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
MOGS	7841	broad.mit.edu	37	2	74691745	74691745	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:74691745C>T	ENST00000233616.4	-	2	619	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.G47S|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.G153S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	153					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAGGAGAGGCCGTCGTGGAAC	0.657000													19	52					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28884058	28884058	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:28884058G>T	ENST00000359285.5	+	8	2153	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Intron|SH2B1_ENST00000395532.4_Intron|SH2B1_ENST00000337120.5_Intron|SH2B1_ENST00000545570.1_Silent_p.V333V	NM_001145795.1|NM_001145796.1|NM_001145797.1	NP_001139267.1|NP_001139268.1|NP_001139269.1	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	642					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGAGGAGGTGCCCGTGCACC	0.597000													8	12					0.000157383	0.000183459	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141421	143141421	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:143141421C>T	ENST00000332690.1	+	1	876	c.876C>T	c.(874-876)caC>caT	p.H292H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	292					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAGCAGTTCACCCCATCATTC	0.493000													85	103					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94417524	94417524	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:94417524C>T	ENST00000555019.1	-	6	1131	c.701G>A	c.(700-702)cGc>cAc	p.R234H	ASB2_ENST00000315988.4_Missense_Mutation_p.R186H|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	186					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCGGTTGCAGCGGTGGTTGGT	0.617000													5	58					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37697666	37697666	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:37697666C>A	ENST00000315215.7	+	14	2251	c.1888C>A	c.(1888-1890)Cta>Ata	p.L630I	GPR124_ENST00000412232.2_Missense_Mutation_p.L847I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	847					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTACTCCTCCCTATCCACGCT	0.657000													12	41					1.5842e-08	2.17483e-08	1	1	0
GZMM	3004	broad.mit.edu	37	19	549790	549790	+	Nonstop_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:549790G>T	ENST00000264553.3	+	5	811	c.773G>T	c.(772-774)tGa>tTa	p.*258L		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	0					apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATCGGCCTGATGCCCTGGG	0.667000													9	23					0.000442599	0.000508409	1	1	0
IRX1	79192	broad.mit.edu	37	5	3599693	3599693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:3599693G>T	ENST00000302006.3	+	2	683	c.631G>T	c.(631-633)Gag>Tag	p.E211*	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCGACACCGAGGGCGACCC	0.627000													16	36					2.32078e-09	3.26568e-09	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141010	143141010	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:143141010C>A	ENST00000332690.1	+	1	465	c.465C>A	c.(463-465)acC>acA	p.T155T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	155					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCAGCTTCACCACCATTCTAT	0.468000													48	144					1.86633e-21	3.45228e-21	1	1	0
ZNF503	84858	broad.mit.edu	37	10	77158972	77158972	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:77158972C>A	ENST00000372524.4	-	2	1962	c.1476G>T	c.(1474-1476)ccG>ccT	p.P492P	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.P492P	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCAGGGAGGGCGGTGTGGCGC	0.701000													5	9					0.000602214	0.000677921	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804503	22804503	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:22804503T>A	ENST00000361524.3	-	4	3527	c.3379A>T	c.(3379-3381)Att>Ttt	p.I1127F	ZNF521_ENST00000538137.2_Missense_Mutation_p.I1127F|ZNF521_ENST00000584787.1_Missense_Mutation_p.I907F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1127					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCCCCTCAATGGCACTCAGA	0.542000			T	PAX5	ALL								16	23					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714077	35714077	+	Splice_Site	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:35714077G>A	ENST00000314888.9	-	25	3475	c.3120_splice	c.e25-1	p.A1041_splice	TLN1_ENST00000540444.1_Splice_Site_p.A1041_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1041					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTTCCTGAGCCTATGATAA	0.468000													17	51					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569092	55569092	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:55569092C>A	ENST00000395445.1	-	36	5112	c.4718G>T	c.(4717-4719)cGc>cTc	p.R1573L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.R507L|PCDH15_ENST00000395442.1_Missense_Mutation_p.R438L|PCDH15_ENST00000395446.1_Missense_Mutation_p.R769L	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTCAAGGCGTCTCTGCCA	0.428000										HNSCC(58;0.16)			14	35					0.000151284	0.000179536	1	1	0
SLTM	79811	broad.mit.edu	37	15	59185114	59185114	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:59185114C>A	ENST00000380516.2	-	14	1967	c.1880G>T	c.(1879-1881)cGa>cTa	p.R627L	SLTM_ENST00000536328.1_Missense_Mutation_p.R196L|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	627	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCATTGCTCGTCGCAGCCT	0.348000													26	37					1.17739e-12	1.81208e-12	1	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706374	41706374	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:41706374C>T	ENST00000379485.1	-	1	508	c.274G>A	c.(274-276)Gca>Aca	p.A92T	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	92	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TAGGGACATGCCGCGGCCAGC	0.632000													3	50					0	0	1	0	0
APOBEC3A	200315	broad.mit.edu	37	22	39355689	39355689	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:39355689C>A	ENST00000402255.1	+	3	376	c.172C>A	c.(172-174)Cag>Aag	p.Q58K	APOBEC3A_ENST00000249116.2_Missense_Mutation_p.Q58K					apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TCTACACAACCAGGTGACCGA	0.557000													8	13					0.0477658	0.0496562	1	1	0
LPA	4018	broad.mit.edu	37	6	161007654	161007654	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:161007654G>C	ENST00000447678.1	-	26	4076	c.3956C>G	c.(3955-3957)aCc>aGc	p.T1319S	LPA_ENST00000316300.5_Missense_Mutation_p.T1319S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3827	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAGTTCCTGGTCAGGCCACT	0.473000													18	34					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451200	70451200	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:70451200G>T	ENST00000373644.4	+	12	6249	c.6040G>T	c.(6040-6042)Gct>Tct	p.A2014S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2014					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATCGCACCTGCTCACGGCTC	0.542000													25	48					7.92952e-12	1.17452e-11	1	1	0
HRNR	388697	broad.mit.edu	37	1	152193272	152193272	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:152193272C>A	ENST00000368801.2	-	3	908	c.833G>T	c.(832-834)gGt>gTt	p.G278V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	278					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)			GGAAGACGAACCTGAGCTAGA	0.577000													38	209					1.32003e-40	2.62674e-40	1	1	0
SGCD	6444	broad.mit.edu	37	5	155771502	155771502	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:155771502C>A	ENST00000435422.3	+	2	491	c.4C>A	c.(4-6)Cct>Act	p.P2T	SGCD_ENST00000337851.4_Missense_Mutation_p.P3T|SGCD_ENST00000517913.1_Missense_Mutation_p.P3T|SGCD_ENST00000447401.1_Missense_Mutation_p.P3T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	2					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTCAGATGCCTCAGGAGCA	0.463000													23	43					7.87624e-14	1.25637e-13	1	1	0
TAAR6	319100	broad.mit.edu	37	6	132891872	132891872	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:132891872C>A	ENST00000275198.1	+	1	412	c.412C>A	c.(412-414)Ctg>Atg	p.L138M		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	138						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TACTGACCCCCTGGTCTATCC	0.493000													29	217					6.38683e-12	9.49589e-12	1	1	0
EIF3M	10480	broad.mit.edu	37	11	32622378	32622378	+	Splice_Site	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:32622378G>T	ENST00000531120.1	+	9	1006	c.943_splice	c.e9+1	p.A315_splice	EIF3M_ENST00000524896.1_Splice_Site_p.A183_splice	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	315	PCI.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGTTATTGACGGTAAGGCAGA	0.338000													23	74					1.85244e-09	2.6254e-09	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157665957	157665957	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:157665957G>T	ENST00000368184.3	-	7	1296	c.1005C>A	c.(1003-1005)acC>acA	p.T335T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T335T|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	335	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGAACGCTGGGTCTTTCTAC	0.507000													39	30					7.61001e-30	1.49917e-29	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160098612	160098612	+	Silent	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:160098612T>C	ENST00000361216.3	+	9	1277	c.1188T>C	c.(1186-1188)caT>caC	p.H396H	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.H396H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	396					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCAAATCCATGAGGCTGACA	0.607000													16	44					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18138482	18138482	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:18138482C>T	ENST00000355028.3	+	2	131	c.5C>T	c.(4-6)gCg>gTg	p.A2V	BCL2L13_ENST00000418951.2_Missense_Mutation_p.A2V|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000493680.1_Missense_Mutation_p.A2V|BCL2L13_ENST00000317582.5_Missense_Mutation_p.A2V|BCL2L13_ENST00000399782.1_Missense_Mutation_p.A2V|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000538149.1_5'UTR	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	2					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AATTCAATGGCGTCCTCTTCT	0.393000													10	29					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819739	141819739	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:141819739C>A	ENST00000389484.3	-	8	2088	c.1117G>T	c.(1117-1119)Gct>Tct	p.A373S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	373					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)		GCCAGTGCAGCTGGCTGCTCT	0.433000										TSP Lung(27;0.18)			26	74					9.57634e-11	1.38716e-10	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46008077	46008077	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:46008077C>A	ENST00000296137.2	-	8	2954	c.2749G>T	c.(2749-2751)Gtg>Ttg	p.V917L	FYCO1_ENST00000535325.1_Missense_Mutation_p.V917L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	917					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCTTTTCCACGGTCAGTGCG	0.642000													7	25					0.000157383	0.000183459	1	1	0
TLL2	7093	broad.mit.edu	37	10	98156977	98156977	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:98156977G>T	ENST00000357947.3	-	11	1575	c.1350C>A	c.(1348-1350)aaC>aaA	p.N450K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	450	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGCCCAAGATGTTGCTGCTGC	0.587000													19	32					5.03518e-11	7.32052e-11	1	1	0
CDH4	1002	broad.mit.edu	37	20	60503472	60503472	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:60503472C>A	ENST00000360469.5	+	12	2084	c.1996C>A	c.(1996-1998)Cgc>Agc	p.R666S	CDH4_ENST00000543233.1_Missense_Mutation_p.R592S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	666	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.R666S(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCATCACCCGCCTGAACGG	0.682000													68	36					7.73544e-29	1.5163e-28	1	1	0
FAT3	120114	broad.mit.edu	37	11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	Laminin G-like.				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)				CTAGCTCTGCGTCTTCGAACA	0.393000										TCGA Ovarian(4;0.039)			4	19					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42165072	42165072	+	Missense_Mutation	SNP	G	G	A	rs143376857	byFrequency	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:42165072G>A	ENST00000444063.1	+	16	2009	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R631Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R626Q|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R694Q|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.R694Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	626					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCGAAGTATCGAAAGATTCCG	0.542000													5	36					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113750896	113750896	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:113750896G>C	ENST00000375601.3	+	29	3560	c.3233G>C	c.(3232-3234)gGc>gCc	p.G1078A	MCF2L_ENST00000442652.2_Missense_Mutation_p.G1104A|MCF2L_ENST00000375604.2_Missense_Mutation_p.G1131A|MCF2L_ENST00000535094.2_Missense_Mutation_p.G1074A|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000423482.2_Missense_Mutation_p.G1072A|MCF2L_ENST00000434480.2_Missense_Mutation_p.G1080A|MCF2L_ENST00000375608.3_Missense_Mutation_p.G1104A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1104	SH3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGCAAGGAGGGCTGGGTGCCG	0.736000													4	8					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68518116	68518116	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:68518116G>C	ENST00000443940.2	-	2	99	c.13C>G	c.(13-15)Cct>Gct	p.P5A	MTL5_ENST00000544963.1_Missense_Mutation_p.P5A|MTL5_ENST00000255087.5_Missense_Mutation_p.P5A			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	5					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCGGCAGAGGGCCCTCCTCC	0.726000													6	6					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228540695	228540695	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:228540695G>T	ENST00000570156.2	+	90	21538	c.21464G>T	c.(21463-21465)cGc>cTc	p.R7155L	OBSCN_ENST00000284548.11_Missense_Mutation_p.R6198L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3317L|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3832L|OBSCN_ENST00000422127.1_Missense_Mutation_p.R6198L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6198					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)				GCGGAGCTGCGCATTCAGAGC	0.687000													3	2					1	1	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263842	34263842	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:34263842C>T	ENST00000262622.3	+	4	1907	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	CHST8_ENST00000438847.2_Silent_p.T383T|CHST8_ENST00000434302.1_Silent_p.T383T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	383					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGGCGCGGACCACAGCGAGGA	0.602000													12	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423890	25423890	+	RNA	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:25423890G>T	ENST00000441592.2	+	0	399				SNORD115-5_ENST00000363633.1_RNA																							GGGTTGGATCGATGATGAGAA	0.532000													72	145					8.83742e-36	1.74972e-35	1	1	0
PSG3	5671	broad.mit.edu	37	19	43243222	43243222	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:43243222C>A	ENST00000327495.5	-	2	268	c.84G>T	c.(82-84)tgG>tgT	p.W28C	PSG3_ENST00000595140.1_Missense_Mutation_p.W28C|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	28					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TAGGCAAGTTCCAGAAGTTTA	0.483000													57	32					2.14255e-21	3.94469e-21	1	1	0
LATS2	26524	broad.mit.edu	37	13	21549420	21549420	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:21549420G>A	ENST00000382592.4	-	8	3261	c.2856C>T	c.(2854-2856)tgC>tgT	p.C952C	LATS2_ENST00000542899.1_Silent_p.C952C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	952	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGCGGAGCAGCACAGCTTGG	0.607000													14	26					0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32016569	32016569	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:32016569G>A	ENST00000382151.2	-	7	1292	c.873C>T	c.(871-873)aaC>aaT	p.N291N	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000439502.2_Silent_p.N325N|PISD_ENST00000266095.5_Silent_p.N291N|PISD_ENST00000336566.4_Silent_p.N324N|PISD_ENST00000397500.1_Intron			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	325					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGGAGCCCACGTTGGTGGCCC	0.582000													5	36					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45912381	45912381	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:45912381G>A	ENST00000311275.7	-	9	1009	c.756C>T	c.(754-756)atC>atT	p.I252I	ZMYND8_ENST00000262975.4_Silent_p.I252I|ZMYND8_ENST00000360911.3_Silent_p.I247I|ZMYND8_ENST00000471951.2_Silent_p.I272I|ZMYND8_ENST00000458360.2_Silent_p.I247I|ZMYND8_ENST00000396281.4_Silent_p.I252I|ZMYND8_ENST00000446994.2_Silent_p.I189I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Silent_p.I272I|ZMYND8_ENST00000352431.2_Silent_p.I272I|ZMYND8_ENST00000355972.4_Silent_p.I252I|ZMYND8_ENST00000536340.1_Silent_p.I279I|ZMYND8_ENST00000540497.1_Silent_p.I247I|ZMYND8_ENST00000372023.3_Silent_p.I247I			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	252							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GACATACTTCGATTTCATTCA	0.368000													16	54					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692599	44692599	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:44692599C>A	ENST00000381176.4	-	3	366	c.234G>T	c.(232-234)gcG>gcT	p.A78A		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	78						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCATCACCGCCTGGAACT	0.602000													49	102					1.6237e-14	2.63266e-14	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72517992	72517992	+	Missense_Mutation	SNP	G	G	T	rs141007215		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:72517992G>T	ENST00000373208.1	+	21	3138	c.3138G>T	c.(3136-3138)caG>caT	p.Q1046H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.Q1043H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1043					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						CAGAGGGGCAGTGGGTGCCAC	0.517000													10	25					2.80697e-09	3.90794e-09	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44891533	44891533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:44891533C>A	ENST00000330997.4	-	4	938	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.E292*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.E299*	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATAGGCCATTCGTGGAATTCA	0.428000													40	79					4.92203e-23	9.36849e-23	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020129	56020129	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:56020129C>A	ENST00000303059.3	+	1	454	c.454C>A	c.(454-456)Cac>Aac	p.H152N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTTATGATCACTATGTAGC	0.408000													50	101					3.94638e-17	6.78984e-17	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97862799	97862799	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:97862799A>T	ENST00000447648.2	-	11	1905	c.1606T>A	c.(1606-1608)Tgg>Agg	p.W536R	TECPR1_ENST00000379795.3_Missense_Mutation_p.W536R|TECPR1_ENST00000542604.1_Missense_Mutation_p.W466R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	536						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCGACACCCAGGCCCACAGC	0.687000													3	2					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913098	29913098	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:29913098C>T	ENST00000308748.5	+	1	1058	c.806C>T	c.(805-807)cCg>cTg	p.P269L	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CGCCGGTGCCCGGGGGCCTAT	0.687000													10	20					0	0	1	0	0
