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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													6	9					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714137	183714137	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:183714137T>G	ENST00000511685.1	+	26	6435	c.6312T>G	c.(6310-6312)atT>atG	p.I2104M	TENM3_ENST00000406950.2_Missense_Mutation_p.I2104M					teneurin transmembrane protein 3																		GGATTACAATTCAGTATGATA	0.413000													16	32					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89855956	89855956	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:89855956C>T	ENST00000275072.4	+	1	188	c.93C>T	c.(91-93)atC>atT	p.I31I		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	31							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CGGAGTGCATCGACGAGGCGG	0.726000													9	11					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68267928	68267928	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:68267928C>T	ENST00000473183.2	-	3	948	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	ESRP2_ENST00000565858.1_Missense_Mutation_p.R137Q			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	137					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CAGGACCTGTCGCAATAGCTG	0.612000													15	25					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616457	73616457	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:73616457C>G	ENST00000261917.3	-	7	3109	c.2116G>C	c.(2116-2118)Gtg>Ctg	p.V706L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	706					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCCAGCGCCACGGTCTCGAAG	0.657000													5	113					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7273969	7273969	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:7273969C>A	ENST00000436587.2	+	2	242	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	C1GALT1_ENST00000223122.3_Missense_Mutation_p.L7M|C1GALT1_ENST00000402468.3_Missense_Mutation_p.L7M	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	7					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAAATCCTGGCTGAATTTTTT	0.353000													4	34					0.000602214	0.000611394	1	1	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	37					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102904	3102904	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:3102904G>A	ENST00000378398.3	+	2	335	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PRDM16_ENST00000442529.2_Missense_Mutation_p.E85K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E85K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E85K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E85K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E85K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E85K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	85	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCAGACTTCGAGCTCCGAGA	0.667000			T	EVI1	"""MDS, AML"""								4	140					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675859	21675859	+	Silent	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:21675859G>T	ENST00000379499.2	-	1	589	c.48C>A	c.(46-48)ctC>ctA	p.L16L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	16										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGTAGCCGGTGAGCAGCGCGC	0.662000													29	5					7.68411e-24	8.55789e-24	1	1	0
SOX6	55553	broad.mit.edu	37	11	16071351	16071351	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:16071351C>A	ENST00000352083.6	-	11	1462	c.1385G>T	c.(1384-1386)aGc>aTc	p.S462I	SOX6_ENST00000316399.6_Missense_Mutation_p.S462I|SOX6_ENST00000527619.1_Missense_Mutation_p.S424I|SOX6_ENST00000396356.3_Missense_Mutation_p.S462I|SOX6_ENST00000528429.1_Missense_Mutation_p.S462I|SOX6_ENST00000528252.1_Missense_Mutation_p.S421I			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	462					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGGGATGCTGCTTTTGTTTGG	0.507000													43	252					2.77807e-22	3.08366e-22	1	1	0
STX8	9482	broad.mit.edu	37	17	9460777	9460777	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:9460777C>A	ENST00000306357.4	-	3	613	c.186G>T	c.(184-186)ttG>ttT	p.L62F	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAGCTCTTAGCAATAAGTCCT	0.393000													21	6					8.10497e-08	8.48728e-08	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176011257	176011257	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:176011257C>T	ENST00000510636.1	+	18	2399	c.2125C>T	c.(2125-2127)Cca>Tca	p.P709S	CDHR2_ENST00000261944.5_Missense_Mutation_p.P709S|CDHR2_ENST00000506348.1_Missense_Mutation_p.P709S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	709	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGAGGAGGATCCAGGTATGTG	0.567000													24	34					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115649691	115649691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:115649691G>A	ENST00000374228.4	-	2	1363	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	378						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ATGACGGCTCGAGCTGAAAGA	0.498000													12	18					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75471447	75471447	+	Silent	SNP	A	A	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:75471447A>C	ENST00000266126.5	+	4	521	c.441A>C	c.