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
COG8	84342	broad.mit.edu	37	16	69369095	69369095	+	Missense_Mutation	SNP	G	G	A	rs138362078		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:69369095G>A	ENST00000306875.4	-	3	856	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.L123F|COG8_ENST00000562081.1_Missense_Mutation_p.L248F	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	248					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CGGGCCTGAAGAAACTTCACC	0.542000													6	46					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50287704	50287704	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:50287704G>A	ENST00000338821.5	-	12	1394	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	ATP9A_ENST00000311637.5_Missense_Mutation_p.T241M|ATP9A_ENST00000402822.1_Missense_Mutation_p.T256M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	377					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCAGGAATCGTGCTGGAGCG	0.557000													9	51					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155295191	155295191	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:155295191G>T	ENST00000368352.5	+	5	1769	c.1618G>T	c.(1618-1620)Gcg>Tcg	p.A540S	RUSC1_ENST00000368347.4_Missense_Mutation_p.A130S|RUSC1_ENST00000368349.4_Missense_Mutation_p.A71S|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.A540S|RUSC1_ENST00000292254.4_Missense_Mutation_p.A71S	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	540	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGCCCTGGTGGCGGACGGGCT	0.701000											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	16					1.06961e-07	1.28501e-07	1	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60344525	60344525	+	RNA	SNP	G	G	A	rs72488592	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:60344525G>A	ENST00000581291.1	-	0	979																				breast(2)|kidney(1)|lung(2)	5						TTTTGTTATCGGCATGAACGC	0.607000													9	216					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149919242	149919242	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:149919242C>T	ENST00000445323.2	+	14	1728	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	MTMR1_ENST00000544228.1_Missense_Mutation_p.T528I|MTMR1_ENST00000370390.3_Missense_Mutation_p.T528I|MTMR1_ENST00000538506.1_Missense_Mutation_p.T353I|MTMR1_ENST00000541925.1_Missense_Mutation_p.T434I|MTMR1_ENST00000451863.2_Missense_Mutation_p.T528I			Q13613	MTMR1_HUMAN	myotubularin related protein 1	528	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTGATTACAATTTTGGAT	0.353000													46	86					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36852029	36852029	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:36852029G>T	ENST00000279024.4	-	9	2450	c.2179C>A	c.(2179-2181)Cct>Act	p.P727T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	727										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGGAAAGGGTCCAGCTTC	0.617000													4	36					0.00909568	0.00930907	1	1	0
PRDM11	56981	broad.mit.edu	37	11	45204498	45204498	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:45204498G>T	ENST00000263765.4	+	5	661	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	PRDM11_ENST00000424263.2_Missense_Mutation_p.G104C|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.G138C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	138										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGTGCCCGTGGGCATCCCAGA	0.602000													28	44					2.36697e-06	2.70401e-06	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93717918	93717918	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:93717918C>A	ENST00000334746.5	-	8	2140	c.1833G>T	c.(1831-1833)acG>acT	p.T611T	BTBD7_ENST00000393170.2_Silent_p.T185T|BTBD7_ENST00000554565.1_Silent_p.T260T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	611										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCATGTAGAGCGTGTCTGGCA	0.478000													64	172					4.46356e-37	8.60653e-37	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34102010	34102010	+	Missense_Mutation	SNP	A	A	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:34102010A>C	ENST00000373381.4	-	30	5095	c.4919T>G	c.(4918-4920)cTg>cGg	p.L1640R	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.L513R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1600	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCAGGCCCCAGGATGCAGCT	0.652000													5	33					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6357394	6357394	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:6357394G>T	ENST00000344683.5	+	12	2234	c.2158G>T	c.(2158-2160)Ggt>Tgt	p.G720C	ANGPT2_ENST00000325203.5_3'UTR|ANGPT2_ENST00000415216.1_3'UTR	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	720	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTTAGAATTGGGTCACTGGAT	0.423000													32	78					1.08052e-11	1.49052e-11	1	1	0
NID2	22795	broad.mit.edu	37	14	52496397	52496397	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:52496397G>T	ENST00000216286.5	-	10	2268	c.2269C>A	c.(2269-2271)Ccc>Acc	p.P757T	NID2_ENST00000541773.1_Missense_Mutation_p.P704T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	757	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCGGAGTGGGGTCTGAATCC	0.512000													4	41					0.150653	0.15174	1	1	0
MLLT10	8028	broad.mit.edu	37	10	21962689	21962689	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:21962689G>T	ENST00000377072.3	+	11	1810	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	MLLT10_ENST00000307729.7_Nonsense_Mutation_p.E488*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.E488*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.E488*	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	488	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAAAATCAAGAGAATGTTTC	0.403000			T	"""MLL, PICALM, CDK6"""	AL								17	102					0.00074312	0.000785906	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84234113	84234113	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:84234113A>T	ENST00000536636.1	+	3	1298	c.953A>T	c.(952-954)gAt>gTt	p.D318V	PRSS35_ENST00000369700.3_Missense_Mutation_p.D318V	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	318	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GATAGGGCTGATCAGTTGGTC	0.473000													44	56					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139702136	139702136	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:139702136G>T	ENST00000338005.6	+	14	1634	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	533	Poly-Lys.									biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAAAAAGAAGAAGTAGCCCC	0.617000													5	13					3.59834e-05	3.94912e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113363405	113363405	+	Splice_Site	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:113363405T>A	ENST00000297405.5	-	40	6568	c.6325_splice	c.e40+1	p.L2108_splice	CSMD3_ENST00000352409.3_Splice_Site_p.L2038_splice|CSMD3_ENST00000455883.2_Splice_Site_p.L2004_splice|CSMD3_ENST00000343508.3_Splice_Site_p.L2068_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2108	Sushi 11.					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						TTAACTTACCTAAACAAATTG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	91					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912146	100912146	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:100912146G>T	ENST00000328766.5	-	5	882	c.429C>A	c.(427-429)ccC>ccA	p.P143P	ARMCX2_ENST00000356824.4_Silent_p.P143P|ARMCX2_ENST00000330154.2_Silent_p.P143P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	143	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTGTCACCCCGGGAGGTGGTG	0.642000													11	89					4.68919e-08	5.72212e-08	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103063530	103063530	+	Splice_Site	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:103063530T>A	ENST00000264260.2	+	10	1662	c.1072_splice	c.e10-1	p.V358_splice	IL18RAP_ENST00000409369.1_Splice_Site_p.V216_splice	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	358					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTCTCCACAGTGGTGCTCCTG	0.602000													75	190					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280236	43280236	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:43280236C>A	ENST00000512796.1	+	4	2215	c.716C>A	c.(715-717)cCt>cAt	p.P239H	NIM1_ENST00000326035.2_Missense_Mutation_p.P239H			Q8IY84	NIM1_HUMAN		239	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TACGCTGCGCCTGAACTCTTC	0.502000													34	100					2.75727e-19	4.46537e-19	1	1	0
DACH2	117154	broad.mit.edu	37	X	85994885	85994885	+	Splice_Site	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:85994885G>A	ENST00000373131.1	+	6	1364	c.1201_splice	c.e6+1	p.E401_splice	DACH2_ENST00000508860.1_Splice_Site_p.E247_splice|DACH2_ENST00000373125.4_Splice_Site_p.E414_splice|DACH2_ENST00000510272.1_Splice_Site_p.E195_splice|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAAAGAATGGGTGAGTAACT	0.448000													5	20					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7706913	7706913	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:7706913G>A	ENST00000338316.4	+	8	1255	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	ADCY2_ENST00000537121.1_Missense_Mutation_p.G209E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	389					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTGCATTCTGGGAATGTCCTG	0.498000													49	153					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514333	70514333	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:70514333G>T	ENST00000377844.4	-	4	1612	c.853C>A	c.(853-855)Ctt>Att	p.L285I	KLHL1_ENST00000545028.1_Missense_Mutation_p.L92I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	285					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAGCAAGAAGGTTCTCAATG	0.393000													9	18					1.12685e-05	1.26454e-05	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238277615	238277615	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:238277615G>T	ENST00000295550.4	-	10	4943	c.4491C>A	c.(4489-4491)gcC>gcA	p.A1497A	COL6A3_ENST00000347401.3_Silent_p.A1296A|COL6A3_ENST00000353578.4_Silent_p.A1291A|COL6A3_ENST00000409809.1_Silent_p.A1291A|COL6A3_ENST00000472056.1_Silent_p.A890A|COL6A3_ENST00000346358.4_Silent_p.A1297A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1497	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGCACCGGGGCCTGGGATC	0.537000													16	57					1.5739e-10	2.10456e-10	1	1	0
NYAP1	222950	broad.mit.edu	37	7	100085919	100085919	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:100085919C>T	ENST00000423930.1	+	4	734	c.575C>T	c.(574-576)cCt>cTt	p.P192L	NYAP1_ENST00000454988.1_Missense_Mutation_p.P135L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P192L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	192																	GGGAACCTGCCTCTTCAGCGC	0.632000													15	215					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855203	42855203	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:42855203G>A	ENST00000200557.6	+	23	2211	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E	ADAM11_ENST00000535346.1_Missense_Mutation_p.G481E	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	681	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCGGCAGTGGGGAGCGCCGG	0.642000													17	41					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984330	85984330	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:85984330G>A	ENST00000372113.4	-	2	656	c.651C>T	c.(649-651)tcC>tcT	p.S217S	LRIT2_ENST00000538192.1_Silent_p.S217S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	217	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGAGGGTAATGGACTTGACAA	0.542000													14	51					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241667486	241667486	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:241667486C>A	ENST00000366560.3	-	7	1002	c.964G>T	c.(964-966)Gtt>Ttt	p.V322F		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	322					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTGAGCTCAACCAGAGCGTCA	0.448000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				13	70					7.03913e-09	8.93329e-09	1	1	0
PHEX	5251	broad.mit.edu	37	X	22065263	22065263	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:22065263C>A	ENST00000379374.4	+	3	848	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.P95T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	95					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAATCCAATTCCCGAAGATAT	0.413000													24	92					1.22574e-08	1.54156e-08	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	26					0.004672	0.00483836	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63072194	63072194	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:63072194G>A	ENST00000332793.6	+	9	1433	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	477						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGCTAGTAGGATTGGAGCAG	0.383000													57	152					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961846	34961846	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:34961846C>G	ENST00000329357.5	+	1	934	c.898C>G	c.(898-900)Cct>Gct	p.P300A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	300	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGGAGCCTCCTGAGACTGG	0.632000													73	88					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44160431	44160431	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:44160431C>G	ENST00000372396.3	+	18	2670	c.2536C>G	c.(2536-2538)Cag>Gag	p.Q846E		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	846					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTGCTGTGTGCAGTGTTCTCA	0.547000													28	95					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883687	52883687	+	Missense_Mutation	SNP	T	T	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:52883687T>G	ENST00000343457.3	-	1	99	c.93A>C	c.(91-93)ttA>ttC	p.L31F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	31						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAGAATTGAATAAAATATTGC	0.333000													5	38					0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21058502	21058502	+	Translation_Start_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:21058502C>A	ENST00000335950.4	-	0	194				RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE12_ENST00000556526.1_Missense_Mutation_p.E127D|RP11-14J7.6_ENST00000554529.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)							extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAACAAACCCCTCTGTGGGGG	0.453000													28	66					1.39806e-14	2.10765e-14	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38198824	38198824	+	Missense_Mutation	SNP	C	C	T	rs144365488		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:38198824C>T	ENST00000355202.4	-	4	821	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ZNF607_ENST00000395835.3_Missense_Mutation_p.E75K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTGTACACTCTCCTCTTGTT	0.443000													38	73					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520882	33520882	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:33520882G>T	ENST00000297307.5	-	1	530	c.445C>A	c.(445-447)Ctt>Att	p.L149I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	149	DUF6 1.					integral to membrane											TGGCTCTCAAGGCAGAGAGTG	0.582000													79	144					5.04879e-28	9.29829e-28	1	1	0
AQP7	364	broad.mit.edu	37	9	33387000	33387000	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:33387000T>A	ENST00000539936.1	-	4	473	c.235A>T	c.(235-237)Acc>Tcc	p.T79S	AQP7_ENST00000537089.1_Intron|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.T22S			O14520	AQP7_HUMAN	aquaporin 7	79					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACTCCCATGGTGACTCCGAAG	0.572000													15	182					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265425	75265425	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:75265425G>T	ENST00000325680.7	+	5	3549	c.3425G>T	c.(3424-3426)aGg>aTg	p.R1142M	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R947M	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	947	Arg-rich.				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)		GCTGGGAGCAGGGAGAGAGGA	0.587000													7	37					0.00307968	0.00322281	1	1	0
TCN1	6947	broad.mit.edu	37	11	59623394	59623394	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:59623394C>A	ENST00000257264.3	-	6	989	c.885G>T	c.(883-885)atG>atT	p.M295I	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	295					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTCTTTCCCATCAGGGCAG	0.453000													40	104					9.85521e-28	1.80077e-27	1	1	0
SELP	6403	broad.mit.edu	37	1	169566383	169566383	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:169566383C>G	ENST00000263686.6	-	11	1774	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.E517D|SELP_ENST00000367794.2_Missense_Mutation_p.E517D|SELP_ENST00000367786.2_Missense_Mutation_p.E517D|SELP_ENST00000367793.2_Missense_Mutation_p.E517D|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	579	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGCTGCCCTGCTCTGGGGCAA	0.463000													16	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501219	179501219	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:179501219G>T	ENST00000589042.1	-	225	41459	c.41235C>A	c.(41233-41235)atC>atA	p.I13745I	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.I4872I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I12104I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I4680I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I11177I|TTN_ENST00000359218.5_Silent_p.I4805I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12104	Ig-like 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACATCAATGATGTGCAGCT	0.423000													22	82					3.62473e-10	4.74683e-10	1	1	0
IGHV4-28	28400	broad.mit.edu	37	14	106780678	106780678	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:106780678C>A	ENST00000390612.2	-	0	257																											CCAGTCCCTTCCCTGGGGGCT	0.562000													17	44					3.41278e-10	4.47767e-10	1	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1													p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373000													4	47					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148558729	148558729	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:148558729C>T	ENST00000491148.1	+	6	775	c.441C>T	c.(439-441)acC>acT	p.T147T	CPB1_ENST00000282957.4_Silent_p.T147T			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	147					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTATCGGAACCACATTTGAGG	0.428000													14	162					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481977	140481977	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140481977C>G	ENST00000231130.2	+	1	1744	c.1744C>G	c.(1744-1746)Ccg>Gcg	p.P582A		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		582	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P582S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGCTGAGCCGGGCTACCT	0.701000													62	72					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211518812	211518812	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:211518812G>T	ENST00000233072.5	+	29	3740	c.3544G>T	c.(3544-3546)Ggc>Tgc	p.G1182C	CPS1_ENST00000451903.2_Missense_Mutation_p.G731C|CPS1_ENST00000430249.2_Missense_Mutation_p.G1188C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1182	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGACGCTGTTGGCAAAGATGG	0.418000													22	66					6.36457e-07	7.42888e-07	1	1	0
ZNF609	23060	broad.mit.edu	37	15	64966812	64966812	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:64966812G>T	ENST00000326648.3	+	4	1887	c.1759G>T	c.(1759-1761)Ggc>Tgc	p.G587C	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	587						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCACAAAAGGCCTCTGTAA	0.507000													22	54					3.5997e-14	5.39182e-14	1	1	0
HAS2	3037	broad.mit.edu	37	8	122626662	122626662	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:122626662G>T	ENST00000303924.4	-	4	1883	c.1346C>A	c.(1345-1347)cCc>cAc	p.P449H		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	449						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATCTTGGCGGGAAGTAAACT	0.408000													72	225					4.98926e-31	9.33647e-31	1	1	0
PAPD5	64282	broad.mit.edu	37	16	50250031	50250031	+	Silent	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:50250031C>G	ENST00000357464.3	+	5	573	c.573C>G	c.(571-573)ctC>ctG	p.L191L	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Silent_p.L270L|PAPD5_ENST00000561678.1_Silent_p.L203L			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	191					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ACCTACCCCTCTGGACTCTGG	0.428000													25	121					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585024	149585024	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:149585024C>A	ENST00000230671.2	+	13	1910	c.1539C>A	c.(1537-1539)ctC>ctA	p.L513L	SLC6A7_ENST00000524041.1_Silent_p.L513L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	513						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGCAGGCCCTCATGGTGTATA	0.607000													35	38					1.62957e-23	2.82945e-23	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189871714	189871714	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:189871714C>A	ENST00000304636.3	+	44	3423	c.3253C>A	c.(3253-3255)Cct>Act	p.P1085T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1085	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCGAGGTGCTCCTGTAAgttt	0.398000													13	44					1.5842e-08	1.98523e-08	1	1	0
RXFP1	59350	broad.mit.edu	37	4	159533320	159533320	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:159533320G>T	ENST00000307765.5	+	7	826	c.575G>T	c.(574-576)gGt>gTt	p.G192V	RXFP1_ENST00000470033.1_Missense_Mutation_p.G159V|RXFP1_ENST00000460056.2_Missense_Mutation_p.G111V|RXFP1_ENST00000448688.2_Missense_Mutation_p.G111V|RXFP1_ENST00000343542.5_Missense_Mutation_p.G192V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	192						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTGAAGCCGGGTGTTTTTGAA	0.299000													44	136					2.29192e-23	3.9598e-23	1	1	0
TTN	7273	broad.mit.edu	37	2	179451278	179451278	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:179451278A>T	ENST00000589042.1	-	308	64574	c.64350T>A	c.(64348-64350)agT>agA	p.S21450R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12577R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19809R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S12385R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S18882R|TTN_ENST00000359218.5_Missense_Mutation_p.S12510R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19809	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTGGCAAACTGACTCCAA	0.393000													31	85					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63445164	63445164	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:63445164G>A	ENST00000453546.1	-	10	1581	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ASB12_ENST00000362002.2_Missense_Mutation_p.R123C|ASB12_ENST00000396130.2_Missense_Mutation_p.R114C			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	314	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AAAAGCACACGTACACAGTCC	0.537000													11	34					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1206124	1206124	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:1206124G>A	ENST00000382952.3	-	10	1578	c.1194C>T	c.(1192-1194)caC>caT	p.H398H	CTBP1_ENST00000290921.6_Silent_p.H409H	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	409					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGGCAGGCCGTGGGACAGGG	0.697000													3	11					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475461	120475461	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:120475461C>T	ENST00000355622.6	+	3	1156	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S312F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	352					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AAACTCAAATCTCTCAAAAGG	0.353000													23	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26707466	26707466	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:26707466C>A	ENST00000272371.2	-	12	1207	c.1081G>T	c.(1081-1083)Gac>Tac	p.D361Y	OTOF_ENST00000403946.3_Missense_Mutation_p.D361Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	361					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCGGGGTCAGACAGGATG	0.602000													10	20					4.68919e-08	5.72212e-08	1	1	0
LRP1	4035	broad.mit.edu	37	12	57578153	57578153	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:57578153G>A	ENST00000243077.3	+	38	6570	c.6104G>A	c.(6103-6105)cGg>cAg	p.R2035Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2035					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGTATTGAGCGGTCTCGGCTA	0.607000													9	65					0	0	1	0	0
COLCA1	399948	broad.mit.edu	37	11	111166916	111166916	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:111166916C>A	ENST00000532918.1	-	2	2693	c.288G>T	c.(286-288)ctG>ctT	p.L96L	C11orf92_ENST00000540738.1_Silent_p.L96L|C11orf92_ENST00000355430.4_Silent_p.L96L																endometrium(1)|large_intestine(1)|lung(1)	3						AATCGCTAGCCAGCAACAGCA	0.468000													26	87					9.57634e-11	1.2904e-10	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107821201	107821201	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:107821201G>T	ENST00000328300.6	+	11	873	c.629G>T	c.(628-630)gGa>gTa	p.G210V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G210V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	210	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTCCACCAGGACTTCCAGGA	0.308000									Alport syndrome with Diffuse Leiomyomatosis				16	49					3.32936e-07	3.9057e-07	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459732	107459732	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:107459732G>A	ENST00000409382.3	-	2	1312	c.702C>T	c.(700-702)caC>caT	p.H234H	ST6GAL2_ENST00000361686.4_Silent_p.H234H|ST6GAL2_ENST00000409087.3_Silent_p.H234H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	234					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGCACCCCGTGCTTGTTGG	0.682000													6	9					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225706586	225706586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:225706586C>A	ENST00000409592.3	-	23	2691	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E866*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	866	DHR-1.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTTGGCACTCTTGGAAAAAT	0.383000													46	149					1.61004e-24	2.8523e-24	1	1	0
CCAR2	57805	broad.mit.edu	37	8	22475291	22475291	+	Splice_Site	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:22475291G>C	ENST00000308511.4	+	16	2322	c.2073_splice	c.e16+1	p.M691_splice	KIAA1967_ENST00000389279.3_Splice_Site_p.M691_splice|KIAA1967_ENST00000520861.1_Splice_Site_p.M366_splice			Q8N163	K1967_HUMAN		691					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TTCAGGACATGGTGAGGCCTC	0.557000													34	86					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188037	152188037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:152188037G>T	ENST00000368801.2	-	3	6143	c.6068C>A	c.(6067-6069)tCa>tAa	p.S2023*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2023					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTCCTGATGCAGAACC	0.552000													65	2050					2.61193e-14	3.92071e-14	1	1	0
UBN2	254048	broad.mit.edu	37	7	138921844	138921844	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:138921844G>T	ENST00000288561.8	+	2	561		c.e2+1		UBN2_ENST00000473989.2_Splice_Site	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											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						AATGAAATATGTGAGTATAAT	0.393000													76	127					7.45626e-27	1.35533e-26	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66201699	66201699	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:66201699G>T	ENST00000273854.3	-	16	3403	c.2803C>A	c.(2803-2805)Ctg>Atg	p.L935M	EPHA5_ENST00000511294.1_Missense_Mutation_p.L936M|EPHA5_ENST00000354839.4_Missense_Mutation_p.L913M|EPHA5_ENST00000432638.2_Missense_Mutation_p.L772M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	935	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTACGTATCAGCTTGTCCAAC	0.453000										TSP Lung(17;0.13)			38	105					4.00102e-26	7.1608e-26	1	1	0
SI	6476	broad.mit.edu	37	3	164709984	164709984	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:164709984C>T	ENST00000264382.3	-	43	5026	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1655	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCAAACCACCGAGCATTGGG	0.348000										HNSCC(35;0.089)			59	221					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267721	65267721	+	RNA	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:65267721G>C	ENST00000534336.1	+	0	2489					NR_002819.2																						CTTAAATATAGTAGCTTAGTT	0.323000													9	24					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305107	54305107	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:54305107G>A	ENST00000545554.1	+	1	7	c.7G>A	c.(7-9)Gct>Act	p.A3T	UNC13C_ENST00000260323.11_Missense_Mutation_p.A3T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A3T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	3					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCATGGTGGCTAATTTTTT	0.358000													5	48					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56350124	56350124	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:56350124T>A	ENST00000370754.5	-	88	21099	c.21100A>T	c.(21100-21102)Atc>Ttc	p.I7034F	DST_ENST00000446842.2_Missense_Mutation_p.I6530F|DST_ENST00000361203.3_Missense_Mutation_p.I6745F|DST_ENST00000421834.2_Missense_Mutation_p.I4768F|DST_ENST00000370788.2_Missense_Mutation_p.I4659F|DST_ENST00000370769.4_Missense_Mutation_p.I6856F|DST_ENST00000244364.6_Missense_Mutation_p.I4442F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6854					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATTATCGATCAGATTCATC	0.368000													15	57					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155158050	155158050	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:155158050G>T	ENST00000392825.3	+	9	1671	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.L368L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	368						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACAGGAGACTGGCAGAAGTTT	0.393000													54	163					4.86159e-25	8.63459e-25	1	1	0
SLAMF7	57823	broad.mit.edu	37	1	160722000	160722000	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:160722000G>T	ENST00000368043.3	+	6	935	c.898G>T	c.(898-900)Gca>Tca	p.A300S	SLAMF7_ENST00000458104.2_Missense_Mutation_p.S118I|SLAMF7_ENST00000444090.2_Missense_Mutation_p.S134I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.A153S|SLAMF7_ENST00000359331.4_Missense_Mutation_p.S265I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.A193S|SLAMF7_ENST00000441662.2_Missense_Mutation_p.A169S	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	300					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAAGATCCAGCAAATACGGT	0.368000													15	54					1.02788e-11	1.42354e-11	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95816710	95816710	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:95816710C>A	ENST00000376887.4	-	16	2211	c.2097G>T	c.(2095-2097)caG>caT	p.Q699H	ABCC4_ENST00000536256.1_Missense_Mutation_p.Q624H|ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.Q699H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	699					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCTTATAGGCCTGAAAACCAA	0.398000													11	40					0.00136819	0.0014426	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	175165127	175165127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:175165127G>T	ENST00000454872.1	+	6	1329	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	401					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACCAAAAATGAAGCGTGTAG	0.388000													6	17					3.59834e-05	3.94912e-05	1	1	0
XIST	7503	broad.mit.edu	37	X	73071147	73071147	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:73071147C>A	ENST00000429829.1	-	0	1441					NR_001564.2																						AAACCCAACACGAAAAGCACA	0.517000													66	124					7.92265e-33	1.50272e-32	1	1	0
SRPR	6734	broad.mit.edu	37	11	126136508	126136508	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:126136508C>G	ENST00000332118.6	-	6	857	c.703G>C	c.(703-705)Gat>Cat	p.D235H	SRPR_ENST00000532259.1_Missense_Mutation_p.D207H	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	235					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTGGAGCATCTGACTTCGTG	0.498000													27	169					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57350926	57350926	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:57350926G>T	ENST00000342756.5	+	10	1703	c.982G>T	c.(982-984)Gcc>Tcc	p.A328S	SRP72_ENST00000510663.1_Missense_Mutation_p.A267S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	328					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAAAATATCTGCCAGTTTACA	0.423000													27	140					2.81731e-10	3.7244e-10	1	1	0