DEFB126	81623	broad.mit.edu	37	20	126168	126168	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:126168C>A	ENST00000382398.3	+	2	431	c.171C>A	c.(169-171)gaC>gaA	p.D57E	DEFB126_ENST00000542572.1_Intron	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	57					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AACAAAGGGACTGCTGTGTTC	0.418000													68	37					2.54232e-27	4.95878e-27	1	1	0
RHD	6007	broad.mit.edu	37	1	25611132	25611132	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:25611132A>T	ENST00000328664.4	+	2	372	c.217A>T	c.(217-219)Agc>Tgc	p.S73C	RHD_ENST00000454452.2_Missense_Mutation_p.S73C|RHD_ENST00000342055.5_Missense_Mutation_p.S73C|RHD_ENST00000423810.2_Missense_Mutation_p.S73C|RHD_ENST00000568195.1_Missense_Mutation_p.S73C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.S73C|RHD_ENST00000357542.4_Missense_Mutation_p.S73C	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	73						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGGAGACACAGCTGGAGCAG	0.602000													10	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870281	237870281	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:237870281T>G	ENST00000366574.2	+	68	9930	c.9613T>G	c.(9613-9615)Tgt>Ggt	p.C3205G	RYR2_ENST00000360064.6_Missense_Mutation_p.C3203G|RYR2_ENST00000542537.1_Missense_Mutation_p.C3189G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3205					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGATGTTTGTCCAAACAT	0.413000													91	69					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263184	139263184	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:139263184G>T	ENST00000395297.1	-	6	612	c.442C>A	c.(442-444)Ctg>Atg	p.L148M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	148										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGTGGTGCAGACCATTCCGG	0.597000										HNSCC(54;0.14)			88	83					5.56898e-48	1.11948e-47	1	1	0
TPTE	7179	broad.mit.edu	37	21	10944701	10944701	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr21:10944701A>T	ENST00000298232.7	-	10	846	c.479T>A	c.(478-480)tTt>tAt	p.F160Y	TPTE_ENST00000342420.5_Missense_Mutation_p.F140Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.F178Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	178					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTCAAAAAAAATGTAAAC	0.299000													24	153					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23861840	23861840	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:23861840C>A	ENST00000405093.3	-	25	3343	c.3273G>T	c.(3271-3273)caG>caT	p.Q1091H	MYH6_ENST00000356287.3_Missense_Mutation_p.Q1091H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1091					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TACTGTTCTGCTGATTAATGT	0.498000													13	149					1.5842e-08	2.17483e-08	1	1	0
KRT35	3886	broad.mit.edu	37	17	39633393	39633393	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:39633393G>A	ENST00000246639.2	-	7	1325	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	KRT35_ENST00000393989.1_Missense_Mutation_p.P428L			Q92764	KRT35_HUMAN	keratin 35	428	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGAGGCCGCAGGAAGACAGGG	0.572000													14	36					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127788362	127788362	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:127788362G>A	ENST00000243253.3	+	12	1472	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	SEC61A1_ENST00000464451.1_Missense_Mutation_p.A436T|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.A310T|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	430					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						GTGCATCGGGGCCCTCTCGGT	0.612000													24	29					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612301	20612301	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:20612301T>A	ENST00000333629.1	+	1	407	c.407T>A	c.(406-408)aTg>aAg	p.M136K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCAACCATCATGAACCCTAGA	0.488000													46	126					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925398	114925398	+	Silent	SNP	G	G	T	rs61724286		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:114925398G>T	ENST00000545257.1	+	15	2034	c.1527G>T	c.(1525-1527)tcG>tcT	p.S509S	TCF7L2_ENST00000542695.1_Silent_p.S225S|TCF7L2_ENST00000536810.1_Silent_p.S492S|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S486S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Silent_p.S509S|TCF7L2_ENST00000543371.1_Silent_p.S492S|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	509					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACTAGATTCGCCTCCCCCCT	0.587000			T	VTI1A	colorectal								32	69					1.61788e-16	2.72412e-16	1	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32893960	32893960	+	RNA	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:32893960G>T	ENST00000330048.5	-	0	1297					NR_003083.2																						CACACAGTCGGGAGTGTTCCA	0.587000													25	112					7.33532e-06	9.14594e-06	1	1	0
MGAM	8972	broad.mit.edu	37	7	141708326	141708326	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:141708326G>T	ENST00000475668.2	+	3	202	c.148G>T	c.(148-150)Ggt>Tgt	p.G50C	MGAM_ENST00000549489.2_Missense_Mutation_p.G50C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	50	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGACAACTGGTACCCCAGA	0.463000													15	11					2.62699e-14	4.24194e-14	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208215591	208215591	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:208215591T>C	ENST00000367033.3	-	22	4895	c.4138A>G	c.(4138-4140)Atg>Gtg	p.M1380V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1380					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGGTCGCGCATGGAGAAACTG	0.597000													35	37					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412317	105412317	+	Silent	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:105412317G>C	ENST00000333244.5	-	7	9590	c.9471C>G	c.(9469-9471)gcC>gcG	p.A3157A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3157						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCCTGGGGCAGACACCC	0.592000													86	209					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169141374	169141374	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:169141374G>T	ENST00000256935.8	+	19	1934	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.L110L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	618	DHR-1.				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)			TGGGCTTGCTGGGTTTGCTGA	0.463000													28	54					3.69857e-22	7.00594e-22	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48227811	48227811	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:48227811G>A	ENST00000394747.1	-	18	2836	c.2487C>T	c.(2485-2487)taC>taT	p.Y829Y	ABCC11_ENST00000356608.2_Silent_p.Y829Y|ABCC11_ENST00000353782.5_Silent_p.Y829Y|ABCC11_ENST00000394748.1_Silent_p.Y829Y|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	829	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTCCAACCAGTAGCTCAGCC	0.532000													7	14					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150657191	150657191	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:150657191G>T	ENST00000335230.3	-	10	1587	c.1176C>A	c.(1174-1176)gaC>gaA	p.D392E	SLC36A3_ENST00000377713.3_Missense_Mutation_p.D433E	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	392						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGACCAAGTCCAGGCGGG	0.532000													7	28					0.00307968	0.00331528	1	1	0
GREB1	9687	broad.mit.edu	37	2	11725913	11725913	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:11725913G>T	ENST00000381486.2	+	9	1341	c.1041G>T	c.(1039-1041)ccG>ccT	p.P347P	GREB1_ENST00000263834.5_Silent_p.P347P|GREB1_ENST00000381483.2_Silent_p.P347P|GREB1_ENST00000234142.5_Silent_p.P347P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	347						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGCGTGCCGCAGGTTGGCT	0.527000													4	40					0.000602214	0.000677921	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22165464	22165464	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:22165464A>T	ENST00000356766.6	+	14	1712	c.1564A>T	c.(1564-1566)Aat>Tat	p.N522Y	PIWIL2_ENST00000454009.2_Missense_Mutation_p.N522Y|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N522Y	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	522					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGCAAATCAATCTGAGCCC	0.403000													3	19					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73206101	73206101	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:73206101A>T	ENST00000224721.6	+	2	99	c.94A>T	c.(94-96)Acc>Tcc	p.T32S	CDH23_ENST00000299366.7_Missense_Mutation_p.T77S|CDH23_ENST00000461841.3_Missense_Mutation_p.T77S|CDH23_ENST00000398809.4_Missense_Mutation_p.T32S|CDH23_ENST00000398842.3_Missense_Mutation_p.T32S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	32					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCTTCTTCACCAACCACTT	0.577000													12	31					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101844306	101844306	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:101844306C>T	ENST00000251127.6	-	14	1807	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A576T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	576						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATAGATGGCAACCACGGGT	0.418000													11	18					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52855025	52855025	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:52855025T>A	ENST00000266041.4	-	12	1757	c.1661A>T	c.(1660-1662)cAg>cTg	p.Q554L	ITIH4_ENST00000434759.3_Missense_Mutation_p.Q466L|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q554L|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q554L|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q554L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	554					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCAGCTGCTGGATAGTCAG	0.582000											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	48					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100861498	100861498	+	Splice_Site	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:100861498G>T	ENST00000305105.2	+	1	550	c.22_splice	c.e1+1	p.V8_splice	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	8							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAAACTTCGGGTATGTGAGC	0.527000													9	11					0.000673444	0.000753798	1	1	0
NEFM	4741	broad.mit.edu	37	8	24775371	24775371	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:24775371C>A	ENST00000221166.5	+	3	2785	c.2003C>A	c.(2002-2004)cCt>cAt	p.P668H	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.P629H|NEFM_ENST00000433454.2_Missense_Mutation_p.P292H|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	668	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCAAGTCTCCTGTGTCAAAA	0.493000													25	77					1.85244e-09	2.6254e-09	1	1	0
AKAP8L	26993	broad.mit.edu	37	19	15512009	15512009	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:15512009C>T	ENST00000397410.4	-	5	832	c.768G>A	c.(766-768)atG>atA	p.M256I	AKAP8L_ENST00000595465.1_Missense_Mutation_p.M195I|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	256						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCATCTGCTTCATGCCATTGC	0.632000													46	138					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559852	48559852	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:48559852G>T	ENST00000435803.1	+	53	14037	c.14013G>T	c.(14011-14013)ttG>ttT	p.L4671F	ABCA13_ENST00000544596.1_Missense_Mutation_p.L401F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4671					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCTCCTCTTGAGGGTTCTGC	0.512000													8	22					0.00307968	0.00331528	1	1	0
CAPS2	84698	broad.mit.edu	37	12	75692561	75692561	+	Splice_Site	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:75692561C>G	ENST00000393284.3	-	11	913		c.e11-1		CAPS2_ENST00000409445.3_Splice_Site|CAPS2_ENST00000409799.1_Splice_Site|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_Splice_Site			Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CACATTTGTTCTAGAAAGTAA	0.323000													7	38					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53035933	53035933	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:53035933G>T	ENST00000378037.5	+	4	1065	c.975G>T	c.(973-975)agG>agT	p.R325S	CKAP2_ENST00000378034.3_Missense_Mutation_p.R324S|CKAP2_ENST00000490903.1_Missense_Mutation_p.R276S|CKAP2_ENST00000258607.5_Missense_Mutation_p.R324S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	325					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTATAGCCAGGCCTGCTTCAT	0.383000													14	48					2.32078e-09	3.26568e-09	1	1	0
SETD2	29072	broad.mit.edu	37	3	47058706	47058706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:47058706A>T	ENST00000409792.3	-	21	7614	c.7572T>A	c.(7570-7572)tgT>tgA	p.C2524*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2524	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAGGATTCTTACAGTACTTCA	0.458000			"""N, F, S, Mis"""		clear cell renal carcinoma								13	32					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967921	72967921	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:72967921C>A	ENST00000264839.7	+	17	2864	c.2864C>A	c.(2863-2865)tCt>tAt	p.S955Y	RIMS1_ENST00000348717.5_Missense_Mutation_p.S954Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.S955Y|RIMS1_ENST00000401910.3_Missense_Mutation_p.S428Y|RIMS1_ENST00000517827.1_Missense_Mutation_p.S414Y|RIMS1_ENST00000520567.1_Missense_Mutation_p.S954Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.S955Y|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.S429Y|RIMS1_ENST00000517960.1_Missense_Mutation_p.S954Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.S954Y|RIMS1_ENST00000425662.2_Missense_Mutation_p.S348Y|RIMS1_ENST00000521978.1_Missense_Mutation_p.S955Y			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	955					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGTTCAGTATCTCCTCATCGC	0.468000													9	2					2.17888e-05	2.68274e-05	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135583175	135583175	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:135583175T>G	ENST00000513104.1	-	7	2110	c.1828A>C	c.(1828-1830)Aac>Cac	p.N610H	TRPC7_ENST00000355180.3_Missense_Mutation_p.N549H|TRPC7_ENST00000426057.2_Missense_Mutation_p.N494H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	610					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACGCTGGGTTGTATTTGGCA	0.473000													18	32					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131071861	131071861	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:131071861T>C	ENST00000372890.4	-	8	1297	c.964A>G	c.(964-966)Acc>Gcc	p.T322A	TRUB2_ENST00000546104.1_Missense_Mutation_p.T266A	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	322					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCCCAAGGTAGAGCTCGGG	0.622000													19	31					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3680873	3680873	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:3680873C>A	ENST00000263087.4	-	2	214	c.116G>T	c.(115-117)aGc>aTc	p.S39I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	39					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGAAGGGAGCTGAGCACGAA	0.632000													15	32					1.05317e-09	1.50344e-09	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190068209	190068209	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:190068209C>A	ENST00000367462.3	-	8	1471	c.1240G>T	c.(1240-1242)Ggc>Tgc	p.G414C	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G312C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		414						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)					CCTAGGAGGCCGTTCTCATTG	0.493000													12	37					5.50884e-06	6.89042e-06	1	1	0
DAB1	1600	broad.mit.edu	37	1	57611048	57611048	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:57611048C>T	ENST00000371236.2	-	3	385	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	DAB1_ENST00000439789.2_Missense_Mutation_p.R41Q|DAB1_ENST00000371230.1_Missense_Mutation_p.R41Q|DAB1_ENST00000420954.2_Missense_Mutation_p.R41Q|DAB1_ENST00000371234.4_Missense_Mutation_p.R41Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.R41Q|DAB1_ENST00000371231.1_Missense_Mutation_p.R41Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	41	PID.				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						GGCTTTGTACCGGACCCCTTC	0.443000													6	59					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236653453	236653453	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:236653453G>C	ENST00000409538.1	+	5	1799	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.E170Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.E9Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.E170Q|AGAP1_ENST00000409457.1_Missense_Mutation_p.E170Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	170	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAACACGAGCGAGATTCCTCT	0.453000													13	31					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360528	20360528	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:20360528C>A	ENST00000396134.2	-	4	317	c.194G>T	c.(193-195)tGc>tTc	p.C65F	UMOD_ENST00000396138.4_Missense_Mutation_p.C81F|UMOD_ENST00000396142.2_Missense_Mutation_p.C32F|UMOD_ENST00000570689.1_Missense_Mutation_p.C32F|UMOD_ENST00000424589.1_Missense_Mutation_p.C65F|UMOD_ENST00000302509.4_Missense_Mutation_p.C32F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	32	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACATTCAGAGCACCATCCTGT	0.582000													8	12					0.0381472	0.0397619	1	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													3	35					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40854027	40854027	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:40854027G>T	ENST00000255224.3	-	2	735	c.367C>A	c.(367-369)Ccg>Acg	p.P123T	SYT4_ENST00000590752.1_Missense_Mutation_p.P105T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	123						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAGCTTCGGGGTTGCATTC	0.438000													21	33					3.8784e-16	6.44764e-16	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61306921	61306921	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:61306921C>T	ENST00000341074.5	-	6	674	c.559G>A	c.(559-561)Gag>Aag	p.E187K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E187K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATTTATTCTCCCACTGCCCT	0.313000													20	29					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014043	53014043	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:53014043G>T	ENST00000421239.2	+	6	653	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAGTTGATGGGTAGCACAGA	0.383000													42	99					4.67007e-22	8.76193e-22	1	1	0
