---	---	---	---					
RP3-410B11.1	0	broad.mit.edu	37	X	17992366	17992366	+	RNA	DEL	C	C	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrX:17992366delC	ENST00000453902.1	-	0	305																											TCTCCTTTTTCCCCAGGTATT	0.433													2	4	---	---	---	---					
USP9Y	8287	broad.mit.edu	37	Y	14959240	14959240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z042-01A-01W-0746-08	TCGA-17-Z042-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c303c9d-6cda-490d-a64d-21bc40b064f3	5448ca84-dc5f-435d-866b-1d6366803929	g.chrY:14959240delG	ENST00000338981.3	+	42	7997	c.7052delG	c.(7051-7053)tgfs	p.W2351fs	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2351					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGGACTCCTGGCAGACTCAC	0.358													15	20	---	---	---	---					