IGHV3-23	28442	broad.mit.edu	37	14	106725449	106725449	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:106725449C>A	ENST00000390609.2	-	0	181																											CTCAGGGACCCCCCAGGCTGT	0.587000													16	52					3.41278e-10	4.47767e-10	1	1	0
MGA	23269	broad.mit.edu	37	15	42041399	42041399	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:42041399A>G	ENST00000219905.7	+	17	5775	c.5594A>G	c.(5593-5595)aAt>aGt	p.N1865S	MGA_ENST00000566586.1_Missense_Mutation_p.N1656S|MGA_ENST00000389936.4_Missense_Mutation_p.N1826S|MGA_ENST00000570161.1_Missense_Mutation_p.N1865S|MGA_ENST00000545763.1_Missense_Mutation_p.N1656S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1826						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTGTCATGAATCCTGTAATT	0.483000													10	68					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339171	108339171	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:108339171C>A	ENST00000263054.6	-	25	3334	c.3327G>T	c.(3325-3327)gtG>gtT	p.V1109V	SORCS1_ENST00000344440.6_Silent_p.V1109V|SORCS1_ENST00000369698.1_Silent_p.V644V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1109						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACAAACACCACTGAGAGCA	0.547000													16	34					3.32936e-07	3.9057e-07	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56128118	56128118	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:56128118C>G	ENST00000303039.3	+	1	428	c.396C>G	c.(394-396)taC>taG	p.Y132*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTCTGCTGTACATGGTGGTGG	0.488000													34	102					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324604	79324604	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:79324604C>A	ENST00000419573.3	-	7	1287	c.1013G>T	c.(1012-1014)cGc>cTc	p.R338L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R338L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	338	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R338H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGTGGTTGCGGACGAACTC	0.587000													10	26					6.42651e-13	9.22985e-13	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059676	248059676	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248059676G>T	ENST00000537741.1	+	3	1045	c.788G>T	c.(787-789)gGa>gTa	p.G263V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G263V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCAGCCAGGAGCCAGTTCT	0.527000													39	105					2.26627e-22	3.86763e-22	1	1	0
PLEKHA5	54477	broad.mit.edu	37	12	19427917	19427917	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:19427917G>T	ENST00000538714.1	+	10	1299	c.1295_splice	c.e10+1	p.G432_splice	PLEKHA5_ENST00000359180.3_Splice_Site_p.G432_splice|PLEKHA5_ENST00000309364.4_Splice_Site_p.G432_splice|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Splice_Site_p.G190_splice|PLEKHA5_ENST00000429027.2_Splice_Site_p.G438_splice|PLEKHA5_ENST00000317589.4_Splice_Site_p.G432_splice|PLEKHA5_ENST00000424268.1_Splice_Site_p.G324_splice|PLEKHA5_ENST00000355397.3_Splice_Site_p.G432_splice|PLEKHA5_ENST00000299275.6_Splice_Site_p.G432_splice|PLEKHA5_ENST00000543806.1_Splice_Site_p.G324_splice	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	432							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAAACCAGGGGGTAAGTGTCT	0.423000													8	20					3.09899e-07	3.64771e-07	1	1	0
TPR	7175	broad.mit.edu	37	1	186332108	186332108	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:186332108T>C	ENST00000367478.3	-	6	853	c.557A>G	c.(556-558)gAa>gGa	p.E186G	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	186					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAATTCCTTTTCTTGCTCCAA	0.338000			T	NTRK1	papillary thyroid								7	51					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786456	19786456	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:19786456G>T	ENST00000341998.2	-	1	470	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L137M	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	137					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATGACATGCAGAATGATCGCA	0.433000													74	105					9.63364e-24	1.68528e-23	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164272170	164272170	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:164272170C>A	ENST00000515560.1	+	4	2267	c.745C>A	c.(745-747)Ctt>Att	p.L249I	NPY5R_ENST00000506953.1_Missense_Mutation_p.L249I|NPY5R_ENST00000338566.3_Missense_Mutation_p.L249I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	249					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAAACAGACTTGAAGAAAA	0.383000													38	94					2.75727e-19	4.46537e-19	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790053	40790053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:40790053A>T	ENST00000373198.3	-	18	2922	c.2687T>A	c.(2686-2688)tTg>tAg	p.L896*	PTPRT_ENST00000373184.1_Nonsense_Mutation_p.L864*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.L864*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.L883*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.L877*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.L874*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.L873*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	874	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGCTGCAGCAAGTCAGCCAC	0.587000													16	91					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248004939G>A	ENST00000355784.2	-	1	315	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGGCCCCAGGACAGCAGGTT	0.572000													4	47					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660373	17660373	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:17660373A>T	ENST00000595684.1	+	15	2018	c.1880A>T	c.(1879-1881)gAt>gTt	p.D627V	FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000600871.1_Intron			Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	0										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CATGCCAGTGATTGCTGGGGG	0.562000													13	66					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595063	140595063	+	Nonsense_Mutation	SNP	C	C	A	rs150126829		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140595063C>A	ENST00000341948.4	+	1	1555	c.1368C>A	c.(1366-1368)taC>taA	p.Y456*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		456	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACCTCCTACACCCTGTTCG	0.587000													78	118					1.39921e-30	2.6044e-30	1	1	0
TAF1	6872	broad.mit.edu	37	X	70617292	70617292	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:70617292G>C	ENST00000449580.1	+	23	3644	c.3593G>C	c.(3592-3594)cGg>cCg	p.R1198P	TAF1_ENST00000276072.3_Missense_Mutation_p.R1219P|TAF1_ENST00000423759.1_Missense_Mutation_p.R1219P|TAF1_ENST00000373790.4_Missense_Mutation_p.R1198P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1198					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGCGCATACGGACTACAAAA	0.468000													13	104					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322898	61322898	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:61322898G>T	ENST00000283752.5	-	8	1309	c.1166C>A	c.(1165-1167)tCc>tAc	p.S389Y	SERPINB3_ENST00000332821.8_Missense_Mutation_p.S337Y|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	389					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CATCTACGGGGATGAGAATCT	0.408000													47	102					1.22119e-34	2.33532e-34	1	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142232039	142232039	+	RNA	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:142232039G>T	ENST00000390364.3	-	0	51																											TCCAGGGCAGGATCTTGTGTC	0.572000													28	57					2.70662e-09	3.47923e-09	1	1	0
KRT84	3890	broad.mit.edu	37	12	52778902	52778902	+	Silent	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:52778902G>C	ENST00000257951.3	-	1	534	c.468C>G	c.(466-468)ccC>ccG	p.P156P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	156	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGGGCATTGGGGTCAATCT	0.507000													43	252					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220028137	220028137	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:220028137G>A	ENST00000455516.2	-	10	1485	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	SLC23A3_ENST00000295738.7_Missense_Mutation_p.R355W|SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R472W	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	472					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTTCCCGAAACCATCTT	0.547000													23	198					0	0	1	0	0
STK26	51765	broad.mit.edu	37	X	131202311	131202311	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:131202311C>A	ENST00000394334.2	+	5	652	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MST4_ENST00000354719.6_Missense_Mutation_p.D133E|MST4_ENST00000394335.2_Missense_Mutation_p.D56E|MST4_ENST00000496850.1_Missense_Mutation_p.D133E|MST4_ENST00000481105.1_Missense_Mutation_p.D155E	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		133	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAGGTCTGGACTATCTGCATT	0.373000													21	115					7.87624e-14	1.16722e-13	1	1	0
FLNC	2318	broad.mit.edu	37	7	128489239	128489239	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:128489239C>T	ENST00000325888.8	+	29	5193	c.4932C>T	c.(4930-4932)tcC>tcT	p.S1644S	FLNC_ENST00000346177.6_Silent_p.S1644S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1644					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCAGTGTCCATTGGAGGCC	0.657000													26	47					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113515278	113515278	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:113515278G>T	ENST00000257600.3	+	2	812	c.309G>T	c.(307-309)ccG>ccT	p.P103P		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	103	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.P103P(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGTCGGCGCCGGGCAAGGGCA	0.652000													15	53					6.94344e-10	9.00841e-10	1	1	0
C19orf44	84167	broad.mit.edu	37	19	16611991	16611991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:16611991A>T	ENST00000221671.3	+	2	544	c.388A>T	c.(388-390)Aga>Tga	p.R130*	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Nonsense_Mutation_p.R130*	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	130										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TCTTCCAAAGAGAGCTGACAG	0.532000													43	101					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83984262	83984262	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:83984262G>T	ENST00000418306.2	-	1	61	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.Q13K	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACAAAAGCTGATAATTCTCA	0.383000													3	10					0.115264	0.1166	1	1	0
IGHV4-28	28400	broad.mit.edu	37	14	106780679	106780679	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:106780679C>A	ENST00000390612.2	-	0	256																											CAGTCCCTTCCCTGGGGGCTG	0.567000													17	43					2.35188e-11	3.21885e-11	1	1	0
WAS	7454	broad.mit.edu	37	X	48545178	48545178	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:48545178G>T	ENST00000376701.4	+	7	643	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	190					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGGCCCTCCAGTGGGTCCGCT	0.587000			"""Mis, N, F, S"""			lymphoma							10	75					5.50884e-06	6.25231e-06	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56142789	56142789	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:56142789G>A	ENST00000508342.1	-	10	2854	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L	NEDD4_ENST00000506154.1_Missense_Mutation_p.P836L|NEDD4_ENST00000435532.3_Missense_Mutation_p.P433L|NEDD4_ENST00000338963.2_Missense_Mutation_p.P780L			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	852	Mediates interaction with TNIK (By similarity).|WW 3.				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)		CCTCCCATTTGGTGCATGCCG	0.438000													94	174					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230723835	230723835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:230723835G>C	ENST00000283943.5	-	3	732	c.554C>G	c.(553-555)tCa>tGa	p.S185*	TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389045.3_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.S185*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTTTGGCTGAGGTGGCTGA	0.522000													21	68					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825467	26825467	+	Splice_Site	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:26825467T>A	ENST00000541819.2	-	7	951	c.850_splice	c.e7+1	p.T283_splice	GABRB3_ENST00000400188.3_Splice_Site_p.T156_splice|GABRB3_ENST00000299267.4_Splice_Site_p.T227_splice|GABRB3_ENST00000545868.1_Splice_Site_p.T142_splice|GABRB3_ENST00000311550.5_Splice_Site_p.T227_splice			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	227					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGACTCACCTGTGGCGAAGA	0.567000													30	55					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824943	162824943	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:162824943C>A	ENST00000367912.1	-	4	692	c.518G>T	c.(517-519)gGc>gTc	p.G173V	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169V|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174V			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	174								p.G174D(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACAGAGATGCCCTTGCTGGG	0.463000													86	262					1.78623e-52	3.57246e-52	1	1	0
AIM1L	55057	broad.mit.edu	37	1	26650714	26650714	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:26650714C>A	ENST00000527815.1	-	17	2093	c.2044G>T	c.(2044-2046)Gtg>Ttg	p.V682L	AIM1L_ENST00000308182.5_Missense_Mutation_p.V511L	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	511							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCGACCACCACACGGCCTGCT	0.602000													18	80					1.50039e-11	2.06563e-11	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107267410	107267410	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:107267410C>A	ENST00000334726.2	+	1	956	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCTATCATCTATAGTCTAC	0.403000													26	44					9.57634e-11	1.2904e-10	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245847653	245847653	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:245847653C>A	ENST00000366518.4	+	8	1338	c.1234C>A	c.(1234-1236)Cag>Aag	p.Q412K	KIF26B_ENST00000407071.2_Missense_Mutation_p.Q793K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	793					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTCCACCATCCAGATTGCATC	0.607000													10	33					0.000442599	0.000472377	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111983046	111983046	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:111983046C>A	ENST00000305815.5	-	9	1275		c.e9+1		SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1						cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GATGTTCTTACCTTAAAACAA	0.234000													9	15					1.12685e-05	1.26454e-05	1	1	0
IRX3	79191	broad.mit.edu	37	16	54319090	54319090	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:54319090C>A	ENST00000329734.3	-	2	1415	c.703G>T	c.(703-705)Ggg>Tgg	p.G235W		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	235	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						tcctcctcccccccgagctcc	0.657000													4	5					0.00909568	0.00930907	1	1	0
GDI1	2664	broad.mit.edu	37	X	153666923	153666923	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:153666923G>T	ENST00000447750.2	+	2	435	c.100G>T	c.(100-102)Gac>Tac	p.D34Y		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	34				D -> G (in Ref. 2; BAA08078).	protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGCACATGGACCGGAACCC	0.622000													13	94					7.02657e-22	1.18754e-21	1	1	0
ALPP	250	broad.mit.edu	37	2	233243716	233243716	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:233243716G>A	ENST00000392027.2	+	2	381	c.112G>A	c.(112-114)Gca>Aca	p.A38T		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	38						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GAACCGCGAGGCAGCCGAGGC	0.632000													51	118					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216262472	216262472	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:216262472C>T	ENST00000354785.4	-	22	3817	c.3448G>A	c.(3448-3450)Gtc>Atc	p.V1150I	FN1_ENST00000443816.1_Missense_Mutation_p.V1150I|FN1_ENST00000359671.1_Missense_Mutation_p.V1150I|FN1_ENST00000356005.4_Missense_Mutation_p.V1150I|FN1_ENST00000346544.3_Missense_Mutation_p.V1150I|FN1_ENST00000345488.5_Missense_Mutation_p.V1150I|FN1_ENST00000336916.4_Missense_Mutation_p.V1150I|FN1_ENST00000432072.2_Missense_Mutation_p.V1150I|FN1_ENST00000357867.4_Missense_Mutation_p.V1150I|FN1_ENST00000421182.1_Missense_Mutation_p.V1150I|FN1_ENST00000323926.6_Missense_Mutation_p.V1150I|FN1_ENST00000446046.1_Missense_Mutation_p.V1150I|FN1_ENST00000357009.2_Missense_Mutation_p.V1150I			P02751	FINC_HUMAN	fibronectin 1	1150	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTAGACGTATTCTACT	0.483000													18	115					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70389658	70389658	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:70389658C>A	ENST00000374051.3	+	7	2520	c.2198C>A	c.(2197-2199)cCg>cAg	p.P733Q	NLGN3_ENST00000358741.3_Missense_Mutation_p.P753Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.P713Q|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	753					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCCGGGGCCCCGGAGTTGGGA	0.672000													7	23					8.12818e-05	8.85097e-05	1	1	0
FLT3	2322	broad.mit.edu	37	13	28609802	28609802	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:28609802T>A	ENST00000380982.4	-	12	1508	c.1427A>T	c.(1426-1428)gAa>gTa	p.E476V	FLT3_ENST00000537084.1_Missense_Mutation_p.E476V|FLT3_ENST00000241453.7_Missense_Mutation_p.E476V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	476					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGATCTCTTCTGTGCAGCT	0.408000			"""Mis, O"""		"""AML, ALL"""								25	53					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220935059	220935059	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:220935059C>T	ENST00000366913.3	+	3	704	c.506C>T	c.(505-507)aCc>aTc	p.T169I	MARC2_ENST00000359316.2_Missense_Mutation_p.T169I	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	169				T -> A (in Ref. 2; CAL38507).		mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										AAGTGGTTCACCAACTTCTTG	0.398000													29	73					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162675	33162675	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:33162675C>A	ENST00000510327.1	-	0	346																											GCCAAGCTGACTCCTGAGGAA	0.453000													9	23					0.00448238	0.00466275	1	1	0
EYS	346007	broad.mit.edu	37	6	66054017	66054017	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:66054017C>A	ENST00000503581.1	-	10	2050	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	EYS_ENST00000370621.3_Missense_Mutation_p.A505S|EYS_ENST00000370618.3_Missense_Mutation_p.A505S|EYS_ENST00000393380.2_Missense_Mutation_p.A505S|EYS_ENST00000342421.5_Missense_Mutation_p.A505S|EYS_ENST00000370616.2_Missense_Mutation_p.A505S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	505					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCAGTTTGCAGCCAGAAAG	0.353000													28	55					7.76418e-22	1.30903e-21	1	1	0
POTEH	23784	broad.mit.edu	37	22	16287446	16287446	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:16287446C>A	ENST00000343518.6	-	1	491	c.440G>T	c.(439-441)aGg>aTg	p.R147M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	147								p.R147K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCCGCTCCCCCTGCAGCAGGG	0.587000													74	213					2.42809e-49	4.81479e-49	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106797698	106797698	+	Silent	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:106797698T>C	ENST00000276185.4	+	9	825	c.825T>C	c.(823-825)cgT>cgC	p.R275R	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	275	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCTGCTGCGTCGGGATCCTG	0.512000													4	33					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17597453	17597453	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:17597453C>A	ENST00000375460.3	+	8	951	c.911C>A	c.(910-912)cCa>cAa	p.P304Q		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	304					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCACTCTGCCACCCCTAGAG	0.637000													18	48					2.48551e-13	3.59934e-13	1	1	0
PHYHIP	9796	broad.mit.edu	37	8	22079151	22079151	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:22079151G>T	ENST00000454243.2	-	5	1282	c.708C>A	c.(706-708)atC>atA	p.I236I	PHYHIP_ENST00000321613.3_Silent_p.I236I	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	236										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CCAGCACCAGGATGGCGTAGT	0.622000													5	20					1.23904e-05	1.38598e-05	1	1	0
WWC3	55841	broad.mit.edu	37	X	10062251	10062251	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:10062251G>T	ENST00000380861.4	+	7	978	c.587G>T	c.(586-588)gGc>gTc	p.G196V	WWC3_ENST00000454666.1_Missense_Mutation_p.G196V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	196										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CACCATGTAGGCGTGCCTGGC	0.577000													34	130					7.11191e-15	1.07915e-14	1	1	0
WIPF2	147179	broad.mit.edu	37	17	38420855	38420855	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:38420855G>T	ENST00000323571.4	+	5	667	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	WIPF2_ENST00000583130.1_Missense_Mutation_p.A143S|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.A143S	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	143						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGCAGCCGGGCCTCACTCCC	0.617000										HNSCC(43;0.11)			42	425					4.44401e-20	7.29864e-20	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54147529	54147529	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:54147529C>T	ENST00000265572.3	-	3	697	c.400G>A	c.(400-402)Gta>Ata	p.V134I	OPRK1_ENST00000520287.1_Missense_Mutation_p.V134I|OPRK1_ENST00000524278.1_Missense_Mutation_p.V45I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	134					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)	ATGGAAATTACTATCTTGCAC	0.478000													14	99					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198953731	198953731	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:198953731G>T	ENST00000428675.1	+	3	3263	c.2865G>T	c.(2863-2865)gaG>gaT	p.E955D	PLCL1_ENST00000437704.2_Missense_Mutation_p.E857D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	955					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTTACCTGGAGCCTCTGGGTG	0.453000													58	212					4.46115e-38	8.64968e-38	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32715201	32715201	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:32715201C>G	ENST00000421745.2	+	43	8323	c.8189C>G	c.(8188-8190)aCa>aGa	p.T2730R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2730					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACACTCATGACAAACATGCAG	0.353000													39	136					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066575	175066575	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:175066575G>T	ENST00000239462.4	+	8	1724	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	537	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCAAACCTGGTGACTGACC	0.507000													15	66					0.00316338	0.00330545	1	1	0
DHTKD1	55526	broad.mit.edu	37	10	12123617	12123617	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:12123617C>T	ENST00000263035.4	+	2	363	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	101					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGGACCCTTCCACACGGCAGG	0.587000													34	81					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861027	147861027	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:147861027C>A	ENST00000513335.1	-	4	298	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TTC29_ENST00000325106.4_Silent_p.L7L|TTC29_ENST00000398886.4_Silent_p.L33L|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	7							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTGTCATGGGCAGTGGGGGCA	0.418000													6	25					2.0095e-06	2.29939e-06	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21456355	21456355	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:21456355G>T	ENST00000313654.9	+	39	5337	c.5096G>T	c.(5095-5097)gGc>gTc	p.G1699V	LAMA3_ENST00000587184.1_Missense_Mutation_p.G90V|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1699V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G90V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1699	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCAGGATGGCTCAGGCATA	0.448000													17	32					8.00594e-06	9.05696e-06	1	1	0
GBE1	2632	broad.mit.edu	37	3	81640267	81640267	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:81640267T>A	ENST00000429644.2	-	9	1800	c.1157A>T	c.(1156-1158)gAt>gTt	p.D386V	GBE1_ENST00000489715.1_Missense_Mutation_p.D345V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	386					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGCATCTTCATCTACTTGTAG	0.368000									Glycogen Storage Disease, type IV				13	13					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473147	22473147	+	RNA	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:22473147C>T	ENST00000557788.2	-	0	123																											CCAGAGACAACGCAGGTGAGG	0.612000													11	172					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152719880	152719880	+	Nonsense_Mutation	SNP	C	C	T	rs143828088	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:152719880C>T	ENST00000370219.3	-	9	1604	c.1047G>A	c.(1045-1047)tgG>tgA	p.W349*	HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370211.4_Nonsense_Mutation_p.W339*|HAUS7_ENST00000370212.3_Nonsense_Mutation_p.W408*|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	349					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGCTGCCACCCCAGCAGATCT	0.632000													9	45					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128844873	128844873	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:128844873C>A	ENST00000274487.4	+	3	978	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	278					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S278F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAAAAGGTCCATGGAGGAA	0.398000													27	76					2.4375e-19	3.96591e-19	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34090806	34090806	+	Missense_Mutation	SNP	C	C	T	rs150609588		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:34090806C>T	ENST00000373381.4	-	34	5521	c.5345G>A	c.(5344-5346)cGc>cAc	p.R1782H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R655H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1742	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGCCATAGCGGGGTTCCGG	0.657000													10	30					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541832	55541832	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:55541832G>T	ENST00000361760.1	+	1	919	c.919G>T	c.(919-921)Gtt>Ttt	p.V307F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGAAAAATTAGTTGTCACCAA	0.343000													16	35					1.15088e-07	1.37318e-07	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54856417	54856417	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:54856417C>T	ENST00000333896.5	+	13	2492	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R716C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	716					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAGAAGATCCGTGAGAGGAT	0.602000													19	104					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106960438	106960438	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:106960438G>A	ENST00000369066.3	+	1	709	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	74							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCTCCGCTGCGAGCCCAGAGT	0.677000													5	11					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89445035	89445035	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:89445035G>T	ENST00000336596.2	+	6	1580	c.1355G>T	c.(1354-1356)aGc>aTc	p.S452I	EPHA3_ENST00000452448.2_Missense_Mutation_p.S452I|EPHA3_ENST00000494014.1_Missense_Mutation_p.S452I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	452	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAGAAATAGCATCTCTTTG	0.438000										TSP Lung(6;0.00050)			91	149					1.42479e-40	2.77793e-40	1	1	0
TNN	63923	broad.mit.edu	37	1	175066705	175066705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:175066705G>T	ENST00000239462.4	+	8	1854	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	581	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGGGGAAGGAGCAGAGCAG	0.602000													16	51					8.60227e-14	1.26675e-13	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10468873	10468873	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:10468873C>A	ENST00000382483.3	-	4	2958	c.2735G>T	c.(2734-2736)aGt>aTt	p.S912I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	912					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGCACTGCTTCTCCT	0.716000													6	16					2.0095e-06	2.29939e-06	1	1	0
GZMB	3002	broad.mit.edu	37	14	25102225	25102225	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:25102225G>T	ENST00000216341.4	-	2	205	c.99C>A	c.(97-99)ccC>ccA	p.P33P	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.P67P|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Silent_p.P21P|GZMB_ENST00000382540.1_Silent_p.P33P|GZMB_ENST00000526004.1_Silent_p.P33P			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	33	Peptidase S1.			RP -> PR (in Ref. 12; AA sequence).	activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		AAGCCATGTAGGGGCGGGAGT	0.567000													21	153					1.22574e-08	1.54156e-08	1	1	0
XCR1	2829	broad.mit.edu	37	3	46063307	46063307	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:46063307T>C	ENST00000309285.3	-	2	489	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	XCR1_ENST00000542109.1_Missense_Mutation_p.S45G	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	45					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCACTAGGCTGAGGAGAAAC	0.547000													8	85					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911289	88911289	+	Missense_Mutation	SNP	G	G	C	rs11545464		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:88911289G>C	ENST00000263321.5	+	1	670	c.168G>C	c.(166-168)caG>caC	p.Q56H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	56					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTTCCTGTCAGAATATCCTTC	0.552000													17	55					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4796776	4796776	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:4796776G>C	ENST00000328914.4	+	5	1202	c.1202G>C	c.(1201-1203)gGt>gCt	p.G401A	FOXK1_ENST00000446823.1_Missense_Mutation_p.G238A	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	401					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGGCAGAGGGGTGTCTCCTGC	0.607000													14	121					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247029	164247029	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:164247029A>T	ENST00000296533.2	-	2	1209	c.678T>A	c.(676-678)ttT>ttA	p.F226L	NPY1R_ENST00000509586.1_5'UTR	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	226					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAATAAATATAAAACAAAGTG	0.333000													16	24					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473940	31473940	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:31473940G>A	ENST00000457010.2	+	3	1773	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ARMC5_ENST00000563544.1_Missense_Mutation_p.E358K|ARMC5_ENST00000268314.4_Missense_Mutation_p.E358K|ARMC5_ENST00000538189.1_Missense_Mutation_p.E390K|ARMC5_ENST00000408912.3_Missense_Mutation_p.E453K|ARMC5_ENST00000412665.2_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	358							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTATGTCGTGAGGCCATCAA	0.647000													22	82					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186061	128186061	+	Missense_Mutation	SNP	G	G	A	rs121918146		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:128186061G>A	ENST00000453608.2	+	8	1098	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PROC_ENST00000409048.1_Missense_Mutation_p.A343T|PROC_ENST00000234071.3_Missense_Mutation_p.A309T|PROC_ENST00000422777.3_Missense_Mutation_p.A309T			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	309	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGCCCAGCCCGCCACCCTCTC	0.647000													27	81					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099038	92099038	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:92099038C>A	ENST00000493463.2	-	1	1581	c.658G>T	c.(658-660)Gta>Tta	p.V220L	ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.V220L	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		220					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						agaggtcctactaaaacggaa	0.418000													16	137					3.41278e-10	4.47767e-10	1	1	0