(439-441)acA>acC	p.T147T	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	147					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CAGAAGGGACAATGGAGAACA	0.353000													28	34					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124819826	124819826	+	Splice_Site	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:124819826C>T	ENST00000356219.3	-	41	6442	c.6287G>A	c.(6286-6288)gGc>gAc	p.G2096D	NCOR2_ENST00000404621.1_Splice_Site_p.G2079D|NCOR2_ENST00000405201.1_Splice_Site_p.G2089D|NCOR2_ENST00000404121.2_Splice_Site_p.G1650D|NCOR2_ENST00000429285.2_Splice_Site_p.G2079D|NCOR2_ENST00000397355.1_Splice_Site_p.G2080D	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2100					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTTCACGGGGCCTGCAGGCAG	0.701000													6	10					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783294	140783294	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:140783294A>G	ENST00000573521.1	+	1	775	c.775A>G	c.(775-777)Acc>Gcc	p.T259A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCAGGCACCTGGCTGCT	0.458000													4	110					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483632	6483632	+	Silent	SNP	G	G	A	rs148261445	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:6483632G>A	ENST00000358945.3	-	1	758	c.318C>T	c.(316-318)ttC>ttT	p.F106F	SCNN1A_ENST00000543768.1_Silent_p.F129F|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Silent_p.F106F|SCNN1A_ENST00000360168.3_Silent_p.F165F|SCNN1A_ENST00000396966.2_Silent_p.F106F			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	106					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGTACTCTCCGAAAAGCAGGC	0.572000													31	42					0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122492803	122492803	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:122492803C>G	ENST00000538010.1	+	5	3202	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	BCL7A_ENST00000261822.4_Missense_Mutation_p.L178V	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	178					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGACTCGGGTCTGGCCGCAGA	0.577000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	140					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74365172	74365172	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:74365172G>T	ENST00000377044.4	-	2	657	c.118C>A	c.(118-120)Cct>Act	p.P40T	TMEM2_ENST00000377066.5_Missense_Mutation_p.P40T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	40						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTCTTTGGAGGAGGAGGGGGA	0.532000													33	57					2.09667e-21	2.31957e-21	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347576	38347576	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:38347576T>C	ENST00000273173.4	+	1	150	c.59T>C	c.(58-60)tTg>tCg	p.L20S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.L20S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	20						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCAGGAACTTGAACCAGCAT	0.527000													87	85					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298497	107298497	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:107298497C>A	ENST00000374781.2	-	1	640	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G200W(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATATTATTCCCACAGAAAGGC	0.423000													54	84					1.83081e-24	2.04584e-24	1	1	0
SLC35B4	84912	broad.mit.edu	37	7	133994157	133994157	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:133994157T>G	ENST00000378509.4	-	2	451	c.152A>C	c.(151-153)gAa>gCa	p.E51A		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	51						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CAAATCAGCTTCAAAGAGGAA	0.388000													5	8					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4637924	4637924	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:4637924C>A	ENST00000293778.6	-	5	1221	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	CXCL16_ENST00000574412.1_Missense_Mutation_p.V267L|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	248					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TCAGGTGCCACAGGTATATAA	0.438000													44	14					6.68952e-21	7.37619e-21	1	1	0
MLKL	197259	broad.mit.edu	37	16	74729419	74729419	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:74729419G>A	ENST00000308807.7	-	2	700	c.237C>T	c.(235-237)ttC>ttT	p.F79F	MLKL_ENST00000306247.7_Silent_p.F79F	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	79							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATCTATTGCTGAACTTTTCTA	0.493000													53	71					0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751451	10751451	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:10751451C>A	ENST00000467317.1	+	4	281	c.186C>A	c.(184-186)aaC>aaA	p.N62K	RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.N62K|TMEM14B_ENST00000379542.5_Missense_Mutation_p.N62K|TMEM14B_ENST00000379530.3_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000461342.1_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	62						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATCCAAGGAACGTTTGGGGTT	0.537000													59	19					2.73361e-28	3.1068e-28	1	1	0
