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
RBM27	54439	broad.mit.edu	37	5	145664246	145664246	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:145664246A>T	ENST00000265271.5	+	20	3216	c.3050A>T	c.(3049-3051)aAg>aTg	p.K1017M	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1017					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAGCCCAAGGTACCATCT	0.378000													33	68					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196509546	196509546	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:196509546A>G	ENST00000327134.3	+	2	351	c.29A>G	c.(28-30)aAg>aGg	p.K10R		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	10					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGGAAGATAAGCCTCCAGCA	0.418000													4	199					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9790619	9790619	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:9790619T>A	ENST00000377298.4	-	19	3685	c.2893A>T	c.(2893-2895)Aac>Tac	p.N965Y	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N955Y|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N946Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	965					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGTTGCGTTCTGGGGGTCG	0.642000													16	55					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38027685	38027685	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:38027685G>A	ENST00000296218.7	+	5	656	c.646G>A	c.(646-648)Gca>Aca	p.A216T	DNALI1_ENST00000541606.1_Missense_Mutation_p.A68T|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	194					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCAGATCGCAGAATTGGA	0.557000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	55					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13470441	13470441	+	Silent	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:13470441C>G	ENST00000360228.5	-	6	956	c.957G>C	c.(955-957)ggG>ggC	p.G319G	CACNA1A_ENST00000573710.2_Silent_p.G319G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	319					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATCAGTCCACCCTTCCATGG	0.527000													9	19					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49575540	49575540	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:49575540C>T	ENST00000221444.1	-	1	658	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GTGCCAGGGCCGCCGCGCCCA	0.746000													6	3					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217217	21217217	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:21217217G>A	ENST00000380216.1	-	1	93	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCCAGGCTGTGAGTCTGAGGC	0.502000													119	112					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36864101	36864101	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:36864101C>T	ENST00000325718.7	+	4	421	c.330C>T	c.(328-330)taC>taT	p.Y110Y	MLLT6_ENST00000378137.5_Silent_p.Y110Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	110					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGCAGTACGTGCCTCATG	0.617000			T	MLL	AL								14	38					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146678785	146678785	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:146678785G>A	ENST00000392299.2	+	6	2027	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V	GRM1_ENST00000507907.1_Silent_p.V519V|GRM1_ENST00000282753.1_Silent_p.V519V|GRM1_ENST00000355289.4_Silent_p.V519V|GRM1_ENST00000361719.2_Silent_p.V519V|GRM1_ENST00000492807.2_Silent_p.V519V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	519					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAGTGGAGTGGTGCGGTCTG	0.478000													23	64					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128025	35128025	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:35128025C>T	ENST00000339266.5	+	7	2045	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P143L|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P682L|DLGAP4_ENST00000373913.3_Intron	NM_001042486.2	NP_001035951.1	Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	682					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAAGAGGAGCCCAGTCCCGCT	0.532000													9	16					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095969	178095969	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:178095969G>A	ENST00000397062.3	-	5	1916	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	NFE2L2_ENST00000464747.1_Silent_p.L438L|NFE2L2_ENST00000446151.2_Silent_p.L431L|NFE2L2_ENST00000397063.4_Silent_p.L438L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	454					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CATCTCTTGTGAGATGAGCCT	0.428000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			70	181					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138603675G>A	ENST00000440172.1	-	2	745	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R233W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	233						integral to membrane		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493000			O	BRAF	pilocytic astrocytoma								29	96					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86506407	86506407	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:86506407T>C	ENST00000297814.2	-	6	1755	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	KIF27_ENST00000334204.2_Missense_Mutation_p.I538V|KIF27_ENST00000413982.1_Missense_Mutation_p.I538V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	538					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTCTATTATTTTTTCATTC	0.303000													17	29					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378057	31378057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:31378057C>A	ENST00000297142.3	-	2	1148	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	276					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGTTTCTTCTTGCTTCAGG	0.483000													16	46					4.7546e-09	5.10166e-09	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131415428	131415428	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:131415428G>A	ENST00000512055.1	-	9	2591	c.465C>T	c.(463-465)gaC>gaT	p.D155D	CPNE4_ENST00000512332.1_Silent_p.D173D|CPNE4_ENST00000511604.1_Silent_p.D155D|CPNE4_ENST00000502818.1_Silent_p.D173D|CPNE4_ENST00000429747.1_Silent_p.D155D			Q96A23	CPNE4_HUMAN	copine IV	155	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTCAACATAGTCGTCATTGC	0.413000													31	90					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25881995	25881995	+	Silent	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:25881995A>C	ENST00000463407.1	+	2	302	c.159A>C	c.(157-159)ccA>ccC	p.P53P	NUPL1_ENST00000381718.3_Silent_p.P53P|NUPL1_ENST00000381736.3_Silent_p.P53P|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	53	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTCAACTCCAGCAACTACAT	0.428000													31	100					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	28					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	538871	538871	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:538871C>A	ENST00000262305.4	+	5	1524	c.1136C>A	c.(1135-1137)tCt>tAt	p.S379Y	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83Y|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379Y	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	379					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CATGGCCAGTCTGTCATCACG	0.597000													9	42					1.33987e-11	1.44824e-11	1	1	0