STK26	51765	broad.mit.edu	37	X	131188889	131188889	+	Splice_Site	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:131188889G>C	ENST00000394334.2	+	3	526	c.273_splice	c.e3+1	p.K91_splice	MST4_ENST00000354719.6_Splice_Site_p.K91_splice|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Splice_Site_p.K91_splice|MST4_ENST00000481105.1_Splice_Site_p.K91_splice	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		91	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CATATTTAAAGGTAATGTGTG	0.303000													28	38					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95814260	95814260	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:95814260C>A	ENST00000416240.2	-	10	1190	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G333C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G225C	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	333					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAACCCAGACCAAACCTGTAG	0.428000													45	66					4.18559e-23	7.21368e-23	1	1	0
CENPI	2491	broad.mit.edu	37	X	100364529	100364529	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:100364529G>T	ENST00000372927.1	+	4	709	c.432G>T	c.(430-432)gtG>gtT	p.V144V	CENPI_ENST00000218507.5_Silent_p.V144V|CENPI_ENST00000423383.1_Silent_p.V144V|CENPI_ENST00000372926.1_Silent_p.V144V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	144					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGATTCTGTGGTTAAGGCAG	0.398000													69	415					4.09166e-32	7.73978e-32	1	1	0
DMRTB1	63948	broad.mit.edu	37	1	53930491	53930491	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:53930491T>C	ENST00000371445.3	+	3	987	c.932T>C	c.(931-933)gTc>gCc	p.V311A		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	311					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TCACTGACCGTCCTGTTTGAT	0.587000													44	113					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21272460	21272460	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:21272460C>G	ENST00000354336.3	+	1	747	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	80	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATTTGACCATTTGCCGGC	0.602000													15	45					0	0	1	0	0
BAALC	79870	broad.mit.edu	37	8	104225254	104225254	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:104225254C>A	ENST00000309982.5	+	2	456	c.268C>A	c.(268-270)Ccc>Acc	p.P90T	BAALC_ENST00000297574.6_Missense_Mutation_p.P125T|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	125						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GTGCCCAAATCCCCAGAGCCT	0.567000													30	115					8.4185e-14	1.24231e-13	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47970701	47970701	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:47970701C>A	ENST00000289672.2	-	6	787	c.737_splice	c.e6+1	p.S246_splice		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	246					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCACCGTACCTTCTGGGAGA	0.547000													22	29					2.32416e-17	3.66199e-17	1	1	0
AMPD1	270	broad.mit.edu	37	1	115222305	115222305	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:115222305C>T	ENST00000369538.3	-	6	926	c.879G>A	c.(877-879)ctG>ctA	p.L293L	AMPD1_ENST00000520113.2_Silent_p.L297L|AMPD1_ENST00000353928.6_Silent_p.L264L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	264					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGAGGAACTTCAGGCGCCGGT	0.403000													41	163					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043547	117043547	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:117043547C>A	ENST00000371876.1	-	4	3351	c.930G>T	c.(928-930)atG>atT	p.M310I	KLHL13_ENST00000539496.1_Missense_Mutation_p.M364I|KLHL13_ENST00000545703.1_Missense_Mutation_p.M319I|KLHL13_ENST00000540167.1_Missense_Mutation_p.M345I|KLHL13_ENST00000541812.1_Missense_Mutation_p.M345I|KLHL13_ENST00000371878.1_Missense_Mutation_p.M310I|KLHL13_ENST00000469946.1_Missense_Mutation_p.M310I|KLHL13_ENST00000371882.1_Missense_Mutation_p.M310I|KLHL13_ENST00000262820.3_Missense_Mutation_p.M361I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	361					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTTCATCATACATGCGCAATT	0.507000													40	100					7.53189e-24	1.32092e-23	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201438629	201438629	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:201438629G>T	ENST00000357799.4	+	7	3658	c.3560G>T	c.(3559-3561)aGt>aTt	p.S1187I		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1187					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTCAAGTAAGTGATGATGAG	0.358000													33	60					6.00712e-18	9.57299e-18	1	1	0
GPA33	10223	broad.mit.edu	37	1	167038355	167038355	+	Silent	SNP	C	C	T	rs144380186	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTTGAAAACGGCCAGATGA	0.507000													4	43					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43870150	43870150	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:43870150A>T	ENST00000562955.1	+	4	427	c.427A>T	c.(427-429)Atc>Ttc	p.I143F	SZT2_ENST00000310739.4_Missense_Mutation_p.I143F|SZT2_ENST00000372450.4_Missense_Mutation_p.I141F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	143						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGATCTTGCATCGACTTCCA	0.527000													24	97					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27186946	27186946	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:27186946C>T	ENST00000222728.3	-	1	447	c.423G>A	c.(421-423)caG>caA	p.Q141Q	HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AGTTCATCCGCTGCATCCAAG	0.557000													7	102					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47969905	47969905	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:47969905G>T	ENST00000376932.2	+	3	182	c.108G>T	c.(106-108)gaG>gaT	p.E36D	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CTAAGGAAGAGTGGGAAAAGA	0.408000													32	90					1.62565e-12	2.29233e-12	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780049	37780049	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:37780049C>A	ENST00000447769.1	+	4	343	c.54C>A	c.(52-54)ccC>ccA	p.P18P	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.P18P			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTGACACCCCACTTAATCA	0.488000													30	251					3.1745e-13	4.5781e-13	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763370	82763370	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:82763370G>T	ENST00000373200.2	+	1	102	c.38G>T	c.(37-39)aGt>aTt	p.S13I	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	13					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCATTCTCAGTTCCACCTCC	0.537000													4	35					2.56e-06	2.91974e-06	1	1	0
STARD13	90627	broad.mit.edu	37	13	33741731	33741731	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:33741731C>A	ENST00000336934.5	-	2	314	c.198G>T	c.(196-198)tgG>tgT	p.W66C	STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.W58C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	66	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAGCACGGAGCCAGTCACATG	0.473000													13	41					2.27111e-07	2.67776e-07	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50450323	50450323	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:50450323G>T	ENST00000331340.3	+	5	662	c.507G>T	c.(505-507)ggG>ggT	p.G169G	IKZF1_ENST00000343574.5_Silent_p.G82G|IKZF1_ENST00000438033.1_Silent_p.G82G|IKZF1_ENST00000439701.1_Silent_p.G169G|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Silent_p.G169G|IKZF1_ENST00000359197.5_Silent_p.G169G|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Silent_p.G169G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	169					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGCATTCCGGGGAGAAGCCCT	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	21					0.0215528	0.0219939	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945027	151945027	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:151945027G>C	ENST00000355193.2	-	14	2710	c.2492C>G	c.(2491-2493)aCt>aGt	p.T831S	KMT2C_ENST00000262189.6_Missense_Mutation_p.T831S					lysine (K)-specific methyltransferase 2C																		TTTTCTCTTAGTAATAGCTGG	0.373000													16	429					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373751	138373751	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:138373751G>C	ENST00000409968.1	+	18	3608	c.3430G>C	c.(3430-3432)Gat>Cat	p.D1144H	THSD7B_ENST00000272643.3_Missense_Mutation_p.D1147H|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1116H|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATAGTCATGCGATCCCCACAC	0.413000													30	101					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246900	89246900	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:89246900C>A	ENST00000496168.1	-	0	450																											TGAATTCTGTCCCAGATCCAC	0.478000													62	163					3.56336e-21	5.9079e-21	1	1	0
TAS2R31	259290	broad.mit.edu	37	12	11183898	11183898	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:11183898C>A	ENST00000390675.2	-	1	108	c.37G>T	c.(37-39)Gta>Tta	p.V13L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	13					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AGAACCACTACCACACTGGAA	0.383000													10	81					4.68919e-08	5.72212e-08	1	1	0
ALAS2	212	broad.mit.edu	37	X	55041222	55041222	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:55041222G>T	ENST00000330807.5	-	9	1532	c.1395C>A	c.(1393-1395)ggC>ggA	p.G465G	ALAS2_ENST00000396198.3_Silent_p.G452G|ALAS2_ENST00000335854.4_Silent_p.G428G|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	465					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGACAGGAAGGCCCCTGTCCA	0.617000													4	11					1	1	1	1	0
MCC	4163	broad.mit.edu	37	5	112399787	112399787	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:112399787C>G	ENST00000302475.4	-	12	2100	c.1537G>C	c.(1537-1539)Gcc>Ccc	p.A513P	MCC_ENST00000408903.3_Missense_Mutation_p.A703P|MCC_ENST00000515367.2_Missense_Mutation_p.A450P|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	513					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGGGCCTTGGCAGCGTTCTCA	0.612000													31	62					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100779081	100779081	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:100779081A>T	ENST00000358544.2	+	40	7316	c.7205A>T	c.(7204-7206)aAa>aTa	p.K2402I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K2377I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2402					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)			TCTGAAAGCAAAGTTTGTGAA	0.348000													33	72					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24432712	24432712	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:24432712T>C	ENST00000355123.4	-	35	4891	c.4448A>G	c.(4447-4449)aAt>aGt	p.N1483S	ITSN2_ENST00000361999.3_Missense_Mutation_p.N1456S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1483	PH.				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)					GAATTGAGCATTGGACTTCGA	0.478000													22	126					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54347964	54347964	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:54347964C>A	ENST00000306888.2	-	6	1371	c.1120G>T	c.(1120-1122)Gac>Tac	p.D374Y	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.D470Y	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	470						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAAAGATGTCAGGGCTCCGC	0.612000													8	61					0.00307968	0.00322281	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141272280	141272280	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:141272280C>A	ENST00000389484.3	-	51	9182	c.8211G>T	c.(8209-8211)tgG>tgT	p.W2737C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2737	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCACAAATCCAATGCTTAG	0.358000										TSP Lung(27;0.18)			27	81					4.87955e-14	7.26211e-14	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54805709	54805709	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:54805709G>T	ENST00000293379.4	-	2	519	c.258C>A	c.(256-258)agC>agA	p.S86R	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ITGA5_ENST00000547744.1_5'UTR	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	86					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTCCTGGCTGGCTGGTATTAG	0.587000													8	25					7.48243e-07	8.67564e-07	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248684954	248684954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248684954G>T	ENST00000343414.4	+	1	39	c.7G>T	c.(7-9)Gaa>Taa	p.E3*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAATGGAGGAAACCAACAA	0.398000													46	143					1.47857e-17	2.34556e-17	1	1	0
KRBA2	124751	broad.mit.edu	37	17	8285499	8285499	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:8285499C>T	ENST00000582471.1	-	2	180	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	RPL26_ENST00000584164.1_Missense_Mutation_p.V44M|RPL26_ENST00000578812.1_Missense_Mutation_p.V44M|RPL26_ENST00000583011.1_Missense_Mutation_p.V44M|RPL26_ENST00000582556.1_Missense_Mutation_p.V44M|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000293842.5_Missense_Mutation_p.V44M																							ATGGATCGCACGTTGTACTTC	0.448000													9	70					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42699941	42699941	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:42699941C>A	ENST00000230882.4	+	6	645	c.455C>A	c.(454-456)cCc>cAc	p.P152H	GHR_ENST00000357703.3_Missense_Mutation_p.P130H|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	152	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCAGATCCACCCATTGCCCTC	0.413000													23	126					4.72057e-08	5.75037e-08	1	1	0
CTAG2	30848	broad.mit.edu	37	X	153880596	153880596	+	Silent	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:153880596T>C	ENST00000247306.4	-	2	642	c.579A>G	c.(577-579)ggA>ggG	p.G193G	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	193						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACCCATCTCCCTGGGCTC	0.587000													21	103					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													10	82					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763172	20763172	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:20763172G>T	ENST00000382844.1	-	1	747	c.549C>A	c.(547-549)tcC>tcA	p.S183S	GJB2_ENST00000382848.4_Silent_p.S183S			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	183					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCGTGGGCCGGGACACAAAGC	0.488000									Keratitis, Ichthyosis and Deafness syndrome				17	29					2.48551e-13	3.59934e-13	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70948947	70948947	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:70948947C>A	ENST00000334414.6	-	20	5180	c.5136G>T	c.(5134-5136)gaG>gaT	p.E1712D	PTPRB_ENST00000538708.1_Missense_Mutation_p.E1404D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1404D|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1494D|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1624D|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1404D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1494	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACCATCAGCCTCTCTCACCA	0.433000													17	74					4.96729e-08	6.02986e-08	1	1	0
RPL10	6134	broad.mit.edu	37	X	153626736	153626736	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:153626736G>T	ENST00000424325.2	+	1	165		c.e1+1		RPL10_ENST00000479366.1_Splice_Site|RPL10_ENST00000369817.2_Splice_Site	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCGGTGTGGTGAGTAAGCG	0.557000											OREG0003599	type=REGULATORY REGION|Gene=RPL10|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	139					1.22574e-08	1.54156e-08	1	1	0
PDE4B	5142	broad.mit.edu	37	1	66833499	66833499	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:66833499A>T	ENST00000423207.2	+	12	1945	c.1460A>T	c.(1459-1461)cAg>cTg	p.Q487L	PDE4B_ENST00000329654.4_Missense_Mutation_p.Q502L|PDE4B_ENST00000371045.5_Missense_Mutation_p.Q330L|PDE4B_ENST00000480109.2_Missense_Mutation_p.Q269L|PDE4B_ENST00000371049.3_Missense_Mutation_p.Q502L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	502					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACCAAGAAGCAGCGTCAGACA	0.398000													36	161					0	0	1	0	0
CTSK	1513	broad.mit.edu	37	1	150776578	150776578	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:150776578C>A	ENST00000271651.3	-	5	647	c.537G>T	c.(535-537)ggG>ggT	p.G179G	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	179					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCATGTAGCCCCCTCCACAGC	0.498000													53	155					6.3091e-27	1.14981e-26	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69283069	69283069	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:69283069C>A	ENST00000338352.2	+	1	729	c.695C>A	c.(694-696)cCc>cAc	p.P232H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	232	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGAAGACCCCCATCGAGGTG	0.612000													10	54					0.361761	0.36228	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34090807	34090807	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:34090807G>T	ENST00000373381.4	-	34	5520	c.5344C>A	c.(5344-5346)Cgc>Agc	p.R1782S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R655S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1742	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGCCATAGCGGGGTTCCGGC	0.652000													10	28					6.40141e-05	6.99246e-05	1	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253724	32253724	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr21:32253724G>T	ENST00000332378.4	-	1	150	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	40						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TGGGCAAACAGATGCCGCCCA	0.572000													34	77					6.84511e-11	9.2955e-11	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72509717	72509717	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:72509717C>A	ENST00000373208.1	+	16	2412	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	ADAMTS14_ENST00000373207.1_Silent_p.P801P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	801	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCAGCGGGCCCCTGCCTGAAG	0.642000													16	37					6.94344e-10	9.00841e-10	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99762419	99762419	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:99762419C>A	ENST00000370185.3	+	3	1031	c.534C>A	c.(532-534)ttC>ttA	p.F178L	LPPR4_ENST00000457765.1_Missense_Mutation_p.F178L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		178							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGTCAGATTCGTTGGTGGGT	0.383000													31	81					1.55811e-20	2.57716e-20	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10469545	10469545	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:10469545C>A	ENST00000382483.3	-	4	2286	c.2063G>T	c.(2062-2064)aGg>aTg	p.R688M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	688					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCAGGAGGCCTCGGCACTTG	0.627000													11	77					1.08611e-07	1.29812e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179593275	179593275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:179593275C>A	ENST00000589042.1	-	66	19602	c.19378G>T	c.(19378-19380)Gaa>Taa	p.E6460*	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.E6143*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E5216*|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6143	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCATTTTCCACCTTGAAA	0.408000													13	24					4.36969e-10	5.70102e-10	1	1	0
PIGO	84720	broad.mit.edu	37	9	35095117	35095117	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:35095117G>A	ENST00000378617.3	-	2	840	c.446C>T	c.(445-447)gCt>gTt	p.A149V	PIGO_ENST00000361778.2_Missense_Mutation_p.A149V|PIGO_ENST00000341666.3_Missense_Mutation_p.A149V|PIGO_ENST00000298004.5_Missense_Mutation_p.A149V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	149					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTTACTACCAGCATCAATAAA	0.557000													16	101					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151234689	151234689	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:151234689G>T	ENST00000274576.4	-	6	901	c.609C>A	c.(607-609)gcC>gcA	p.A203A	GLRA1_ENST00000545569.1_Silent_p.A120A|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.A203A	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	203					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTACCTGCACGGCTCCCTGTT	0.488000													68	84					6.00099e-30	1.11401e-29	1	1	0
N4BP3	23138	broad.mit.edu	37	5	177546595	177546595	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:177546595C>T	ENST00000274605.5	+	2	370	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	4						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCCACAGCCCCAGGCCCT	0.642000													29	33					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127785970	127785970	+	Silent	SNP	G	G	T	rs138437267		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:127785970G>T	ENST00000243253.3	+	9	1135	c.951G>T	c.(949-951)ctG>ctT	p.L317L	SEC61A1_ENST00000464451.1_Silent_p.L323L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Silent_p.L197L|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	317					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GCAACTTGCTGGTCAGCCTGC	0.507000													24	176					6.36457e-07	7.42888e-07	1	1	0
DST	667	broad.mit.edu	37	6	56484938	56484938	+	Silent	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:56484938A>T	ENST00000370765.6	-	23	4001	c.3894T>A	c.(3892-3894)ctT>ctA	p.L1298L	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	4950					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAAATGCAAGGTCTTTTT	0.323000													25	48					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	229046291	229046291	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:229046291C>T	ENST00000392056.3	-	1	70	c.24G>A	c.(22-24)tcG>tcA	p.S8S	SPHKAP_ENST00000344657.5_Silent_p.S8S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	8						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCTTGGTACCGAGAGCAGGG	0.557000													27	188					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961674	1961674	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:1961674G>T	ENST00000378585.4	+	9	1395	c.1312G>T	c.(1312-1314)Gcg>Tcg	p.A438S		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	438						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GTTCCCTGCGGCGTTTGCGGC	0.682000													27	65					3.69857e-22	6.29658e-22	1	1	0
SRP72	6731	broad.mit.edu	37	4	57350927	57350927	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:57350927C>G	ENST00000342756.5	+	10	1704	c.983C>G	c.(982-984)gCc>gGc	p.A328G	SRP72_ENST00000510663.1_Missense_Mutation_p.A267G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	328					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AAAATATCTGCCAGTTTACAG	0.423000													27	140					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192336	152192336	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:152192336C>T	ENST00000368801.2	-	3	1844	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	590					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGAGCGAGACTCTTG	0.557000													108	363					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111797686	111797686	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:111797686C>A	ENST00000452346.2	+	17	2325	c.2322C>A	c.(2320-2322)ctC>ctA	p.L774L	TMPRSS7_ENST00000419127.1_Silent_p.L648L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	774	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCGGATGCTCTGTGCAGGCA	0.468000													19	79					8.00594e-06	9.05696e-06	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237295	56237295	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:56237295G>A	ENST00000312240.2	-	1	719	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCTGCTGAGCGCATTCGCAGA	0.418000													17	101					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236143209	236143209	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:236143209G>T	ENST00000264187.6	-	18	3504	c.3422C>A	c.(3421-3423)cCc>cAc	p.P1141H	NID1_ENST00000366595.3_Missense_Mutation_p.P1008H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1141					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCGTCTGCTGGGCTGACTGGG	0.498000													21	60					8.10497e-08	9.75392e-08	1	1	0
CDH20	28316	broad.mit.edu	37	18	59170188	59170188	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:59170188G>T	ENST00000262717.4	+	5	1062	c.664G>T	c.(664-666)Gta>Tta	p.V222L	CDH20_ENST00000536675.2_Missense_Mutation_p.V222L|CDH20_ENST00000538374.1_Missense_Mutation_p.V222L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCCTCCAGGTGTAATTAGGAC	0.428000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	60					2.32416e-17	3.66199e-17	1	1	0
GRM5	2915	broad.mit.edu	37	11	88583080	88583080	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:88583080A>G	ENST00000418177.2	-	3	1272	c.905T>C	c.(904-906)cTg>cCg	p.L302P	GRM5_ENST00000393297.1_Missense_Mutation_p.L302P|GRM5_ENST00000455756.2_Missense_Mutation_p.L302P|GRM5_ENST00000305447.4_Missense_Mutation_p.L302P|GRM5_ENST00000305432.5_Missense_Mutation_p.L302P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	302					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCACCTGCCCAGAAGCAGAAA	0.488000													31	114					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511215	169511215	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:169511215G>T	ENST00000367796.3	-	13	3329	c.3128C>A	c.(3127-3129)aCa>aAa	p.T1043K	F5_ENST00000367797.3_Missense_Mutation_p.T1038K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1038	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGCATGGTGTGTGTGCTTCTC	0.398000													95	288					3.29526e-42	6.46093e-42	1	1	0
DAB1	1600	broad.mit.edu	37	1	57476405	57476405	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:57476405G>T	ENST00000371236.2	-	14	1894	c.1631C>A	c.(1630-1632)cCc>cAc	p.P544H	DAB1_ENST00000371231.1_Missense_Mutation_p.P577H|DAB1_ENST00000371234.4_Missense_Mutation_p.P544H|DAB1_ENST00000414851.2_Missense_Mutation_p.P526H|DAB1_ENST00000420954.2_Missense_Mutation_p.P542H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P458H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	577					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCACCACTGGGCTCCCCACT	0.448000													17	147					6.33239e-15	9.62964e-15	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60590276	60590276	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:60590276C>A	ENST00000400324.4	-	6	850	c.630G>T	c.(628-630)tgG>tgT	p.W210C	DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.W199C|DIAPH3_ENST00000400319.1_Missense_Mutation_p.W140C|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400330.1_Missense_Mutation_p.W210C|DIAPH3_ENST00000400320.1_Missense_Mutation_p.W164C|DIAPH3_ENST00000267215.4_Missense_Mutation_p.W210C	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	210	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGCTTTCCACCCAACTGAAAA	0.299000													7	22					0.000274275	0.000294077	1	1	0
TCTN1	79600	broad.mit.edu	37	12	111066806	111066806	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:111066806C>T	ENST00000550703.2	+	4	863	c.707C>T	c.(706-708)aCt>aTt	p.T236I	TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000551590.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	0					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ACCAGGAAAACTGGGTTCCTT	0.323000													12	29					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106840727	106840727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:106840727C>T	ENST00000276185.4	+	15	1717	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	573						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AAGGAAGGAGCAGGAAAGCCG	0.572000													8	98					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155264	22155264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:22155264C>A	ENST00000397126.4	-	4	2720	c.2572G>T	c.(2572-2574)Gag>Tag	p.E858*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTTCTCTCCAGTATGA	0.378000													33	77					4.3181e-19	6.96082e-19	1	1	0
SNORD113-6	767566	broad.mit.edu	37	14	101405914	101405914	+	RNA	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:101405914G>T	ENST00000363345.2	+	0	22					NR_003234.1																						TGAATATCATGGGGTTTCTGA	0.358000													11	51					3.86212e-05	4.22533e-05	1	1	0
OR6B3	150681	broad.mit.edu	37	2	240984704	240984704	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:240984704G>T	ENST00000319423.4	-	1	785	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CAATGGCCTGGGGCCGGACAT	0.542000													37	114					9.17885e-22	1.54382e-21	1	1	0
DSG3	1830	broad.mit.edu	37	18	29044073	29044073	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:29044073G>T	ENST00000257189.4	+	9	1082		c.e9-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTTTCTCCAGGCTCTAGATT	0.378000													22	43					7.41877e-09	9.38184e-09	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142564291	142564291	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:142564291G>T	ENST00000392957.2	+	10	2302	c.1515G>T	c.(1513-1515)acG>acT	p.T505T	EPHB6_ENST00000411471.2_Silent_p.T228T|EPHB6_ENST00000442129.1_Silent_p.T505T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	505	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACAGCATCACGGTGTCCTGGC	0.587000													42	119					8.16277e-20	1.33434e-19	1	1	0
RYR3	6263	broad.mit.edu	37	15	34078083	34078083	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:34078083G>C	ENST00000389232.4	+	66	9559	c.9489G>C	c.(9487-9489)aaG>aaC	p.K3163N	RYR3_ENST00000415757.3_Missense_Mutation_p.K3163N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3163					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGCACCAAGGTCACCTCTG	0.552000													80	157					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22149804	22149804	+	Translation_Start_Site	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:22149804A>T	ENST00000389397.4	+	0	2359				VWA3A_ENST00000389398.5_Missense_Mutation_p.R755W			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGCCCTCCCAGGCCCACCGT	0.512000													16	15					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431501	38431501	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:38431501C>A	ENST00000356264.2	-	19	1941	c.1726G>T	c.(1726-1728)Ggc>Tgc	p.G576C	AMPH_ENST00000428293.2_Missense_Mutation_p.G534C|AMPH_ENST00000325590.5_Missense_Mutation_p.G534C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	576					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTGGTGGGGCCCGGAGGAGCC	0.617000													21	38					7.45023e-12	1.04005e-11	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629909	9629909	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:9629909G>A	ENST00000382492.2	-	1	554	c.236C>T	c.(235-237)tCt>tTt	p.S79F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	79					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAATTCGCAGAACACATGAT	0.398000													6	61					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135399	55135399	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:55135399C>A	ENST00000314706.3	+	1	40	c.40C>A	c.(40-42)Cct>Act	p.P14T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATCACTGACCCTTTTGTTTG	0.433000													9	52					0.00448238	0.00466275	1	1	0
USP33	23032	broad.mit.edu	37	1	78187554	78187554	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:78187554T>A	ENST00000370793.1	-	15	2058	c.1712A>T	c.(1711-1713)gAt>gTt	p.D571V	USP33_ENST00000357428.1_Missense_Mutation_p.D571V|USP33_ENST00000370794.3_Missense_Mutation_p.D540V|USP33_ENST00000370792.3_Missense_Mutation_p.D563V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	571					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGCAAGACAATCTTGCAAGGT	0.368000													4	58					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734578	42734578	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:42734578G>T	ENST00000441594.1	-	11	1642	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	HHATL_ENST00000310417.5_Missense_Mutation_p.L461I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	461					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCTGTGAGTAGCAGGCGCCGG	0.567000													62	132					1.05635e-38	2.05385e-38	1	1	0