SLC35A5	55032	broad.mit.edu	37	3	112300122	112300122	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:112300122G>T	ENST00000492406.1	+	6	1441	c.1158G>T	c.(1156-1158)agG>agT	p.R386S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	386						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						ACGCACCTAGGCAAGAAAGGA	0.453000													12	11					0.00244969	0.00267363	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58486870	58486870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:58486870C>A	ENST00000357552.3	-	14	1132	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.E303*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	303					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCCAAAATTCCTCAAGTTTT	0.279000													8	23					0.000157383	0.000183459	1	1	0
ADAM20	8748	broad.mit.edu	37	14	70991395	70991395	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:70991395C>A	ENST00000256389.3	-	2	474	c.230G>T	c.(229-231)gGc>gTc	p.G77V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	27					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTGAGAGTGGCCAGAAATAGA	0.532000													21	34					2.4624e-09	3.45261e-09	1	1	0
CPS1	1373	broad.mit.edu	37	2	211442195	211442195	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:211442195G>T	ENST00000233072.5	+	4	628	c.432G>T	c.(430-432)ctG>ctT	p.L144L	CPS1_ENST00000430249.2_Silent_p.L150L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	144	Anthranilate phosphoribosyltransferase homolog.				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)		ACCACTGGCTGGCTACCAAGA	0.413000													8	84					0.0381472	0.0397619	1	1	0
DYTN	391475	broad.mit.edu	37	2	207528108	207528108	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:207528108C>A	ENST00000452335.2	-	11	1268	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	384						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GACCGGGTGGCTGCAACCTTG	0.373000													13	23					1.05317e-09	1.50344e-09	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35608194	35608194	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:35608194C>A	ENST00000287272.2	+	12	1843	c.1823C>A	c.(1822-1824)gCg>gAg	p.A608E	UNC5D_ENST00000449677.1_Missense_Mutation_p.A253E|UNC5D_ENST00000404895.2_Missense_Mutation_p.A677E|UNC5D_ENST00000416672.1_Missense_Mutation_p.A682E|UNC5D_ENST00000453357.2_Missense_Mutation_p.A672E|UNC5D_ENST00000420357.1_Missense_Mutation_p.A610E			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	677	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.A672V(1)		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)		GGGACCTATGCGCTCACTGGA	0.502000													53	55					2.74695e-27	5.33152e-27	1	1	0
RAET1K	646024	broad.mit.edu	37	6	150322146	150322146	+	RNA	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:150322146T>C	ENST00000533735.1	-	0	730					NR_024045.1																						CTGTCTACTTTCTGTTGTTTG	0.483000													13	19					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109524373	109524373	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:109524373T>A	ENST00000357672.3	-	12	2671	c.2296A>T	c.(2296-2298)Aca>Tca	p.T766S	WDR47_ENST00000400794.3_Missense_Mutation_p.T802S|WDR47_ENST00000369962.3_Missense_Mutation_p.T794S|WDR47_ENST00000369965.4_Missense_Mutation_p.T795S|WDR47_ENST00000361054.3_Missense_Mutation_p.T766S			O94967	WDR47_HUMAN	WD repeat domain 47	794										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAAATGTTGTGCCAACAACA	0.368000													27	57					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50045036	50045036	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:50045036A>T	ENST00000335154.5	-	16	1945	c.1712T>A	c.(1711-1713)cTg>cAg	p.L571Q	FMNL3_ENST00000293590.5_Missense_Mutation_p.L571Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.L571Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.L520Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	571	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GAAGACAGGCAGCCGGAACTT	0.517000													18	39					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998276	100998276	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:100998276G>T	ENST00000325455.5	-	1	2979	c.1526C>A	c.(1525-1527)cCc>cAc	p.P509H	PGR_ENST00000263463.5_Missense_Mutation_p.P509H|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	509	Modulating, Pro-Rich.				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)	GTAGAgcgcgggggccgcccc	0.786000													2	2					1	1	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36330468	36330468	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:36330468T>G	ENST00000378910.5	-	21	2856	c.2857A>C	c.(2857-2859)Acc>Ccc	p.T953P	NPHS1_ENST00000353632.6_Missense_Mutation_p.T953P	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	953	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGTGGGGTCAGACTCACA	0.562000													14	42					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536113	69536113	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:69536113T>G	ENST00000338206.5	-	1	233	c.224A>C	c.(223-225)gAa>gCa	p.E75A		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	75					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGATAAACTTCTAATTTAAT	0.348000													49	88					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105832	207105832	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:207105832C>A	ENST00000356495.4	-	8	2160	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCTGGCCACCCCCACAGCCA	0.647000													48	45					9.82405e-12	1.44969e-11	1	1	0
NAV3	89795	broad.mit.edu	37	12	78571078	78571078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:78571078C>A	ENST00000397909.2	+	27	5455	c.5282C>A	c.(5281-5283)tCa>tAa	p.S1761*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.S1761*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.S1761*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.S1584*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1761						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGAAGCCCTCACAATCTGCT	0.418000										HNSCC(70;0.22)			43	44					3.54561e-26	6.7814e-26	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14068652	14068652	+	Splice_Site	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:14068652G>C	ENST00000235372.7	+	5	1240	c.384_splice	c.e5+1	p.K128_splice	PRDM2_ENST00000376048.5_Splice_Site_p.K128_splice|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Splice_Site_p.K128_splice	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	128	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAACTTTAAAGGTAACAGCAT	0.393000													7	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084642	9084642	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:9084642G>T	ENST00000397910.4	-	1	7376	c.7173C>A	c.(7171-7173)atC>atA	p.I2391I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2391	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGGGACTGATGGAGGCTG	0.458000													17	35					3.32936e-07	4.41673e-07	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679645	160679645	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:160679645G>T	ENST00000366952.1	-	3	1563	c.82C>A	c.(82-84)Cac>Aac	p.H28N	SLC22A2_ENST00000366953.3_Missense_Mutation_p.H49N|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	49					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CGGCAGCGGTGGTCAGGGGTG	0.627000													33	49					1.30293e-26	2.50418e-26	1	1	0
PDE4B	5142	broad.mit.edu	37	1	66833711	66833711	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:66833711G>A	ENST00000423207.2	+	13	2065	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	PDE4B_ENST00000329654.4_Missense_Mutation_p.G542D|PDE4B_ENST00000480109.2_Missense_Mutation_p.G309D|PDE4B_ENST00000371045.5_Missense_Mutation_p.G370D|PDE4B_ENST00000371049.3_Missense_Mutation_p.G542D	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	542					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)	ACAAGTTCAGGCGTTCTTCTC	0.388000													7	53					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77372871	77372871	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chrX:77372871C>T	ENST00000373316.4	+	5	647	c.480C>T	c.(478-480)gtC>gtT	p.V160V	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Silent_p.V132V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	160					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TAGGGGATGTCTATGTCAATG	0.438000													15	10					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183699668	183699668	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:183699668G>T	ENST00000295113.4	-	6	1495	c.886C>A	c.(886-888)Ctt>Att	p.L296I		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	296	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTGAGTCCAAGATGACGAAGC	0.433000													16	34					2.48551e-13	3.91716e-13	1	1	0
BOC	91653	broad.mit.edu	37	3	112992155	112992155	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:112992155C>A	ENST00000495514.1	+	8	1905	c.1201C>A	c.(1201-1203)Cat>Aat	p.H401N	BOC_ENST00000355385.3_Missense_Mutation_p.H401N|BOC_ENST00000273395.4_Missense_Mutation_p.H401N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	401	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGAGCGCCCATGCCGTAGT	0.612000													4	8					0.00909568	0.00968567	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25321123	25321123	+	RNA	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:25321123A>T	ENST00000549804.2	+	0	1109				SNORD116-11_ENST00000383882.1_RNA																							AGTTGAACAAAATGAGTGAAA	0.443000													13	54					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816179	90816179	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:90816179G>T	ENST00000394980.1	+	2	376	c.57G>T	c.(55-57)ggG>ggT	p.G19G	MMRN1_ENST00000394981.1_Silent_p.G19G|MMRN1_ENST00000264790.2_Silent_p.G19G			Q13201	MMRN1_HUMAN	multimerin 1	19					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGGGCATTGGGCTTAACAACA	0.423000													13	52					0.000151284	0.000179536	1	1	0
CTDP1	9150	broad.mit.edu	37	18	77455991	77455991	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:77455991A>G	ENST00000299543.7	+	3	560	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CTDP1_ENST00000075430.7_Missense_Mutation_p.N138S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	138					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAGAGTAAGAACGGGAAGCAG	0.597000													10	51					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138618038	138618038	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:138618038G>T	ENST00000251691.4	+	21	3760	c.3594G>T	c.(3592-3594)cgG>cgT	p.R1198R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1198					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCAAAGCACGGCCCCTGCTCC	0.587000													28	63					1.75199e-13	2.77222e-13	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50951015	50951015	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:50951015C>T	ENST00000374103.4	-	15	1956	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R567H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R415H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	624					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R624H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCGCAGAATGCGAGAGAGGCC	0.642000													4	19					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574156	140574156	+	Silent	SNP	C	C	A	rs147179361		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:140574156C>A	ENST00000239446.4	+	1	2215	c.2031C>A	c.(2029-2031)gcC>gcA	p.A677A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		677					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCCCCGGCCCAGG	0.687000													46	71					3.54909e-21	6.50391e-21	1	1	0
EFHD2	79180	broad.mit.edu	37	1	15755205	15755205	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:15755205G>A	ENST00000375980.4	+	4	785	c.708G>A	c.(706-708)caG>caA	p.Q236Q		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	236						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCTGCAGTCCACCTTTA	0.642000													3	8					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52384803	52384803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:52384803G>T	ENST00000356297.4	-	8	856	c.756C>A	c.(754-756)taC>taA	p.Y252*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Y252*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	252	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGCAGGTGAAGTAGACGGTAT	0.438000													38	30					4.67007e-22	8.76193e-22	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48237886	48237886	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:48237886A>T	ENST00000435803.1	+	3	240	c.216A>T	c.(214-216)caA>caT	p.Q72H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	72					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTTGTTCAAAGCCTTCTTT	0.423000													11	17					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60885736	60885736	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:60885736C>A	ENST00000347785.3	+	3	350	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	62	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGTTTGCAGCCAGAGCTGGGG	0.617000													56	85					8.28887e-21	1.50498e-20	1	1	0
GLT8D2	83468	broad.mit.edu	37	12	104390540	104390540	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:104390540C>T	ENST00000360814.4	-	8	978	c.573G>A	c.(571-573)caG>caA	p.Q191Q	GLT8D2_ENST00000548660.1_Silent_p.Q191Q|GLT8D2_ENST00000546436.1_Silent_p.Q191Q	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	191						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGTTTATGTCCTGAGCAGAGG	0.527000													14	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13913875	13913875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:13913875C>A	ENST00000265104.4	-	11	1617	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	505	Stem (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)					GCCATGTCTTCCAGCCCTTCA	0.348000									Kartagener syndrome				16	27					1.50039e-11	2.18946e-11	1	1	0
CES1P1	51716	broad.mit.edu	37	16	55806346	55806346	+	RNA	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:55806346T>C	ENST00000571348.1	+	0	648					NR_003276.2																						CTGCACTGGGTCCAGGACAAC	0.572000													4	11					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478842	10478842	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:10478842C>A	ENST00000525621.1	-	5	835	c.354G>T	c.(352-354)cgG>cgT	p.R118R	TYK2_ENST00000264818.6_Silent_p.R118R|TYK2_ENST00000529370.1_Silent_p.R118R|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	118	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCCGGTTCCCGAGGATTCA	0.587000													4	25					0.00024832	0.000286915	1	1	0
FREM2	341640	broad.mit.edu	37	13	39264162	39264162	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:39264162A>G	ENST00000280481.7	+	1	2897	c.2681A>G	c.(2680-2682)gAc>gGc	p.D894G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	894					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTTGGAGGACATAAAACAG	0.517000													15	17					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363350	133363350	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:133363350C>A	ENST00000204726.3	-	14	3393	c.2835G>T	c.(2833-2835)caG>caT	p.Q945H	GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q945H|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q945H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q945H|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q945H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	945					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCGCGACCATCTGCTCCTTAT	0.607000													33	61					8.16721e-17	1.39302e-16	1	1	0
CHST5	23563	broad.mit.edu	37	16	75563126	75563126	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:75563126G>C	ENST00000336257.3	-	3	2551	c.1157C>G	c.(1156-1158)gCg>gGg	p.A386G	CHST5_ENST00000541075.1_Missense_Mutation_p.A392G|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	386					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTGCTGGTCCGCAGAGTACAC	0.662000													12	28					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780442	11780442	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:11780442G>C	ENST00000381486.2	+	33	6012	c.5712G>C	c.(5710-5712)caG>caC	p.Q1904H	GREB1_ENST00000396123.1_Missense_Mutation_p.Q902H|GREB1_ENST00000234142.5_Missense_Mutation_p.Q1904H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1904						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATCTGTCAGGACCGGAGCT	0.612000													17	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616522	77616522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:77616522G>T	ENST00000521891.2	+	2	647	c.199G>T	c.(199-201)Gag>Tag	p.E67*	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E67*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E67*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E67*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E67K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCAGCGTTGAGAATGCAGC	0.493000										HNSCC(33;0.089)			31	106					7.26314e-15	1.18251e-14	1	1	0
LRP1	4035	broad.mit.edu	37	12	57594886	57594886	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:57594886G>T	ENST00000243077.3	+	65	10761	c.10295G>T	c.(10294-10296)cGc>cTc	p.R3432L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3432	LDL-receptor class A 23.				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)	GGCATCTTCCGCTGCAATGGG	0.602000													50	73					8.72198e-27	1.68454e-26	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89391084	89391084	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:89391084C>A	ENST00000336596.2	+	5	1375	c.1150C>A	c.(1150-1152)Cct>Act	p.P384T	EPHA3_ENST00000494014.1_Missense_Mutation_p.P384T|EPHA3_ENST00000452448.2_Missense_Mutation_p.P384T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	384	Fibronectin type-III 1.					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)		CCGCTTCCTCCCTCGACAGTT	0.473000										TSP Lung(6;0.00050)			19	46					2.5808e-16	4.30862e-16	1	1	0