ZDHHC3	51304	broad.mit.edu	37	3	44986696	44986696	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:44986696C>T	ENST00000296127.3	-	3	668	c.395G>A	c.(394-396)tGc>tAc	p.C132Y	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.C166Y|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.C132Y	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	132						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGCTGCAGCATTTGGGGCA	0.572000													61	79					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23481532	23481532	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:23481532G>T	ENST00000376504.3	+	1	277	c.73G>T	c.(73-75)Gac>Tac	p.D25Y		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	25					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGACGAGGACGACTTCTTCAC	0.652000													30	48					1.08312e-15	1.15974e-15	1	1	0
MVP	9961	broad.mit.edu	37	16	29855935	29855935	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:29855935G>T	ENST00000357402.5	+	11	1894	c.1756G>T	c.(1756-1758)Gtc>Ttc	p.V586F	MVP_ENST00000395353.1_Missense_Mutation_p.V586F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	586					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGTGGCCTCTGTCACTTTCGA	0.587000													57	90					5.57489e-27	6.31442e-27	1	1	0
CR1	1378	broad.mit.edu	37	1	207782886	207782886	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:207782886A>G	ENST00000367049.4	+	37	6148	c.6148A>G	c.(6148-6150)Att>Gtt	p.I2050V	CR1_ENST00000367053.1_Missense_Mutation_p.I1600V|CR1_ENST00000367051.1_Missense_Mutation_p.I1600V|CR1_ENST00000367052.1_Missense_Mutation_p.I1600V|CR1_ENST00000400960.2_Missense_Mutation_p.I1600V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1600					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGAAAATGCAATTAGAGTACC	0.458000													18	15					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97655727	97655727	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:97655727T>C	ENST00000182096.4	+	16	2700	c.2636T>C	c.(2635-2637)aTt>aCt	p.I879T	CRYBG3_ENST00000389622.2_Missense_Mutation_p.I86T|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGGAAAACAATTGGTTCCCTC	0.413000													28	44					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212141254	212141254	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:212141254C>T	ENST00000366994.3	-	15	2184	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	INTS7_ENST00000366993.3_Missense_Mutation_p.D694N|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.D694N|INTS7_ENST00000440600.2_Missense_Mutation_p.D645N	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	694					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAGTCAGCATCAAAAGATGCC	0.363000													31	54					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39267529	39267529	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr22:39267529C>G	ENST00000407418.3	-	4	325	c.202G>C	c.(202-204)Ggg>Cgg	p.G68R	CBX6_ENST00000216083.6_Missense_Mutation_p.G68R			O95503	CBX6_HUMAN	chromobox homolog 6	68	Chromo.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TTCTTGGGCCCATACAGCTCA	0.662000													43	72					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100048405	100048405	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:100048405C>T	ENST00000508393.1	-	8	1156	c.991G>A	c.(991-993)Gag>Aag	p.E331K	ADH4_ENST00000423445.1_Missense_Mutation_p.E331K|ADH4_ENST00000265512.7_Missense_Mutation_p.E312K|ADH4_ENST00000505590.1_Missense_Mutation_p.E331K|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	312					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATTAGCTCCTCTGGAAAAATA	0.403000													12	63					0	0	1	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478111	106478111	+	RNA	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:106478111C>T	ENST00000390596.2	-	0	410																											CACTGTGTCTCTCGCACAGTA	0.617000													5	200					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243724	117243724	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:117243724C>A	ENST00000003084.6	+	17	2928	c.2796C>A	c.(2794-2796)ttC>ttA	p.F932L	CFTR_ENST00000454343.1_Missense_Mutation_p.F871L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	932	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGGATTCTTCAGAGGTCTAC	0.408000									Cystic Fibrosis				25	35					1.64293e-13	1.75352e-13	1	1	0
EP400	57634	broad.mit.edu	37	12	132547117	132547117	+	Silent	SNP	G	G	A	rs147048182	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:132547117G>A	ENST00000333577.4	+	48	8422	c.8313G>A	c.(8311-8313)caG>caA	p.Q2771Q	EP400_ENST00000389562.2_Silent_p.Q2734Q|EP400_ENST00000389561.2_Silent_p.Q2735Q|EP400_ENST00000332482.4_Silent_p.Q2698Q|EP400_ENST00000330386.6_Silent_p.Q2654Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2771	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597000													12	76					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472921	22472921	+	RNA	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:22472921C>T	ENST00000557788.2	-	0	349																											CACTGTGTCTCTCGCACAGTA	0.612000													78	466					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17596741	17596741	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:17596741G>A	ENST00000375460.3	+	7	706	c.666G>A	c.