TBC1D25	4943	broad.mit.edu	37	X	48399815	48399815	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:48399815C>A	ENST00000376771.4	+	2	559	c.218C>A	c.(217-219)gCc>gAc	p.A73D	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_Missense_Mutation_p.A73D|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	73						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTCATCCGAGCCTTTGATTTG	0.547000													31	179					1.22384e-17	1.94587e-17	1	1	0
UCK2	7371	broad.mit.edu	37	1	165872471	165872471	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:165872471G>T	ENST00000367879.4	+	5	855	c.552G>T	c.(550-552)caG>caT	p.Q184H	UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	184					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTTTATCTCAGTACATTACGT	0.403000													36	107					9.39024e-22	1.57557e-21	1	1	0
GZMB	3002	broad.mit.edu	37	14	25102224	25102224	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:25102224A>T	ENST00000216341.4	-	2	206	c.100T>A	c.(100-102)Tac>Aac	p.Y34N	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.Y68N|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.Y22N|GZMB_ENST00000382540.1_Missense_Mutation_p.Y34N|GZMB_ENST00000526004.1_Missense_Mutation_p.Y34N			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	34	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TAAGCCATGTAGGGGCGGGAG	0.572000													21	154					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210416	228210416	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:228210416C>T	ENST00000284523.1	+	2	198	c.120C>T	c.(118-120)atC>atT	p.I40I	WNT3A_ENST00000366753.2_Silent_p.I40I	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	40					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGCAGCCCATCCTGTGTGCCA	0.637000													15	52					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117719076	117719076	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:117719076A>T	ENST00000276204.6	+	16	1865	c.1791A>T	c.(1789-1791)ttA>ttT	p.L597F	DOCK11_ENST00000276202.7_Missense_Mutation_p.L597F|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	597					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGTGGATTTATCAAGTAAGA	0.333000													12	60					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42761242	42761242	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:42761242A>T	ENST00000379274.2	+	14	1617	c.1188A>T	c.(1186-1188)aaA>aaT	p.K396N	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.K396N|DGKH_ENST00000337343.4_Missense_Mutation_p.K532N|DGKH_ENST00000261491.4_Missense_Mutation_p.K532N|DGKH_ENST00000540693.1_Missense_Mutation_p.K532N|DGKH_ENST00000538674.1_Missense_Mutation_p.K287N			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	532	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CGTATGACAAAACCTTGGAAA	0.413000													18	95					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053651	120053651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:120053651G>T	ENST00000313400.4	-	2	684	c.584C>A	c.(583-585)tCg>tAg	p.S195*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.S195*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.S195*			O75129	ASTN2_HUMAN	astrotactin 2	195						integral to membrane		p.S195L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACAATCTCCGAGGGCTCCTG	0.612000													23	38					2.39556e-15	3.68305e-15	1	1	0
DPP6	1804	broad.mit.edu	37	7	154561196	154561196	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:154561196T>C	ENST00000404039.1	+	9	1348	c.761T>C	c.(760-762)aTc>aCc	p.I254T	DPP6_ENST00000427557.1_Missense_Mutation_p.I211T|DPP6_ENST00000332007.3_Missense_Mutation_p.I256T|DPP6_ENST00000377770.3_Missense_Mutation_p.I318T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	318					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACGCCGCCATCAATGATTCC	0.532000													10	82					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645033	58645033	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:58645033G>T	ENST00000313426.1	+	3	310	c.4G>T	c.(4-6)Gtt>Ttt	p.V2F		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	2										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GGTTCTGATGGTTGCCCTGTT	0.562000													9	49					1.76689e-08	2.20625e-08	1	1	0
AKR1B10	57016	broad.mit.edu	37	7	134216769	134216769	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:134216769G>T	ENST00000359579.4	+	3	664	c.344G>T	c.(343-345)gGa>gTa	p.G115V	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	115					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGGCCACAGGGATTCAAGGTT	0.507000													83	231					9.43608e-27	1.71075e-26	1	1	0
GPR25	2848	broad.mit.edu	37	1	200842960	200842960	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:200842960C>A	ENST00000304244.2	+	1	878	c.795C>A	c.(793-795)gcC>gcA	p.A265A		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	265						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCCTGCGGGCCGTCTTCCACC	0.716000													16	40					1.3612e-06	1.57305e-06	1	1	0
SP140L	93349	broad.mit.edu	37	2	231256883	231256883	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:231256883G>T	ENST00000243810.6	+	12	1046	c.1046G>T	c.(1045-1047)aGa>aTa	p.R349I	SP140L_ENST00000444636.1_Missense_Mutation_p.R349I|SP140L_ENST00000396563.4_Missense_Mutation_p.R314I|SP140L_ENST00000415673.2_Missense_Mutation_p.R349I			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	349	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGCTACGCAAGATCAAAGAAC	0.512000													20	68					1.00905e-13	1.48277e-13	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197430492	197430492	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:197430492G>A	ENST00000273582.5	-	5	862	c.317C>T	c.(316-318)aCg>aTg	p.T106M	KIAA0226_ENST00000449205.1_Missense_Mutation_p.T166M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T166M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T166M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	166	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAGCATGGCCGTGACATGAGC	0.562000													22	38					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153615794	153615794	+	Silent	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:153615794G>C	ENST00000368694.3	+	5	807	c.495G>C	c.(493-495)ggG>ggC	p.G165G	CHTOP_ENST00000368687.1_Silent_p.G140G|CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000495554.1_Intron	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	165	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CTGGGAGAGGGGGCCTAGGGC	0.572000													32	206					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204723	66204723	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:66204723C>A	ENST00000503581.1	-	4	1118	c.581G>T	c.(580-582)tGg>tTg	p.W194L	EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000393380.2_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L|EYS_ENST00000370616.2_Missense_Mutation_p.W194L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	194	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTCTTGCTCCAAGCTTCACT	0.418000													19	42					3.51602e-12	4.93799e-12	1	1	0
ZRANB2	9406	broad.mit.edu	37	1	71544196	71544196	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:71544196C>T	ENST00000370920.3	-	3	463	c.162G>A	c.(160-162)aaG>aaA	p.K54K	ZRANB2_ENST00000254821.6_Silent_p.K54K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	54					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTGCAAGTGTCTTTCCTATTT	0.353000													29	170					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25416101	25416101	+	Missense_Mutation	SNP	C	C	T	rs149749991		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:25416101C>T	ENST00000315368.3	+	24	1841	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R568C	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	567					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GGATTCTACACGTAGATTGTT	0.289000													6	25					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525017	248525017	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248525017C>A	ENST00000366475.1	+	1	135	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGATTTCATCCTGTTGGGAC	0.473000													25	151					1.77063e-15	2.74036e-15	1	1	0
BAZ1B	9031	broad.mit.edu	37	7	72861646	72861646	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:72861646C>T	ENST00000339594.4	-	16	4130	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E	BAZ1B_ENST00000404251.1_Silent_p.E1264E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1264	Poly-Glu.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cttcttcctcctcctcctctt	0.423000													20	125					0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71063417	71063417	+	Missense_Mutation	SNP	T	T	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:71063417T>G	ENST00000256379.5	-	3	214	c.185A>C	c.(184-186)cAg>cCg	p.Q62P	MED6_ENST00000556044.1_Splice_Site|MED6_ENST00000554963.1_Missense_Mutation_p.Q62P|MED6_ENST00000440435.2_Missense_Mutation_p.Q62P|MED6_ENST00000430055.2_Missense_Mutation_p.Q62P|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	62					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCAACCATCTGACTGAAAAC	0.378000													6	33					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476604	28476604	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:28476604G>T	ENST00000383768.2	+	4	524	c.336G>T	c.(334-336)tgG>tgT	p.W112C	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.W112C			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	112	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGAAAGTTGGCCAGGAATAC	0.358000													28	55					3.65163e-15	5.58955e-15	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99771274	99771274	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:99771274G>A	ENST00000370185.3	+	7	1497	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	LPPR4_ENST00000457765.1_Missense_Mutation_p.D276N|LPPR4_ENST00000370184.1_Missense_Mutation_p.D176N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		334							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGCCCAGTGATGAGAGTAT	0.448000													51	102					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924446	88924446	+	Missense_Mutation	SNP	G	G	A	rs61754375		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:88924446G>A	ENST00000263321.5	+	2	1398	c.896G>A	c.(895-897)cGt>cAt	p.R299H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	299			R -> H (in OCA1A).|R -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTTTACGGCGTAATCCTGGA	0.468000													39	155					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112159498	112159498	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:112159498C>T	ENST00000455480.2	+	9	1286	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V	ACAD10_ENST00000549590.1_Missense_Mutation_p.A339V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.L2L|ACAD10_ENST00000313698.4_Missense_Mutation_p.A339V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	339							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTTGCAAATGCTGGAGTACCT	0.373000													7	88					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9956940	9956940	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:9956940G>A	ENST00000454190.2	+	16	1611	c.1526G>A	c.(1525-1527)gGg>gAg	p.G509E	IL17RE_ENST00000421412.1_Missense_Mutation_p.G518S|IL17RE_ENST00000295980.3_Missense_Mutation_p.G485S|IL17RE_ENST00000383814.3_Missense_Mutation_p.G485S	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0	SEFIR.					cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ACCAGGCCCGGGCCCAGCGCG	0.721000													4	2					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49399951	49399951	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:49399951C>A	ENST00000418115.1	-	4	770	c.386G>T	c.(385-387)cGg>cTg	p.R129L	RHOA_ENST00000422781.1_Missense_Mutation_p.R129L|RHOA_ENST00000454011.2_Missense_Mutation_p.G89W	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	129					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.R129L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GGCTAGCTCCCGCCTTGTGTG	0.527000													53	117					1.63038e-21	2.7225e-21	1	1	0
PMS1	5378	broad.mit.edu	37	2	190719671	190719671	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:190719671G>T	ENST00000441310.2	+	9	1906	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V	PMS1_ENST00000447232.2_Missense_Mutation_p.G558V|PMS1_ENST00000409823.3_Missense_Mutation_p.G519V|PMS1_ENST00000432292.3_Missense_Mutation_p.G382V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.G382V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	558					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATAAATCTGGAAAAGTTACA	0.303000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					33	70					2.80507e-11	3.8241e-11	1	1	0
VASH1	22846	broad.mit.edu	37	14	77242449	77242449	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:77242449C>A	ENST00000167106.4	+	5	1378	c.745C>A	c.(745-747)Cgc>Agc	p.R249S	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	249					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CGCCTACGGCCGCTGCTGGCA	0.667000													4	28					0.00024832	0.00026748	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114448905	114448905	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:114448905C>A	ENST00000297405.5	-	1	423		c.e1+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						AGCAGACCTACCTTTCACACA	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			91	228					1.45819e-31	2.73607e-31	1	1	0
LYST	1130	broad.mit.edu	37	1	235955264	235955264	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:235955264C>T	ENST00000389794.3	-	12	4452	c.4278G>A	c.(4276-4278)ttG>ttA	p.L1426L	LYST_ENST00000389793.2_Silent_p.L1426L|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1426					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGCTCTTCTCAATAAACCCA	0.463000													72	205					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113740137	113740137	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:113740137G>T	ENST00000512097.3	+	4	1603	c.585G>T	c.(583-585)ttG>ttT	p.L195F	KCNN2_ENST00000264773.3_Missense_Mutation_p.L195F|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	195						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTTTTCAGTTGTTCATGGTGG	0.383000													23	80					1.64293e-13	2.39409e-13	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143220	56143220	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:56143220G>A	ENST00000302270.1	+	1	121	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CACAGTGGTAGGCAACTTGGG	0.448000													28	200					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429107	23429107	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:23429107G>A	ENST00000519973.1	+	4	954	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	252					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CGGCCGCCACGACCCCCCTGG	0.662000													4	25					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34869519	34869519	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:34869519T>A	ENST00000431794.3	-	10	1292	c.770A>T	c.(769-771)gAg>gTg	p.E257V	MYO19_ENST00000544606.1_Missense_Mutation_p.E123V|MYO19_ENST00000268852.9_Missense_Mutation_p.E257V|MYO19_ENST00000586007.1_Missense_Mutation_p.E257V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	257	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCAGCTCCCTCAGGAAGGTG	0.607000													8	14					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65358034	65358034	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:65358034C>T	ENST00000309295.4	+	16	4519	c.4254C>T	c.(4252-4254)ctC>ctT	p.L1418L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1418										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGAACGCTCTCATCCGGAGGC	0.572000													6	55					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734045	39734045	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:39734045C>A	ENST00000395670.3	-	16	2651	c.2232G>T	c.(2230-2232)agG>agT	p.R744S	KIF21A_ENST00000541463.2_Missense_Mutation_p.R731S|KIF21A_ENST00000544797.2_Missense_Mutation_p.R731S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R731S|KIF21A_ENST00000361418.5_Missense_Mutation_p.R744S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	744					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTAAGCAACCTTGCATGTT	0.328000													13	39					1.5842e-08	1.98523e-08	1	1	0
ULK1	8408	broad.mit.edu	37	12	132396624	132396624	+	Silent	SNP	G	G	T	rs143274719	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:132396624G>T	ENST00000321867.4	+	13	1437	c.1086G>T	c.(1084-1086)gcG>gcT	p.A362A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	362	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGTCCCCGCGCAGTTTCCAG	0.622000													5	19					3.59834e-05	3.94912e-05	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133584700	133584700	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:133584700C>A	ENST00000519595.1	-	12	1353	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D419Y			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	419						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGCTAGGGTCTACTTCTAGT	0.373000													34	149					2.08457e-15	3.21198e-15	1	1	0
BARD1	580	broad.mit.edu	37	2	215645722	215645722	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:215645722C>T	ENST00000260947.4	-	4	1010	c.876G>A	c.(874-876)aaG>aaA	p.K292K	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.K148K	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	292					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTCCTGCTCTTAGTGTCTG	0.388000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	110					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147245	77147245	+	Missense_Mutation	SNP	A	A	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:77147245A>C	ENST00000461745.1	+	2	1042	c.142A>C	c.(142-144)Acg>Ccg	p.T48P	ROBO2_ENST00000487694.3_Missense_Mutation_p.T64P|ROBO2_ENST00000332191.8_Missense_Mutation_p.T48P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	48	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGGCGAGCCCACGACTCTGAA	0.587000													8	50					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172198	95172198	+	Splice_Site	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:95172198C>T	ENST00000027335.3	-	12	1676		c.e12+1		CDH17_ENST00000441892.2_Splice_Site|CDH17_ENST00000450165.2_Splice_Site	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)							integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGGCTATTTACCTTTTTAATT	0.378000													20	67					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374423	81374423	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:81374423G>T	ENST00000222390.5	-	6	865	c.639C>A	c.(637-639)acC>acA	p.T213T	HGF_ENST00000444829.2_Silent_p.T213T|HGF_ENST00000457544.2_Silent_p.T208T|HGF_ENST00000453411.1_Silent_p.T208T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	213	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCCATTGCAGGTCATGCATT	0.408000													39	45					1.03484e-13	1.51747e-13	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507088	74507088	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:74507088G>T	ENST00000354431.4	-	7	1718	c.1527C>A	c.(1525-1527)tcC>tcA	p.S509S	LRRIQ3_ENST00000395089.1_Silent_p.S509S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										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						AAGCCTTTTGGGATTTTTCTT	0.363000													38	128					1.07637e-12	1.53327e-12	1	1	0
JAK3	3718	broad.mit.edu	37	19	17942126	17942126	+	Silent	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:17942126G>C	ENST00000458235.1	-	21	2988	c.2889C>G	c.(2887-2889)gtC>gtG	p.V963V	JAK3_ENST00000534444.1_Silent_p.V963V|JAK3_ENST00000527670.1_Silent_p.V963V	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	963	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGCGATCTTGACGTGTGCCT	0.657000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								25	115					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256553	240256553	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:240256553C>G	ENST00000319653.9	+	1	1374	c.1144C>G	c.(1144-1146)Ccg>Gcg	p.P382A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	382					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGAAGAGCCGGAGGAGGA	0.726000													5	15					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389736	56389736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:56389736C>A	ENST00000355701.3	-	17	3316	c.2446G>T	c.(2446-2448)Gag>Tag	p.E816*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.E816*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E756*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	816	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCACTTGCTCAGGAGGCGGC	0.687000													9	16					4.68919e-08	5.72212e-08	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51824738	51824738	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:51824738G>A	ENST00000371117.3	-	36	6113	c.5838C>T	c.(5836-5838)gtC>gtT	p.V1946V	PKHD1_ENST00000340994.4_Silent_p.V1946V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1946	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCCACTGTGACGTTGTCGC	0.463000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	131					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009398	9009398	+	Silent	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:9009398A>G	ENST00000377443.2	+	2	160	c.156A>G	c.(154-156)ctA>ctG	p.L52L	CA6_ENST00000319474.2_Silent_p.L52L|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Silent_p.L52L	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	52					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTATCAACCTACAGAGGACGA	0.577000													4	44					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19780715	19780715	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:19780715A>T	ENST00000269216.3	+	7	1994	c.1717A>T	c.(1717-1719)Agt>Tgt	p.S573C	GATA6_ENST00000581694.1_Missense_Mutation_p.S573C|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	573					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CATAGGCGTCAGTCTCGCCTC	0.672000													17	38					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45385002	45385002	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:45385002C>A	ENST00000559488.1	+	14	2316	c.2301_splice	c.e14+1	p.T767_splice	ITGB3_ENST00000560629.1_Splice_Site_p.H755_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T720_splice|RP11-290H9.4_ENST00000575039.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	767					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AAATGGGACACAGTAAGAGAC	0.512000													4	31					0.00909568	0.00930907	1	1	0
TTN	7273	broad.mit.edu	37	2	179593035	179593035	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:179593035C>A	ENST00000589042.1	-	67	19740	c.19516G>T	c.(19516-19518)Ggt>Tgt	p.G6506C	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6189C|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5262C|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6189	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAGTGAACCAGACACCTTG	0.393000													15	49					6.31663e-08	7.64126e-08	1	1	0
MARC2	54996	broad.mit.edu	37	1	220936352	220936352	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:220936352G>T	ENST00000366913.3	+	4	908	c.710G>T	c.(709-711)aGg>aTg	p.R237M	MARC2_ENST00000359316.2_Missense_Mutation_p.R237M	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	237	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GAGAATTTCAGGCCAAATATT	0.502000													14	66					2.31682e-05	2.56282e-05	1	1	0
TAF1	6872	broad.mit.edu	37	X	70612819	70612819	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:70612819G>A	ENST00000449580.1	+	20	3074	c.3023G>A	c.(3022-3024)cGt>cAt	p.R1008H	TAF1_ENST00000276072.3_Missense_Mutation_p.R1029H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1029H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1008H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1008					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACTTCTACGTAAATTTGGT	0.453000													35	238					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	rs61745111	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:5042837C>T	ENST00000574788.1	+	22	3596	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000250066.6_Missense_Mutation_p.R456W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	456					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R456W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCAATGCCCCGGCTCCCAAC	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	85					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123217270	123217270	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:123217270G>T	ENST00000371160.1	+	29	3214		c.e29-1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site			Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCCTTTGCAGAGATGGCATA	0.333000													9	69					9.70103e-10	1.25395e-09	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70518717	70518717	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:70518717C>A	ENST00000310961.5	+	23	4297	c.3879C>A	c.(3877-3879)tcC>tcA	p.S1293S	LRRC7_ENST00000035383.5_Silent_p.S1335S|LRRC7_ENST00000415775.2_Silent_p.S619S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1335						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACCCCGTCCCAGCAAAGCA	0.418000													50	120					2.0833e-19	3.39753e-19	1	1	0
XPO4	64328	broad.mit.edu	37	13	21396392	21396392	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:21396392G>T	ENST00000400602.2	-	8	912	c.877C>A	c.(877-879)Caa>Aaa	p.Q293K	XPO4_ENST00000255305.6_Missense_Mutation_p.Q293K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	293					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGAGAATCTTGTGCCATATCT	0.403000													15	56					0.0202918	0.0207375	1	1	0
CAND1	55832	broad.mit.edu	37	12	67675717	67675717	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:67675717G>T	ENST00000545606.1	+	2	533	c.96G>T	c.(94-96)acG>acT	p.T32T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	32					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATTTGATGACGGAACTGCAGA	0.264000													26	86					4.87955e-14	7.26211e-14	1	1	0
NEB	4703	broad.mit.edu	37	2	152579940	152579940	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:152579940G>C	ENST00000397345.3	-	9	875	c.673C>G	c.(673-675)Ccg>Gcg	p.P225A	NEB_ENST00000603639.1_Missense_Mutation_p.P225A|NEB_ENST00000409198.1_Missense_Mutation_p.P225A|NEB_ENST00000604864.1_Missense_Mutation_p.P225A|NEB_ENST00000427231.2_Missense_Mutation_p.P225A|NEB_ENST00000172853.10_Missense_Mutation_p.P225A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	225					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCAGTTCCGGGCTATCATTA	0.443000													13	19					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508460	106508460	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:106508460C>A	ENST00000359195.3	+	2	764	c.454C>A	c.(454-456)Cgg>Agg	p.R152R	PIK3CG_ENST00000440650.2_Silent_p.R152R|PIK3CG_ENST00000496166.1_Silent_p.R152R	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	152					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCTTCCAGCGGCAGCTCAC	0.667000													5	41					0.00198382	0.00208226	1	1	0
PPARD	5467	broad.mit.edu	37	6	35392494	35392494	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:35392494A>G	ENST00000311565.4	+	8	1365	c.1016A>G	c.(1015-1017)aAc>aGc	p.N339S	PPARD_ENST00000444397.1_Missense_Mutation_p.N339S|PPARD_ENST00000337400.2_Missense_Mutation_p.N339S|PPARD_ENST00000418635.2_Missense_Mutation_p.N241S|PPARD_ENST00000540939.1_Missense_Mutation_p.N236S|PPARD_ENST00000360694.3_Missense_Mutation_p.N339S|PPARD_ENST00000448077.2_Missense_Mutation_p.N300S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	339	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GTCAAGTTCAACGCCCTGGAA	0.552000													14	34					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	213403195	213403195	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:213403195G>T	ENST00000342788.4	-	1	370	c.60C>A	c.(58-60)gtC>gtA	p.V20V	ERBB4_ENST00000436443.1_Silent_p.V20V|ERBB4_ENST00000402597.1_Silent_p.V20V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	20					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V20V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGCTGGGCTGGACGGTCCCCG	0.632000										TSP Lung(8;0.080)			25	98					7.38237e-10	9.5601e-10	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41711343	41711343	+	Splice_Site	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr21:41711343C>T	ENST00000400454.1	-	7	1688		c.e7-1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGTTCCATCTGCAGGAAAA	0.413000													7	21					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5997168	5997168	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:5997168T>A	ENST00000303657.5	-	16	2065	c.1916A>T	c.(1915-1917)cAc>cTc	p.H639L	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.H639L|RFX2_ENST00000592546.1_Missense_Mutation_p.H614L	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGATGAGGTGGAAGGAGCC	0.657000													12	29					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16552758	16552758	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:16552758C>A	ENST00000380672.4	-	5	496	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	BNC2_ENST00000380666.2_Missense_Mutation_p.D147Y|BNC2_ENST00000545497.1_Missense_Mutation_p.D52Y|BNC2_ENST00000380667.2_Missense_Mutation_p.D80Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGAGCTTATCCAAGGCTGTG	0.512000													44	57					9.84934e-19	1.58042e-18	1	1	0
PORCN	64840	broad.mit.edu	37	X	48368223	48368223	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:48368223C>A	ENST00000359882.4	+	2	194	c.15C>A	c.(13-15)agC>agA	p.S5R	PORCN_ENST00000355092.3_Missense_Mutation_p.S5R|PORCN_ENST00000355961.4_Missense_Mutation_p.S5R|PORCN_ENST00000537758.1_Missense_Mutation_p.S5R|PORCN_ENST00000326194.6_Missense_Mutation_p.S5R|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000361988.3_Missense_Mutation_p.S5R			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	5					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTTTAGCCGCCAGGAAT	0.602000													6	38					8.12818e-05	8.85097e-05	1	1	0