HMCES	56941	broad.mit.edu	37	3	128998583	128998583	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:128998583G>C	ENST00000383463.4	+	2	97	c.8G>C	c.(7-9)gGg>gCg	p.G3A	C3orf37_ENST00000502878.2_Missense_Mutation_p.G3A|C3orf37_ENST00000417226.2_Missense_Mutation_p.G3A|C3orf37_ENST00000389735.3_Missense_Mutation_p.G3A	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		3										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						AGAATGTGTGGGCGAACATCC	0.522000													9	7					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201533429	201533429	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:201533429A>G	ENST00000374700.2	+	33	3942	c.3701A>G	c.(3700-3702)gAc>gGc	p.D1234G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1234					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGTGGTCCAGACCAATATAAA	0.428000													20	51					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76254869	76254869	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:76254869G>T	ENST00000319942.3	+	3	208	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.R46I|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	46					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GAGTATTTGAGAATGAGTGGC	0.343000													27	48					4.87955e-14	7.84712e-14	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720132	140720132	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:140720132G>T	ENST00000394576.2	+	1	1594	c.1594G>T	c.(1594-1596)Gtg>Ttg	p.V532L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGTGTGGGTGATAGCGCG	0.532000													37	79					6.70999e-13	1.04084e-12	1	1	0
HARS2	23438	broad.mit.edu	37	5	140076770	140076770	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:140076770G>T	ENST00000230771.3	+	10	1199	c.976G>T	c.(976-978)Gct>Tct	p.A326S	HARS2_ENST00000435019.2_Missense_Mutation_p.A286S|HARS2_ENST00000448069.2_Missense_Mutation_p.A154S|HARS2_ENST00000437649.2_Missense_Mutation_p.A252S|HARS2_ENST00000508522.1_Missense_Mutation_p.A301S|HARS2_ENST00000432671.2_Missense_Mutation_p.A212S	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	326					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGCCTGGCTCGGGGCCT	0.567000													31	57					1.55811e-20	2.81603e-20	1	1	0
MOGS	7841	broad.mit.edu	37	2	74688979	74688979	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:74688979G>A	ENST00000233616.4	-	4	2099	c.1937C>T	c.(1936-1938)gCc>gTc	p.A646V	MOGS_ENST00000452063.2_Missense_Mutation_p.A540V|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	646					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TAGCTCTGGGGCCCAGTGCAG	0.642000													18	30					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887224	25887224	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:25887224A>T	ENST00000376351.3	+	11	3028	c.2669A>T	c.(2668-2670)aAa>aTa	p.K890I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	890						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCAGAGAAGAAAACTGGGCAC	0.502000													45	64					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209876	57209876	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:57209876C>G	ENST00000343433.6	-	10	1531	c.1451G>C	c.(1450-1452)aGt>aCt	p.S484T	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	484										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CGAGATGGAACTTGTCTTAGA	0.423000													6	76					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076823	226076823	+	Translation_Start_Site	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:226076823G>T	ENST00000272134.5	-	0	23				LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1						cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GAAGGCTGCAGGAGGGTCTCA	0.647000													2	2					1	1	1	1	0
MSH4	4438	broad.mit.edu	37	1	76349313	76349313	+	Silent	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:76349313A>T	ENST00000263187.3	+	15	2018	c.1914A>T	c.(1912-1914)ccA>ccT	p.P638P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	638					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGTTCGACCAGAATTTACTG	0.294000								Mismatch excision repair (MMR)					19	24					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79031718	79031718	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:79031718G>T	ENST00000321300.6	+	3	261	c.168G>T	c.(166-168)ctG>ctT	p.L56L	BAIAP2_ENST00000575712.1_Silent_p.L56L|BAIAP2_ENST00000435091.3_Silent_p.L56L|BAIAP2_ENST00000428708.2_Silent_p.L56L|BAIAP2_ENST00000321280.7_Silent_p.L56L|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Silent_p.L89L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	56	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTGACGCCCTGGTGAAGATGG	0.607000													7	18					0.0381472	0.0397619	1	1	0
GAB4	128954	broad.mit.edu	37	22	17447110	17447110	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:17447110G>T	ENST00000400588.1	-	6	1275	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	390										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGCGAACAAGACATGAGCCC	0.607000													20	30					2.39187e-15	3.91036e-15	1	1	0
AMPD1	270	broad.mit.edu	37	1	115220125	115220125	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:115220125G>A	ENST00000369538.3	-	9	1369	c.1322C>T	c.(1321-1323)gCg>gTg	p.A441V	AMPD1_ENST00000353928.6_Missense_Mutation_p.A412V|AMPD1_ENST00000520113.2_Missense_Mutation_p.A445V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	412					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)	CACCAGGTCCGCACCTACCTC	0.567000													3	26					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:105419147G>C	ENST00000333244.5	-	7	2760	c.2641C>G	c.(2641-2643)Ctc>Gtc	p.L881V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus		p.L881I(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAATGCTGAGGTCAGTGGCC	0.652000													12	259					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981969	70981969	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:70981969G>T	ENST00000276594.2	-	2	328	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ACGGTGGCCAGGCTGTTTCTG	0.662000													5	8					0.00116845	0.00128594	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75434969	75434969	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:75434969G>T	ENST00000341669.3	-	5	2341	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	KCNC2_ENST00000298972.1_3'UTR|KCNC2_ENST00000350228.2_3'UTR|KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.H600N|KCNC2_ENST00000548513.1_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA	NM_001260498.1	NP_001247427.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATAATCCATGATAAATTCTG	0.383000													9	19					7.48243e-07	9.79428e-07	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32270326	32270326	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:32270326G>A	ENST00000400246.1	+	36	3773	c.3631G>A	c.(3631-3633)Gta>Ata	p.V1211I	DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1180I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V1133I|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1211I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1189I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V1202I|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V28I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1111I|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V1180I			O75140	DEPD5_HUMAN	DEP domain containing 5	1180	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGCGGAGGTGGTACACTGGTT	0.592000													4	6					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774792	175774792	+	Silent	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:175774792G>C	ENST00000298569.4	-	9	1262	c.729C>G	c.(727-729)gcC>gcG	p.A243A	KIAA1191_ENST00000510164.1_Silent_p.A243A|KIAA1191_ENST00000393725.2_Silent_p.A224A|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	243							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CTCCTCGGTAGGCCTGGGTGG	0.507000													22	69					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385297	58385297	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:58385297A>T	ENST00000435989.2	-	3	1695	c.1461T>A	c.(1459-1461)agT>agA	p.S487R	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	487					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTCTTTCTCCACTGTGAACTC	0.468000													9	28					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33318469	33318469	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr21:33318469C>T	ENST00000270112.2	+	4	1092	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	244	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCCCAAAATCGATGTCTGGT	0.527000													5	28					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034720	52034720	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:52034720C>A	ENST00000346477.3	-	2	189	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V41L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V41L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V41L|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V41L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	41	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCCTCCTGCACCGTCAGTGAC	0.622000													16	23					2.23348e-06	2.82049e-06	1	1	0
DENND1A	57706	broad.mit.edu	37	9	126319955	126319955	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:126319955C>A	ENST00000373624.2	-	13	1088	c.887G>T	c.(886-888)aGg>aTg	p.R296M	DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.R264M|DENND1A_ENST00000394219.3_Missense_Mutation_p.R264M|DENND1A_ENST00000373620.3_Missense_Mutation_p.R296M|DENND1A_ENST00000394215.2_Missense_Mutation_p.R266M|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	296						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTTTTCAGCCTGTTCTTCAG	0.527000													6	13					2.0095e-06	2.55401e-06	1	1	0
RFWD3	55159	broad.mit.edu	37	16	74657875	74657875	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:74657875T>A	ENST00000361070.4	-	13	2373	c.2276A>T	c.(2275-2277)tAc>tTc	p.Y759F	RFWD3_ENST00000571750.1_Missense_Mutation_p.Y759F	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	759					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGTAGCCAAGTAGCTGTTACG	0.502000													3	44					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168061	69168061	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:69168061G>T	ENST00000420581.2	-	2	1624	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	LMOD3_ENST00000475434.1_Missense_Mutation_p.P482H|LMOD3_ENST00000489031.1_Missense_Mutation_p.P482H	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	482						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAAGGAGTCAGGGTCTGTCCT	0.552000													15	22					2.31682e-05	2.83487e-05	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100550	168100550	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:168100550C>A	ENST00000409195.1	+	9	2737	c.2648C>A	c.(2647-2649)cCa>cAa	p.P883Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P883Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P661Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	708					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						GAAACACTTCCAATTGAAGCA	0.353000													32	57					3.1745e-13	4.98307e-13	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2017072	2017072	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:2017072G>T	ENST00000382722.5	-	5	980	c.618C>A	c.(616-618)agC>agA	p.S206R	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S142R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S206R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S206R|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S206R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S142R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	206						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCAGCTGCACGCTGCTGATGG	0.622000													11	24					1.58986e-06	2.03379e-06	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8809034	8809034	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:8809034G>A	ENST00000447110.1	-	4	349	c.225C>T	c.(223-225)taC>taT	p.Y75Y	PIK3R5_ENST00000581552.1_Silent_p.Y75Y|PIK3R5_ENST00000584803.1_Silent_p.Y75Y	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	75	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGAGCAGGTCGTAGGTGCCCT	0.602000													4	6					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104540	87104540	+	RNA	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:87104540G>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TTTCATCATAGATGTTCCACT	0.383000													3	15					0.115264	0.118574	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39520199	39520199	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:39520199G>T	ENST00000251646.3	-	7	1153	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	368	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGGGTTGGAGGGCAGCCTGG	0.532000													11	26					0.00010058	0.000120086	1	1	0
DDR2	4921	broad.mit.edu	37	1	162748459	162748459	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:162748459G>A	ENST00000367922.2	+	18	2811	c.2373G>A	c.(2371-2373)caG>caA	p.Q791Q	DDR2_ENST00000367921.3_Silent_p.Q791Q	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	791	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCTATTCCCAGCTGTCAGATG	0.468000													36	103					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197150200	197150200	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:197150200T>G	ENST00000367405.4	-	5	1662	c.1594A>C	c.(1594-1596)Aat>Cat	p.N532H	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGTTTCAAATTTCCAGTGTCG	0.348000													12	65					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702917	1702917	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:1702917T>A	ENST00000339235.3	-	1	414	c.316A>T	c.(316-318)Aac>Tac	p.N106Y	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	106						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CCCAGCCCGTTGTCGGTGAGG	0.637000													3	41					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967152	52967152	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:52967152C>T	ENST00000549343.1	-	1	448	c.410G>A	c.(409-411)cGc>cAc	p.R137H	KRT74_ENST00000305620.2_Missense_Mutation_p.R137H			Q7RTS7	K2C74_HUMAN	keratin 74	137	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTCCTGGGCGCGCACCTTCTG	0.602000													15	58					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490057	71490057	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:71490057C>T	ENST00000296755.7	+	5	1173	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	292						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGAGAAAATCCTGCTTCTGG	0.478000													28	43					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504379	16504379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:16504379C>A	ENST00000304523.5	-	8	1332	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Nonsense_Mutation_p.E335*|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	337							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAGTCCTCCTCGTCGTCCATG	0.537000													57	97					1.54886e-18	2.72434e-18	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13913876	13913876	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:13913876C>A	ENST00000265104.4	-	11	1616	c.1512G>T	c.(1510-1512)ctG>ctT	p.L504L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	504	Stem (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)					CCATGTCTTCCAGCCCTTCAA	0.353000									Kartagener syndrome				17	28					1.10513e-12	1.70754e-12	1	1	0
CDH23	64072	broad.mit.edu	37	10	73498310	73498310	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:73498310C>A	ENST00000224721.6	+	34	4285	c.4280C>A	c.(4279-4281)tCc>tAc	p.S1427Y		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1422	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACTTCACCTCCGACTCGGCG	0.617000													13	38					0.00244969	0.00267363	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32537281	32537281	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr21:32537281T>A	ENST00000286827.3	-	17	3460	c.2989A>T	c.(2989-2991)Aag>Tag	p.K997*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.K937*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	997					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTCTCACCTTGCTGCTGTGA	0.527000													14	19					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628988	1628988	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:1628988C>A	ENST00000399685.1	-	1	705	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	210	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		caggatgacccacagcctgag	0.617000													8	133					2.27781e-18	3.9887e-18	1	1	0
RFWD3	55159	broad.mit.edu	37	16	74657964	74657964	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:74657964C>A	ENST00000361070.4	-	13	2284	c.2187G>T	c.(2185-2187)tgG>tgT	p.W729C	RFWD3_ENST00000571750.1_Missense_Mutation_p.W729C	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	729					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGGCAGCATCCCACAGCTAAA	0.517000													4	23					0.00909568	0.00968567	1	1	0
FEZ2	9637	broad.mit.edu	37	2	36805751	36805751	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:36805751T>C	ENST00000379245.4	-	5	940	c.892A>G	c.(892-894)Atg>Gtg	p.M298V	FEZ2_ENST00000405912.3_Missense_Mutation_p.M298V|FEZ2_ENST00000305852.7_Missense_Mutation_p.M127V	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	298					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GTGCCGGGCATATGACTTCTC	0.463000													38	93					0	0	1	0	0