(664-666)gtG>gtA	p.V222V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	222					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTGAGGATGTGTGTGAGGCCT	0.602000													42	158					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40739846	40739846	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:40739846C>T	ENST00000392038.2	-	14	1677	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	AKT2_ENST00000424901.1_Missense_Mutation_p.G460D|AKT2_ENST00000311278.6_Missense_Mutation_p.G417D	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	460	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTCCAGTAAGCCCAGGCTGTC	0.667000			A		"""ovarian, pancreatic """								19	29					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957657	111957657	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:111957657G>A	ENST00000369732.3	-	11	1521	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	489					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTCTCTCCAGGGGTCATGGA	0.532000													37	43					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90564541	90564541	+	RNA	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:90564541G>T	ENST00000551025.1	+	0	1567							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTAGACAGCGCTTCCAAATC	0.348000													7	8					5.18039e-06	5.37405e-06	1	1	0
TROAP	10024	broad.mit.edu	37	12	49723220	49723220	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:49723220G>C	ENST00000551245.1	+	11	1258	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	TROAP_ENST00000547923.1_Missense_Mutation_p.D91H|TROAP_ENST00000257909.3_Missense_Mutation_p.D383H			Q12815	TROAP_HUMAN	trophinin associated protein	383					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTGCTCTGAAGATCCTGCCCT	0.612000													21	60					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690305	96690305	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:96690305C>T	ENST00000434632.1	-	16	1998	c.1539G>A	c.(1537-1539)cgG>cgA	p.R513R	GPAT2_ENST00000359548.4_Silent_p.R513R|GPAT2_ENST00000453542.1_Silent_p.R442R|GPAT2_ENST00000377137.3_Silent_p.R513R			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	513					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCACGTGCGCCCGCAGCAGGC	0.642000													60	80					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73136467	73136467	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:73136467G>T	ENST00000545377.1	+	11	1485	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A437S|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A124S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A437S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A437S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A437S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A437S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CGAAGGGACAGCACACACTGA	0.478000													16	23					2.32078e-09	2.44564e-09	1	1	0
ZBTB44	29068	broad.mit.edu	37	11	130106904	130106904	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:130106904C>G	ENST00000397753.1	-	5	1645	c.1352G>C	c.(1351-1353)gGt>gCt	p.G451A	ZBTB44_ENST00000357899.4_Missense_Mutation_p.G451A|ZBTB44_ENST00000530205.1_Splice_Site|ZBTB44_ENST00000525842.1_Splice_Site			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACAGCGTTTACCTTCATGCTT	0.458000													36	30					0	0	1	0	0
COX11	1353	broad.mit.edu	37	17	53040708	53040708	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:53040708T>C	ENST00000299335.3	-	3	745	c.607A>G	c.(607-609)Att>Gtt	p.I203V	COX11_ENST00000571584.1_Missense_Mutation_p.I203V	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	203					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						AATGGAACAATATTGTATGTA	0.343000													3	66					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250737	36250737	+	Silent	SNP	G	G	A	rs114075493	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:36250737G>A	ENST00000315571.5	+	6	849	c.828G>A	c.(826-828)ccG>ccA	p.P276P	LDLRAD3_ENST00000528989.1_Silent_p.P227P|LDLRAD3_ENST00000524419.1_Silent_p.P266P	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	276	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TTCCTCCACCGCCCTACTCTT	0.612000													144	154					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157406197	157406197	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:157406197A>G	ENST00000310454.6	+	7	1111	c.739A>G	c.(739-741)Atg>Gtg	p.M247V	GPD2_ENST00000409125.4_Missense_Mutation_p.M20V|GPD2_ENST00000540309.1_Missense_Mutation_p.M247V|GPD2_ENST00000438166.2_Missense_Mutation_p.M247V|GPD2_ENST00000409674.1_Missense_Mutation_p.M247V	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	247					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGCCAATTACATGGAGGTAGT	0.562000													39	53					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266361	65266361	+	RNA	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:65266361A>G	ENST00000534336.1	+	0	1129					NR_002819.2																						AAGTTCCATAAGCTGTTAAGA	0.363000													37	45					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27350131	27350131	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:27350131G>A	ENST00000376087.4	-	13	1569	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	ANKRD26_ENST00000436985.2_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	468						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCATCTTAAAGTTTCTTGATC	0.299000													30	68					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53995109	53995109	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:53995109T>A	ENST00000396403.4	+	4	1751	c.1623T>A	c.