CD96	10225	broad.mit.edu	37	3	111325562	111325562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:111325562C>A	ENST00000352690.4	+	8	1343	c.1103C>A	c.(1102-1104)tCa>tAa	p.S368*	CD96_ENST00000438817.2_Nonsense_Mutation_p.S368*|CD96_ENST00000283285.5_Nonsense_Mutation_p.S384*	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	384	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAAATTTCCTCAACAGACCCT	0.363000									Opitz Trigonocephaly syndrome				12	115					9.05144e-12	1.25855e-11	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78055573	78055573	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:78055573C>T	ENST00000397545.4	+	11	1818	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	CCDC40_ENST00000374877.3_Silent_p.L597L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	597					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGATGCCCTCAGCCAGGACC	0.647000													14	28					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71533893	71533893	+	Missense_Mutation	SNP	T	T	A	rs140284675	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:71533893T>A	ENST00000261413.5	-	5	383	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	MRPS27_ENST00000457646.4_Missense_Mutation_p.Q59L|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.Q129L|MRPS27_ENST00000515404.1_Missense_Mutation_p.Q59L	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	115						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTTTAGACACTGCCTAATCCA	0.433000													20	60					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985237	140985237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:140985237G>T	ENST00000298296.1	+	7	1693	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.E187*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E267*|MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.E267*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E267*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	565	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGTCCCCGAGGAGGTCAT	0.498000													27	154					2.41591e-17	3.79799e-17	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145379663	145379663	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:145379663C>A	ENST00000511217.1	+	2	473	c.421C>A	c.(421-423)Ccc>Acc	p.P141T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P141T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	141	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCAGAATCCCGGTGACCT	0.473000													42	38					1.02687e-29	1.89617e-29	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233404810	233404810	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:233404810T>A	ENST00000389494.3	+	2	185	c.164T>A	c.(163-165)cTg>cAg	p.L55Q	CHRNG_ENST00000389492.3_Missense_Mutation_p.L55Q	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	55					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AATGTCAGCCTGAAGCTAACC	0.642000													15	36					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908063	164908063	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:164908063G>T	ENST00000475390.1	-	2	999	c.556C>A	c.(556-558)Ccc>Acc	p.P186T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P186T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	186						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGAAGCATGGGGATGAGATTA	0.378000										HNSCC(40;0.11)			34	84					8.16721e-17	1.27819e-16	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113988287	113988287	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:113988287G>T	ENST00000297405.5	-	7	1365	c.1121C>A	c.(1120-1122)cCt>cAt	p.P374H	CSMD3_ENST00000352409.3_Missense_Mutation_p.P374H|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P334H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	374						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						AACATCTGCAGGTGTGCTAGC	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	110					2.05212e-20	3.38624e-20	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20140047	20140047	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:20140047G>T	ENST00000245957.5	+	10	1061	c.985G>T	c.(985-987)Gct>Tct	p.A329S	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.A329S|C20orf26_ENST00000377306.1_Missense_Mutation_p.A329S|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	329										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCCGAGGAAGCTTTAACAGC	0.473000													7	74					0.00198382	0.00208226	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588911	204588911	+	Silent	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:204588911G>C	ENST00000367175.1	-	1	2422	c.210C>G	c.(208-210)ggC>ggG	p.G70G	LRRN2_ENST00000367177.3_Silent_p.G70G|LRRN2_ENST00000367176.3_Silent_p.G70G			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	70					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGTCTGTGTGCCTGCGGGGA	0.627000													16	75					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045847	167045847	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:167045847A>T	ENST00000392766.2	-	11	1085	c.745T>A	c.(745-747)Tgt>Agt	p.C249S	ZBBX_ENST00000307529.5_Missense_Mutation_p.C249S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.C249S|ZBBX_ENST00000392764.1_Missense_Mutation_p.C220S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C249S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	249						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GACCCTTCACACAACAGACTC	0.363000													56	179					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532342	50532342	+	Silent	SNP	T	T	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:50532342T>G	ENST00000374144.3	+	3	2040	c.1752T>G	c.(1750-1752)tcT>tcG	p.S584S	C10orf71_ENST00000323868.4_Silent_p.S584S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	584										endometrium(1)	1						GTGAGCCCTCTGCAGACAGCT	0.537000													9	38					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009429	201009429	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:201009429G>A	ENST00000362061.3	-	43	5526	c.5300C>T	c.(5299-5301)cCc>cTc	p.P1767L	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1748L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1767					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGCTGTGGGGTGTCTCCTC	0.577000													9	16					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687276	21687276	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:21687276G>A	ENST00000398485.2	+	2	541	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.G139R	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	163	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CATTCTGCCCGGGGCCATCGG	0.642000													13	65					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553669	19553669	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:19553669G>A	ENST00000409832.3	+	1	305	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	85										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTTCTGGAGACCACGACGA	0.597000													84	445					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171478	39171478	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:39171478C>T	ENST00000297668.6	-	8	1294	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	CNTNAP3_ENST00000358144.2_Silent_p.L319L|CNTNAP3_ENST00000377659.1_Silent_p.L407L|CNTNAP3_ENST00000323947.7_Silent_p.L407L|CNTNAP3_ENST00000377656.2_Silent_p.L407L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	407	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGCCGAAAAGCAAATGTCCTG	0.507000													9	88					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159672374	159672374	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:159672374G>T	ENST00000297267.9	+	17	5075	c.4875G>T	c.(4873-4875)ccG>ccT	p.P1625P	FNDC1_ENST00000340366.6_Silent_p.P1562P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1625						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATCAGCCCCGTGCTCTCTGA	0.498000													9	31					2.17888e-05	2.41406e-05	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51171707	51171707	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:51171707G>T	ENST00000293441.1	-	22	3528	c.3510C>A	c.(3508-3510)cgC>cgA	p.R1170R	SHANK1_ENST00000391813.1_Silent_p.R557R|SHANK1_ENST00000359082.3_Silent_p.R1161R|SHANK1_ENST00000391814.1_Silent_p.R1178R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1170					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTGGCTGCTGCGGCCGCTGC	0.776000													10	16					1.36491e-13	1.99729e-13	1	1	0
CMPK2	129607	broad.mit.edu	37	2	6991788	6991788	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:6991788G>A	ENST00000256722.5	-	4	1018	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	CMPK2_ENST00000404168.1_Missense_Mutation_p.A340V|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	340					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTGGCTATGGCATAGGTGGC	0.562000													11	69					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989090	134989090	+	Missense_Mutation	SNP	A	A	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:134989090A>C	ENST00000535938.1	+	8	909	c.742A>C	c.(742-744)Acc>Ccc	p.T248P	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.T248P|SAGE1_ENST00000370709.3_Missense_Mutation_p.T248P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	248										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCCAGATGCTACCATCACTTA	0.443000													61	109					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003807	57003807	+	Missense_Mutation	SNP	G	G	C	rs144399813	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:57003807G>C	ENST00000606794.1	-	1	868	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	224						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTTGGGCGATGAAGAAGT	0.622000													21	65					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357161	38357161	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:38357161T>A	ENST00000379705.3	-	2	1167	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	TRPC4_ENST00000426868.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379673.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379679.1_Missense_Mutation_p.I104F|TRPC4_ENST00000379681.3_Missense_Mutation_p.I104F|TRPC4_ENST00000338947.5_Missense_Mutation_p.I104F|TRPC4_ENST00000358477.2_Missense_Mutation_p.I104F|TRPC4_ENST00000447043.1_Missense_Mutation_p.I104F|TRPC4_ENST00000355779.2_Missense_Mutation_p.I104F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	104	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.I104F(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTTTCTGATAGCATGTAAT	0.363000													31	49					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059675	248059675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248059675G>T	ENST00000537741.1	+	3	1044	c.787G>T	c.(787-789)Gga>Tga	p.G263*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.G263*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGCAGCCAGGAGCCAGTTC	0.527000													39	105					2.26627e-22	3.86763e-22	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50094323	50094323	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:50094323C>T	ENST00000376042.1	+	12	4342	c.4044C>T	c.(4042-4044)ttC>ttT	p.F1348F	CCNB3_ENST00000348603.2_Silent_p.F244F|CCNB3_ENST00000276014.7_Silent_p.F1348F|CCNB3_ENST00000376038.1_Silent_p.F244F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1348					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGCTGACTTTCAGTTCTTACG	0.473000													85	217					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73041465	73041465	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:73041465C>A	ENST00000604411.1	+	0	29426				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAATTCAGAACAAAGGCAGGT	0.418000													9	21					0.0477658	0.0486013	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32635154	32635154	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:32635154C>A	ENST00000242310.4	-	1	513	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	142					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCATCATAGTCATCTTCATCA	0.478000													55	111					7.36392e-32	1.38919e-31	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57176384	57176384	+	Silent	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:57176384T>A	ENST00000537055.2	-	2	414	c.183A>T	c.(181-183)ccA>ccT	p.P61P		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						ATATGGTTCTTGGGATTCGGC	0.622000													4	55					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936638	4936638	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:4936638C>G	ENST00000322013.3	-	1	284	c.256G>C	c.(256-258)Gtc>Ctc	p.V86L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGCCCAGGACTGTAGGGAGA	0.483000													9	25					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68606440	68606440	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:68606440G>A	ENST00000420975.2	-	3	616	c.617C>T	c.(616-618)aCt>aTt	p.T206I	RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000226413.4_Silent_p.L249L|RP11-453E17.1_ENST00000502758.1_RNA	NM_001012763.1	NP_001012781.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	0					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TTCAGTTGTAGTTCTGTTGGA	0.388000													43	272					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187491	140187491	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140187491C>G	ENST00000530339.1	+	1	719	c.719C>G	c.(718-720)cCa>cGa	p.P240R	PCDHA4_ENST00000512229.2_Missense_Mutation_p.P240R|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P240R	NM_018907.2	NP_061730.1												p.P240Q(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAATGCCCCAGCTTTTGAC	0.418000													50	72					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918365	70918365	+	Missense_Mutation	SNP	A	A	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:70918365A>C	ENST00000334414.6	-	33	6555	c.6511T>G	c.(6511-6513)Tat>Gat	p.Y2171D	RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.Y1863D|PTPRB_ENST00000451516.2_Missense_Mutation_p.Y1863D|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.Y1953D|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.Y2083D|PTPRB_ENST00000550857.1_Missense_Mutation_p.Y1863D|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1953					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTAGACATACTGACACTGT	0.408000													12	58					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774529	122774529	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:122774529G>T	ENST00000194130.2	-	8	906	c.867C>A	c.(865-867)ttC>ttA	p.F289L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	289						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGGCAGCTGGGAAGGAAAACG	0.428000													27	73					1.77063e-15	2.74036e-15	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168115654	168115654	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:168115654A>T	ENST00000409728.1	+	11	2786	c.2697A>T	c.(2695-2697)aaA>aaT	p.K899N	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.K866N|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K866N|XIRP2_ENST00000409605.1_Missense_Mutation_p.K644N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K899N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAATTAAAAATATGCCAT	0.328000													40	74					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008416	16008416	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:16008416G>T	ENST00000221700.5	-	2	101	c.6C>A	c.(4-6)tcC>tcA	p.S2S	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Silent_p.S2S	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	2					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCTCAGCTGGGACATCCTGC	0.687000													27	37					2.79863e-10	3.70673e-10	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49067840	49067840	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:49067840C>G	ENST00000376265.2	-	36	4296	c.4235G>C	c.(4234-4236)tGt>tCt	p.C1412S	CACNA1F_ENST00000376251.1_Missense_Mutation_p.C1347S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.C1401S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1412	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATTGCTACCACAGGTAAACTC	0.537000													9	79					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62503856	62503856	+	Silent	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:62503856T>A	ENST00000383710.4	-	14	2710	c.2361A>T	c.(2359-2361)cgA>cgT	p.R787R	CADPS_ENST00000283269.9_Silent_p.R787R|CADPS_ENST00000357948.3_Silent_p.R770R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	787					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTAGCAGAACTCGGAGCCTCT	0.413000													7	112					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492128	54492128	+	Splice_Site	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:54492128C>T	ENST00000375135.3	-	7	2231		c.e7+1			NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGACCACTTACCTGCACCTCA	0.562000													16	37					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503207	140503207	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140503207G>A	ENST00000194152.1	+	1	1627	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		543	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.687000													39	66					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25686963	25686963	+	Splice_Site	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:25686963T>C	ENST00000264331.4	-	2	69		c.e2-2		TOP2B_ENST00000435706.2_Intron	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa						DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAAAAGAGTCTAAAATTAACC	0.328000													12	18					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292463	43292463	+	Missense_Mutation	SNP	G	G	C	rs145513181		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:43292463G>C	ENST00000374518.4	+	10	1834	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	591					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTTGCATCTGAAGATGAATC	0.448000													11	76					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	650783	650783	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:650783T>A	ENST00000255622.6	+	9	1271	c.1228T>A	c.(1228-1230)Ttt>Att	p.F410I	PDE6B_ENST00000496514.1_Missense_Mutation_p.F410I|PDE6B_ENST00000429163.2_Missense_Mutation_p.F131I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	410	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGGGAAGCCCTTTGACGAACA	0.597000													20	54					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067282	190067282	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:190067282G>T	ENST00000367462.3	-	8	2398	c.2167C>A	c.(2167-2169)Ctt>Att	p.L723I	FAM5C_ENST00000534846.1_Missense_Mutation_p.L621I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		723						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAAGAGAAAAGATCTAGACGA	0.478000													13	111					2.27111e-07	2.67776e-07	1	1	0
AMTN	401138	broad.mit.edu	37	4	71388529	71388529	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:71388529C>A	ENST00000339336.4	+	3	242	c.112C>A	c.(112-114)Cta>Ata	p.L38I	AMTN_ENST00000504451.1_Missense_Mutation_p.L37I	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	38					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCAGGGAACACTACCAAACCA	0.423000													71	205					3.13765e-25	5.58695e-25	1	1	0
NTS	4922	broad.mit.edu	37	12	86276089	86276089	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:86276089G>A	ENST00000256010.6	+	4	556	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	NTS_ENST00000551529.1_Missense_Mutation_p.R75Q	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	150					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						ATTCTGAAACGGCAGCTGTAT	0.323000													53	177					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113348951	113348951	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:113348951G>T	ENST00000297405.5	-	44	7193	c.6949C>A	c.(6949-6951)Cct>Act	p.P2317T	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2247T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2213T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2277T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2317	CUB 13.					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						CCATTCCCAGGGGGTACTCTT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			59	152					5.73376e-24	1.01321e-23	1	1	0
BECN1	8678	broad.mit.edu	37	17	40975821	40975821	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:40975821C>T	ENST00000361523.4	-	2	207	c.75G>A	c.(73-75)ctG>ctA	p.L25L	BECN1_ENST00000438274.3_Silent_p.L25L|BECN1_ENST00000590099.1_Silent_p.L25L	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	25					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTCCAGTTTCAGGGGCTGGC	0.562000													19	90					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894340	123894340	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:123894340G>T	ENST00000375024.1	+	1	621	c.621G>T	c.(619-621)tcG>tcT	p.S207S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGTGGCCTCGGGCTGCTTTC	0.547000													24	153					6.27289e-28	1.15223e-27	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62845286	62845286	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:62845286T>A	ENST00000512091.1	+	17	3354	c.2607T>A	c.(2605-2607)agT>agA	p.S869R	LPHN3_ENST00000508946.1_Missense_Mutation_p.S869R|LPHN3_ENST00000506720.1_Missense_Mutation_p.S937R|LPHN3_ENST00000514996.1_Missense_Mutation_p.S869R|LPHN3_ENST00000506746.1_Missense_Mutation_p.S937R|LPHN3_ENST00000506700.1_Missense_Mutation_p.S869R|LPHN3_ENST00000514591.1_Missense_Mutation_p.S869R|LPHN3_ENST00000509896.1_Missense_Mutation_p.S937R|LPHN3_ENST00000545650.1_Missense_Mutation_p.S869R|LPHN3_ENST00000507164.1_Missense_Mutation_p.S937R|LPHN3_ENST00000507625.1_Missense_Mutation_p.S937R|LPHN3_ENST00000514157.1_Missense_Mutation_p.S869R|LPHN3_ENST00000508693.1_Missense_Mutation_p.S937R|LPHN3_ENST00000511324.1_Missense_Mutation_p.S937R|LPHN3_ENST00000504896.1_Missense_Mutation_p.S869R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	856					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCCAGCACAGTGATGCGGTCC	0.413000													72	170					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118365	58118365	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:58118365C>T	ENST00000373944.3	-	7	782	c.744G>A	c.(742-744)gaG>gaA	p.E248E	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Silent_p.E128E|ZWINT_ENST00000395405.1_Silent_p.E248E|ZWINT_ENST00000361148.6_Silent_p.E201E			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	248					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTGTACTCTGCTCCTGGGGTC	0.557000													22	65					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33653500	33653500	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:33653500C>A	ENST00000399362.4	-	13	1734	c.1381G>T	c.(1381-1383)Gtg>Ttg	p.V461L	CLASP2_ENST00000333778.6_Missense_Mutation_p.V238L|CLASP2_ENST00000468888.2_Missense_Mutation_p.V462L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000539981.1_Missense_Mutation_p.V213L|CLASP2_ENST00000461133.3_Missense_Mutation_p.V228L|CLASP2_ENST00000487200.1_Missense_Mutation_p.V234L|CLASP2_ENST00000359576.5_Missense_Mutation_p.V461L|CLASP2_ENST00000480013.1_Missense_Mutation_p.V228L|CLASP2_ENST00000313350.6_Missense_Mutation_p.V234L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	462										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TACCTCCTCACGGGAACTGAT	0.323000													4	22					0.00909568	0.00930907	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8871907	8871907	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:8871907T>A	ENST00000256707.3	-	30	4440	c.4259A>T	c.(4258-4260)cAg>cTg	p.Q1420L	KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q1401L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q1401L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Q1321L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1420					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATGAACTCTGACCCATGTA	0.463000													25	188					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32380207	32380207	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:32380207C>A	ENST00000265069.8	-	16	2815	c.2713G>T	c.(2713-2715)Gct>Tct	p.A905S	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	905	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TGGCGTAGAGCAGCCAGAGCG	0.448000													8	84					5.4927e-09	6.99618e-09	1	1	0
DSC1	1823	broad.mit.edu	37	18	28722002	28722002	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:28722002G>T	ENST00000257197.3	-	9	1481	c.1220C>A	c.(1219-1221)aCa>aAa	p.T407K	DSC1_ENST00000257198.5_Missense_Mutation_p.T407K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	407	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGGATCTGTGCTAATTAT	0.358000													45	73					5.34276e-22	9.05156e-22	1	1	0
DCT	1638	broad.mit.edu	37	13	95112480	95112480	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:95112480C>A	ENST00000377028.5	-	6	1457	c.1043_splice	c.e6-1	p.R348_splice	DCT_ENST00000446125.1_Splice_Site_p.R348_splice	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	348					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CCAAAGCATTCCTAGGAGAAA	0.388000													15	39					1.5739e-10	2.10456e-10	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377146	180377146	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:180377146G>T	ENST00000340184.4	+	8	1311	c.1105G>T	c.(1105-1107)Gtg>Ttg	p.V369L	BTNL8_ENST00000511704.1_Missense_Mutation_p.V253L|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.V162L|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.V244L|BTNL8_ENST00000533815.2_Missense_Mutation_p.V185L	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	369	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGAGTACGTGACTTTGTC	0.507000													58	41					2.27459e-33	4.32606e-33	1	1	0
BPIFB6	128859	broad.mit.edu	37	20	31627263	31627263	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:31627263C>A	ENST00000349552.1	+	10	1011	c.1011C>A	c.(1009-1011)acC>acA	p.T337T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	337						extracellular region	lipid binding										TCCACAGCACCCTGGAGATGT	0.527000													25	133					7.41945e-09	9.38184e-09	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13814734	13814734	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:13814734C>A	ENST00000265104.4	-	43	7314	c.7210G>T	c.(7210-7212)Gat>Tat	p.D2404Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2404	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGACTCCAATCAAGGATAGAA	0.363000									Kartagener syndrome				14	53					9.31168e-06	1.05001e-05	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89016684	89016684	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:89016684T>A	ENST00000515655.1	-	14	2062	c.1715A>T	c.(1714-1716)gAt>gTt	p.D572V	ABCG2_ENST00000237612.3_Silent_p.R575R	NM_001257386.1	NP_001244315.1	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	0	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAAATCCATATCGTGGAATGC	0.418000													9	53					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70764462	70764462	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:70764462C>T	ENST00000373719.3	+	4	725	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	OGT_ENST00000373701.3_Silent_p.L160L|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	170					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCTCAAAGCCCTGGGTCGCTT	0.398000													4	38					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53423454	53423454	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:53423454C>T	ENST00000322213.4	-	17	2773	c.2646G>A	c.(2644-2646)tcG>tcA	p.S882S		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	882					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTCACTTCCGACTTCTTGG	0.512000													24	102					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3458664	3458664	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:3458664G>C	ENST00000268655.4	+	3	1554	c.969G>C	c.(967-969)aaG>aaC	p.K323N	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.K323N	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	323					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTCAGCAAAGAAACCCTACA	0.502000													8	55					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733336	106733336	+	RNA	SNP	C	C	T	rs139283249	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:106733336C>T	ENST00000390610.2	-	0	218																											GCACCCAGTGCATGGATAATT	0.542000													9	100					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309079	24309079	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:24309079G>C	ENST00000357002.4	+	4	392	c.277G>C	c.(277-279)Gac>Cac	p.D93H	ZNF254_ENST00000342944.6_Missense_Mutation_p.D8H	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	93			D -> G (in dbSNP:rs17854260).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTTTGCTCAAGACCTTTGGCC	0.318000													5	93					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21909479	21909479	+	RNA	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:21909479C>G	ENST00000581223.2	+	0	204					NR_027084.1																						GCACATTGTCCGGCAGGAGAG	0.527000													3	4					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125143731	125143731	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:125143731C>A	ENST00000362012.2	+	6	583	c.578C>A	c.(577-579)aCc>aAc	p.T193N	PTGS1_ENST00000373698.5_Missense_Mutation_p.T84N|PTGS1_ENST00000223423.4_Missense_Mutation_p.T193N|PTGS1_ENST00000540753.1_Missense_Mutation_p.T168N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	193					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCCAAGGCACCAACCTCATG	0.567000													23	32					1.64293e-13	2.39409e-13	1	1	0
SECISBP2	79048	broad.mit.edu	37	9	91961840	91961840	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:91961840G>C	ENST00000375807.3	+	11	1550	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E425D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E420D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	493					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CATCAGGGGAGAGAGGCCGCC	0.587000													29	30					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678574	186678574	+	Silent	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:186678574A>G	ENST00000343098.5	+	18	20397	c.20397A>G	c.(20395-20397)aaA>aaG	p.K6799K	FSIP2_ENST00000424728.1_Silent_p.K6710K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GCAGCCTGAAAAAATTTTTGT	0.373000													18	126					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863677	108863677	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:108863677C>A	ENST00000329106.2	+	1	27	c.27C>A	c.(25-27)ccC>ccA	p.P9P	SULT1C3_ENST00000376700.1_Silent_p.P9P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	9						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACGCTCCCACGATGGAAA	0.353000													33	114					1.90571e-15	2.94289e-15	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70333408	70333408	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:70333408C>T	ENST00000338508.4	-	32	2992	c.2993G>A	c.(2992-2994)aGc>aAc	p.S998N	SHANK2_ENST00000449833.2_Missense_Mutation_p.S402N|SHANK2_ENST00000409161.1_Missense_Mutation_p.S401N|SHANK2_ENST00000423696.2_Missense_Mutation_p.S618N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	618					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GACGGCTTTGCTGGCGATCTT	0.612000													52	158					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29639242	29639242	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:29639242C>A	ENST00000318184.5	-	8	931	c.932G>T	c.(931-933)aGg>aTg	p.R311M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	311	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGTTATATACCTTGAGCCCAC	0.408000													26	63					7.26314e-15	1.09733e-14	1	1	0
TAF1	6872	broad.mit.edu	37	X	70603920	70603920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:70603920G>T	ENST00000449580.1	+	13	2104	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	TAF1_ENST00000276072.3_Nonsense_Mutation_p.E706*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.E706*|TAF1_ENST00000373790.4_Nonsense_Mutation_p.E685*			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	685					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.E706K(1)|p.E685K(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGAATATAGTGAGGAAAATGG	0.423000													26	142					1.38267e-23	2.41276e-23	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161324373	161324373	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:161324373G>T	ENST00000428797.2	+	11	1671	c.1316G>T	c.(1315-1317)tGg>tTg	p.W439L	GABRA1_ENST00000023897.6_Missense_Mutation_p.W439L|GABRA1_ENST00000444819.1_Missense_Mutation_p.W439L|GABRA1_ENST00000437025.2_Missense_Mutation_p.W439L|GABRA1_ENST00000420560.1_Missense_Mutation_p.W439L|GABRA1_ENST00000393943.4_Missense_Mutation_p.W439L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	439					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTAGTCTACTGGGCTACGTAT	0.433000													74	91					4.81439e-37	9.25743e-37	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370131	240370131	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:240370131C>A	ENST00000319653.9	+	5	2249	c.2019C>A	c.(2017-2019)gcC>gcA	p.A673A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	673					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGGACAGGCCACTGTAATTC	0.443000													25	57					1.77063e-15	2.74036e-15	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103345250	103345250	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:103345250C>A	ENST00000358392.2	-	66	5616	c.5299G>T	c.(5299-5301)Gat>Tat	p.D1767Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.D1755Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1639Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1716Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1755	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCACAACCATCATACAGTGTT	0.428000													20	73					2.94398e-08	3.64991e-08	1	1	0
MYPN	84665	broad.mit.edu	37	10	69957156	69957156	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:69957156G>T	ENST00000358913.5	+	16	3694	c.3206G>T	c.(3205-3207)cGc>cTc	p.R1069L	MYPN_ENST00000354393.2_Missense_Mutation_p.R794L|MYPN_ENST00000540630.1_Missense_Mutation_p.R1069L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1069	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTACAGGAACGCTTTTTCCGA	0.473000													22	73					9.04412e-07	1.0469e-06	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220424097	220424097	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:220424097C>A	ENST00000404537.1	-	9	3132	c.3076G>T	c.(3076-3078)Ggg>Tgg	p.G1026W	OBSL1_ENST00000265317.5_Missense_Mutation_p.G17W|OBSL1_ENST00000265318.4_Missense_Mutation_p.G1026W|OBSL1_ENST00000373876.1_Missense_Mutation_p.G1026W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Missense_Mutation_p.G1026W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1026	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTTCCAGCCCATCCTTGTAC	0.647000													37	142					6.29468e-14	9.34828e-14	1	1	0