RP11-998D10.1	0	broad.mit.edu	37	14	21501992	21501992	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:21501992G>A	ENST00000531638.1	+	2	430	c.328G>A	c.(328-330)Gag>Aag	p.E110K	RNASE13_ENST00000382951.3_Silent_p.L152L|NDRG2_ENST00000403829.3_Intron																							TTCCCGAATAGAGACCAGCGA	0.498000													20	66					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10305081	10305081	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:10305081C>A	ENST00000403437.2	-	23	2804	c.2710G>T	c.(2710-2712)Gca>Tca	p.A904S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	904					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTCCTCTGCATCAGCCAAG	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	128					7.47603e-22	1.396e-21	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233393862	233393862	+	Silent	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:233393862C>G	ENST00000258229.8	-	5	1980	c.1746G>C	c.(1744-1746)ctG>ctC	p.L582L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	582						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATTCTAACAGGGAGACAA	0.443000													8	36					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143984	56143984	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:56143984G>C	ENST00000302270.1	+	1	885	c.885G>C	c.(883-885)aaG>aaC	p.K295N		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)					TCCAGAATAAGGAGGTGAAAG	0.373000													30	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083591	9083591	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:9083591C>A	ENST00000397910.4	-	1	8427	c.8224G>T	c.(8224-8226)Ggt>Tgt	p.G2742C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2742	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATCGAACCTTCATAGGTT	0.468000													27	49					3.73148e-12	5.69846e-12	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140187570	140187570	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:140187570C>A	ENST00000530339.1	+	1	798	c.798C>A	c.(796-798)gcC>gcA	p.A266A	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A266A|PCDHA4_ENST00000356878.4_Silent_p.A266A|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														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)			AACTTAACGCCTCAGATTTAG	0.358000													16	34					4.14922e-12	6.23966e-12	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102537299	102537299	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:102537299G>A	ENST00000321521.9	+	30	4206	c.3633G>A	c.(3631-3633)acG>acA	p.T1211T	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.T1232T|PPIP5K2_ENST00000414217.1_Silent_p.T1211T			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1232					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACAGAAACGCATGAACACA	0.308000													3	16					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089916	12089916	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:12089916G>T	ENST00000235332.4	+	7	979	c.810G>T	c.(808-810)caG>caT	p.Q270H	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.Q270H	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	270	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAGACCAGCAGGGCCCTGGGA	0.632000													10	12					1.58986e-06	2.03379e-06	1	1	0
NRG1	3084	broad.mit.edu	37	8	32621621	32621621	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:32621621G>A	ENST00000338921.4	+	13	2165	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	NRG1_ENST00000519301.1_Missense_Mutation_p.A492T|NRG1_ENST00000539990.1_Missense_Mutation_p.A385T|NRG1_ENST00000405005.2_Missense_Mutation_p.A542T|NRG1_ENST00000356819.4_Missense_Mutation_p.A547T|NRG1_ENST00000287840.5_Missense_Mutation_p.A542T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A539T|NRG1_ENST00000287845.5_Missense_Mutation_p.A513T			Q02297	NRG1_HUMAN	neuregulin 1	542					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A547T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAAGAAACTCGCCAATAGCCG	0.532000													5	37					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140139	158140139	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:158140139C>A	ENST00000313708.6	-	13	1490	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.R395I|EBF1_ENST00000380654.4_Missense_Mutation_p.R372I	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	403					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCGGCCGCTCTCTTCAGAAT	0.542000			T	HMGA2	lipoma								6	22					0.00116845	0.00128594	1	1	0
PLAU	5328	broad.mit.edu	37	10	75674567	75674567	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:75674567G>A	ENST00000446342.1	+	8	1294	c.812G>A	c.(811-813)tGt>tAt	p.C271Y	PLAU_ENST00000372762.4_Missense_Mutation_p.C252Y|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.C288Y	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	288	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GAGGGCAGGTGTGCGCAGCCA	0.562000													6	16					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114546	65114546	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:65114546G>C	ENST00000268043.4	-	4	830	c.736C>G	c.(736-738)Ccc>Gcc	p.P246A	PIF1_ENST00000333425.6_Missense_Mutation_p.P246A|PIF1_ENST00000559239.1_Missense_Mutation_p.P246A			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	246	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCTGTGGGGGGCAGTGAGCCC	0.602000													13	26					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63850781	63850781	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:63850781C>A	ENST00000279873.7	+	10	1969	c.1559C>A	c.(1558-1560)aCa>aAa	p.T520K	ARID5B_ENST00000309334.5_Missense_Mutation_p.T277K	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	520					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACAACGAAACAGACCAAGGT	0.532000													27	36					1.77063e-15	2.90679e-15	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96798909	96798909	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:96798909T>C	ENST00000359933.4	-	9	2184	c.1291A>G	c.(1291-1293)Atg>Gtg	p.M431V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	431										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCAAGGTCCATGTTTGGGGGG	0.393000													11	87					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74753460	74753460	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:74753460C>A	ENST00000356924.4	-	18	1839	c.1696G>T	c.(1696-1698)Ggc>Tgc	p.G566C	ABCD4_ENST00000298816.7_Missense_Mutation_p.G462C	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	566	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G566S(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGCTGCTGGCCGATGCGATAG	0.582000													5	37					0.000602214	0.000677921	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79030942	79030942	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:79030942G>A	ENST00000446378.2	+	2	6385	c.6354G>A	c.(6352-6354)gaG>gaA	p.E2118E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2118						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGCTGATGAGGGAAAGAAAC	0.433000													25	38					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304804	4304804	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:4304804A>T	ENST00000337872.4	+	3	1362	c.1241A>T	c.(1240-1242)aAa>aTa	p.K414I	ZBTB49_ENST00000355834.3_Missense_Mutation_p.K414I|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GAGCTTCACAAACGGTCTCAT	0.488000													25	39					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95922617	95922617	+	Silent	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:95922617T>C	ENST00000258499.3	-	3	1878	c.1590A>G	c.(1588-1590)ttA>ttG	p.L530L	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Silent_p.L530L|USP44_ENST00000393091.2_Silent_p.L530L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	530					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTTTCCTTCTAAAGCTTCAG	0.403000													18	55					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703905	33703905	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:33703905G>A	ENST00000336934.5	-	5	1025	c.909C>T	c.(907-909)tgC>tgT	p.C303C	STARD13_ENST00000399365.3_Silent_p.C185C|STARD13_ENST00000255486.4_Silent_p.C295C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	303					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)		GTATTTGGATGCACTGCATAG	0.602000													6	53					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282616	71282616	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:71282616C>A	ENST00000335793.3	-	2	418	c.24G>T	c.(22-24)gtG>gtT	p.V8V	CDC42EP4_ENST00000581014.1_Silent_p.V8V|CDC42EP4_ENST00000439510.2_Silent_p.V8V			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	8					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCGAGCTGGACACCAGTTGCT	0.657000													5	22					0.014758	0.0155472	1	1	0
SFSWAP	6433	broad.mit.edu	37	12	132198709	132198709	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:132198709G>T	ENST00000261674.4	+	2	453	c.312G>T	c.(310-312)gcG>gcT	p.A104A	SFSWAP_ENST00000541286.1_Silent_p.A104A	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	104					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAGAGGAGGCGCGAATAGAGG	0.478000													8	19					0.00307968	0.00331528	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681485	55681485	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:55681485T>A	ENST00000344514.1	-	1	573	c.574A>T	c.(574-576)Aca>Tca	p.T192S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTGTATCTGAGCGA	0.383000													30	50					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125613989	125613989	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:125613989A>G	ENST00000545511.1	+	4	5258	c.271A>G	c.(271-273)Att>Gtt	p.I91V	AACS_ENST00000316519.6_Missense_Mutation_p.Y511C|AACS_ENST00000543665.1_Missense_Mutation_p.I11V|AACS_ENST00000316543.10_Missense_Mutation_p.Y109C|AACS_ENST00000261686.6_Missense_Mutation_p.Y511C			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	183					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGGAAGGCGTATTTCTCCAAA	0.567000													6	177					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27188537	27188537	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:27188537G>T	ENST00000335625.5	+	10	1941	c.1053G>T	c.(1051-1053)tgG>tgT	p.W351C	GABRA5_ENST00000400081.3_Missense_Mutation_p.W351C|GABRA5_ENST00000355395.5_Missense_Mutation_p.W351C	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	351					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			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTGGGCCTGGGATGGCAAAA	0.507000													3	11					1	1	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57173802	57173802	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:57173802C>T	ENST00000504228.1	+	3	327	c.222C>T	c.(220-222)ttC>ttT	p.F74F	KIAA1211_ENST00000541073.1_Silent_p.F67F|KIAA1211_ENST00000264229.6_Silent_p.F74F			Q6ZU35	K1211_HUMAN	KIAA1211	74										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGATCTGTTCCTGACCAGTC	0.488000													10	38					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378923	135378923	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:135378923C>G	ENST00000354042.4	-	10	1769	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	360						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTTGGATCCTCTTCTCTGACA	0.413000													5	124					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273369	210273369	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:210273369C>G	ENST00000537238.1	+	7	1004	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	SYT14_ENST00000367019.1_Missense_Mutation_p.Q243E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.Q243E|SYT14_ENST00000367015.1_Missense_Mutation_p.Q205E|SYT14_ENST00000422431.1_Missense_Mutation_p.Q288E|SYT14_ENST00000472886.1_Missense_Mutation_p.Q243E|SYT14_ENST00000399639.2_Missense_Mutation_p.Q243E	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	243						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TATGTCAGCTCAAGGATCATC	0.328000													6	38					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529570	80529570	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:80529570G>T	ENST00000295057.3	-	2	2031	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q459K|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	459						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGTCTGAGCTGCCTGAGGCTG	0.552000										HNSCC(69;0.2)			13	32					0.0931896	0.0963693	1	1	0
LPIN3	64900	broad.mit.edu	37	20	39986084	39986084	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:39986084A>T	ENST00000373257.3	+	16	2127	c.2036A>T	c.(2035-2037)cAa>cTa	p.Q679L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	679	C-LIP.		Q -> H (in dbSNP:rs12625565).		fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CACAAAATCCAACTGTGAGTG	0.597000													8	17					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688581	26688581	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:26688581G>T	ENST00000272371.2	-	38	4884	c.4758C>A	c.(4756-4758)agC>agA	p.S1586R	OTOF_ENST00000403946.3_Missense_Mutation_p.S1586R|OTOF_ENST00000339598.3_Missense_Mutation_p.S819R|OTOF_ENST00000338581.6_Missense_Mutation_p.S819R|OTOF_ENST00000402415.3_Missense_Mutation_p.S896R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1586					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)					CGCGGTGCTTGCTGTAGAAGC	0.602000													21	37					4.26978e-12	6.37232e-12	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914516	147914516	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:147914516G>T	ENST00000361727.3	+	19	3663	c.3147G>T	c.(3145-3147)gaG>gaT	p.E1049D	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E108D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1049					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAGGAGGAGATCCGCT	0.562000										HNSCC(39;0.1)			32	103					1.08312e-15	1.79306e-15	1	1	0
SYT16	83851	broad.mit.edu	37	14	62541886	62541886	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:62541886A>T	ENST00000430451.2	+	3	967	c.770A>T	c.(769-771)gAg>gTg	p.E257V	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E257V	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	257										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGTTATTCTGAGAATCTCTCC	0.438000													12	14					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621679	61621679	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:61621679C>A	ENST00000583023.1	+	12	2422	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	KCNH6_ENST00000456941.2_Missense_Mutation_p.P715Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.P715Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.P768Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	804					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GAAATGCCCCCAAGGCACAGC	0.612000													5	16					0.014758	0.0155472	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219903262	219903262	+	Translation_Start_Site	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:219903262C>A	ENST00000410037.1	-	0	113				CCDC108_ENST00000409865.3_Missense_Mutation_p.K53N|CCDC108_ENST00000341552.5_Missense_Mutation_p.K64N|CCDC108_ENST00000324264.6_De_novo_Start_OutOfFrame|CCDC108_ENST00000295729.2_De_novo_Start_OutOfFrame|CCDC108_ENST00000453220.1_Missense_Mutation_p.K64N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K64N	NM_001278296.1	NP_001265225.1	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCATGTCCTTGGGACACA	0.582000													4	19					0.00024832	0.000286915	1	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80199487	80199487	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:80199487C>A	ENST00000450142.2	-	14	2151	c.1885G>T	c.(1885-1887)Gca>Tca	p.A629S	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.A629S|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.A542S|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.A573S|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.A629S	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	629	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATGGTCACTGCCGTAGGAACA	0.458000													14	7					2.31682e-05	2.83487e-05	1	1	0
VWC2L	402117	broad.mit.edu	37	2	215440498	215440498	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:215440498C>A	ENST00000312504.5	+	4	1425	c.623C>A	c.(622-624)cCt>cAt	p.P208H	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	208						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGGTGGAAGCCTGCTCAGTGT	0.473000													40	75					5.43694e-19	9.693e-19	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96166192	96166192	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:96166192G>T	ENST00000453304.1	-	6	1227	c.879C>A	c.(877-879)ctC>ctA	p.L293L	UNC5C_ENST00000506749.1_Silent_p.L293L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	293	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CACCCCCATTGAGTGGTGCCG	0.527000													32	55					1.06801e-11	1.57014e-11	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826337	13826337	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:13826337C>A	ENST00000324750.3	+	1	795	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	191					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGCCTCATCTCCATGTTCT	0.587000													167	371					2.21936e-94	4.48425e-94	1	1	0
FCAR	2204	broad.mit.edu	37	19	55396925	55396925	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:55396925C>A	ENST00000355524.3	+	3	359	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	FCAR_ENST00000391725.3_Missense_Mutation_p.L117M|FCAR_ENST00000391723.3_Missense_Mutation_p.L105M|FCAR_ENST00000391724.3_Missense_Mutation_p.L105M|FCAR_ENST00000359272.4_Missense_Mutation_p.L105M|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Missense_Mutation_p.L117M|FCAR_ENST00000469767.1_Missense_Mutation_p.L117M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.L105M	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	117					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CACCCTGGAGCTGGTAGTGAC	0.433000													11	25					0.38729	0.393279	1	1	0
KRT39	390792	broad.mit.edu	37	17	39120027	39120027	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:39120027G>T	ENST00000355612.2	-	3	595	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	187	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGACACCTCAGCTTCGTATCT	0.502000													18	32					6.49762e-13	1.01188e-12	1	1	0
PNISR	25957	broad.mit.edu	37	6	99848775	99848775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:99848775C>A	ENST00000369239.5	-	12	2263	c.2059G>T	c.(2059-2061)Gaa>Taa	p.E687*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.E687*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	687						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ttatcctgttcacgttccctt	0.338000													11	9					1.58986e-06	2.03379e-06	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418000													3	38					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31118787	31118787	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:31118787G>C	ENST00000458591.2	+	8	894	c.667G>C	c.(667-669)Gtg>Ctg	p.V223L	SCFD1_ENST00000421551.3_Missense_Mutation_p.V164L|SCFD1_ENST00000544052.2_Missense_Mutation_p.V156L|SCFD1_ENST00000396629.2_Missense_Mutation_p.V131L|SCFD1_ENST00000541123.1_Missense_Mutation_p.V38L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	223					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AATGGTAGCAGTGGTAAGTTC	0.323000													11	23					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154588	5154588	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:5154588G>T	ENST00000252321.3	+	1	1504	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	425						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCCTGGGCAAGACCTTGCAGG	0.612000													12	25					6.31663e-08	8.49403e-08	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118370085	118370085	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:118370085G>A	ENST00000534358.1	+	23	6052	c.6029G>A	c.(6028-6030)aGa>aAa	p.R2010K	KMT2A_ENST00000389506.5_Missense_Mutation_p.R2007K|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1969K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATCAGCTTGAGAAGGAAGTTT	0.403000													9	91					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31671713	31671713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:31671713G>T	ENST00000395934.2	+	9	1094	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	ELP4_ENST00000379163.5_Nonsense_Mutation_p.E364*|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Nonsense_Mutation_p.E363*			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	363					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GATCTGTGATGAATCAGATGT	0.289000													4	24					0.150653	0.153776	1	1	0