ITSN2	50618	broad.mit.edu	37	2	24533505	24533505	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24533505T>C	ENST00000355123.4	-	6	852	c.409A>G	c.(409-411)Ata>Gta	p.I137V	ITSN2_ENST00000406921.3_Missense_Mutation_p.I137V|ITSN2_ENST00000361999.3_Missense_Mutation_p.I137V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	137					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGATGTTATAGGTGCAGCT	0.448000													19	51					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72312230	72312230	+	Splice_Site	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:72312230G>T	ENST00000550746.1	+	15	1616		c.e15-1		TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCTGCATAGAATCTCAGGA	0.333000													27	75					6.32553e-13	6.9392e-13	1	1	0
NLRP6	171389	broad.mit.edu	37	11	281034	281034	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:281034G>A	ENST00000534750.1	+	4	1505	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D434N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	434	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCGGTAGCCGACGGGCCCCG	0.672000													15	128					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577017	7577017	+	Splice_Site	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:7577017A>C	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(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)		CTGCTTGCTTACCTCGCTTAG	0.557000		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)			44	26					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091550	31091550	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:31091550G>C	ENST00000394979.2	+	1	4328	c.3905G>C	c.(3904-3906)gGg>gCg	p.G1302A	ZNF646_ENST00000300850.5_Missense_Mutation_p.G1302A			O15015	ZN646_HUMAN	zinc finger protein 646	1302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTCCGCTGTGGGCAGTGCGGG	0.701000													16	21					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105521276	105521276	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:105521276G>C	ENST00000276654.5	-	3	271	c.163C>G	c.(163-165)Cga>Gga	p.R55G	LRP12_ENST00000424843.2_Missense_Mutation_p.R36G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408000													31	113					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7690779	7690779	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:7690779C>T	ENST00000358368.4	-	6	846	c.809G>A	c.(808-810)gGc>gAc	p.G270D	XAB2_ENST00000534844.1_Missense_Mutation_p.G267D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	270					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCGAAATGGCCGCTGCGGAT	0.632000								Direct reversal of damage;Nucleotide excision repair (NER)					4	52					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364163	23364163	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:23364163T>C	ENST00000343070.2	+	3	529	c.353T>C	c.(352-354)cTg>cCg	p.L118P	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L163P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	118					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGGATGAGCTGATGGAAGCT	0.517000													26	57					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55903523	55903523	+	Splice_Site	SNP	G	G	A	rs147903375		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:55903523G>A	ENST00000521992.1	-	5	783	c.638_splice	c.e5+1	p.T213_splice	CES5A_ENST00000290567.9_Splice_Site_p.T184_splice|CES5A_ENST00000319165.9_Splice_Site_p.T184_splice|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Splice_Site_p.T154_splice|CES5A_ENST00000518005.1_Splice_Site_p.T78_splice	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	184						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAGACTCACGTGAAGAAACC	0.557000													22	66					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128298	150128298	+	Silent	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:150128298G>C	ENST00000369124.4	+	3	494	c.216G>C	c.(214-216)ctG>ctC	p.L72L	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	72	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATTTGACCTGAGTGACTATG	0.458000													51	128					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587000													25	31					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529204	13529204	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:13529204C>T	ENST00000318426.2	-	2	353	c.136G>A	c.(136-138)Gat>Aat	p.D46N	C12orf36_ENST00000527705.2_Missense_Mutation_p.D46N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D46N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D46N|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		AACAACTGatctgggtcagcc	0.522000													19	40					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467739	164467739	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:164467739C>G	ENST00000333129.3	-	3	917	c.603G>C	c.(601-603)caG>caC	p.Q201H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	201						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGGTGCTGGCTGGCTACTAT	0.552000													15	36					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125237806	125237806	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:125237806C>A	ENST00000298282.9	+	5	423	c.152C>A	c.(151-153)gCt>gAt	p.A51D	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	51						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)		CCCTCAGCTGCTGCCAGCACA	0.622000													18	22					2.94398e-08	3.11342e-08	1	1	0
IL1RAP	3556	broad.mit.edu	37	3	190338140	190338140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:190338140C>G	ENST00000412504.2	+	5	866	c.614C>G	c.(613-615)tCa>tGa	p.S205*	IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.S64*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.S205*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	205	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCTTAATTTCAAATAATGGA	0.318000													39	67					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCAGCAGCCGCACACCGCCC	0.711000													3	29					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13466583	13466583	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:13466583T>C	ENST00000278174.5	-	2	334	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	30						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGAATGTTTATAAAGTTTACG	0.408000													31	42					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66660159	66660159	+	Silent	SNP	C	C	T	rs142524777	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:66660159C>T	ENST00000359626.5	+	15	1976	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	604					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.G604G(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTCCACAGGGCGTTACCTACT	0.493000													23	67					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76808947	76808947	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:76808947C>T	ENST00000312010.6	-	13	1726	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Missense_Mutation_p.G468R|USP36_ENST00000449938.2_Missense_Mutation_p.G168R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	468					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AATACCTTTCCAGTCAGTGGG	0.537000													16	30					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10132224	10132224	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:10132224C>G	ENST00000343090.6	+	2	238	c.163C>G	c.