RUFY3	22902	broad.mit.edu	37	4	71630261	71630261	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:71630261G>T	ENST00000226328.4	+	4	1103	c.540G>T	c.(538-540)atG>atT	p.M180I	RUFY3_ENST00000381006.3_Missense_Mutation_p.M180I|RUFY3_ENST00000417478.2_Missense_Mutation_p.M240I|RUFY3_ENST00000536664.1_Missense_Mutation_p.M164I|RUFY3_ENST00000502653.1_Missense_Mutation_p.M127I	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	180	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGAATATATGAAAGCTTTGA	0.353000													16	66					6.31663e-08	7.64126e-08	1	1	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785209	22785209	+	RNA	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:22785209C>A	ENST00000600260.1	+	0	1385					NR_033899.1																						ACCTGCTGGCCTGGGCCCAGA	0.672000													6	8					3.59834e-05	3.94912e-05	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156752976	156752976	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:156752976C>A	ENST00000537611.2	-	9	1373	c.1327_splice	c.e9+1	p.A443_splice		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	443						integral to membrane|plasma membrane											TAACACTTACCAAGTAACTCA	0.378000													39	120					1.07637e-12	1.53327e-12	1	1	0
PKP1	5317	broad.mit.edu	37	1	201263116	201263116	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:201263116C>A	ENST00000263946.3	+	2	500	c.249C>A	c.(247-249)acC>acA	p.T83T	PKP1_ENST00000352845.3_Silent_p.T83T|PKP1_ENST00000367324.3_Silent_p.T83T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	83					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ATGGGACCACCAGCAGGAGCA	0.512000													12	24					4.36969e-10	5.70102e-10	1	1	0
WASL	8976	broad.mit.edu	37	7	123332735	123332735	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:123332735G>A	ENST00000223023.4	-	9	1345	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	338	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTATTTGGCGGTGGTGGAGG	0.637000													16	206					0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81627205	81627205	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:81627205C>T	ENST00000429644.2	-	12	2132	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	GBE1_ENST00000489715.1_Missense_Mutation_p.A456T	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	497					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TACATTTCGGCATCCATCAAC	0.378000									Glycogen Storage Disease, type IV				5	28					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64438541	64438541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:64438541C>A	ENST00000282869.5	-	4	2692	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	470						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TACTGTTTCTCTTCAGTATGA	0.358000													17	36					1.99824e-07	2.37206e-07	1	1	0
MCM5	4174	broad.mit.edu	37	22	35796517	35796517	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:35796517C>G	ENST00000216122.4	+	2	240	c.86C>G	c.(85-87)tCg>tGg	p.S29W	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.S29W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGCAAATCGCAGCTGCAG	0.657000													30	33					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704925	23704925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:23704925G>A	ENST00000397312.2	-	4	752	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Q189*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	160	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCAGTGACCTGGTCGACAAGA	0.428000													88	142					0	0	1	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739751	34739751	+	RNA	SNP	G	G	T	rs146761291	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:34739751G>T	ENST00000562591.1	-	0	171					NR_034019.1																						GACAGTTTCAGAAGCGAGTAG	0.393000													48	33					8.00217e-19	1.28698e-18	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885102	88885102	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:88885102C>A	ENST00000319675.3	-	1	1194	c.1098G>T	c.(1096-1098)gtG>gtT	p.V366V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	366										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGAGAAGGCCACACTGGGAA	0.587000													19	74					1.56452e-12	2.2106e-12	1	1	0
KLHL2	11275	broad.mit.edu	37	4	166226778	166226778	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:166226778G>T	ENST00000226725.6	+	9	1199	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	KLHL2_ENST00000538127.1_Missense_Mutation_p.G226C|KLHL2_ENST00000514860.1_Missense_Mutation_p.G318C|KLHL2_ENST00000506761.1_Missense_Mutation_p.G148C|KLHL2_ENST00000421009.2_Missense_Mutation_p.G217C|KLHL2_ENST00000509028.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	314					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGTGGTTGGGGGCCAAGCACC	0.463000													45	138					1.81118e-26	3.25826e-26	1	1	0
FAM222A	84915	broad.mit.edu	37	12	110206856	110206856	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:110206856G>A	ENST00000538780.1	+	3	1838	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.P374P	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	374																	AGCTGGGGCCGGGGGCAGCCC	0.682000													5	13					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25542757	25542757	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:25542757A>G	ENST00000330688.4	+	3	812	c.391A>G	c.(391-393)Aat>Gat	p.N131D	RARB_ENST00000458646.1_Missense_Mutation_p.N19D|RARB_ENST00000404969.1_Missense_Mutation_p.N138D|RARB_ENST00000437042.2_Missense_Mutation_p.N19D|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	138					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGTCACCAGGAATCGATGCCA	0.393000													19	102					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642343	99642343	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:99642343G>T	ENST00000345514.2	-	3	883	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	BCL11B_ENST00000443726.2_Missense_Mutation_p.S83Y|BCL11B_ENST00000357195.3_Missense_Mutation_p.S277Y	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	277						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGAGCGGGGACTGCGCCAC	0.731000			T	TLX3	T-ALL								3	5					0.004672	0.00483836	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113333052	113333052	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:113333052C>T	ENST00000458497.1	+	5	625	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	ALPK1_ENST00000177648.9_Missense_Mutation_p.R116W|ALPK1_ENST00000505912.1_3'UTR|ALPK1_ENST00000504176.2_Missense_Mutation_p.R38W	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	116							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTGGTGGACCGGTTCCTGTA	0.607000													8	22					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66458923	66458923	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:66458923C>T	ENST00000533211.1	-	27	5728	c.5397G>A	c.(5395-5397)gcG>gcA	p.A1799A	SPTBN2_ENST00000309996.2_Silent_p.A1799A|SPTBN2_ENST00000529997.1_Silent_p.A1799A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1799					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTCGTACGCCGCGGCCAGCA	0.692000													6	42					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731236	21731236	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:21731236G>T	ENST00000584755.1	+	2	935	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAATGTGAAGGCCAAGATCCA	0.532000													34	93					6.53348e-20	1.07051e-19	1	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726584	31726584	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:31726584G>T	ENST00000493662.2	+	15	1365	c.1309G>T	c.(1309-1311)Gtt>Ttt	p.V437F	MSH5_ENST00000375750.3_Missense_Mutation_p.V420F|MSH5_ENST00000375755.3_Missense_Mutation_p.V420F|MSH5_ENST00000395853.1_Missense_Mutation_p.V94F|MSH5_ENST00000431848.2_Missense_Mutation_p.V119F|MSH5_ENST00000375703.3_Missense_Mutation_p.V420F|MSH5_ENST00000534153.4_Missense_Mutation_p.V437F|MSH5_ENST00000375740.3_Missense_Mutation_p.V437F|MSH5_ENST00000375742.3_Missense_Mutation_p.V437F																							CCTTACTGAGGTTGCCCGCAA	0.522000													7	58					2.0095e-06	2.29939e-06	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165688	172165688	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:172165688G>A	ENST00000241256.2	-	1	558	c.516C>T	c.(514-516)ttC>ttT	p.F172F	GHSR_ENST00000427970.1_Silent_p.F172F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	172					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGGCGCTGCAGAAGGCCACGG	0.657000													12	66					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678336	66678336	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:66678336G>A	ENST00000360242.5	+	7	1546	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D477N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D477N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	477										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAAAAAGAAGATGAGGTACT	0.363000													14	51					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10629241	10629241	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:10629241A>T	ENST00000254958.5	-	12	2040	c.1525T>A	c.(1525-1527)Ttc>Atc	p.F509I	JAG1_ENST00000423891.2_Missense_Mutation_p.F350I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	509	EGF-like 8; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGACACTGGAATCTGTTGATT	0.517000									Alagille Syndrome				11	36					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242498	114242498	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:114242498C>T	ENST00000371936.1	-	9	1243	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.E332K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	332	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CTCATACCTTCCCAGCATTGT	0.338000													26	119					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936502	40936502	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:40936502G>T	ENST00000313164.9	+	5	702	c.343G>T	c.(343-345)Gat>Tat	p.D115Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	115	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGACAGTGCTGATGAAGACAG	0.448000													15	30					0.000422831	0.000452663	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113933877	113933877	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:113933877C>A	ENST00000297405.5	-	10	1856	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D538Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D434Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D498Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	538	Sushi 2.					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						GGCCTGTGATCACTCCAAGCA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	73					7.53189e-24	1.32092e-23	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89405108	89405108	+	RNA	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:89405108G>C	ENST00000532352.1	+	0	1048							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGGTGGTATTGACCCTCAGAG	0.403000													27	127					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85415984	85415984	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:85415984C>A	ENST00000359152.5	-	8	4728	c.4729G>T	c.(4729-4731)Ggg>Tgg	p.G1577W	SYTL2_ENST00000389958.3_Missense_Mutation_p.G162W|SYTL2_ENST00000354566.3_Missense_Mutation_p.G1069W|SYTL2_ENST00000525423.1_Missense_Mutation_p.G1053W|SYTL2_ENST00000525702.1_Missense_Mutation_p.G173W|SYTL2_ENST00000533892.1_Missense_Mutation_p.G133W|SYTL2_ENST00000524452.1_Missense_Mutation_p.G707W|SYTL2_ENST00000316356.4_Missense_Mutation_p.G732W|SYTL2_ENST00000389960.4_Missense_Mutation_p.G707W|SYTL2_ENST00000529581.1_Missense_Mutation_p.G173W|SYTL2_ENST00000528231.1_Missense_Mutation_p.G731W|SYTL2_ENST00000527523.1_Missense_Mutation_p.G699W	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	731					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCCACCTCCCCTAGGAAACTA	0.388000													52	144					3.50607e-19	5.66489e-19	1	1	0
PITPNM1	9600	broad.mit.edu	37	11	67262386	67262386	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:67262386C>T	ENST00000356404.3	-	18	2898	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	PITPNM1_ENST00000534749.1_Silent_p.E891E|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.E890E	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	891					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGATGGACGGCTCCTCGCATT	0.687000													14	92					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666143	20666143	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:20666143T>A	ENST00000357366.3	+	1	649	c.649T>A	c.(649-651)Tgt>Agt	p.C217S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCACTTCCTATGTGACCCAGC	0.438000													41	84					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855802	228855802	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:228855802G>T	ENST00000392056.3	-	11	4919	c.4873C>A	c.(4873-4875)Cga>Aga	p.R1625R	SPHKAP_ENST00000344657.5_Silent_p.R1596R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1625						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGAGTGGCTCGGAGCTCGGCA	0.537000													19	66					6.49762e-13	9.31281e-13	1	1	0
NDUFS8	4728	broad.mit.edu	37	11	67799759	67799759	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:67799759C>T	ENST00000313468.5	+	3	172	c.65C>T	c.(64-66)cCt>cTt	p.P22L	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	22					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GCAGGACCTCCTGGTGGCCGG	0.607000													48	122					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61036451	61036451	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:61036451C>A	ENST00000335613.5	-	15	2211	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	VWCE_ENST00000535710.1_Missense_Mutation_p.D74Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	609	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAGGAGTCCACACAGTCT	0.652000													10	51					1.58986e-06	1.83123e-06	1	1	0
FCGR3A	2214	broad.mit.edu	37	1	161514527	161514527	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:161514527C>A	ENST00000367969.3	-	4	832	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	FCGR3A_ENST00000436743.1_Missense_Mutation_p.V181L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V181L|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V216L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	181					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTGAAGACACATTTTTACTC	0.483000													21	53					1.10513e-12	1.56467e-12	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23397899	23397899	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:23397899G>A	ENST00000379361.4	+	2	1403	c.543G>A	c.(541-543)aaG>aaA	p.K181K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	181					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTCACTTAAAGGACGGGAGGG	0.537000													24	144					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933436	100933436	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:100933436C>G	ENST00000325455.5	-	4	3407	c.1954G>C	c.(1954-1956)Gat>Cat	p.D652H	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.D58H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	652					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GCAACAGCATCCAGTGCTCTC	0.393000													22	127					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729269	41729269	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:41729269C>T	ENST00000242208.4	-	3	1506	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.V420V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	420					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACACTCCTCCACGATCATGT	0.463000										TSP Lung(11;0.080)			21	63					0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122520584	122520584	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:122520584A>T	ENST00000389682.3	+	5	624	c.377A>T	c.(376-378)gAg>gTg	p.E126V	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Intron|TSN_ENST00000409193.1_Missense_Mutation_p.E121V	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	126					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	p.E126V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TTTTTAGTTGAGCCAGATCGG	0.363000													12	70					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10423042	10423042	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:10423042C>A	ENST00000317552.4	-	9	1923	c.1523G>T	c.(1522-1524)cGt>cTt	p.R508L	MID1_ENST00000380787.1_Missense_Mutation_p.R508L|MID1_ENST00000453318.2_Missense_Mutation_p.R508L|MID1_ENST00000380780.1_Missense_Mutation_p.R508L|MID1_ENST00000380782.2_Missense_Mutation_p.R508L|MID1_ENST00000380785.1_Missense_Mutation_p.R508L|MID1_ENST00000380779.1_Missense_Mutation_p.R508L|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	508	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACTCATCACGTTCTACTGT	0.443000													24	85					5.45024e-15	8.32444e-15	1	1	0
COG7	91949	broad.mit.edu	37	16	23457175	23457175	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:23457175C>A	ENST00000307149.5	-	2	462	c.277G>T	c.(277-279)Gac>Tac	p.D93Y		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	93					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TTTTTAATGTCCTCCTTGACA	0.438000													48	53					1.65492e-34	3.1561e-34	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17033858	17033858	+	RNA	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:17033858C>T	ENST00000492551.1	-	0	620					NR_026567.1																						CGGCCGCGTACCCGTCGCGGT	0.687000													4	18					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100275603	100275603	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:100275603G>T	ENST00000403410.1	+	5	858		c.e5-1		TMEM45A_ENST00000323523.4_Splice_Site|TMEM45A_ENST00000462884.1_Splice_Site			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTTCTTGGCAGGCATGGCTGG	0.438000													19	21					2.35188e-11	3.21885e-11	1	1	0
CCM2	83605	broad.mit.edu	37	7	45108139	45108139	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:45108139G>T	ENST00000381112.3	+	5	1312	c.633G>T	c.(631-633)gtG>gtT	p.V211V	CCM2_ENST00000258781.6_Silent_p.V190V|CCM2_ENST00000541586.1_Silent_p.V132V|CCM2_ENST00000475551.1_Silent_p.V184V|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	190	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTGGGCCCGTGGAGGCATGCT	0.627000													31	55					1.74807e-11	2.40187e-11	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245867	166245867	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:166245867C>A	ENST00000357398.3	+	27	5841	c.5551C>A	c.(5551-5553)Cgg>Agg	p.R1851R	SCN2A_ENST00000375437.2_Silent_p.R1851R|SCN2A_ENST00000375427.2_Silent_p.R1851R|SCN2A_ENST00000283256.6_Silent_p.R1851R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1851					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAGTGGTGACCGGATCCACTG	0.468000													51	123					6.31075e-24	1.11235e-23	1	1	0
CRADD	8738	broad.mit.edu	37	12	94243993	94243993	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:94243993C>T	ENST00000542893.2	+	3	864	c.546C>T	c.(544-546)aaC>aaT	p.N182N	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.N182N|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	182	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GCCTGCACAACGGGCTGCGGG	0.652000													13	67					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123880664	123880664	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:123880664G>A	ENST00000373855.1	+	12	1756	c.1496G>A	c.(1495-1497)aGt>aAt	p.S499N	CNTRL_ENST00000238341.5_Missense_Mutation_p.S499N|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	499					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGCAGTTGAGTGGTAGACTA	0.393000													24	139					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653223	55653223	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:55653223G>C	ENST00000449290.2	+	2	411	c.319G>C	c.(319-321)Gac>Cac	p.D107H		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	107						intracellular	zinc ion binding										CTGTGAAGTGGACAAGAGCCT	0.522000													9	45					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063308	46063308	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:46063308G>T	ENST00000309285.3	-	2	488	c.132C>A	c.(130-132)ctC>ctA	p.L44L	XCR1_ENST00000542109.1_Silent_p.L44L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	44					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCACTAGGCTGAGGAGAAACA	0.552000													9	84					0.000442599	0.000472377	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104639387	104639387	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:104639387G>T	ENST00000315264.7	+	7	1455	c.1077G>T	c.(1075-1077)tgG>tgT	p.W359C	KIF26A_ENST00000423312.2_Missense_Mutation_p.W498C			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	498					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCATCTCCTGGCTCTTCAGGC	0.697000													5	7					0.184627	0.185691	1	1	0
HCK	3055	broad.mit.edu	37	20	30686915	30686915	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:30686915C>A	ENST00000534862.1	+	13	1658	c.1295C>A	c.(1294-1296)aCc>aAc	p.T432N	HCK_ENST00000538448.1_Missense_Mutation_p.T431N|HCK_ENST00000375862.2_Missense_Mutation_p.T451N|HCK_ENST00000375852.2_Missense_Mutation_p.T452N|HCK_ENST00000518730.1_Missense_Mutation_p.T430N|HCK_ENST00000520553.1_Missense_Mutation_p.T431N	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	452	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGATCGTCACCTACGGCCGG	0.552000													55	181					3.74213e-36	7.17584e-36	1	1	0
MTMR10	54893	broad.mit.edu	37	15	31253166	31253166	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:31253166C>A	ENST00000435680.1	-	7	773	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.D144Y|MTMR10_ENST00000425768.1_Silent_p.R195R	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	226	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTGTCCCAATCCGAGTAAGTT	0.473000													5	7					0.000602214	0.000639796	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480872	140480872	+	Silent	SNP	C	C	A	rs148121148		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140480872C>A	ENST00000231130.2	+	1	639	c.639C>A	c.(637-639)acC>acA	p.T213T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACGCTCACCGCGCTGGACG	0.562000													34	33					8.4185e-14	1.24231e-13	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166893017	166893017	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:166893017C>A	ENST00000423058.2	-	16	2987	c.2970G>T	c.(2968-2970)ttG>ttT	p.L990F	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L962F|SCN1A_ENST00000375405.3_Missense_Mutation_p.L979F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L990F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	990						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCTCAGAAGCAAGGCCAGAA	0.368000													9	41					0.335167	0.33613	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37026368	37026368	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:37026368C>G	ENST00000282516.8	+	31	6246	c.5747C>G	c.(5746-5748)aCt>aGt	p.T1916S	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1916S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1916					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)			CTCTGGTTTACTCCAACTCCA	0.343000													16	27					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41195961	41195961	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:41195961C>A	ENST00000263413.3	-	5	784	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	C6_ENST00000337836.5_Missense_Mutation_p.G174W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	174	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTCCTCCCACAGTCCCTT	0.428000													78	146					6.30617e-38	1.21931e-37	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228468275	228468275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:228468275G>T	ENST00000570156.2	+	35	9336	c.9262G>T	c.(9262-9264)Gag>Tag	p.E3088*	OBSCN_ENST00000359599.6_Nonsense_Mutation_p.E1506*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E2659*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E2659*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2089	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTCCGCAGAGGAGCGCGG	0.647000													19	51					1.15919e-05	1.29874e-05	1	1	0
GLIS1	148979	broad.mit.edu	37	1	53975609	53975609	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:53975609C>A	ENST00000312233.2	-	8	2016	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	484	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCTGGCCCCCCGGAGAATGG	0.692000													4	13					0.150653	0.15174	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854657	37854657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:37854657C>T	ENST00000591471.1	+	9	2782	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	HKR1_ENST00000324411.4_Nonsense_Mutation_p.Q654*|HKR1_ENST00000541583.2_Nonsense_Mutation_p.Q593*|HKR1_ENST00000392153.3_Nonsense_Mutation_p.Q635*|HKR1_ENST00000589392.1_Nonsense_Mutation_p.Q636*|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Nonsense_Mutation_p.Q381*			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	654					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCAGACATCAGAGGACACA	0.458000													14	66					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47811486	47811486	+	Silent	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:47811486G>C	ENST00000285106.6	-	7	1512	c.798C>G	c.(796-798)gtC>gtG	p.V266V	CXXC1_ENST00000412036.2_Silent_p.V266V|CXXC1_ENST00000589940.1_Silent_p.V266V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	266	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GAGGCTCCTTGACTGTTGATG	0.602000													11	60					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960578	150960578	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:150960578T>C	ENST00000368947.4	+	11	1185	c.709T>C	c.(709-711)Tac>Cac	p.Y237H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	237					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTTGATCAGTACCAGCGGAG	0.557000													16	95					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942840	112942840	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:112942840G>T	ENST00000331203.2	+	7	1142	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C	FBLN7_ENST00000409450.3_Missense_Mutation_p.G245C|FBLN7_ENST00000409903.1_Missense_Mutation_p.G291C|FBLN7_ENST00000409667.3_Missense_Mutation_p.G157C	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	291	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CATCAACACCGGTGGAAGCTT	0.582000													31	94					1.06801e-11	1.47618e-11	1	1	0
CEP152	22995	broad.mit.edu	37	15	49083487	49083487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:49083487G>A	ENST00000380950.2	-	8	1106	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q307*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q214*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	307					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q307E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCTTTTATTTGAGCTTCAAGC	0.328000													14	44					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112233	44112233	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:44112233G>T	ENST00000361807.3	+	5	936	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W	ZNF485_ENST00000374437.2_Missense_Mutation_p.G157W|ZNF485_ENST00000374435.3_Missense_Mutation_p.G248W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TAATGACTGTGGGAAAGCCTT	0.398000													29	72					2.61193e-14	3.92071e-14	1	1	0
PLEKHA8	84725	broad.mit.edu	37	7	30094412	30094412	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:30094412G>T	ENST00000449726.1	+	8	1234	c.884G>T	c.(883-885)tGc>tTc	p.C295F	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295F|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295F|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295F	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	295					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GACTCAAGTTGCTCTCCGGAA	0.403000													52	114					1.63038e-21	2.7225e-21	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183210493	183210493	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:183210493G>T	ENST00000341319.3	-	6	1388	c.1353C>A	c.(1351-1353)gcC>gcA	p.A451A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	451										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGAGGGGTGCGGCCTGTAGAG	0.567000													18	39					4.96729e-08	6.02986e-08	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248684984	248684984	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248684984C>T	ENST00000343414.4	+	1	69	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAGGGATTTCTTCTCCTGGG	0.423000													53	177					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630889	122630889	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:122630889C>A	ENST00000195173.4	-	20	3221	c.2918G>T	c.(2917-2919)aGt>aTt	p.S973I	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1029I|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S975I			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	975	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGTGCACTTACTCCACTCAGA	0.647000													16	34					1.5739e-10	2.10456e-10	1	1	0
SCD5	79966	broad.mit.edu	37	4	83626503	83626503	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:83626503T>A	ENST00000319540.4	-	2	615	c.296A>T	c.(295-297)cAc>cTc	p.H99L	SCD5_ENST00000282709.4_Missense_Mutation_p.H99L|SCD5_ENST00000273908.4_Missense_Mutation_p.H99L	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	99					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTAGGACCTGTGGCTCCACAA	0.582000													19	37					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212380	131212380	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:131212380G>T	ENST00000298542.4	-	12	1840	c.1665C>A	c.(1663-1665)gcC>gcA	p.A555A	FRMD7_ENST00000464296.1_Silent_p.A540A|FRMD7_ENST00000370879.1_Silent_p.A435A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	555					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CGCTAGTCCTGGCTATAGCTT	0.438000													45	226					1.8453e-21	3.07403e-21	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35542219	35542219	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:35542219T>A	ENST00000453357.2	+	6	912	c.856T>A	c.(856-858)Tgt>Agt	p.C286S	UNC5D_ENST00000404895.2_Missense_Mutation_p.C291S|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.C291S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	291	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGGGCCTTTTGTGAGGGAAT	0.502000													28	126					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	977494	977494	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:977494G>C	ENST00000379370.2	+	7	1386	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	446	Kazal-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCAGCAGGCTGAGTGCCGGCA	0.716000													6	34					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237317	140237317	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140237317C>A	ENST00000307360.5	+	1	1684	c.1684C>A	c.(1684-1686)Ccc>Acc	p.P562T	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACGCTCCCGCGCTGCT	0.692000													40	46					4.92203e-23	8.46201e-23	1	1	0