TRAV1-2	28692	broad.mit.edu	37	14	22111621	22111621	+	RNA	SNP	C	C	A	rs1063362		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:22111621C>A	ENST00000390423.2	+	0	225																											CTGGGTTCAACGGGCTGTTCT	0.493000													46	88					8.86878e-18	1.54615e-17	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904970	55904970	+	Silent	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:55904970A>T	ENST00000301529.1	-	1	224	c.225T>A	c.(223-225)acT>acA	p.T75T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGGCAATGACAGTAGAGTTGC	0.423000													14	84					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228466469	228466469	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:228466469G>T	ENST00000570156.2	+	31	8300	c.8226G>T	c.(8224-8226)gtG>gtT	p.V2742V	OBSCN_ENST00000284548.11_Silent_p.V2313V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V2313V|OBSCN_ENST00000359599.6_Silent_p.V1160V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1743	Ig-like 27.				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)				AGTGTCAGGTGTCCCGGGCCA	0.657000													8	45					0.00307968	0.00331528	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85717736	85717736	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:85717736T>A	ENST00000322366.6	-	19	3512	c.3105A>T	c.(3103-3105)agA>agT	p.R1035S	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1035S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1035						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCCATGAAGTCTGATGTCAT	0.453000													6	44					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818741	159818741	+	RNA	SNP	C	C	G	rs111620918	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:159818741C>G	ENST00000497452.1	-	0	517																											AACGAAGTCACCGAACTCTCC	0.493000													4	76					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968445	69968445	+	Missense_Mutation	SNP	C	C	T	rs112443855		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:69968445C>T	ENST00000299293.2	+	10	1747	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	FRS2_ENST00000397997.2_Missense_Mutation_p.R413W|FRS2_ENST00000550389.1_Missense_Mutation_p.R413W|FRS2_ENST00000549921.1_Missense_Mutation_p.R413W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	413					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTCAAGGCGTCGGGACTGTAC	0.398000													4	61					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010100	27010100	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:27010100A>T	ENST00000314616.6	+	15	2151	c.1868A>T	c.(1867-1869)aAa>aTa	p.K623I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K623I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	623					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCACCAAGAAAGGTAGAAAG	0.512000													4	8					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072508	9072508	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:9072508G>T	ENST00000397910.4	-	3	15141	c.14938C>A	c.(14938-14940)Cct>Act	p.P4980T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4982	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCATGAGGACCTGTTTGG	0.473000													28	60					2.79863e-10	4.03905e-10	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226446722	226446722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:226446722C>T	ENST00000272907.6	+	4	1002	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197								p.R197*(1)|p.R197R(1)									CAAACCGAAGCGAAATCCGAA	0.498000													6	117					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342708	117342708	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:117342708G>T	ENST00000321322.6	-	15	3010	c.3009C>A	c.(3007-3009)acC>acA	p.T1003T	DSCAML1_ENST00000527706.1_Silent_p.T733T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	943	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTGGTTGATGGTGGGGGAGA	0.542000													16	47					4.7546e-09	6.59618e-09	1	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44221294	44221294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:44221294G>T	ENST00000371554.1	+	12	2348	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.E712*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.E712*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	712					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCCCTCTCGAGGGCGATGA	0.493000											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	37					7.87624e-14	1.25637e-13	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48315297	48315297	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:48315297G>T	ENST00000435803.1	+	17	6058	c.6034G>T	c.(6034-6036)Gac>Tac	p.D2012Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2012					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTTCTGAAGACTGGAGCCT	0.333000													9	8					2.17888e-05	2.68274e-05	1	1	0
NUTM2F	54754	broad.mit.edu	37	9	97088111	97088111	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:97088111G>A	ENST00000335456.7	-	2	142	c.122C>T	c.(121-123)cCg>cTg	p.P41L	NUTM2F_ENST00000341207.4_Missense_Mutation_p.P41L|NUTM2F_ENST00000253262.4_Missense_Mutation_p.P41L					NUT family member 2F																		CACGAGGGGCGGCCTGTGTGC	0.692000													9	15					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113530550	113530550	+	Silent	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:113530550T>A	ENST00000505019.1	-	8	2828	c.2703A>T	c.(2701-2703)ccA>ccT	p.P901P	C4orf21_ENST00000309071.5_Silent_p.P901P	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	901										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAGACTGAAGTGGTTCACTTA	0.358000													13	31					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628987	1628987	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:1628987C>A	ENST00000399685.1	-	1	706	c.629G>T	c.(628-630)gGg>gTg	p.G210V		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	210	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gcaggatgacccacagcctga	0.617000													8	133					3.94638e-17	6.78984e-17	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2044148	2044148	+	Silent	SNP	C	C	A	rs138264536		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:2044148C>A	ENST00000262113.4	+	18	2328	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	MYOM2_ENST00000523438.1_Silent_p.L154L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	729	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCATGACCCTCGGCTGGAAGG	0.567000													36	126					1.21669e-08	1.68202e-08	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111092	55111092	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:55111092G>C	ENST00000314721.2	+	1	466	c.416G>C	c.(415-417)tGc>tCc	p.C139S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CGACTGGTTTGCATCCTTCTG	0.468000													36	74					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145844	87145844	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:87145844C>A	ENST00000265724.3	-	25	3482	c.3065G>T	c.(3064-3066)aGc>aTc	p.S1022I	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S958I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1022					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCCTTCCGTGCTGTAGCTGTC	0.403000													32	27					9.04072e-19	1.60452e-18	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620458	7620458	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:7620458G>T	ENST00000486284.1	+	8	2139	c.1865G>T	c.(1864-1866)cGg>cTg	p.R622L	GRM7_ENST00000402647.2_Missense_Mutation_p.R622L|GRM7_ENST00000357716.4_Missense_Mutation_p.R622L|GRM7_ENST00000403881.1_Missense_Mutation_p.R622L|GRM7_ENST00000389336.4_Missense_Mutation_p.R622L|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	622					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.R622L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCATTGTCCGGGCATCTGGG	0.507000													40	86					1.49673e-21	2.78166e-21	1	1	0
RP11-998D10.1	0	broad.mit.edu	37	14	21501986	21501986	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:21501986C>G	ENST00000531638.1	+	2	424	c.322C>G	c.(322-324)Cga>Gga	p.R108G	RNASE13_ENST00000382951.3_Silent_p.S154S|NDRG2_ENST00000403829.3_Intron																							ATTAAATTCCCGAATAGAGAC	0.493000													19	61					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31142507	31142507	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:31142507C>G	ENST00000458591.2	+	12	1267	c.1040C>G	c.(1039-1041)tCt>tGt	p.S347C	SCFD1_ENST00000421551.3_Missense_Mutation_p.S288C|SCFD1_ENST00000544052.2_Missense_Mutation_p.S280C|SCFD1_ENST00000396629.2_Missense_Mutation_p.S255C|SCFD1_ENST00000541123.1_Missense_Mutation_p.S162C	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	347					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GAACTAGAATCTTACAGAGCA	0.353000													11	20					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546922	85546922	+	Splice_Site	SNP	A	A	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:85546922A>T	ENST00000393217.2	+	21	4601	c.4541_splice	c.e21+1	p.R1514_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTTAATAGCAGGTAAGCTAA	0.294000													25	46					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27429729	27429729	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:27429729T>G	ENST00000263980.3	-	6	2135	c.1560A>C	c.(1558-1560)gaA>gaC	p.E520D	SLC9A1_ENST00000545949.1_Missense_Mutation_p.E181D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	520	Interaction with CHP2.				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TGTGGATCTCTTCGTTGATGG	0.602000											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	34					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053382	238053382	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:238053382G>T	ENST00000366570.4	-	2	428	c.270C>A	c.(268-270)acC>acA	p.T90T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	90					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCTGCTATAGGTTGCCTCCA	0.577000													40	102					2.40579e-17	4.17569e-17	1	1	0
PTPRCAP	5790	broad.mit.edu	37	11	67203389	67203389	+	Missense_Mutation	SNP	G	G	A	rs150223900	byFrequency	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:67203389G>A	ENST00000326294.3	-	2	883	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	146					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCTCAGCCCGCACGGGGACC	0.677000													3	37					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150316689	150316689	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:150316689C>T	ENST00000324862.6	+	11	1643	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.P444L	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	493			P -> S (in RP18).		nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GTTCAAGACCCCACGAAGGTA	0.468000													7	35					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268733	57268733	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:57268733C>A	ENST00000339475.5	-	5	890	c.614G>T	c.(613-615)gGg>gTg	p.G205V	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G197V|OTX2_ENST00000408990.3_Missense_Mutation_p.G197V	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	197					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTCCATGCCCCCAAAGTAGGA	0.527000													18	24					5.01169e-05	6.07572e-05	1	1	0
MYH13	8735	broad.mit.edu	37	17	10265724	10265724	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:10265724C>T	ENST00000418404.3	-	3	464	c.301G>A	c.(301-303)Gct>Act	p.A101T	MYH13_ENST00000570743.1_Missense_Mutation_p.A101T|MYH13_ENST00000252172.4_Missense_Mutation_p.A101T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	101	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACAGAACAGCAGGTTCATGC	0.463000													60	86					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917731	3917731	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:3917731C>G	ENST00000381638.2	-	50	8348	c.8224G>C	c.(8224-8226)Gag>Cag	p.E2742Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2742							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGGCTAACTCGTCACAGCCC	0.498000													29	65					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907836	10907836	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:10907836G>A	ENST00000283141.6	+	10	1034	c.738G>A	c.(736-738)agG>agA	p.R246R	SYCP2L_ENST00000543878.1_Silent_p.R87R|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	246						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAAAATCAAGGGATGAACTTG	0.383000													24	58					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895418	45895418	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:45895418C>A	ENST00000418234.2	-	8	1613	c.1535G>T	c.(1534-1536)cGg>cTg	p.R512L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R512L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	512	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCAACACCCGTGCCACCTC	0.667000													16	15					0.000566183	0.000648477	1	1	0
IL26	55801	broad.mit.edu	37	12	68619419	68619419	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:68619419G>T	ENST00000229134.4	-	1	182	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	40					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TCAACAGCTTGGGACAATGTT	0.443000													26	108					7.07758e-08	9.48492e-08	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969207	47969207	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:47969207C>G	ENST00000236877.6	-	2	849	c.454G>C	c.(454-456)Ggc>Cgc	p.G152R	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	152					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAGTTGTGGCCGCAGACTTCG	0.617000													12	25					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649227	130649227	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:130649227C>G	ENST00000229030.4	+	1	2224	c.1740C>G	c.(1738-1740)tgC>tgG	p.C580W	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	580					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGCCCACCTGCGTGTGAACAG	0.522000													17	15					0	0	1	0	0
MED20	9477	broad.mit.edu	37	6	41884568	41884568	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:41884568C>A	ENST00000265350.4	-	2	204	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	MED20_ENST00000409312.1_Missense_Mutation_p.D42Y|MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Missense_Mutation_p.D42Y	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	42					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTCACAGTCCACACAAAAT	0.537000													17	29					4.14922e-12	6.23966e-12	1	1	0
LINC00303	284573	broad.mit.edu	37	1	204006526	204006526	+	RNA	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:204006526G>T	ENST00000367207.3	-	0	494																											GGATGCCGCTGCATCACCTTC	0.582000													33	29					1.61788e-16	2.72412e-16	1	1	0
FAM83D	81610	broad.mit.edu	37	20	37570622	37570622	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:37570622C>T	ENST00000217429.4	+	2	635	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	168					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCATGGACGTGTTCACAG	0.488000													3	40					0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78452483	78452483	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:78452483G>C	ENST00000299518.2	+	4	307	c.224G>C	c.(223-225)gGa>gCa	p.G75A	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558554.1_Missense_Mutation_p.G75A|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	75					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CAAGGACCTGGAGGAAAGTGG	0.488000													10	15					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31632607	31632607	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:31632607C>A	ENST00000389082.5	-	3	1084	c.820G>T	c.(820-822)Gca>Tca	p.A274S	DENND5B_ENST00000354285.4_Missense_Mutation_p.A296S|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000306833.6_Missense_Mutation_p.A309S|DENND5B_ENST00000536562.1_Missense_Mutation_p.A309S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	274	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCTCAAATGCCTCCCGAAGG	0.493000													6	2					0.00116845	0.00128594	1	1	0
EOMES	8320	broad.mit.edu	37	3	27760275	27760275	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:27760275G>T	ENST00000295743.4	-	4	1471	c.1268C>A	c.(1267-1269)aCc>aAc	p.T423N	EOMES_ENST00000449599.1_Missense_Mutation_p.T423N|EOMES_ENST00000537516.1_Missense_Mutation_p.T128N			O95936	EOMES_HUMAN	eomesodermin	423					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTCTGAGAAGGTAAAAGTCTG	0.448000													22	50					4.72057e-08	6.41347e-08	1	1	0
DCTN6	10671	broad.mit.edu	37	8	30032666	30032666	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:30032666G>C	ENST00000221114.3	+	3	241	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	DCTN6_ENST00000520829.1_Missense_Mutation_p.E52Q	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	52						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AGTGATTGGCGAAGGGAACCT	0.408000													6	28					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858892	105858892	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:105858892C>A	ENST00000258456.1	+	1	693	c.577C>A	c.(577-579)Cgc>Agc	p.R193S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	193						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCCCGCTGACCGCGCCTACGT	0.682000													10	20					1.58986e-06	2.03379e-06	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48447186	48447186	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:48447186C>A	ENST00000358536.4	-	37	6517	c.6248G>T	c.(6247-6249)gGg>gTg	p.G2083V	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G1900V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.G694V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G2083V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G1900V	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2083					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTCGCGCCCCGAGGTCTCC	0.612000													11	17					2.10051e-16	3.5217e-16	1	1	0
ANK1	286	broad.mit.edu	37	8	41581056	41581056	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:41581056G>T	ENST00000396942.1	-	8	890	c.807C>A	c.(805-807)acC>acA	p.T269T	ANK1_ENST00000396945.1_Silent_p.T269T|ANK1_ENST00000347528.4_Silent_p.T269T|ANK1_ENST00000379758.2_Silent_p.T269T|ANK1_ENST00000352337.4_Silent_p.T269T|ANK1_ENST00000265709.8_Silent_p.T302T|ANK1_ENST00000289734.7_Silent_p.T269T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	269	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACCCACCTTGGTCTTGGTTT	0.637000													38	34					4.0492e-12	6.15979e-12	1	1	0