(163-165)Ctc>Gtc	p.L55V	UBE4B_ENST00000253251.8_Missense_Mutation_p.L55V|UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Missense_Mutation_p.L55V	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	55					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTCTTGGTCTCAATGTCCA	0.552000													7	46					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122830103	122830103	+	Missense_Mutation	SNP	G	G	A	rs146523567		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:122830103G>A	ENST00000227349.2	+	9	2584	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	C11orf63_ENST00000531316.1_Missense_Mutation_p.E763K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	763										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAACAGACACGAAAGGGAAAA	0.418000													3	43					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533698	55533698	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:55533698C>T	ENST00000220676.1	+	2	320	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	58	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCAACCCTCGCTCCTTTAA	0.567000													33	133					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19451155	19451155	+	Silent	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:19451155A>G	ENST00000375267.2	-	65	9471	c.9468T>C	c.(9466-9468)taT>taC	p.Y3156Y	UBR4_ENST00000375217.2_Silent_p.Y3149Y|UBR4_ENST00000375226.2_Silent_p.Y3132Y|UBR4_ENST00000375254.3_Silent_p.Y3156Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3156					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCTGAGTATAGGCCTCAA	0.433000													25	82					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976406	36976406	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:36976406A>G	ENST00000282516.8	+	9	1896	c.1397A>G	c.(1396-1398)tAt>tGt	p.Y466C	NIPBL_ENST00000448238.2_Missense_Mutation_p.Y466C|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	466					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACCTATATATGATGAAGTG	0.408000													30	66					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60794928	60794928	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:60794928C>A	ENST00000340177.5	-	1	383	c.99G>T	c.(97-99)tgG>tgT	p.W33C	HRH3_ENST00000317393.6_Missense_Mutation_p.W33C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	33					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCACCGCGGTCCAGGCTGCCG	0.776000													7	5					2.7689e-08	2.94948e-08	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507187	74507187	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:74507187T>C	ENST00000354431.4	-	7	1619	c.1428A>G	c.(1426-1428)aaA>aaG	p.K476K	LRRIQ3_ENST00000395089.1_Silent_p.K476K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	476										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAATTGTCTCTTTATTTTCTT	0.338000													36	140					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41553243	41553243	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:41553243A>G	ENST00000263253.7	+	18	4551	c.3332A>G	c.(3331-3333)tAt>tGt	p.Y1111C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1111	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGGACAGTATCAGGAGCCC	0.398000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				24	69					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748794	25748794	+	RNA	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:25748794C>T	ENST00000586223.1	+	0	695					NR_033892.1																						GGACAGGCACCCATGGCTGTG	0.587000													6	20					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915144	30915144	+	Missense_Mutation	SNP	G	G	A	rs146282381		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:30915144G>A	ENST00000375318.2	-	3	382	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	63					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATCCAGGACCGTCTGGGCTGT	0.572000													21	57					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944789	4944789	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:4944789A>G	ENST00000321961.2	-	1	848	c.781T>C	c.(781-783)Tct>Cct	p.S261P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACAAGAGACAAGCCAATC	0.522000													6	57					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097187	44097187	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:44097187G>A	ENST00000422989.1	-	3	1018	c.863C>T	c.(862-864)gCg>gTg	p.A288V	IRGQ_ENST00000602269.1_Missense_Mutation_p.A288V|L34079.2_ENST00000594374.1_Missense_Mutation_p.A1V	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	288	Poly-Ala.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCGGCGGCCGCGGTGGTGGC	0.697000													9	23					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602255	58602255	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:58602255C>T	ENST00000287275.1	-	6	922	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E178K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	178						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCCCAGTGTTCATTCACAAGA	0.413000													16	15					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156255506	156255506	+	Silent	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:156255506G>T	ENST00000405535.2	+	2	660	c.489G>T	c.(487-489)cgG>cgT	p.R163R	TMEM79_ENST00000295694.5_Silent_p.R163R|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGCCCCCCCGGGTCACCCACC	0.657000													10	36					0.00829132	0.00834811	1	1	0
MYH2	4620	broad.mit.edu	37	17	10436835	10436835	+	Silent	SNP	C	C	T	rs79757188	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:10436835C>T	ENST00000245503.5	-	20	2679	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.G765G|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	765	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGGTGTGCCCAAATTTAT	0.423000													97	77					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40231714	40231714	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:40231714G>T	ENST00000263791.5	+	2	196	c.153G>T	c.(151-153)gaG>gaT	p.E51D	EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E51D|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E51D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	51	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTCAAAGAGCCCCCTGAAA	0.338000													22	52					8.04996e-18	8.96473e-18	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56140620	56140620	+	Silent	SNP	T	T	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:56140620T>G	ENST00000508342.1	-	13	3048	c.2749A>C	c.(2749-2751)Aga>Cga	p.R917R	NEDD4_ENST00000435532.3_Silent_p.R498R|NEDD4_ENST00000506154.1_Silent_p.R901R|NEDD4_ENST00000338963.2_Silent_p.R845R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	917	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATTGTGTTCTTTTTATATCT	0.383000													10	131					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271400	1271400	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1271400G>A	ENST00000447027.1	+	31	13357	c.13299G>A	c.