FAM102B	284611	broad.mit.edu	37	1	109103096	109103096	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:109103096G>C	ENST00000370035.3	+	1	386	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	FAM102B_ENST00000405454.1_Missense_Mutation_p.E16Q	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	16										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTTCGAGCTCGAGGAGCTCTC	0.622000													13	61					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41805339	41805339	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:41805339T>A	ENST00000396930.3	-	12	2375	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	KAT6A_ENST00000265713.2_Missense_Mutation_p.E611V|KAT6A_ENST00000485568.1_Missense_Mutation_p.E611V|KAT6A_ENST00000406337.1_Missense_Mutation_p.E611V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	611	Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AAGAAATGGCTCCACATCGTA	0.378000													11	84					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144828587	144828587	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:144828587G>A	ENST00000338347.4	+	14	1633	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.D143N|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						AGTCTTGCAGGACTCACTGGA	0.458000													98	313					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428342	10428342	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:10428342T>A	ENST00000245503.5	-	34	5087	c.4703A>T	c.(4702-4704)cAg>cTg	p.Q1568L	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1568L|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1568					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						CAACTCAAGCTGGATGCGCAG	0.418000													57	102					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680221	4680221	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:4680221G>A	ENST00000379440.4	+	2	642	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	PRNP_ENST00000430350.2_Missense_Mutation_p.G119R	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	119	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGCAGCAGCTGGGGCAGTGGT	0.577000													13	46					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397454	125397454	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:125397454G>A	ENST00000536769.1	-	1	2440	c.864C>T	c.(862-864)aaC>aaT	p.N288N	UBC_ENST00000339647.5_Silent_p.N288N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.N212N			P0CG48	UBC_HUMAN	ubiquitin C	288	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTTCTGGATGTTGTAGTCAG	0.532000													9	223					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104220	131104220	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:131104220C>A	ENST00000357668.1	-	24	2598	c.2572_splice	c.e24+1	p.W857_splice	ASAP1_ENST00000518721.1_Splice_Site_p.W857_splice			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	857	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATAACTTACCCCAAGGAACTG	0.597000													49	109					1.11015e-26	2.00747e-26	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2428049	2428049	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:2428049G>T	ENST00000449969.1	+	14	1919	c.1758G>T	c.(1756-1758)gcG>gcT	p.A586A	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Silent_p.A613A|PLCH2_ENST00000378486.3_Silent_p.A613A|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Silent_p.A613A			O75038	PLCH2_HUMAN	phospholipase C, eta 2	613					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCCACAGGGCGACCCGGCAGA	0.647000													5	16					0.217242	0.21818	1	1	0
MPI	4351	broad.mit.edu	37	15	75183751	75183751	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr15:75183751C>A	ENST00000352410.4	+	3	243	c.176C>A	c.(175-177)gCc>gAc	p.A59D	MPI_ENST00000323744.6_Missense_Mutation_p.A59D|MPI_ENST00000562606.1_Missense_Mutation_p.A39D|MPI_ENST00000566377.1_Missense_Mutation_p.A59D|MPI_ENST00000563422.1_Missense_Mutation_p.A59D|MPI_ENST00000564003.1_Missense_Mutation_p.A9D|MPI_ENST00000565576.1_Missense_Mutation_p.A59D|MPI_ENST00000535694.1_Missense_Mutation_p.A9D|MPI_ENST00000563786.1_Missense_Mutation_p.A39D			P34949	MPI_HUMAN	mannose phosphate isomerase	59					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGGGGATGCCAAGATCCTT	0.552000													47	99					2.68985e-26	4.82652e-26	1	1	0
AMPH	273	broad.mit.edu	37	7	38431502	38431502	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:38431502C>T	ENST00000356264.2	-	19	1940	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	AMPH_ENST00000428293.2_Silent_p.P533P|AMPH_ENST00000325590.5_Silent_p.P533P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	575					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGGTGGGGCCCGGAGGAGCCG	0.622000													21	40					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149522470	149522470	+	RNA	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:149522470C>T	ENST00000378016.2	+	0	14100							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCAGGGACCCTGCCGCCCAG	0.647000													35	103					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100956	41100956	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:41100956G>T	ENST00000373198.3	-	8	1635	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	PTPRT_ENST00000373184.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373201.1_Missense_Mutation_p.P467H|PTPRT_ENST00000356100.2_Missense_Mutation_p.P467H|PTPRT_ENST00000373193.3_Missense_Mutation_p.P467H|PTPRT_ENST00000373187.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373190.1_Missense_Mutation_p.P467H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	467	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGGCCCTCGGGGTTAGACAG	0.592000													63	75					6.26901e-30	1.16068e-29	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13762944	13762944	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:13762944C>A	ENST00000265104.4	-	60	10272	c.10168G>T	c.(10168-10170)Gac>Tac	p.D3390Y	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3390	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTTATAGTCAGGCATTTCA	0.363000									Kartagener syndrome				21	86					6.44725e-10	8.39586e-10	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211462556	211462556	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:211462556G>A	ENST00000367005.4	+	7	724	c.583G>A	c.(583-585)Gga>Aga	p.G195R	RCOR3_ENST00000452621.2_Missense_Mutation_p.G253R|RCOR3_ENST00000419091.2_Missense_Mutation_p.G253R|RCOR3_ENST00000367006.4_Missense_Mutation_p.G253R	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TAGCAAGATTGGACTTGGAAG	0.398000													11	95					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76948388	76948388	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:76948388C>T	ENST00000380887.2	+	4	616	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	ESRRB_ENST00000556177.1_Missense_Mutation_p.R182C|ESRRB_ENST00000261532.7_Missense_Mutation_p.R182C|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.R182C			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCGTGGAGGCCGTCAGAAATA	0.517000													7	45					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057032	94057032	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:94057032C>A	ENST00000297268.6	+	49	3832	c.3361C>A	c.(3361-3363)Cag>Aag	p.Q1121K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1121					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGGGCTGACCAGCCTCGCTC	0.547000										HNSCC(75;0.22)			74	82					8.07507e-42	1.57882e-41	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160914954	160914954	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:160914954C>T	ENST00000368029.3	-	8	1011	c.954G>A	c.(952-954)gcG>gcA	p.A318A	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	318					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGAGTACAGCCGCCTCCGTTA	0.537000													7	68					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8475398	8475398	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:8475398G>T	ENST00000405863.1	+	2	965		c.e2+1		NXPH1_ENST00000602349.1_Splice_Site	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1							extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CGTCTACTTGGTAAGTCTTGG	0.577000													37	77					9.85521e-28	1.80077e-27	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108622658	108622658	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:108622658G>T	ENST00000264047.2	+	7	1171	c.895_splice	c.e7+1	p.D299_splice	SLC5A7_ENST00000409059.1_Splice_Site_p.D299_splice|SLC5A7_ENST00000540517.1_Splice_Site_p.D194_splice	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	299					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGCATCAACAGGTAAATCTCT	0.532000													28	95					1.80694e-10	2.40696e-10	1	1	0
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:135487937G>T	ENST00000394143.1	+	23	9032	c.8741G>T	c.(8740-8742)tGc>tTc	p.C2914F	GPR112_ENST00000370652.1_Missense_Mutation_p.C2914F|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709F|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709F|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398000													25	109					9.57634e-11	1.2904e-10	1	1	0
CLCN2	1181	broad.mit.edu	37	3	184076081	184076081	+	Missense_Mutation	SNP	G	G	A	rs139188499	byFrequency	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:184076081G>A	ENST00000265593.4	-	4	541	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R80W|CLCN2_ENST00000457512.1_Missense_Mutation_p.R124W|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R124W	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	124						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCAAGCCCCGGGACATCCAC	0.617000													28	103					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519393	49519393	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:49519393A>T	ENST00000221421.2	-	3	357	c.358T>A	c.(358-360)Tgt>Agt	p.C120S		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	120					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	GGACCCCCACAGTCAGAGGTG	0.657000													28	48					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3645675	3645675	+	Silent	SNP	G	G	A	rs149315267		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:3645675G>A	ENST00000294008.3	-	9	2584	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	648	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGAAGGCCGCCGGGCACCA	0.622000								Direct reversal of damage					5	43					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42990792	42990792	+	Silent	SNP	G	G	T	rs146725018		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:42990792G>T	ENST00000253408.5	-	4	690	c.625C>A	c.(625-627)Cgg>Agg	p.R209R	GFAP_ENST00000435360.2_Silent_p.R209R|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Silent_p.R209R|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	209	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGAGTTCCCGAACCTCCTGA	0.637000													9	30					1.12685e-05	1.26454e-05	1	1	0
GAD1	2571	broad.mit.edu	37	2	171704266	171704266	+	Silent	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:171704266T>C	ENST00000358196.3	+	11	1633	c.1083T>C	c.(1081-1083)gaT>gaC	p.D361D		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	361					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGATTGCAGATATATGTGAGA	0.418000													64	209					0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13681008	13681008	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:13681008C>G	ENST00000380600.1	+	2	468	c.381C>G	c.(379-381)gaC>gaG	p.D127E	TCEANC_ENST00000544987.1_Missense_Mutation_p.D127E|TCEANC_ENST00000545566.1_Missense_Mutation_p.D127E|TCEANC_ENST00000314720.4_Missense_Mutation_p.D157E|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	127					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTTCCCAAGACGTTGCAAAAC	0.448000													16	52					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670703	101670703	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:101670703G>A	ENST00000409318.1	-	4	628	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TBC1D8_ENST00000376840.4_Silent_p.F151F	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	151	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGGGGAAGTTGAACCTGGCCT	0.622000													3	10					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86131086	86131086	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:86131086C>A	ENST00000278487.3	+	13	2092	c.1013C>A	c.(1012-1014)gCt>gAt	p.A338D	CCDC81_ENST00000528728.1_Missense_Mutation_p.A338D|CCDC81_ENST00000445632.2_Missense_Mutation_p.A603D|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513D			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	603										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAGGACAAGGCTTTTGAACGG	0.512000													29	88					3.57733e-08	4.40384e-08	1	1	0
CFP	5199	broad.mit.edu	37	X	47486200	47486200	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:47486200G>A	ENST00000247153.3	-	7	1153	c.912C>T	c.(910-912)caC>caT	p.H304H	CFP_ENST00000396992.3_Silent_p.H304H|CFP_ENST00000377005.2_Silent_p.H304H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	304	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TGTTGCAGATGTGGGTCCGGG	0.627000													6	40					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158651357	158651357	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:158651357A>G	ENST00000368148.3	-	4	671	c.491T>C	c.(490-492)gTa>gCa	p.V164A	SPTA1_ENST00000368147.3_Missense_Mutation_p.V164A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	164					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACACTCCTGTACATACTGCTG	0.547000													76	224					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039452	248039452	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:248039452G>T	ENST00000366481.3	+	6	1170	c.1122G>T	c.(1120-1122)acG>acT	p.T374T	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	374	B30.2/SPRY.		T -> M (in dbSNP:rs3811444).			intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGAAACCACGCCATCTCCTG	0.557000													30	82					1.88708e-17	2.98681e-17	1	1	0
MYH4	4622	broad.mit.edu	37	17	10347929	10347929	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:10347929C>T	ENST00000255381.2	-	39	5769	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1887					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACAGCCTCTTCAGCTTGTCTC	0.438000													40	58					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006169	94006169	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:94006169A>G	ENST00000282020.4	+	3	526	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	90					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATCAAGGCATCTTGGCCCT	0.488000													10	70					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39021133	39021133	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:39021133C>A	ENST00000251643.4	-	3	755	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	244	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CGGTCCTGGTCAGGGTCAGCT	0.587000													51	277					9.40368e-32	1.76921e-31	1	1	0
EBF2	64641	broad.mit.edu	37	8	25708217	25708217	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:25708217G>A	ENST00000520164.1	-	15	2126	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	EBF2_ENST00000408929.3_Missense_Mutation_p.S382F|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	530	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.S530Y(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAAAACTGAAGAGGAAAATGG	0.498000													15	78					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697675	55697675	+	Missense_Mutation	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:55697675G>C	ENST00000376350.3	-	16	2718	c.2696C>G	c.(2695-2697)aCa>aGa	p.T899R	PTPRH_ENST00000263434.5_Missense_Mutation_p.T721R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	899	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTCACCCACTGTCTGTGGCAG	0.632000													21	36					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14181674	14181674	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:14181674G>T	ENST00000382080.1	-	3	989	c.274C>A	c.(274-276)Cga>Aga	p.R92R	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	79					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.R92*(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CCTTCAAGTCGGATTCCCTTC	0.358000													36	80					4.14481e-20	6.82329e-20	1	1	0
AGAP11	119385	broad.mit.edu	37	10	88752033	88752033	+	RNA	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:88752033C>T	ENST00000433214.2	+	0	394																											GGTAAATAGCCACTGTGGAGA	0.403000													7	23					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70964914	70964914	+	Missense_Mutation	SNP	C	C	A	rs139981476	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:70964914C>A	ENST00000334414.6	-	13	3306	c.3262G>T	c.(3262-3264)Gca>Tca	p.A1088S	PTPRB_ENST00000538708.1_Missense_Mutation_p.A870S|PTPRB_ENST00000451516.2_Missense_Mutation_p.A780S|PTPRB_ENST00000261266.5_Missense_Mutation_p.A870S|PTPRB_ENST00000551525.1_Missense_Mutation_p.A1087S|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1000S|PTPRB_ENST00000550857.1_Missense_Mutation_p.A780S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	870	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTCGGTTGCGGTATTTACA	0.458000													17	53					1.99824e-07	2.37206e-07	1	1	0
OR7A10	390892	broad.mit.edu	37	19	14952520	14952520	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:14952520G>T	ENST00000248058.1	-	1	169	c.170C>A	c.(169-171)aCc>aAc	p.T57N		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTACATGGGGGTGTGGAGGTG	0.527000													27	44					1.66031e-10	2.21586e-10	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180377362	180377362	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:180377362A>T	ENST00000273654.4	-	12	1487	c.868T>A	c.(868-870)Ttg>Atg	p.L290M	CCDC39_ENST00000442201.2_Missense_Mutation_p.L206M			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	206					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTTATCCAATTCTAACTGT	0.328000													26	105					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129276009	129276009	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:129276009C>T	ENST00000324093.4	-	34	5681	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	PLXND1_ENST00000504689.1_De_novo_Start_InFrame|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1835					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGCGCTGCACGATCTTCCGG	0.587000													27	92					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65205488	65205488	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:65205488C>T	ENST00000247226.7	+	13	1573	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S478F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S11F|PLEKHG3_ENST00000484731.2_5'UTR	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	478					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCTGAAAGCTCCAGGAGCAGC	0.582000													8	12					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91066235	91066235	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:91066235G>T	ENST00000395337.2	+	3	530		c.e3-1			NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCAACAGCTGATTGCAG	0.368000													23	58					7.26314e-15	1.09733e-14	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541788	55541788	+	Missense_Mutation	SNP	A	A	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:55541788A>C	ENST00000361760.1	+	1	875	c.875A>C	c.(874-876)tAc>tCc	p.Y292S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCATTGATCTACAGCCTTAGG	0.353000													10	58					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30782131	30782131	+	Splice_Site	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:30782131C>T	ENST00000382363.3	-	3	504		c.e3-1			NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215							integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCCGCCGCATCTGCAGAGGGA	0.602000													6	7					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765795	101765795	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:101765795C>A	ENST00000334289.3	-	8	1257	c.661_splice	c.e8-1	p.G221_splice		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	221	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CCAAAATTCTCCTGTAAAAAA	0.269000													14	25					9.31168e-06	1.05001e-05	1	1	0
MAGEB4	4115	broad.mit.edu	37	X	30261171	30261171	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:30261171G>A	ENST00000378982.2	+	1	1115	c.919G>A	c.(919-921)Gct>Act	p.A307T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	307	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TTATGAAGAGGCTTTGAGAGA	0.527000													9	93					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97269310	97269310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:97269310G>A	ENST00000523821.1	-	3	486	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.Q2*|MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.Q123*			Q96E29	MTER1_HUMAN	MTERF domain containing 1	123					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GAAATTGGCTGCATTGGAGAC	0.413000													29	90					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126716037	126716037	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:126716037C>A	ENST00000309035.6	-	1	422	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCAGACATCACTGCCTGTCTG	0.602000													30	44					3.11337e-16	4.85075e-16	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627815	43627815	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:43627815C>A	ENST00000332857.6	-	4	900	c.872G>T	c.(871-873)tGc>tTc	p.C291F	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTTAAAGGCGCACGAGGTTCT	0.562000													87	359					3.17824e-57	6.39312e-57	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107331901	107331901	+	Silent	SNP	T	T	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:107331901T>G	ENST00000335040.1	+	1	453	c.453T>G	c.(451-453)acT>acG	p.T151T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTGGGTCACTGGGCTTGTGG	0.493000													30	59					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721000													8	28					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157740232	157740232	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:157740232T>C	ENST00000361516.3	-	3	325	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	FCRL2_ENST00000392274.3_Missense_Mutation_p.K93E|FCRL2_ENST00000368181.4_Missense_Mutation_p.K93E	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	93	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTGAAGTTTTATCCCAGAGA	0.413000													27	119					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149671598	149671598	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:149671598C>A	ENST00000370401.2	+	6	2405	c.2095C>A	c.(2095-2097)Ctc>Atc	p.L699I	MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Missense_Mutation_p.L139I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L674I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L699I			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	699					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCAGCCTCGGGCGACA	0.602000													34	238					3.86903e-22	6.57076e-22	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169412906	169412906	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:169412906C>A	ENST00000256935.8	+	29	3053	c.2973C>A	c.(2971-2973)gcC>gcA	p.A991A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A52A|DOCK2_ENST00000520908.1_Silent_p.A483A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	991	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGATGGCCATGAGCATGG	0.463000													86	103					1.17954e-47	2.32575e-47	1	1	0
MCM5	4174	broad.mit.edu	37	22	35812739	35812739	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:35812739C>A	ENST00000216122.4	+	12	1676	c.1522C>A	c.(1522-1524)Ccc>Acc	p.P508T	MCM5_ENST00000382011.5_Missense_Mutation_p.P465T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	508	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGACTTCATGCCCACCATCTT	0.597000													16	84					4.14922e-12	5.80391e-12	1	1	0
TBX3	6926	broad.mit.edu	37	12	115120936	115120936	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:115120936G>T	ENST00000349155.2	-	1	1033	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	TBX3_ENST00000257566.3_Silent_p.R24R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	24					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCCGGCGCCCGGTGAGGTAGG	0.697000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	73					1.10513e-12	1.56467e-12	1	1	0
USP9X	8239	broad.mit.edu	37	X	41043333	41043333	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:41043333C>A	ENST00000324545.7	+	22	3864	c.3231C>A	c.(3229-3231)gaC>gaA	p.D1077E	USP9X_ENST00000378308.2_Missense_Mutation_p.D1077E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1077					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CATCTCTTGACTCACTTTTCT	0.363000													29	230					3.57733e-08	4.40384e-08	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21784589	21784589	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:21784589G>A	ENST00000328843.6	+	52	8470	c.8439G>A	c.(8437-8439)gtG>gtA	p.V2813V	DNAH11_ENST00000409508.3_Silent_p.V2806V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2813					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGGAAGTGCTGAAGACGA	0.433000									Kartagener syndrome				6	16					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771970	229771970	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:229771970T>A	ENST00000258243.2	+	4	1746	c.1610T>A	c.(1609-1611)cTg>cAg	p.L537Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	537						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GACATGGCCCTGAAATCACTG	0.547000													24	108					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780050	37780050	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:37780050C>A	ENST00000447769.1	+	4	344	c.55C>A	c.(55-57)Cac>Aac	p.H19N	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.H19N			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGACACCCCACTTAATCAG	0.493000													30	249					3.1745e-13	4.5781e-13	1	1	0
LRP5	4041	broad.mit.edu	37	11	68179089	68179089	+	Splice_Site	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:68179089G>T	ENST00000294304.7	+	11	2609		c.e11+1			NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5						adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACATGCTGGGTGAGGGCCGG	0.662000													11	33					3.86212e-05	4.22533e-05	1	1	0
PNOC	5368	broad.mit.edu	37	8	28196801	28196801	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:28196801A>T	ENST00000301908.3	+	3	579	c.371A>T	c.(370-372)aAg>aTg	p.K124M	PNOC_ENST00000522209.1_Missense_Mutation_p.K60M	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	124					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		ATGGAGCAGAAGCAGCTGCAG	0.592000													6	58					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11091357	11091357	+	Missense_Mutation	SNP	G	G	T	rs61996285		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:11091357G>T	ENST00000403050.3	+	14	2883	c.2431G>T	c.(2431-2433)Gtt>Ttt	p.V811F	PHF14_ENST00000445996.2_Missense_Mutation_p.V526F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	811							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGTGAAATTTGTTCCACAGGA	0.433000													8	57					0.0581538	0.0590849	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750329	140750329	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140750329T>A	ENST00000576222.1	+	1	499	c.368T>A	c.(367-369)aTc>aAc	p.I123N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTGCTGATCCAGGATATT	0.443000													31	184					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000269305.4_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			11	24					0.000673444	0.000713299	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3474314	3474314	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:3474314G>T	ENST00000520002.1	-	8	1570	c.1015C>A	c.(1015-1017)Caa>Aaa	p.Q339K	CSMD1_ENST00000602557.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q339K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q339K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	339						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCTCCTTGGCTCACTGTA	0.383000													10	19					2.17888e-05	2.41406e-05	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150911608	150911608	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:150911608G>T	ENST00000329903.4	+	6	666	c.633G>T	c.(631-633)ctG>ctT	p.L211L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	211					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAGAAACTGCGAGACAACT	0.493000													32	66					7.16026e-08	8.63189e-08	1	1	0
TBR1	10716	broad.mit.edu	37	2	162273508	162273508	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:162273508A>T	ENST00000389554.3	+	1	904	c.587A>T	c.(586-588)cAg>cTg	p.Q196L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCCTCCACCCAGCCGGGGCTG	0.607000													40	129					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35757437	35757437	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:35757437C>A	ENST00000400441.3	-	14	1782	c.1783G>T	c.(1783-1785)Gct>Tct	p.A595S	MROH8_ENST00000217333.8_Missense_Mutation_p.A424S|MROH8_ENST00000441008.2_Missense_Mutation_p.A581S					maestro heat-like repeat family member 8																		GGGCTTACAGCCACAGCCACA	0.562000													18	91					2.4624e-09	3.17113e-09	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201020186	201020186	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:201020186C>A	ENST00000362061.3	-	33	4265	c.4039G>T	c.(4039-4041)Ggg>Tgg	p.G1347W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1328W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1347	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACTCCTCCCCTGGGGCATAG	0.562000													28	91					2.14196e-07	2.53834e-07	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89448588	89448588	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:89448588G>T	ENST00000336596.2	+	7	1777	c.1552G>T	c.(1552-1554)Ggg>Tgg	p.G518W	EPHA3_ENST00000452448.2_Missense_Mutation_p.G518W|EPHA3_ENST00000494014.1_Missense_Mutation_p.G518W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	518	Fibronectin type-III 2.		G -> L (in a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).			extracellular region|integral to plasma membrane	ATP binding	p.G518L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCTGGATATGGGACGAACAG	0.468000										TSP Lung(6;0.00050)			27	66					2.79863e-10	3.70673e-10	1	1	0
SATL1	340562	broad.mit.edu	37	X	84347563	84347563	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:84347563G>A	ENST00000395409.3	-	6	1921	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SATL1_ENST00000509231.1_Silent_p.S627S|SATL1_ENST00000332921.5_Silent_p.S440S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	454	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGTTGTGATGGCTATCTGTTT	0.353000													4	45					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688551	99688551	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:99688551C>T	ENST00000303904.3	+	6	550	c.513C>T	c.(511-513)gtC>gtT	p.V171V	COPS6_ENST00000418625.1_Silent_p.V170V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	171					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTGAGTCTGTCATTGATATAA	0.448000													87	132					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89418820	89418820	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:89418820C>G	ENST00000260508.4	-	10	1217	c.880G>C	c.(880-882)Ggt>Cgt	p.G294R	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.G260R|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	294					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGATTTGGACCAATGGACCAG	0.338000													10	66					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615577	55615577	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:55615577C>A	ENST00000326258.1	+	1	769	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AACAGCCAGTCTGACCTACCT	0.502000													27	70					3.65163e-15	5.58955e-15	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11995031	11995031	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:11995031G>T	ENST00000333796.3	-	1	1555	c.1239C>A	c.(1237-1239)ccC>ccA	p.P413P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	413					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P413P(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTGGAGGCAGGGGTGGTCTC	0.567000													14	289					4.7546e-09	6.07823e-09	1	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668340	71668340	+	Silent	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:71668340C>G	ENST00000268485.3	+	3	884	c.840C>G	c.(838-840)ctC>ctG	p.L280L	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	280	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTGGAGCCCTCACAGCCCTCT	0.587000													14	93					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89768532	89768532	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:89768532G>A	ENST00000448984.1	+	3	482	c.153G>A	c.(151-153)caG>caA	p.Q51Q	TRIM49C_ENST00000432771.1_Silent_p.Q51Q	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	51						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TTCTTGTCCAGTGCTCTGAAT	0.453000													23	63					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030541	10030541	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:10030541G>A	ENST00000378380.3	+	6	1653	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.A442T|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TCCTGAGTACGCGTTTCCACG	0.463000													14	57					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74345685	74345685	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:74345685C>T	ENST00000263681.2	+	10	1193	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	POLD3_ENST00000527458.1_Missense_Mutation_p.P316L|POLD3_ENST00000532497.1_Missense_Mutation_p.P249L	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	355					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCTCCTCCTCCGTCTCCACCT	0.473000													15	90					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15420855	15420855	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:15420855T>A	ENST00000376030.2	+	9	1696	c.1402T>A	c.(1402-1404)Tgc>Agc	p.C468S		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	468	SAM 1.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CGTCAAGGCCTGCACGGAGAA	0.632000													7	26					0	0	1	0	0