KCNA6	3742	broad.mit.edu	37	12	4919562	4919562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:4919562G>T	ENST00000433855.1	+	1	1221	c.355G>T	c.(355-357)Gag>Tag	p.E119*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.E119*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	119						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATTTTCCTGGAGGAGATCCG	0.682000										HNSCC(72;0.22)			22	43					6.44725e-10	9.27087e-10	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038870	75038870	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:75038870C>A	ENST00000326665.5	-	14	2742	c.2524G>T	c.(2524-2526)Gca>Tca	p.A842S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	842	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTCTGCTGCTCCCTCTGCC	0.552000													28	68					1.42536e-11	2.0877e-11	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653336	159653336	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:159653336G>T	ENST00000297267.9	+	11	1992	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.D535Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	598						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)		GGAAGGCGTAGATAAGCCTGG	0.706000													7	14					0.00198382	0.00217723	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1574952	1574952	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:1574952C>A	ENST00000421627.2	+	4	1383	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	496					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGACACAGCCTGGACCCCGC	0.602000													9	1					0.0581538	0.0602963	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123508996	123508996	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:123508996A>G	ENST00000392770.2	-	4	1284	c.482T>C	c.(481-483)aTg>aCg	p.M161T	SCN3B_ENST00000530277.1_Missense_Mutation_p.M161T|SCN3B_ENST00000299333.3_Missense_Mutation_p.M161T	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	161					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GATGTACATCATGATTTCTGA	0.463000													14	26					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798556	167798556	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:167798556C>A	ENST00000367848.1	-	26	3920	c.3423G>T	c.(3421-3423)ctG>ctT	p.L1141L	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.L1080L|ADCY10_ENST00000367851.4_Silent_p.L1233L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1233					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCATAACTGCCAGGTGGGCAT	0.428000													11	95					0.000673444	0.000753798	1	1	0
IGHD	3495	broad.mit.edu	37	14	106307378	106307378	+	RNA	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr14:106307378C>A	ENST00000390556.2	-	0	659																											CTGTGCCGCTCCAGCAGCCCT	0.662000													3	8					6.4e-05	7.71301e-05	1	1	0
HRH2	3274	broad.mit.edu	37	5	175110631	175110631	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:175110631C>A	ENST00000231683.2	+	1	2168	c.395C>A	c.(394-396)cCa>cAa	p.P132Q	HRH2_ENST00000377291.2_Missense_Mutation_p.P132Q	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	132					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGGTCACCCCAGTTCGGGTC	0.557000													20	41					1.40151e-16	2.38015e-16	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61014165	61014165	+	Silent	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr10:61014165A>G	ENST00000373867.3	-	12	1491	c.1026T>C	c.(1024-1026)taT>taC	p.Y342Y	FAM13C_ENST00000277705.6_Silent_p.Y446Y|FAM13C_ENST00000435852.2_Silent_p.Y425Y|FAM13C_ENST00000419214.2_Silent_p.Y327Y|FAM13C_ENST00000422313.2_Silent_p.Y425Y|FAM13C_ENST00000442566.3_Silent_p.Y446Y|FAM13C_ENST00000373868.2_Silent_p.Y425Y|FAM13C_ENST00000468840.2_Silent_p.Y342Y	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	425										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTATCGGTCATAAAGCGGCT	0.348000													4	98					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179481856	179481856	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:179481856G>T	ENST00000263966.3	+	18	2630	c.2159G>T	c.(2158-2160)gGt>gTt	p.G720V	USP13_ENST00000496897.1_Missense_Mutation_p.G655V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	720					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCTGTTTTTGGTGCTTCTGGA	0.493000													17	23					3.32936e-07	4.41673e-07	1	1	0
GLP1R	2740	broad.mit.edu	37	6	39041447	39041447	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:39041447A>C	ENST00000373256.4	+	7	768	c.725A>C	c.(724-726)tAc>tCc	p.Y242S		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	242					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCCAATTACTACTGGCTCTTG	0.562000													24	54					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126319954	126319954	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:126319954C>A	ENST00000373624.2	-	13	1089	c.888G>T	c.(886-888)agG>agT	p.R296S	DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.R264S|DENND1A_ENST00000394219.3_Missense_Mutation_p.R264S|DENND1A_ENST00000373620.3_Missense_Mutation_p.R296S|DENND1A_ENST00000394215.2_Missense_Mutation_p.R266S|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	296						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTTTTTCAGCCTGTTCTTCA	0.527000													6	13					2.0095e-06	2.55401e-06	1	1	0
ARID2	196528	broad.mit.edu	37	12	46298746	46298746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:46298746C>A	ENST00000334344.6	+	21	5565	c.5393C>A	c.(5392-5394)tCa>tAa	p.S1798*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1408*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1798					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAACTTATCAGTGCTAGCC	0.358000			"""N, S, F"""		hepatocellular carcinoma								6	24					0.0293803	0.0308689	1	1	0
GSPT2	23708	broad.mit.edu	37	X	51487854	51487854	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chrX:51487854G>C	ENST00000340438.4	+	1	1374	c.1132G>C	c.(1132-1134)Ggc>Cgc	p.G378R		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	378					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GAAAAAAGTAGGCTTCAGTCC	0.393000													25	12					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129357122	129357122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:129357122G>T	ENST00000393232.1	+	9	1246	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*	NRF1_ENST00000539636.1_Nonsense_Mutation_p.E216*|NRF1_ENST00000393231.3_Nonsense_Mutation_p.E377*|NRF1_ENST00000393230.2_Nonsense_Mutation_p.E377*|NRF1_ENST00000311967.2_Nonsense_Mutation_p.E377*|NRF1_ENST00000353868.4_Nonsense_Mutation_p.E311*|NRF1_ENST00000223190.4_Nonsense_Mutation_p.E377*	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	377	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCAAGCATCAGAGGCCACCCA	0.547000													6	35					5.9392e-07	7.82624e-07	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8748632	8748632	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:8748632G>A	ENST00000276282.6	-	1	2523	c.1937C>T	c.(1936-1938)gCt>gTt	p.A646V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	646	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCGGTGCTCAGCAACTGACAG	0.602000													4	44					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8084037	8084037	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:8084037C>A	ENST00000075120.7	-	4	554	c.314G>T	c.(313-315)gGc>gTc	p.G105V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	105					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CATAAAGCAGCCACCAGTGAC	0.463000													11	86					2.80697e-09	3.90794e-09	1	1	0
AZGP1P1	646282	broad.mit.edu	37	7	99578411	99578411	+	RNA	SNP	T	T	C	rs62484970	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:99578411T>C	ENST00000425474.1	+	0	27					NR_036679.1																						AAGAATGGTGTCTGTCCTGCT	0.582000													5	83					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71496008	71496008	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:71496008G>A	ENST00000296755.7	+	5	7124	c.6826G>A	c.(6826-6828)Ggc>Agc	p.G2276S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2276						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAACCAGCGGGCTTGAAAGA	0.478000													5	81					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586975	143586975	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:143586975T>A	ENST00000507359.2	+	2	1789	c.698T>A	c.(697-699)cTg>cAg	p.L233Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.L233Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	233						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTCAAGCACCTGGAAAGGGCT	0.428000													35	34					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1207120	1207120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:1207120G>T	ENST00000326873.7	+	1	1381	c.208G>T	c.(208-210)Gag>Tag	p.E70*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	70	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.E70*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGACTCGGAGACGCTGTG	0.607000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			13	10					1.49906e-05	1.85732e-05	1	1	0
RELN	5649	broad.mit.edu	37	7	103214703	103214703	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:103214703C>A	ENST00000424685.2	-	30	4506	c.4347G>T	c.(4345-4347)gaG>gaT	p.E1449D	RELN_ENST00000343529.5_Missense_Mutation_p.E1449D|RELN_ENST00000428762.1_Missense_Mutation_p.E1449D			P78509	RELN_HUMAN	reelin	1449					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATCGAACATCTCATTGTGAT	0.458000													16	9					6.31663e-08	8.49403e-08	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62932091	62932091	+	Missense_Mutation	SNP	C	C	G	rs148517822	byFrequency	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:62932091C>G	ENST00000306494.6	-	8	1300	c.1301G>C	c.(1300-1302)cGt>cCt	p.R434P	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	434					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAAAACCACACGCAGGGTCTG	0.478000													6	18					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27209126	27209126	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:27209126C>A	ENST00000380036.4	+	16	3025	c.2583C>A	c.(2581-2583)gcC>gcA	p.A861A	TEK_ENST00000406359.4_Silent_p.A818A|TEK_ENST00000519097.1_Silent_p.A713A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	861	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGAATATGCCTCCAAAGATG	0.448000													11	33					0.38729	0.393279	1	1	0
GLTSCR2	29997	broad.mit.edu	37	19	48254205	48254205	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:48254205C>T	ENST00000246802.5	+	4	477	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	147				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GAAGCTCAGGCGGAAGGAGCA	0.687000													3	8					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138278	32138278	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:32138278A>C	ENST00000395499.1	-	4	1013	c.434T>G	c.(433-435)aTc>aGc	p.I145S	AGPAT1_ENST00000395497.1_Missense_Mutation_p.I145S|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.I145S|AGPAT1_ENST00000412465.2_Missense_Mutation_p.I33S|AGPAT1_ENST00000336984.6_Missense_Mutation_p.I145S|AGPAT1_ENST00000395496.1_Missense_Mutation_p.I145S|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375107.3_Missense_Mutation_p.I145S			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	145					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GTCGATGAAGATGACTCCTGC	0.642000													19	45					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46622203	46622203	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:46622203G>T	ENST00000330070.4	-	1	1238	c.71C>A	c.(70-72)tCc>tAc	p.S24Y	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	24					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						AGCGGGGAAGGAAGTCAGACA	0.512000													14	45					0.132662	0.136117	1	1	0
ZNRF1	84937	broad.mit.edu	37	16	75127510	75127510	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:75127510C>G	ENST00000335325.4	+	2	1107	c.465C>G	c.(463-465)gaC>gaG	p.D155E	ZNRF1_ENST00000567962.1_Missense_Mutation_p.D155E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D155E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D155E	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	155						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TGGCTTCTGACGAGATGGAAA	0.498000													7	30					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084882	7084882	+	RNA	SNP	A	A	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:7084882A>G	ENST00000546220.1	+	0	676				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TACAGAGAAGATGGTGTCCAT	0.463000													27	76					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906248	144906248	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chrX:144906248G>T	ENST00000370490.1	+	1	6560	c.2305G>T	c.(2305-2307)Gca>Tca	p.A769S	SLITRK2_ENST00000428560.2_Missense_Mutation_p.A769S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A769S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A769S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A769S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	769						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCCAGCGCAGGCCTAGT	0.468000													14	73					7.93312e-07	1.03157e-06	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259791	215259791	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:215259791G>T	ENST00000444842.2	+	2	277	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	KCNK2_ENST00000391895.2_Missense_Mutation_p.V39L|KCNK2_ENST00000391894.2_Missense_Mutation_p.V28L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	43							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAAACCCACAGTGCTTGCTTC	0.507000													27	23					5.61819e-17	9.6242e-17	1	1	0
OR12D3	81797	broad.mit.edu	37	6	29342957	29342957	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:29342957G>C	ENST00000396806.3	-	1	111	c.108C>G	c.(106-108)aaC>aaG	p.N36K	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTCCAATCAAGTTTATCAGGT	0.383000													14	23					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996080	57996080	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:57996080A>C	ENST00000316770.2	-	1	310	c.268T>G	c.(268-270)Ttg>Gtg	p.L90V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGGGCCCCCAAAATGTTGGAA	0.547000													18	23					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019337	55019337	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:55019337G>A	ENST00000301202.2	+	3	424	c.302G>A	c.(301-303)tGc>tAc	p.C101Y	LAIR2_ENST00000351841.2_Missense_Mutation_p.C101Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	101	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTTTATCGCTGCCTCTATTAT	0.507000													11	84					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45944519	45944519	+	Missense_Mutation	SNP	G	G	T	rs145539977		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr22:45944519G>T	ENST00000348697.2	+	13	1615	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	FBLN1_ENST00000327858.6_Missense_Mutation_p.G490W|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G490W|FBLN1_ENST00000442170.2_Missense_Mutation_p.G490W|FBLN1_ENST00000402984.3_Missense_Mutation_p.G528W|FBLN1_ENST00000340923.5_Missense_Mutation_p.G490W			P23142	FBLN1_HUMAN	fibulin 1	490	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTGCCCACCGGGGGCCACAT	0.652000													14	15					1.49906e-05	1.85732e-05	1	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60242089	60242089	+	Silent	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr18:60242089C>G	ENST00000269499.5	+	13	3193	c.2775C>G	c.(2773-2775)gcC>gcG	p.A925A	ZCCHC2_ENST00000586834.1_Silent_p.A604A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	925					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCCTTGCTGCCGGCGTGTTAC	0.607000													26	48					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698558	103698558	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:103698558C>A	ENST00000245312.3	-	6	1568	c.972G>T	c.(970-972)gaG>gaT	p.E324D		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	324					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTCTTTGCTCTCTGGAATTT	0.353000													10	21					0.000442599	0.000508409	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25427801	25427801	+	RNA	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:25427801G>C	ENST00000424208.1	+	0	272					NR_003305.1																						CAGTTCCCTGGGTTTGAGGCA	0.582000													4	9					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31475978	31475978	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:31475978G>T	ENST00000457010.2	+	4	2335	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	ARMC5_ENST00000538189.1_Missense_Mutation_p.G577V|ARMC5_ENST00000268314.4_Missense_Mutation_p.G545V|ARMC5_ENST00000563544.1_Missense_Mutation_p.G545V|ARMC5_ENST00000412665.2_Missense_Mutation_p.G189V|ARMC5_ENST00000408912.3_Missense_Mutation_p.G640V	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	545							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						CTTGTGACCGGCCCGGCGCTG	0.706000													4	8					0.014758	0.0155472	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140187572	140187572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:140187572C>A	ENST00000530339.1	+	1	800	c.800C>A	c.(799-801)tCa>tAa	p.S267*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.S267*|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.S267*|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														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)			CTTAACGCCTCAGATTTAGAC	0.358000													16	35					4.14922e-12	6.23966e-12	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507071	74507071	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:74507071C>A	ENST00000354431.4	-	7	1735	c.1544G>T	c.(1543-1545)cGt>cTt	p.R515L	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		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						AACTAATAAACGCTCTGAAGC	0.363000													24	64					2.27525e-19	4.09338e-19	1	1	0
MEDAG	84935	broad.mit.edu	37	13	31480828	31480828	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr13:31480828G>T	ENST00000380482.4	+	1	501	c.176G>T	c.(175-177)aGg>aTg	p.R59M	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		GTGGTGGCCAggcccggggag	0.726000													3	4					1	1	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158548862	158548862	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:158548862C>A	ENST00000368150.1	-	1	827	c.828G>T	c.(826-828)ttG>ttT	p.L276F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTTCTGGCTTCAAATAAACAA	0.493000													24	176					2.21704e-12	3.39888e-12	1	1	0