(13297-13299)acG>acA	p.T4433T	MUC5B_ENST00000529681.1_Silent_p.T4430T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4430	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGCGTCCA	0.667000													127	159					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72399991	72399991	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:72399991C>A	ENST00000340595.3	+	15	2392	c.2196C>A	c.(2194-2196)aaC>aaA	p.N732K	SLC4A4_ENST00000425175.1_Missense_Mutation_p.N776K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N776K|SLC4A4_ENST00000264485.5_Missense_Mutation_p.N776K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	776						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGGAGAAAACCCCTGGTGGG	0.418000													33	68					1.61788e-16	1.78818e-16	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100443876	100443876	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:100443876A>T	ENST00000395996.1	+	22	3305	c.3194A>T	c.(3193-3195)aAg>aTg	p.K1065M	VPS13B_ENST00000358544.2_Missense_Mutation_p.K1065M|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1065M			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1065					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGCAGTGAAGCATCTCACA	0.303000													15	64					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184296225	184296225	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:184296225C>T	ENST00000330394.2	+	9	2224	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	591						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)			GGCTCTGATTCGGAGTACACG	0.627000													29	68					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53560975	53560975	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:53560975G>A	ENST00000342160.3	-	82	13472	c.13015C>T	c.(13015-13017)Cac>Tac	p.H4339Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4339	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCATGTGTGAGCTGAAGGC	0.483000													24	39					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577000													4	4					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75283661	75283661	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:75283661A>G	ENST00000325680.7	+	14	5837	c.5713A>G	c.(5713-5715)Atg>Gtg	p.M1905V	YLPM1_ENST00000552421.1_Missense_Mutation_p.M1199V|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1670V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1710	Involved in interaction with PPP1CA (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGAAGCTGAGATGGAGGAGAC	0.398000													9	36					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588792	33588792	+	Splice_Site	SNP	C	C	T	rs147239130	by1000genomes	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:33588792C>T	ENST00000262873.7	+	39	5524	c.5430_splice	c.e39-1	p.A1811_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1769						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCCAACAGGCGGCCATGATG	0.632000													29	96					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72234072	72234072	+	Silent	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:72234072A>C	ENST00000340726.3	-	6	954	c.315T>G	c.(313-315)acT>acG	p.T105T	EYA1_ENST00000388741.2_Silent_p.T71T|EYA1_ENST00000419131.1_Silent_p.T105T|EYA1_ENST00000388740.3_Silent_p.T72T|EYA1_ENST00000388743.2_Silent_p.T104T|EYA1_ENST00000388742.4_Silent_p.T105T|EYA1_ENST00000303824.7_Silent_p.T104T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	105					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCAGCCATAGTTTGTGAGG	0.463000													37	109					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142384	54142384	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:54142384C>T	ENST00000265572.3	-	4	913	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D117N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D206N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	206					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TCAATGACATCGACGTCTGGA	0.423000													9	45					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113921438	113921438	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:113921438T>C	ENST00000348367.4	-	15	1678	c.1481A>G	c.(1480-1482)tAc>tGc	p.Y494C	GPAM_ENST00000369425.1_Missense_Mutation_p.Y494C|GPAM_ENST00000423155.1_Missense_Mutation_p.Y494C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	494					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CCTGTGTCTGTAGAGGAGCAG	0.463000													14	32					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31355514	31355514	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:31355514T>C	ENST00000460581.2	+	9	1683	c.1137T>C	c.(1135-1137)gaT>gaC	p.D379D	RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.D491D|COCH_ENST00000475087.1_Silent_p.D491D|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Silent_p.D491D|COCH_ENST00000382493.4_Silent_p.D342D			O43405	COCH_HUMAN	cochlin	491	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGCACATGATGCAGGTAAGG	0.408000													39	51					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15220102	15220102	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:15220102C>T	ENST00000342784.2	+	2	355	c.324C>T	c.(322-324)ggC>ggT	p.G108G	SYDE1_ENST00000600440.1_Silent_p.G41G|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	108	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGCCCGCCGGCGAGATCTGGT	0.692000													13	13					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95457426	95457426	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:95457426T>C	ENST00000324972.6	+	5	616	c.423T>C	c.(421-423)ctT>ctC	p.L141L	DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Silent_p.L124L|DYNC1I1_ENST00000447467.2_Silent_p.L124L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	141					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACTCAGAACTTGGGTATATGT	0.438000													64	141					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48584569	48584569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr18:48584569C>T	ENST00000342988.3	+	6	1280	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q248*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	248					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.Q248*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGCCAGGACAGCAGCAGAA	0.438000													18	29					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238165	31238165	+	Silent	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:31238165C>A	ENST00000383329.3	-	4	731	c.717G>T	c.(715-717)ctG>ctT	p.L239L	HLA-C_ENST00000376228.5_Silent_p.L239L			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	239	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGCCAGGTCAGTGTGATCT	0.637000													7	23					1.56452e-12	1.70359e-12	1	1	0