(1621-1623)caT>caA	p.H541Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTGCACATCATCATAGACTTC	0.383000													6	52					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33134528	33134528	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:33134528C>A	ENST00000375030.2	+	16	1718	c.1100C>A	c.(1099-1101)aCc>aAc	p.T367N	C10orf68_ENST00000375028.3_Missense_Mutation_p.T412N|C10orf68_ENST00000375025.4_Missense_Mutation_p.T472N			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	408										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGGAGTCAACCACGACACAA	0.313000													36	51					2.19962e-31	2.53451e-31	1	1	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			69	69					1.93348e-29	2.21253e-29	1	1	0
PNMA1	9240	broad.mit.edu	37	14	74179522	74179522	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:74179522T>C	ENST00000316836.3	-	1	1606	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	274					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ctctaccaccttctgtagcag	0.527000													37	52					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970725	115970725	+	Splice_Site	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:115970725A>G	ENST00000251864.2	+	13	1812	c.1659A>G	c.(1657-1659)tcA>tcG	p.S553S	TDRD1_ENST00000369281.2_Splice_Site_p.S553S|TDRD1_ENST00000369282.1_Splice_Site_p.S553S|TDRD1_ENST00000369280.1_Splice_Site_p.S553S|TDRD1_ENST00000422662.1_Splice_Site_p.S214S	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	553	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCAGTTCTCAGGTAAGGACA	0.353000													27	39					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25458672	25458672	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:25458672G>T	ENST00000264709.3	-	22	2838	c.2501C>A	c.(2500-2502)aCt>aAt	p.T834N	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.T834N|DNMT3A_ENST00000380746.4_Missense_Mutation_p.T645N|DNMT3A_ENST00000402667.1_Missense_Mutation_p.T611N	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	834					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCGTAGTAATGGTCCT	0.433000			"""Mis, F, N, S"""		AML								38	51					4.14481e-20	4.55519e-20	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85478266	85478266	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:85478266G>A	ENST00000394573.1	+	14	1426	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	SLC28A1_ENST00000537216.1_Silent_p.Q408Q|SLC28A1_ENST00000537624.1_Silent_p.Q408Q|SLC28A1_ENST00000286749.3_Silent_p.Q408Q|SLC28A1_ENST00000538177.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	408					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGATGCTCAGAACCTCATAG	0.532000													33	62					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159499163	159499163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:159499163C>T	ENST00000389757.3	+	11	1986	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	PKP4_ENST00000389759.3_Nonsense_Mutation_p.R621*	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	621					cell adhesion	desmosome	protein binding	p.R621*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGCCTTGTTGCGACTGTTGAG	0.413000										HNSCC(62;0.18)			4	90					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151101649	151101649	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:151101649C>T	ENST00000474524.1	+	32	4696	c.4658C>T	c.(4657-4659)tCa>tTa	p.S1553L	MED12L_ENST00000273432.4_Missense_Mutation_p.S1413L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1553					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCATTACTTCAGGAACTGTT	0.428000													16	17					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59148161	59148161	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:59148161T>G	ENST00000472487.1	-	8	594	c.555A>C	c.(553-555)caA>caC	p.Q185H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	185					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CATTTTTAACTTGAAGATTAT	0.343000													24	32					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225152	206225152	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:206225152C>T	ENST00000367126.4	+	1	1177	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	238					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACAGGCCTGGCGGGTGGGAGG	0.597000													8	95					0	0	1	0	0