RABIF	5877	broad.mit.edu	37	1	202850334	202850334	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:202850334C>A	ENST00000367262.3	-	2	180	c.144G>T	c.(142-144)atG>atT	p.M48I		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	48					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTTCTTTCTCATGGAGGGAA	0.502000													24	52					9.57634e-11	1.2904e-10	1	1	0
MIR543	100126335	broad.mit.edu	37	14	101498337	101498337	+	RNA	SNP	G	G	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:101498337G>C	ENST00000390751.1	+	0	14					NR_030619.1																						TTAATGAGAAGTTGCCCGTGT	0.502000													15	49					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229026	38229026	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr22:38229026A>G	ENST00000215941.4	-	6	851	c.659T>C	c.(658-660)cTg>cCg	p.L220P	ANKRD54_ENST00000411961.2_Missense_Mutation_p.L204P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L100P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	220										lung(1)	1	Melanoma(58;0.045)					CAGGATATTCAGCTTTGACTT	0.622000													9	42					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532580	50532580	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:50532580A>G	ENST00000374144.3	+	3	2278	c.1990A>G	c.(1990-1992)Aag>Gag	p.K664E	C10orf71_ENST00000323868.4_Missense_Mutation_p.K664E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	664										endometrium(1)	1						AGAGAAAATGAAGACCCACCA	0.532000													8	30					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653847	121653847	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:121653847G>T	ENST00000393386.2	+	12	5158	c.4747G>T	c.(4747-4749)Gca>Tca	p.A1583S	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1583					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGGATCCTGGCAGCAGGTGA	0.458000													98	224					9.98717e-52	1.99173e-51	1	1	0
TSKS	60385	broad.mit.edu	37	19	50249879	50249879	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:50249879C>A	ENST00000246801.3	-	6	922	c.840G>T	c.(838-840)caG>caT	p.Q280H	TSKS_ENST00000358830.3_Missense_Mutation_p.Q80H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	280							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGGGGCAGCCCTGGGACGTGG	0.736000													10	16					0.00010058	0.000109353	1	1	0
FAT3	120114	broad.mit.edu	37	11	92570836	92570836	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:92570836G>T	ENST00000298047.6	+	16	10249	c.10232G>T	c.(10231-10233)gGa>gTa	p.G3411V	FAT3_ENST00000409404.2_Missense_Mutation_p.G3411V|FAT3_ENST00000525166.1_Missense_Mutation_p.G3261V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3411	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGTGTCTGGATACTCTCTG	0.493000										TCGA Ovarian(4;0.039)			16	50					3.41278e-10	4.47767e-10	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33482359	33482359	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:33482359A>T	ENST00000404816.2	+	12	2529	c.2176A>T	c.(2176-2178)Aag>Tag	p.K726*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.K726*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.K400*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.K400*|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.K400*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	726	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTGCTTTTAAGGAAATCTG	0.383000													17	51					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241033401	241033401	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:241033401C>G	ENST00000366565.1	-	7	785	c.404G>C	c.(403-405)aGa>aCa	p.R135T	RGS7_ENST00000407727.1_Missense_Mutation_p.R135T|RGS7_ENST00000348120.2_Missense_Mutation_p.R82T|RGS7_ENST00000401882.1_Missense_Mutation_p.R82T|RGS7_ENST00000366563.1_Missense_Mutation_p.R135T|RGS7_ENST00000366564.1_Missense_Mutation_p.R135T|RGS7_ENST00000331110.7_Missense_Mutation_p.R109T|RGS7_ENST00000446183.2_Missense_Mutation_p.R51T|RGS7_ENST00000366562.4_Missense_Mutation_p.R135T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	135					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGCATTGTTCTCTTGCAGAG	0.418000													11	96					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994657	57994657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:57994657G>T	ENST00000354947.5	+	8	893	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.G245C|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.G293C|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.G275C			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	293	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CATCATTCGGGGCTCTGAACC	0.567000													95	248					5.78178e-49	1.14325e-48	1	1	0
DMD	1756	broad.mit.edu	37	X	33038315	33038315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:33038315C>A	ENST00000357033.4	-	2	240	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E4*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E8*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	12	Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCTCTTTCATCTAAAATG	0.254000													4	17					0.00024832	0.00026748	1	1	0
CDH18	1016	broad.mit.edu	37	5	19612563	19612563	+	Missense_Mutation	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:19612563T>A	ENST00000507958.1	-	8	1781	c.791A>T	c.(790-792)aAc>aTc	p.N264I	CDH18_ENST00000502796.1_Missense_Mutation_p.N264I|CDH18_ENST00000511273.1_Missense_Mutation_p.N264I|CDH18_ENST00000506372.1_Missense_Mutation_p.N264I|CDH18_ENST00000274170.4_Missense_Mutation_p.N264I|CDH18_ENST00000382275.1_Missense_Mutation_p.N264I			Q13634	CAD18_HUMAN	cadherin 18, type 2	264	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCGTGGTGGGTTGTCATTGAC	0.383000													27	60					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910208	910208	+	Silent	SNP	T	T	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:910208T>A	ENST00000316157.3	-	3	184	c.144A>T	c.(142-144)gtA>gtT	p.V48V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	48							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAGTTGCTGGTACCTAGGAAG	0.433000													5	47					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20832989	20832989	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:20832989A>T	ENST00000359062.3	+	16	3250	c.3210A>T	c.(3208-3210)aaA>aaT	p.K1070N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1070	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAAGGAGAAAAATCTACTGCC	0.363000													11	74					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103309520	103309520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr13:103309520G>T	ENST00000376052.3	+	25	3122	c.3106G>T	c.(3106-3108)Gaa>Taa	p.E1036*	TPP2_ENST00000376065.4_Nonsense_Mutation_p.E1023*|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1023					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGTTTACTGAAGCATTACG	0.284000													37	62					1.71298e-08	2.14276e-08	1	1	0
GOT1L1	137362	broad.mit.edu	37	8	37793267	37793267	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:37793267C>T	ENST00000307599.4	-	7	983	c.884G>A	c.(883-885)cGt>cAt	p.R295H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.R36H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	295					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GGTGATGACACGTGCACCCGT	0.617000													6	49					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227664	75227664	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:75227664C>A	ENST00000342232.4	-	2	611	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	191					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACGAAACCGCCGCGGGTGCCG	0.682000													21	59					1.64113e-05	1.82989e-05	1	1	0
OR7A10	390892	broad.mit.edu	37	19	14952518	14952518	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:14952518G>A	ENST00000248058.1	-	1	171	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAGTACATGGGGGTGTGGAGG	0.527000													28	47					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29773638	29773638	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:29773638C>T	ENST00000375398.2	-	29	5351	c.4902G>A	c.(4900-4902)gaG>gaA	p.E1634E	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.E1208E|SVIL_ENST00000538146.1_Silent_p.E426E|SVIL_ENST00000535393.1_Silent_p.E548E|SVIL_ENST00000355867.4_Silent_p.E1634E			O95425	SVIL_HUMAN	supervillin	1634	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTCACAGTTCTCATAGTCAA	0.493000													5	27					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291997	56291997	+	Missense_Mutation	SNP	A	A	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:56291997A>T	ENST00000374928.3	+	4	952	c.466A>T	c.(466-468)Atc>Ttc	p.I156F	KLF8_ENST00000468660.1_Missense_Mutation_p.I156F	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TAGCCAGCAGATCTTACATGT	0.517000													34	105					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153591030	153591030	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:153591030C>A	ENST00000422373.1	-	16	2651	c.2404_splice	c.e16+1	p.Q801_splice	FLNA_ENST00000369850.3_Splice_Site_p.Q801_splice|FLNA_ENST00000344736.4_Splice_Site_p.Q801_splice|FLNA_ENST00000360319.4_Splice_Site_p.Q801_splice	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	801					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCCTTACCCTGGCCAGCCT	0.672000													7	43					0.0293803	0.0299379	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54799678	54799678	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:54799678G>T	ENST00000293379.4	-	10	1200	c.939C>A	c.(937-939)tcC>tcA	p.S313S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	313					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTGTAGAGGGATCGAATGT	0.522000													26	109					2.08973e-25	3.73051e-25	1	1	0
RRAD	6236	broad.mit.edu	37	16	66956151	66956151	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:66956151C>A	ENST00000299759.6	-	5	1005	c.755G>T	c.(754-756)cGc>cTc	p.R252L	RRAD_ENST00000420652.1_Missense_Mutation_p.R252L			P55042	RAD_HUMAN	Ras-related associated with diabetes	252					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCTGCGCAGGCGTATCTGGCG	0.607000													8	42					0.000274275	0.000294077	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111604428	111604428	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:111604428C>T	ENST00000478922.1	+	2	1647	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L	PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393925.3_Intron			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCCATATCACTATTAATAGG	0.383000													3	5					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30903521	30903521	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:30903521G>A	ENST00000383096.3	-	11	1138	c.956C>T	c.(955-957)gCt>gTt	p.A319V	CCDC178_ENST00000579947.1_Missense_Mutation_p.A319V|CCDC178_ENST00000583930.1_Missense_Mutation_p.A319V|CCDC178_ENST00000403303.1_Missense_Mutation_p.A319V|CCDC178_ENST00000406524.2_Missense_Mutation_p.A319V|CCDC178_ENST00000402325.1_Missense_Mutation_p.A319V|CCDC178_ENST00000300227.8_Missense_Mutation_p.A319V|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		AATTTGCTGAGCCTTCAATCT	0.328000													7	17					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686425	67686425	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:67686425G>T	ENST00000334583.6	+	28	3196	c.2868G>T	c.(2866-2868)ctG>ctT	p.L956L	RLTPR_ENST00000545661.1_Silent_p.L920L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	956	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTCTTCACCTGGTCCCCTTCA	0.587000													3	28					0.004672	0.00483836	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43896073	43896073	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:43896073C>A	ENST00000389420.3	-	4	748	c.749G>T	c.(748-750)aGg>aTg	p.R250M	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R250M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	250						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGTTTTTTCCTGGAATGTCT	0.323000													22	84					6.33239e-15	9.62964e-15	1	1	0
ENG	2022	broad.mit.edu	37	9	130586704	130586704	+	Missense_Mutation	SNP	G	G	T	rs45439096		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:130586704G>T	ENST00000344849.3	-	8	1293	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Missense_Mutation_p.P338H			P17813	EGLN_HUMAN	endoglin	338	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GATCGGTGCGGGTGAGGTCTG	0.582000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				15	20					1.49906e-05	1.67415e-05	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139661907	139661907	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:139661907C>A	ENST00000303045.6	-	46	3894		c.e46+1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTCTCCTTACCTTTTTCCCT	0.493000										HNSCC(7;0.00092)			3	27					0.00909568	0.00930907	1	1	0
ZBTB7B	51043	broad.mit.edu	37	1	154989067	154989067	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:154989067G>T	ENST00000368426.3	+	4	1663	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G509V|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G543V|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G509V	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	509				GP -> WA (in Ref. 1; AAC51847).	cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCCCCACTGGGCCCCCGGTC	0.652000													8	21					5.18039e-06	5.88911e-06	1	1	0
DSC2	1824	broad.mit.edu	37	18	28651722	28651722	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr18:28651722C>A	ENST00000280904.6	-	13	2417	c.1974G>T	c.(1972-1974)atG>atT	p.M658I	DSC2_ENST00000251081.6_Missense_Mutation_p.M658I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	658	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGACACTAGACATGCCAAGTC	0.418000													8	34					0.000157383	0.000170845	1	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													12	339					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757559	242757559	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:242757559C>A	ENST00000391969.2	+	5	1351	c.640C>A	c.(640-642)Ctc>Atc	p.L214I	NEU4_ENST00000404257.1_Missense_Mutation_p.L226I|NEU4_ENST00000405370.1_Missense_Mutation_p.L214I|NEU4_ENST00000325935.6_Missense_Mutation_p.L227I|NEU4_ENST00000407683.1_Missense_Mutation_p.L214I	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	214						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTGTGGAGGCCTCGTGCCCAA	0.682000													9	18					4.68919e-08	5.72212e-08	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88962934	88962934	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:88962934C>A	ENST00000333190.4	+	4	1247	c.638C>A	c.(637-639)gCa>gAa	p.A213E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	213						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCAGCAATGCAAATCACAGA	0.393000										HNSCC(36;0.09)			24	101					3.08376e-08	3.81643e-08	1	1	0
SLC38A1	81539	broad.mit.edu	37	12	46582854	46582854	+	Splice_Site	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:46582854C>A	ENST00000398637.5	-	17	2057	c.1362_splice	c.e17-1	p.A455_splice	SLC38A1_ENST00000546893.1_Splice_Site_p.A455_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.A455_splice|SLC38A1_ENST00000439706.1_Splice_Site_p.A455_splice	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	455					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAAAGGGCAGCCTGGAGCAAG	0.483000													20	60					5.35267e-07	6.26873e-07	1	1	0
MGAM	8972	broad.mit.edu	37	7	141768483	141768483	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:141768483C>T	ENST00000475668.2	+	43	5095	c.5041C>T	c.(5041-5043)Cgt>Tgt	p.R1681C	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1681	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTAGAGCCCGTTGGTACGA	0.423000													33	61					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34497158	34497158	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:34497158C>A	ENST00000242317.4	+	10	1033	c.862C>A	c.(862-864)Cgg>Agg	p.R288R		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	288					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GATCATGGAGCGGATGGTCAA	0.403000									Kartagener syndrome				43	187					1.23103e-26	2.2203e-26	1	1	0
TP73-AS1	57212	broad.mit.edu	37	1	3662336	3662336	+	RNA	SNP	C	C	A	rs74910456		TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:3662336C>A	ENST00000452079.1	-	0	1550				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						GTGCCGGGCTCCCGAAGCCCA	0.642000													11	28					0.0809354	0.0821118	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67283997	67283997	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:67283997C>A	ENST00000355520.5	-	21	2498	c.1857G>T	c.(1855-1857)ccG>ccT	p.P619P	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	619					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TAGTACCATTCGGTGTTTGAT	0.433000													47	136					1.51926e-22	2.6055e-22	1	1	0
TRAPPC5	126003	broad.mit.edu	37	19	7747565	7747565	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:7747565C>T	ENST00000317378.5	+	2	613	c.426C>T	c.(424-426)ttC>ttT	p.F142F	TRAPPC5_ENST00000596148.1_Silent_p.F142F|TRAPPC5_ENST00000426877.2_Silent_p.F142F|TRAPPC5_ENST00000595985.1_Silent_p.F75F|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	142					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						GCGCCAGCTTCACGGCGGGCA	0.622000													8	14					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122757776	122757776	+	Missense_Mutation	SNP	T	T	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:122757776T>G	ENST00000245838.8	-	28	3396	c.3365A>C	c.(3364-3366)aAt>aCt	p.N1122T	THOC2_ENST00000355725.4_Missense_Mutation_p.N1122T|THOC2_ENST00000491737.1_Missense_Mutation_p.N1007T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1122					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AATCAAGATATTCCTGATGTG	0.358000													19	133					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079922	38079922	+	Missense_Mutation	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:38079922G>A	ENST00000356545.2	-	6	1157	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	RSPO1_ENST00000373059.1_Missense_Mutation_p.R97C|RSPO1_ENST00000401068.1_Missense_Mutation_p.R124C|RSPO1_ENST00000401071.2_Missense_Mutation_p.R124C|RSPO1_ENST00000401069.1_Missense_Mutation_p.R124C|RSPO1_ENST00000401070.1_Missense_Mutation_p.R124C	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	124					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGATAGCAGCGGCCCTTGTGC	0.577000													13	54					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539198	55539198	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:55539198G>T	ENST00000220676.1	+	4	2904	c.2756G>T	c.(2755-2757)tGg>tTg	p.W919L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	919					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)			ATACAGAGTTGGTTGCAGAAC	0.333000													12	63					1.08611e-07	1.29812e-07	1	1	0
TAS2R31	259290	broad.mit.edu	37	12	11183899	11183899	+	Silent	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:11183899C>A	ENST00000390675.2	-	1	107	c.36G>T	c.(34-36)gtG>gtT	p.V12V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	12					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GAACCACTACCACACTGGAAA	0.383000													10	81					7.48243e-07	8.67564e-07	1	1	0
MOGAT1	116255	broad.mit.edu	37	2	223574475	223574475	+	Missense_Mutation	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:223574475C>G	ENST00000446656.3	+	6	874	c.874C>G	c.(874-876)Cgt>Ggt	p.R292G		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	292					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GATCCCTGTTCGTCAGACTCT	0.498000													69	154					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107823244	107823244	+	Missense_Mutation	SNP	A	A	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr7:107823244A>G	ENST00000379028.3	-	23	2895	c.2425T>C	c.(2425-2427)Tca>Cca	p.S809P	NRCAM_ENST00000351718.4_Missense_Mutation_p.S793P|NRCAM_ENST00000413765.2_Missense_Mutation_p.S790P|NRCAM_ENST00000379022.4_Missense_Mutation_p.S809P|NRCAM_ENST00000425651.2_Missense_Mutation_p.S809P|NRCAM_ENST00000379024.4_Missense_Mutation_p.S790P			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	809	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGCGTGCCTGAGACAATATAT	0.488000													47	103					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851022	26851022	+	Missense_Mutation	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:26851022C>T	ENST00000226247.2	+	1	64	c.35C>T	c.(34-36)aCg>aTg	p.T12M	FOXN1_ENST00000579795.1_Missense_Mutation_p.T12M	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	12					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TCTGACGTCACGCTGCCGGGC	0.672000													8	35					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363820	13363820	+	Missense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:13363820C>A	ENST00000254508.5	-	35	4870	c.4788G>T	c.(4786-4788)caG>caT	p.Q1596H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1596					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGACTTCCCTCTGGGTGGGGG	0.617000													45	88					3.54909e-21	5.89825e-21	1	1	0
GPIHBP1	338328	broad.mit.edu	37	8	144297150	144297150	+	Silent	SNP	C	C	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:144297150C>T	ENST00000330824.2	+	4	387	c.312C>T	c.(310-312)acC>acT	p.T104T		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	104	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCTCCTGACCACCCACTCCA	0.652000													35	92					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42271157	42271157	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:42271157G>T	ENST00000373030.3	+	13	1289	c.1159G>T	c.(1159-1161)Ggt>Tgt	p.G387C	IFT52_ENST00000373039.4_Missense_Mutation_p.G387C|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	387						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGGAAGTGTGGTGATATTCT	0.408000													43	99					1.62957e-23	2.82945e-23	1	1	0
ZSCAN31	64288	broad.mit.edu	37	6	28295182	28295182	+	Silent	SNP	G	G	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:28295182G>A	ENST00000414429.1	-	7	1413	c.510C>T	c.(508-510)tgC>tgT	p.C170C	ZSCAN31_ENST00000396838.2_Silent_p.C170C|ZSCAN31_ENST00000446474.1_Silent_p.C11C|ZSCAN31_ENST00000344279.6_Silent_p.C170C|ZSCAN31_ENST00000439158.1_Silent_p.C170C					zinc finger and SCAN domain containing 31																		ATTGGTGGAGGCAAAAAGATT	0.463000													23	134					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347478	91347478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:91347478C>A	ENST00000358859.2	-	1	1475	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TCGTTCTCCTCCAGGAcctcc	0.498000													25	94					7.92952e-12	1.10475e-11	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42560892	42560892	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr19:42560892G>T	ENST00000262895.3	-	7	824	c.825C>A	c.(823-825)ccC>ccA	p.P275P	GRIK5_ENST00000301218.4_Silent_p.P275P|GRIK5_ENST00000593562.1_Silent_p.P275P	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	275						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CAGGGTAGAAGGGGTGGGACG	0.582000													27	54					4.7796e-09	6.09902e-09	1	1	0
ABCC5	10057	broad.mit.edu	37	3	183700403	183700403	+	Missense_Mutation	SNP	T	T	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr3:183700403T>C	ENST00000334444.6	-	7	1075	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.I279V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	279	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGGAGCAAATGTTGATGAGC	0.498000													20	75					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33335697	33335697	+	Silent	SNP	C	C	G			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:33335697C>G	ENST00000404816.2	+	4	1265	c.912C>G	c.(910-912)acC>acG	p.T304T	LTBP1_ENST00000354476.3_Silent_p.T304T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	304					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGGCCAGACCCAGGAATACG	0.448000													45	137					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356476	131356476	+	Missense_Mutation	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr9:131356476G>T	ENST00000358161.5	+	24	3351	c.3238G>T	c.(3238-3240)Ggt>Tgt	p.G1080C	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1080C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1080C			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1080					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCTGGAACTGGGTGAGAAGCG	0.453000													36	44					6.70999e-13	9.59748e-13	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86087948	86087948	+	Silent	SNP	G	G	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:86087948G>T	ENST00000330753.4	+	2	857	c.90G>T	c.(88-90)gtG>gtT	p.V30V	FLRT2_ENST00000554746.1_Silent_p.V30V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	30					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTCACAGGTGTCCAAACTCC	0.542000													39	103					1.60099e-16	2.49997e-16	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													7	101	---	---	---	---					
SUSD4	55061	broad.mit.edu	37	1	223402558	223402579	+	Frame_Shift_Del	DEL	TTGATAAGAAGGAAACCACTCT	TTGATAAGAAGGAAACCACTCT	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr1:223402558_223402579delTTGATAAGAAGGAAACCACTCT	ENST00000343846.3	-	5	1509_1530	c.876_897delAGAGTGGTTTCCTTCTTATCAA	c.(874-897)ggfs	p.GEWFPSYQ292fs	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.GEWFPSYQ292fs|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.GEWFPSYQ132fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	292	Sushi 4.					integral to membrane		p.Q299E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGCAGTAGACTTGATAAGAAGGAAACCACTCTCCATACTGGC	0.514													8	111	---	---	---	---					
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458486	90458486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr2:90458486delT	ENST00000603238.1	+	2	162	c.162delT	c.(160-162)aafs	p.54fs																								ATAATTTAAATTGGTATCAGC	0.498													23	161	---	---	---	---					
GC	2638	broad.mit.edu	37	4	72618268	72618268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr4:72618268delG	ENST00000273951.8	-	11	1705	c.1362delC	c.(1360-1362)tcfs	p.S454fs	GC_ENST00000504199.1_Frame_Shift_Del_p.S473fs|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Frame_Shift_Del_p.S454fs	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	454	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTGAGTTTATGGAACAGCAGT	0.453													30	97	---	---	---	---					
PCDHGA3	56112	broad.mit.edu	37	5	140725947	140725948	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr5:140725947_140725948delGA	ENST00000253812.6	+	1	2347_2348	c.2347_2348delGA	c.(2347-2349)gfs	p.E783fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCCAGGAGAGCTGTGAG	0.490													79	121	---	---	---	---					
KCNQ5	56479	broad.mit.edu	37	6	73815020	73815020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr6:73815020delT	ENST00000342056.2	+	6	1357	c.959delT	c.(958-960)cafs	p.L320fs	KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.L320fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	320					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAACTCCCCTAACTTGGCTG	0.403													86	179	---	---	---	---					
CDH17	1015	broad.mit.edu	37	8	95158285	95158285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr8:95158285delG	ENST00000027335.3	-	15	2162	c.2038delC	c.(2038-2040)tcfs	p.L680fs	CDH17_ENST00000450165.2_Frame_Shift_Del_p.L680fs|CDH17_ENST00000441892.2_Frame_Shift_Del_p.L466fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	680	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGTGCACTGAGGGGATGGCAG	0.502													22	75	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	9	---	---	---	---					
OR10Q1	219960	broad.mit.edu	37	11	57995829	57995829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr11:57995829delG	ENST00000316770.2	-	1	561	c.519delC	c.(517-519)tgfs	p.C173fs		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C173C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTGGTGGCCGCAAAAGGGCA	0.652													11	44	---	---	---	---					
PTPN6	5777	broad.mit.edu	37	12	7064388	7064388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:7064388delG	ENST00000456013.1	+	5	833	c.591delG	c.(589-591)acfs	p.T197fs	PTPN6_ENST00000399448.1_Frame_Shift_Del_p.T199fs|PTPN6_ENST00000447931.2_Frame_Shift_Del_p.T158fs|PTPN6_ENST00000318974.9_Frame_Shift_Del_p.T197fs	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	197	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCAAGAAGACGGGGATTGAGG	0.622													33	133	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	8998750	8998751	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:8998750_8998751insT	ENST00000299698.7	+	14	1795_1796	c.1615_1616insT	c.(1615-1617)tttfs	p.F539fs	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.F48fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	383						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCTATGCCATTTTTCCCAGT	0.455													33	158	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100441868	100441869	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr12:100441868_100441869insT	ENST00000279907.7	-	18	4036_4037	c.3824_3825insA	c.(3823-3825)aggfs	p.R1275fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R925fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1275										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCAGAAATCCATTTTTTTCTGC	0.371													11	80	---	---	---	---					
EXOC5	10640	broad.mit.edu	37	14	57735365	57735366	+	Translation_Start_Site	INS	-	-	T			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr14:57735365_57735366insT	ENST00000413566.2	-	0	360_361				EXOC5_ENST00000340918.7_Start_Codon_Ins	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CGTGGTAGCCATCCCGGCCGGC	0.738													2	4	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													7	329	---	---	---	---					
PCGF2	7703	broad.mit.edu	37	17	36895068	36895070	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:36895068_36895070delCTC	ENST00000580830.1	-	8	1062_1064	c.361_363delGAG	c.(361-363)del	p.E121del	PCGF2_ENST00000581345.1_In_Frame_Del_p.E121del|PCGF2_ENST00000585100.1_In_Frame_Del_p.E121del|PCGF2_ENST00000579882.1_In_Frame_Del_p.E121del|PCGF2_ENST00000360797.2_In_Frame_Del_p.E121del|PCGF2_ENST00000578109.1_In_Frame_Del_p.E67del			P35227	PCGF2_HUMAN	polycomb group ring finger 2	121					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAGCCCCCTTCTCCTGCTCCAAG	0.601													9	201	---	---	---	---					
ITGA2B	3674	broad.mit.edu	37	17	42457436	42457437	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr17:42457436_42457437delGG	ENST00000262407.5	-	17	1716_1717	c.1685_1686delCC	c.(1684-1686)afs	p.T563fs	ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.T563fs|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	563					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGTTCAGGGTGGTGCCTGCCTG	0.673													16	52	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
IL1RAPL1	11141	broad.mit.edu	37	X	28807530	28807530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:28807530delA	ENST00000378993.1	+	2	743	c.70delA	c.(70-72)aafs	p.K24fs	IL1RAPL1_ENST00000302196.4_Frame_Shift_Del_p.K24fs	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	24	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGTTGTGACCAAAAGAGGCTC	0.398													19	83	---	---	---	---					
ZNF75D	7626	broad.mit.edu	37	X	134426224	134426225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:134426224_134426225insA	ENST00000370766.3	-	4	3295_3296	c.586_587insT	c.(586-588)gccfs	p.A196fs	ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	196					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATATACAGGCTGGGTTTCTTTG	0.465													19	160	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153908478	153908490	+	Frame_Shift_Del	DEL	CCACGTAAGGGCA	CCACGTAAGGGCA	-			TCGA-69-A59K-01A-11D-A25L-08	TCGA-69-A59K-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C09B60EF-3DCD-4F14-98EA-E6391D4F14BE	F15A5144-1276-4D12-8A01-C3C6644FEE4F	g.chrX:153908478_153908490delCCACGTAAGGGCA	ENST00000369575.3	-	9	1594_1606	c.1563_1575delTGCCCTTACGTGG	c.(1561-1575)ggfs	p.GALTW521fs	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Frame_Shift_Del_p.GALTW522fs	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	521										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTCTTTGTCCACGTAAGGGCACCACTGCTCA	0.507													21	255	---	---	---	---					