KIF3C	3797	broad.mit.edu	37	2	26204611	26204611	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:26204611G>A	ENST00000264712.3	-	1	755	c.176C>T	c.(175-177)aCc>aTc	p.T59I	KIF3C_ENST00000405914.1_Missense_Mutation_p.T59I	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	59	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTCAAAGGTGAAGGTCTT	0.632000													27	72					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814693	30814693	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:30814693G>A	ENST00000313401.3	+	2	744	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	19					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCTGTTTGAGGATGGCGCGGC	0.672000													11	37					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138943235	138943235	+	Splice_Site	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138943235A>G	ENST00000288561.8	+	4	665	c.414_splice	c.e4-1	p.Y139_splice	UBN2_ENST00000473989.2_Splice_Site_p.Y222_splice	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	222										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTAATCTAGTATGATGAATTA	0.358000													33	77					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51580580	51580580	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:51580580A>G	ENST00000452682.1	+	4	466	c.214A>G	c.(214-216)Ata>Gta	p.I72V	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.I56V|NCOA4_ENST00000374087.4_Missense_Mutation_p.I56V|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.I56V|NCOA4_ENST00000438493.1_Missense_Mutation_p.I72V|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000443446.1_Missense_Mutation_p.I56V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	56					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCACAGTTGCATAAGCCGTCA	0.423000			T	RET	papillary thyroid								39	84					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125642364	125642364	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:125642364A>G	ENST00000373670.1	-	6	1601	c.1001T>C	c.(1000-1002)tTg>tCg	p.L334S	RC3H2_ENST00000357244.2_Missense_Mutation_p.L334S|RC3H2_ENST00000373665.2_Missense_Mutation_p.L334S|RC3H2_ENST00000335387.5_Missense_Mutation_p.L334S|RC3H2_ENST00000423239.2_Missense_Mutation_p.L334S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	334						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACAATTGTCAATTCCTGGAC	0.388000													58	84					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271635	1271635	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:1271635C>T	ENST00000378888.5	-	15	2259	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	DVL1_ENST00000378891.5_Missense_Mutation_p.G634R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	659					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGGTCCCCCGGGTGGCCCC	0.716000													4	6					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234601437	234601437	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:234601437T>A	ENST00000040877.1	-	5	1265	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	422					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCGCATCCATTAATGGTCCaa	0.303000													5	26					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522000													4	129					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39500156	39500156	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:39500156G>A	ENST00000518318.2	+	9	1455	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	POU6F2_ENST00000559001.1_Silent_p.T416T|POU6F2_ENST00000403058.1_Silent_p.T471T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	471					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCCTCAAACGGCAGCGGGTG	0.468000													6	25					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157646	50157646	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:50157646G>A	ENST00000360565.3	+	8	3481	c.3357G>A	c.(3355-3357)gcG>gcA	p.A1119A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1119					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCAACCTGGCGAGCCGAGCGA	0.602000													13	43					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576265	33576265	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:33576265T>A	ENST00000504830.1	-	19	4201	c.3866A>T	c.(3865-3867)gAt>gTt	p.D1289V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1204V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1289	Spacer 2.				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						ACTTGTTGCATCCTCCTCAGT	0.488000										HNSCC(64;0.19)			94	212					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219925177	219925177	+	Silent	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:219925177G>T	ENST00000295731.5	-	1	12	c.13C>A	c.(13-15)Cgg>Agg	p.R5R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	5					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGGAGCCGGGCGGGAGAC	0.776000													9	7					1.12685e-05	1.15837e-05	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34371652	34371652	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:34371652G>A	ENST00000297625.7	-	2	1413	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	430					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTAGCACCGCGCCGATGCCGT	0.677000													10	7					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760995	119760995	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:119760995C>T	ENST00000304661.5	-	2	265	c.27G>A	c.(25-27)ttG>ttA	p.L9L	C1GALT1C1_ENST00000371313.2_Silent_p.L9L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	9						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCACACCCTTCAAAAAGGAGC	0.343000													36	117					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24305861	24305861	+	Silent	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24305861A>T	ENST00000238721.4	-	2	1154	c.300T>A	c.(298-300)acT>acA	p.T100T	TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000335934.4_Silent_p.T100T|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Silent_p.T100T|TP53I3_ENST00000313482.4_Silent_p.T100T	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	100					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGGACAGTGACGTACT	0.647000													11	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047449	160047449	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:160047449G>T	ENST00000327245.5	-	15	3167	c.2321C>A	c.(2320-2322)tCt>tAt	p.S774Y	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	774					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAACCACAGACATTCTCTT	0.602000													6	23					3.59834e-05	3.64797e-05	1	1	0
MORC1	27136	broad.mit.edu	37	3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:108819312C>T	ENST00000232603.5	-	5	348	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398000													42	99					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4101229	4101229	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:4101229C>T	ENST00000262948.5	-	5	831	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	MAP2K2_ENST00000394867.4_Missense_Mutation_p.R96Q|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	193	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTACCTCGGTGCATGAT	0.697000													3	15					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176557	57176557	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:57176557G>T	ENST00000537055.2	-	2	241	c.10C>A	c.