ANO3	63982	broad.mit.edu	37	11	26463640	26463640	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:26463640C>A	ENST00000256737.3	+	2	1074	c.222C>A	c.(220-222)tcC>tcA	p.S74S	ANO3_ENST00000537978.1_Silent_p.S58S|ANO3_ENST00000525139.1_Silent_p.S58S|ANO3_ENST00000531646.1_Silent_p.S74S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	74						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCTTAATCTCCACTGACAAAG	0.428000													30	71					1.30897e-18	2.31271e-18	1	1	0
PAX8	7849	broad.mit.edu	37	2	114004356	114004356	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:114004356C>A	ENST00000429538.3	-	3	360	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.G56C|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.G56C|PAX8_ENST00000348715.5_Missense_Mutation_p.G56C|PAX8_ENST00000263334.5_Missense_Mutation_p.G56C|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	56	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CTGACGCAGCCATGGCTGACG	0.632000			T	PPARG	follicular thyroid		Thyroid dysgenesis						7	55					0.000157383	0.000183459	1	1	0
FANCA	2175	broad.mit.edu	37	16	89849313	89849313	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:89849313T>A	ENST00000389301.3	-	17	1610	c.1580A>T	c.(1579-1581)aAc>aTc	p.N527I	FANCA_ENST00000568369.1_Missense_Mutation_p.N527I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	527					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGTCCCATGTTTTCTATAGA	0.502000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	20					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487830	24487830	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:24487830G>C	ENST00000264463.4	-	12	2816	c.2309C>G	c.(2308-2310)cCt>cGt	p.P770R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTAAACCGAGGGCCCCATTC	0.408000										HNSCC(23;0.051)			41	100					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19653687	19653687	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:19653687G>T	ENST00000586018.1	+	6	1003	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	CILP2_ENST00000291495.4_Missense_Mutation_p.V295L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	295	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCGTACCTGGTGAAACACCC	0.567000													14	106					7.93312e-07	1.03157e-06	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1626441	1626441	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:1626441G>A	ENST00000421627.2	+	9	2244	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	783					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTGGAGCTGGAGGGGTTCCC	0.602000													25	30					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183027507	183027507	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:183027507G>T	ENST00000328913.3	-	10	1407	c.1110C>A	c.(1108-1110)agC>agA	p.S370R	MCF2L2_ENST00000473233.1_Missense_Mutation_p.S370R|MCF2L2_ENST00000414362.2_Missense_Mutation_p.S370R|MCF2L2_ENST00000447025.2_Missense_Mutation_p.S370R	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCAAACCTGGCTTTTTTCCT	0.443000													47	67					4.64027e-19	8.31029e-19	1	1	0
ESPNL	339768	broad.mit.edu	37	2	239039151	239039151	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:239039151T>A	ENST00000343063.3	+	9	2059	c.1796T>A	c.(1795-1797)cTg>cAg	p.L599Q	ESPNL_ENST00000409169.1_Missense_Mutation_p.L555Q|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.L231Q	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	599										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATCTCCCGCCTGGTACGCAGC	0.697000													4	3					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36846874	36846874	+	Missense_Mutation	SNP	G	G	A	rs148662730		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:36846874G>A	ENST00000523241.1	-	7	842	c.833C>T	c.(832-834)aCg>aTg	p.T278M	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Silent_p.N321N|PAX5_ENST00000414447.1_Silent_p.N312N|PAX5_ENST00000358127.4_Silent_p.N355N|PAX5_ENST00000522003.1_Silent_p.N247N|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000446742.1_Silent_p.N255N			Q02548	PAX5_HUMAN	paired box 5	287					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TCCAGGAGTCGTTGTACGAGG	0.597000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								4	23					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20330959	20330959	+	Silent	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr16:20330959G>T	ENST00000302555.5	-	6	1139	c.990C>A	c.(988-990)gcC>gcA	p.A330A	GP2_ENST00000381360.5_Silent_p.A186A|GP2_ENST00000381362.4_Silent_p.A333A|GP2_ENST00000341642.5_Silent_p.A183A|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	333	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGGCTGCAAGGCAGCTTGGA	0.483000													22	60					7.33628e-21	1.33819e-20	1	1	0
PTGER3	5733	broad.mit.edu	37	1	71512735	71512735	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:71512735C>A	ENST00000370924.4	-	1	756	c.526G>T	c.(526-528)Gct>Tct	p.A176S	PTGER3_ENST00000370932.2_Missense_Mutation_p.A176S|PTGER3_ENST00000354608.5_Missense_Mutation_p.A176S|PTGER3_ENST00000414819.1_Missense_Mutation_p.A176S|PTGER3_ENST00000370931.3_Missense_Mutation_p.A176S|PTGER3_ENST00000460330.1_Missense_Mutation_p.A176S|PTGER3_ENST00000351052.5_Missense_Mutation_p.A176S|PTGER3_ENST00000306666.5_Missense_Mutation_p.A176S|PTGER3_ENST00000356595.4_Missense_Mutation_p.A176S	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	176					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.A176S(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AGCAGCACAGCGCGGGTGGCA	0.706000													3	42					1	1	1	1	0
TUBA3D	113457	broad.mit.edu	37	2	132237755	132237755	+	Silent	SNP	G	G	A	rs148201116	byFrequency	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:132237755G>A	ENST00000321253.6	+	4	596	c.489G>A	c.(487-489)aaG>aaA	p.K163K	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	163					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ATTACGGCAAGAAGTCCAAGC	0.597000													40	74					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87691037	87691037	+	Silent	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr4:87691037G>A	ENST00000436978.1	+	29	5100	c.4620G>A	c.(4618-4620)aaG>aaA	p.K1540K	PTPN13_ENST00000427191.2_Silent_p.K1516K|PTPN13_ENST00000511467.1_Silent_p.K1540K|PTPN13_ENST00000316707.6_Silent_p.K1344K|PTPN13_ENST00000411767.2_Silent_p.K1535K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1535	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGGTTAAAAAGCTCTTTCCTG	0.378000													30	54					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795655	17795655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr9:17795655G>T	ENST00000380607.4	+	9	1093	c.973G>T	c.(973-975)Gag>Tag	p.E325*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.E278*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	325	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCAAATTGATGAGAACTGGTA	0.483000													4	19					0.00116845	0.00128594	1	1	0
FGF10	2255	broad.mit.edu	37	5	44388708	44388708	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:44388708A>C	ENST00000264664.4	-	1	191	c.77T>G	c.(76-78)tTg>tGg	p.L26W		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	26					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CAAGAACAGCAACAAAAAGCA	0.547000													24	29					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818948	159818948	+	RNA	SNP	A	A	T	rs111939206	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:159818948A>T	ENST00000497452.1	-	0	517																											GCAGAAAAAGACCTCCAGTGT	0.488000													5	85					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103859	53103859	+	Silent	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:53103859C>A	ENST00000408890.4	+	1	511	c.495C>A	c.(493-495)gcC>gcA	p.A165A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	165								p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						gccgccccgccgcccAGGAGC	0.726000													3	36					0.004672	0.00501572	1	1	0
PRPH2	5961	broad.mit.edu	37	6	42689566	42689566	+	Silent	SNP	G	G	A	rs143096101		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:42689566G>A	ENST00000230381.5	-	1	746	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	169			Missing (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane		p.N169N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCCGAAAACCGTTGTTGCCGC	0.512000													30	85					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096161	144096161	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:144096161C>A	ENST00000467773.1	-	8	1350	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	NOBOX_ENST00000483238.1_Missense_Mutation_p.A419S|NOBOX_ENST00000223140.5_Missense_Mutation_p.A334S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGAAGATCGGCCCTTCGCACA	0.637000													15	11					1.3612e-06	1.76419e-06	1	1	0
BEST1	7439	broad.mit.edu	37	11	61729910	61729910	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:61729910C>A	ENST00000449131.2	+	9	1190	c.1104C>A	c.(1102-1104)aaC>aaA	p.N368K	BEST1_ENST00000301774.9_Missense_Mutation_p.N56K|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.N341K|BEST1_ENST00000378043.4_Missense_Mutation_p.N428K|BEST1_ENST00000534553.1_3'UTR	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	428					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGCCCAAAAACCACAAGGCAG	0.567000													11	31					0.000978159	0.00109177	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4504784	4504784	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr19:4504784C>T	ENST00000301286.3	-	6	3760	c.3761G>A	c.(3760-3762)gGg>gAg	p.G1254E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1254						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGACAGAACCCCGGCATCCCG	0.701000													4	6					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491393	103491393	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:103491393C>G	ENST00000358392.2	-	6	1213	c.896G>C	c.(895-897)aGt>aCt	p.S299T	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				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)		TGCTTGATAACTTTTCTTCTT	0.363000													24	77					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758353	111758353	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:111758353C>A	ENST00000261726.6	+	17	2694	c.2540C>A	c.(2539-2541)cCc>cAc	p.P847H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	847						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACGAACCCCCCAGGACGGGC	0.781000													3	13					0.115264	0.118574	1	1	0
GLI3	2737	broad.mit.edu	37	7	42079730	42079730	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:42079730G>A	ENST00000395925.3	-	7	1019	c.935C>T	c.(934-936)aCg>aTg	p.T312M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	312					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTTGGGAGACGTCCTTATCAT	0.502000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				23	39					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	977185	977185	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:977185G>T	ENST00000448903.2	+	5	705	c.564G>T	c.(562-564)tgG>tgT	p.W188C	AP2A2_ENST00000332231.5_Missense_Mutation_p.W188C|AP2A2_ENST00000534328.1_Missense_Mutation_p.W188C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	188					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGGCGACTGGACATCCCGAG	0.602000													7	13					8.12818e-05	9.76373e-05	1	1	0
RSG1	79363	broad.mit.edu	37	1	16560261	16560261	+	Splice_Site	SNP	T	T	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:16560261T>A	ENST00000375599.3	-	2	532		c.e2-2			NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1						cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CAAGCAGCCCTAGGGCAAAGA	0.572000													17	30					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681040	106681040	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:106681040C>A	ENST00000526355.1	-	5	1839	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E457D|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E478D	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	457					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCTTTGCCTGCTCACCAACCA	0.473000													17	40					2.23348e-06	2.82049e-06	1	1	0
HERC1	8925	broad.mit.edu	37	15	64067692	64067692	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr15:64067692T>C	ENST00000443617.2	-	2	218	c.131A>G	c.(130-132)aAt>aGt	p.N44S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	44					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACTTCCTTATTGCTAACCAG	0.438000													24	42					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80199488	80199488	+	Silent	SNP	C	C	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:80199488C>T	ENST00000450142.2	-	14	2150	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Silent_p.T628T|PPP1R12A_ENST00000546369.1_Silent_p.T541T|PPP1R12A_ENST00000550107.1_Silent_p.T572T|PPP1R12A_ENST00000261207.5_Silent_p.T628T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	628	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TGGTCACTGCCGTAGGAACAC	0.458000													14	7					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090663	238090663	+	RNA	SNP	G	G	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:238090663G>T	ENST00000450451.1	+	0	2169					NR_027247.2																						ATGCCGTCCTGCATCTGGACC	0.627000													6	22					3.59834e-05	4.3893e-05	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75039055	75039055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:75039055delG	ENST00000326665.5	-	14	2557	c.2339delC	c.(2338-2340)ggfs	p.A780fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	780	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTGGGGCGCTTCATCTTC	0.507													30	43	---	---	---	---					
LPHN2	23266	broad.mit.edu	37	1	82407717	82407718	+	Splice_Site	INS	-	-	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:82407717_82407718insT	ENST00000370721.1	+	8	1042_1043		c.e8-1		LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000359929.3_Intron			O95490	LPHN2_HUMAN	latrophilin 2						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAAATAGAAGTGGAGCAAAAA	0.376													14	13	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201984388	201984389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr1:201984388_201984389insT	ENST00000359651.3	+	8	4245_4246	c.1053_1054insT	c.(1051-1056)gtacaafs	p.Q352fs	ELF3_ENST00000367284.5_Frame_Shift_Ins_p.Q352fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.Q352fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	352					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCGACTCGTCTACAAGTTTGG	0.554													12	66	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:100218011_100218013delGCT	ENST00000317233.4	-	13	1490_1492	c.1255_1257delAGC	c.(1255-1257)del	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													2	4	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162362170	162362170	+	RNA	DEL	A	A	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr2:162362170delA	ENST00000605990.1	+	0	344																											CCAGAATGAGAGAACCAAAGA	0.443													45	102	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
NUP155	9631	broad.mit.edu	37	5	37364072	37364073	+	In_Frame_Ins	INS	-	-	ATT			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr5:37364072_37364073insATT	ENST00000231498.3	-	3	512_513	c.309_310insAAT	c.(307-312)aagcat>aaAATgcat	p.103_104KH>KMH	NUP155_ENST00000513532.1_In_Frame_Ins_p.103_104KH>KMH|NUP155_ENST00000381843.2_In_Frame_Ins_p.44_45KH>KMH	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	103					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCATCATGCAATTACACTGCA	0.391													23	52	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													2	4	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155123132	155123144	+	Frame_Shift_Del	DEL	ATACAACAACAGA	ATACAACAACAGA	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr6:155123132_155123144delATACAACAACAGA	ENST00000367178.3	+	7	1210_1222	c.634_646delATACAACAACAGA	c.(634-648)agfs	p.IQQQK212fs	SCAF8_ENST00000417268.1_Frame_Shift_Del_p.IQQQK212fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.IQQQK278fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	212	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AACCTTACAGATACAACAACAGAAGCCCCAGCC	0.427													7	78	---	---	---	---					
TRGV3	6976	broad.mit.edu	37	7	38398251	38398251	+	RNA	DEL	G	G	-	rs72496142	by1000genomes	TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:38398251delG	ENST00000390346.2	-	0	398																											CATCCCTTGCGGTGGAGACGT	0.468													43	114	---	---	---	---					
TRBV5-4	28611	broad.mit.edu	37	7	142168636	142168637	+	RNA	DEL	GT	GT	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr7:142168636_142168637delGT	ENST00000454561.2	-	0	286_287																											TTTTGATCAGGTGTGTGGGACT	0.569													46	44	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													3	5	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46775007	46775009	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr11:46775007_46775009delCCA	ENST00000529230.1	-	37	4954_4956	c.4908_4910delTGG	c.(4906-4911)aca>ac	p.TG1636del	CKAP5_ENST00000312055.5_In_Frame_Del_p.TG1576del|CKAP5_ENST00000354558.3_In_Frame_Del_p.TG1576del|CKAP5_ENST00000415402.1_In_Frame_Del_p.TG1636del			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1636					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTTAGTACTCCAGTGGAGGCCT	0.468													7	63	---	---	---	---					
NELL2	4753	broad.mit.edu	37	12	45169810	45169810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr12:45169810delA	ENST00000429094.2	-	8	1390	c.886delT	c.(886-888)gcfs	p.C296fs	NELL2_ENST00000452445.2_Frame_Shift_Del_p.C296fs|NELL2_ENST00000333837.4_Frame_Shift_Del_p.C319fs|NELL2_ENST00000437801.2_Frame_Shift_Del_p.C346fs|NELL2_ENST00000551601.1_Frame_Shift_Del_p.C295fs|NELL2_ENST00000395487.2_Frame_Shift_Del_p.C295fs|NELL2_ENST00000549027.1_Frame_Shift_Del_p.C295fs	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	296	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATACCAGGCATGTGCAGTTC	0.403													9	27	---	---	---	---					
OR3A1	4994	broad.mit.edu	37	17	3195416	3195416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr17:3195416delC	ENST00000323404.1	-	1	460	c.461delG	c.(460-462)ttfs	p.C154fs	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGTGAAAGCACAAGCCCAGGA	0.577													30	81	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43036056	43036056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46P-01A-11D-A24D-08	TCGA-62-A46P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c196c6-2b54-490d-8150-4f32cd346fbe	ba75470b-9a3f-4ba6-b63c-4e5cec5804fc	g.chr20:43036056delG	ENST00000316099.3	+	3	415	c.326delG	c.(325-327)agfs	p.R109fs	HNF4A_ENST00000457232.1_Frame_Shift_Del_p.R87fs|HNF4A_ENST00000415691.1_Frame_Shift_Del_p.R109fs|HNF4A_ENST00000443598.2_Frame_Shift_Del_p.R109fs	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	109					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGACAAGAGGAACCAGTGC	0.587													2	4	---	---	---	---					