(10-12)Ctc>Atc	p.L4I		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCTCAAGAGTCCCTCCATC	0.502000													12	33					6.31663e-08	6.63246e-08	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20497952	20497952	+	Silent	SNP	G	G	A	rs1054980		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497952G>A	ENST00000573854.1	+	14	1800	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	ACSM2A_ENST00000536134.1_Silent_p.K334K|ACSM2A_ENST00000575690.1_Silent_p.K562K|ACSM2A_ENST00000417235.2_Silent_p.K483K|ACSM2A_ENST00000396104.2_Silent_p.K562K|ACSM2A_ENST00000219054.6_Silent_p.K562K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	562					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACGAGCCAAGCTTCGAGACA	0.468000													35	196					0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1912891	1912891	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:1912891G>A	ENST00000329478.2	+	2	1065	c.845G>A	c.(844-846)cGt>cAt	p.R282H	ADAT3_ENST00000602400.1_Missense_Mutation_p.R266H|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	266					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGTGCGTAAACTGGAC	0.731000													17	24					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139649881	139649881	+	Missense_Mutation	SNP	C	C	T	rs138766179		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:139649881C>T	ENST00000371688.3	-	4	609	c.314G>A	c.(313-315)cGc>cAc	p.R105H	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	128					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTTGAGGACGCGAAAGTTCCT	0.657000													8	15					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203164	8203164	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:8203164G>A	ENST00000600128.1	-	10	1476	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	FBN3_ENST00000601739.1_Silent_p.P354P|FBN3_ENST00000270509.2_Silent_p.P354P			Q75N90	FBN3_HUMAN	fibrillin 3	354						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						CAGGGTGGCCGGGTAGCAGCG	0.672000													8	11					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77977406	77977406	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:77977406T>C	ENST00000237654.4	-	4	890	c.314A>G	c.(313-315)gAt>gGt	p.D105G	CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Missense_Mutation_p.D91G	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	105					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TATTACCTCATCTTCCTCAAC	0.333000													18	62					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47841505	47841505	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:47841505A>G	ENST00000371764.4	+	5	592	c.583A>G	c.(583-585)Aag>Gag	p.K195E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	195	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGGATCGGAAGAAGAAGAA	0.463000													26	45					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63557245	63557245	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:63557245A>T	ENST00000374852.3	-	9	1071	c.1004T>A	c.(1003-1005)tTa>tAa	p.L335*	MTMR8_ENST00000453546.1_Nonsense_Mutation_p.L335*|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	335	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACAATGGACTAAGACACTGGC	0.453000													13	48					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497947	20497947	+	Missense_Mutation	SNP	G	G	A	rs1054977		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497947G>A	ENST00000573854.1	+	14	1795	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ACSM2A_ENST00000536134.1_Missense_Mutation_p.A333T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A561T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A482T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A561T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A561T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	561			A -> T (in dbSNP:rs1054977).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AATTCAACGAGCCAAGCTTCG	0.473000													34	195					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1031902	1031902	+	Silent	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1031902G>C	ENST00000421673.2	-	3	317	c.267C>G	c.(265-267)ggC>ggG	p.G89G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	89	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCGTCTGGGCCTCGCCGCA	0.622000													4	47					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37329378	37329378	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:37329378T>C	ENST00000231498.3	-	16	1930	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	NUP155_ENST00000513532.1_Missense_Mutation_p.Y576C|NUP155_ENST00000381843.2_Missense_Mutation_p.Y517C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	576					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACCACCATACCTATTTTT	0.398000													15	39					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155152405	155152405	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:155152405C>A	ENST00000368382.1	+	8	1651	c.1514C>A	c.(1513-1515)gCa>gAa	p.A505E	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.A528E|TRIM46_ENST00000334634.4_Missense_Mutation_p.A528E|TRIM46_ENST00000368383.3_Missense_Mutation_p.A528E|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A402E|TRIM46_ENST00000543729.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	528	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGCCCCCGGCACCTGGTGAG	0.647000													8	18					1.12685e-05	1.15837e-05	1	1	0
ELMO3	79767	broad.mit.edu	37	16	67237408	67237408	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67237408T>C	ENST00000393997.2	+	19	2088	c.2031T>C	c.(2029-2031)taT>taC	p.Y677Y	ELMO3_ENST00000477898.1_Silent_p.Y511Y|ELMO3_ENST00000360833.1_Silent_p.Y660Y	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	624					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGACCTCTATGAGTTGGCCT	0.637000													13	35					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						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						AACATTAGGCGAGCTTCCTGG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			80	97					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22191370	22191370	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:22191370C>T	ENST00000374695.3	-	36	4671	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1531	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCGGGCAGCGGCACTCCTC	0.682000													4	13					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318814	67318814	+	Missense_Mutation	SNP	C	C	T	rs138070673	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67318814C>T	ENST00000360461.5	+	12	4426	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R631W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R550W|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R631W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	631					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R631W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCTGGGCGCGGTGCCAGGA	0.667000													8	22					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59359272	59359272	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:59359272A>G	ENST00000348370.4	+	6	2109	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	RNF111_ENST00000559209.1_Missense_Mutation_p.Y559C|RNF111_ENST00000561186.1_Missense_Mutation_p.Y559C|RNF111_ENST00000434298.1_Missense_Mutation_p.Y559C|RNF111_ENST00000557998.1_Missense_Mutation_p.Y559C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	559					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGTACCAGCTATCATGAACAG	0.473000													19	64					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111643888	111643888	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:111643888C>T	ENST00000502935.1	-	9	886	c.767G>A	c.(766-768)gGa>gAa	p.G256E	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G142E|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G256E|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G213E|XPNPEP1_ENST00000430337.1_5'UTR			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	213					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CACATCTGATCCTCGGAGATT	0.463000											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	91					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	877870	877870	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:877870C>T	ENST00000314167.4	-	12	1320	c.1210G>A	c.(1210-1212)Gca>Aca	p.A404T	GAK_ENST00000511163.1_Missense_Mutation_p.A325T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	404	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCACCCTTTGCATAACTGGAA	0.532000													11	51					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24233325	24233325	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:24233325G>C	ENST00000382263.3	+	6	766	c.582G>C	c.(580-582)aaG>aaC	p.K194N	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.K62N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	194					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTATTGTAAGAGACAGTTTA	0.512000													27	55					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019596	123019596	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:123019596T>C	ENST00000371199.3	+	2	383	c.84T>C	c.(82-84)aaT>aaC	p.N28N	XIAP_ENST00000434753.3_Silent_p.N28N|XIAP_ENST00000355640.3_Silent_p.N28N|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	28					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAGAGTTTAATAGATTAAAAA	0.368000									X-linked Lymphoproliferative syndrome				57	169					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93301939	93301939	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:93301939A>G	ENST00000370321.3	+	5	607	c.517A>G	c.(517-519)Atc>Gtc	p.I173V		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	173					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGGCTTGTCTATCCCTCACAG	0.468000													24	53					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984482	72984482	+	Silent	SNP	G	G	A	rs150708280	by1000genomes	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:72984482G>A	ENST00000268489.5	-	3	3774	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I	ZFHX3_ENST00000397992.5_Silent_p.I120I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1034					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGTTGCCGATGGCCACAC	0.612000													20	49					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696830	38696830	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:38696830T>C	ENST00000396832.1	-	5	724	c.464A>G	c.(463-465)aAg>aGg	p.K155R	CSNK1E_ENST00000413574.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000405675.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000403904.1_Missense_Mutation_p.K155R|CSNK1E_ENST00000400206.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000359867.3_Missense_Mutation_p.K155R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	155	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTCCCGGTACTTCTTGGCCAG	0.597000													41	89					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2318556	2318556	+	RNA	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:2318556T>A	ENST00000571332.1	-	0	823					NR_028335.1																						ACCAGAAACATAAGGGGAGAC	0.567000													104	63					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13544481	13544481	+	Splice_Site	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:13544481G>A	ENST00000295757.3	+	8	832		c.e8+1		HDAC11_ENST00000446613.2_Splice_Site|HDAC11_ENST00000404040.1_Splice_Site|HDAC11_ENST00000522202.1_Splice_Site|HDAC11_ENST00000402271.1_Splice_Site|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000433119.1_Splice_Site|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Splice_Site|HDAC11_ENST00000404548.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTTGCCAAGCGTAAGCTGCTG	0.572000													42	50					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132440088	132440088	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:132440088C>T	ENST00000304858.2	+	19	2772	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	828					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	p.S828L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGTGCCTTCGGATTCAGAC	0.438000													25	53					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418852	113418852	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113418852A>T	ENST00000297405.5	-	35	5954	c.5710T>A	c.(5710-5712)Tgt>Agt	p.C1904S	CSMD3_ENST00000343508.3_Missense_Mutation_p.C1864S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1800S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1834S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1904	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						CCTGGATTACAATCAAAAAGA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			85	88					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133296	64133296	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:64133296T>C	ENST00000295902.6	-	7	1455	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRICKLE2_ENST00000564377.1_Silent_p.K346K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	290	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGGAGGGATTTCTTGCAGT	0.532000													26	42					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959587	70959587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:70959587G>A	ENST00000322954.6	-	16	3621	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	UACA_ENST00000379983.2_Nonsense_Mutation_p.Q1133*|UACA_ENST00000560441.1_Nonsense_Mutation_p.Q1131*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q1037*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1146						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTGCTGCTCTTTCTCG	0.398000													9	228					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138344	124138344	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:124138344A>G	ENST00000287380.1	+	12	1709	c.1619A>G	c.(1618-1620)aAt>aGt	p.N540S	TBC1D31_ENST00000378080.2_Missense_Mutation_p.N435S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.N435S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.N173S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.N417S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.N540S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.N540S	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CCTCCTATCAATATTCTTAGC	0.328000													39	99					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492249	78492249	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:78492249C>A	ENST00000377211.4	-	2	882	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	EDNRB_ENST00000334286.5_Missense_Mutation_p.D154Y|EDNRB_ENST00000446573.1_Missense_Mutation_p.D154Y	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	154			T -> M (in dbSNP:rs5350).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATAGGGATGTCAATGACGATG	0.507000													34	75					1.57351e-24	1.7657e-24	1	1	0
HPRT1	3251	broad.mit.edu	37	X	133620520	133620520	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:133620520A>G	ENST00000298556.7	+	4	503	c.344A>G	c.(343-345)aAa>aGa	p.K115R	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	115					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	GGGGACATAAAAGTAATTGGT	0.308000													11	30					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855787	140855787	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:140855787A>T	ENST00000308177.3	+	1	208	c.104A>T	c.(103-105)tAt>tTt	p.Y35F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCACTATGAGATCCCG	0.587000													39	81					0	0	1	0	0
RP11-782C8.1	0	broad.mit.edu	37	1	143211637	143211639	+	RNA	DEL	TTC	TTC	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:143211637_143211639delTTC	ENST00000438000.1	+	0	59																											TCCTTTCTAATTCTTCTCTATTT	0.286													8	20	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452464	43452465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:43452464_43452465insG	ENST00000282388.3	-	2	771_772	c.478_479insC	c.(478-480)gccfs	p.A160fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	160					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649													14	32	---	---	---	---					
DYNC1I2	1781	broad.mit.edu	37	2	172569318	172569319	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:172569318_172569319insC	ENST00000534253.2	+	6	545_546	c.377_378insC	c.(376-378)ctcfs	p.L126fs	DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000340296.4_Intron			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	126					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTTCAGCTTCACTCAGATTCCG	0.361													47	129	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153332540	153332558	+	Frame_Shift_Del	DEL	TGTGTATGTTCATCTTCTC	TGTGTATGTTCATCTTCTC	-	rs61748169	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:153332540_153332558delTGTGTATGTTCATCTTCTC	ENST00000281708.4	-	2	1627_1645	c.398_416delGAGAAGATGAACATACACA	c.(397-417)atfs	p.REDEHTH133fs	FBXW7_ENST00000603548.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000604872.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.REDEHTH133fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	133			R -> G (in dbSNP:rs6842544).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.H139N(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTTAGTATGTGTATGTTCATCTTCTCTGCTACTATC	0.434			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	68	---	---	---	---					
HNRNPH1	3187	broad.mit.edu	37	5	179046282	179046286	+	Frame_Shift_Del	DEL	CTTTC	CTTTC	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:179046282_179046286delCTTTC	ENST00000356731.5	-	4	2055_2059	c.520_524delGAAAG	c.(520-525)afs	p.ER174fs	HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.ER174fs			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	174	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GTGCCCTATTCTTTCCTTGTGTTTC	0.429													58	262	---	---	---	---					
KATNA1	11104	broad.mit.edu	37	6	149925823	149925824	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:149925823_149925824delTA	ENST00000367411.2	-	5	854_855	c.596_597delTA	c.(595-597)afs	p.I200fs	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000335647.5_Frame_Shift_Del_p.I200fs	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	200					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCTGGGAAATTATATCTCTTTC	0.371													36	104	---	---	---	---					
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337													2	4	---	---	---	---					
DUSP8	1850	broad.mit.edu	37	11	1585103	1585103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1585103delG	ENST00000397374.3	-	3	475	c.348delC	c.(346-348)ttfs	p.F116fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.F116fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	116	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCACGCTGTCGAAGCAGCCGT	0.672													2	4	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56222200	56222201	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:56222200_56222201insG	ENST00000357606.3	-	3	531_532	c.242_243insC	c.(241-243)cggfs	p.R81fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R81fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R81fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	81					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAGGTGGTCCTGGACCCCCTGG	0.559													76	188	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450686	23450687	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:23450686_23450687insAG	ENST00000262713.2	-	1	1164_1165	c.789_790insCT	c.(787-792)tctgacfs	p.D264fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.D264fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	264	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TAGCCGGTCACAGAGTGTCGTC	0.728													14	11	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													2	4	---	---	---	---					
COX11	1353	broad.mit.edu	37	17	53042103	53042104	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:53042103_53042104insTG	ENST00000299335.3	-	2	614_615	c.476_477insCA	c.(475-477)cgcfs	p.R159fs	COX11_ENST00000571584.1_Frame_Shift_Ins_p.R159fs	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	159					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGACTTGCATGCACATCTGC	0.361													35	105	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39006732	39006732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:39006732delG	ENST00000355481.4	+	65	9691	c.9560delG	c.(9559-9561)cgfs	p.R3187fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.R3187fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.R3187fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3187					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGCTTCGGCCAGCCCTC	0.657													2	4	---	---	---	---					
NF2	4771	broad.mit.edu	37	22	30038273	30038299	+	Splice_Site	DEL	AGGTAGGCTCAAAGAAGAAAAATGTAT	AGGTAGGCTCAAAGAAGAAAAATGTAT	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT	ENST00000338641.4	+	4	887_888	c.447_splice	c.e4+1	p.149_splice	NF2_ENST00000361452.4_Splice_Site_p.108_splice|NF2_ENST00000403999.3_Splice_Site_p.149_splice|NF2_ENST00000397789.3_Splice_Site_p.149_splice|NF2_ENST00000353887.4_Splice_Site_p.66_splice|NF2_ENST00000403435.1_Splice_Site_p.149_splice|NF2_ENST00000361676.4_Splice_Site_p.107_splice|NF2_ENST00000347330.5_Splice_Site_p.66_splice|NF2_ENST00000334961.7_Splice_Site_p.66_splice|NF2_ENST00000361166.4_Splice_Site_p.149_splice|NF2_ENST00000413209.2_Splice_Site_p.149_splice	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	149	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(5)|p.K149N(1)|p.K149fs*25(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGG	0.449			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				7	61	---	---	---	---					
KIF4A	24137	broad.mit.edu	37	X	69519024	69519024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:69519024delT	ENST00000374403.3	+	5	570	c.488delT	c.(487-489)aafs	p.I163fs	KIF4A_ENST00000374388.3_Frame_Shift_Del_p.I163fs	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	163	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAATAAATATACGAGAGGAT	0.308													27	70	---	---	---	---					