TK1	7083	broad.mit.edu	37	17	76171688	76171688	+	Missense_Mutation	SNP	G	G	A	rs143988750		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:76171688G>A	ENST00000590430.1	-	4	264	c.221C>T	c.(220-222)tCg>tTg	p.S74L	TK1_ENST00000405273.1_Silent_p.I105I|TK1_ENST00000301634.7_Silent_p.I105I|TK1_ENST00000588734.1_Silent_p.I105I|TK1_ENST00000590862.1_Silent_p.I105I			P04183	KITH_HUMAN	thymidine kinase 1, soluble	0					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			AGAACTCCACGATGTCAGGGA	0.597000													5	141					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110399142	110399142	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:110399142C>T	ENST00000360185.4	-	11	1092	c.928G>A	c.(928-930)Gag>Aag	p.E310K	GIT2_ENST00000354574.4_Missense_Mutation_p.E312K|GIT2_ENST00000338373.5_Missense_Mutation_p.E310K|GIT2_ENST00000320063.9_Missense_Mutation_p.E310K|GIT2_ENST00000551209.1_Missense_Mutation_p.E309K|GIT2_ENST00000361006.5_Missense_Mutation_p.E310K|GIT2_ENST00000343646.5_Missense_Mutation_p.E310K|GIT2_ENST00000553118.1_Missense_Mutation_p.E310K|GIT2_ENST00000457474.2_Missense_Mutation_p.E312K|GIT2_ENST00000547815.1_Missense_Mutation_p.E310K|GIT2_ENST00000356259.4_Missense_Mutation_p.E310K|GIT2_ENST00000355312.3_Missense_Mutation_p.E310K|TCHP_ENST00000550780.1_Intron	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	310					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACCGTTGTCTCGGTTACCAGG	0.532000													25	32					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478258	79478258	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:79478258T>A	ENST00000575842.1	-	3	1184	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ACTG1_ENST00000331925.2_Missense_Mutation_p.E253V|ACTG1_ENST00000573283.1_Missense_Mutation_p.E253V|ACTG1_ENST00000575087.1_Missense_Mutation_p.E253V			P63261	ACTG_HUMAN	actin, gamma 1	253					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGGAACCGCTCATTGCCAAT	0.582000													11	200					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890121	23890121	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:23890121C>G	ENST00000532292.1	-	1	1054	c.960G>C	c.(958-960)gaG>gaC	p.E320D		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTGGACCTCCCAGTCAC	0.612000													9	102					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418789	17418789	+	Silent	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:17418789G>T	ENST00000302539.4	-	32	4067	c.3942C>A	c.(3940-3942)cgC>cgA	p.R1314R	ABCC8_ENST00000389817.3_Silent_p.R1313R	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1313					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCCCATGGATGCGCTTCACAG	0.612000													44	80					2.00842e-17	2.17144e-17	1	1	0
CAPN1	823	broad.mit.edu	37	11	64950403	64950403	+	Silent	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:64950403C>A	ENST00000527323.1	+	1	471	c.231C>A	c.(229-231)tcC>tcA	p.S77S	CAPN1_ENST00000533820.1_Silent_p.S77S|CAPN1_ENST00000279247.6_Silent_p.S77S|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Silent_p.S77S|CAPN1_ENST00000524773.1_Silent_p.S77S			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	77	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GTCCCAATTCCTCCAAGACCT	0.622000													12	19					0.000151284	0.00015406	1	1	0
FTH1	2495	broad.mit.edu	37	11	61732243	61732243	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:61732243G>A	ENST00000273550.7	-	4	742	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FTH1_ENST00000532601.1_Missense_Mutation_p.L100F|FTH1_ENST00000526640.1_Missense_Mutation_p.L140F|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	170					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TTGTCAAAGAGATATTCCGCC	0.522000													5	64					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772659	118772659	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:118772659A>C	ENST00000334801.3	-	6	2757	c.1793T>G	c.(1792-1794)tTt>tGt	p.F598C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	598					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCCCAGGAAAGGGAGGTCC	0.627000													9	14					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152995	49152995	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:49152995T>G	ENST00000453664.1	-	12	2052	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D	USP19_ENST00000398896.1_Missense_Mutation_p.E295D|USP19_ENST00000398888.2_Missense_Mutation_p.E487D|USP19_ENST00000398898.2_Missense_Mutation_p.E527D|USP19_ENST00000434032.2_Missense_Mutation_p.E588D|USP19_ENST00000417901.1_Missense_Mutation_p.E590D|USP19_ENST00000398892.3_Missense_Mutation_p.E527D	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	487					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ccttcttctcttcctcttcct	0.547000													20	21					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440679	10440679	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:10440679C>A	ENST00000245503.5	-	16	2152	c.1768G>T	c.(1768-1770)Gac>Tac	p.D590Y	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D590Y|MYH2_ENST00000532183.2_Missense_Mutation_p.D590Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	590	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGTTGTAGTCCACAACACCA	0.532000													78	22					3.20846e-33	3.70979e-33	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154310140	154310140	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:154310140T>G	ENST00000368487.3	+	12	1341	c.1154T>G	c.(1153-1155)gTa>gGa	p.V385G	ATP8B2_ENST00000341822.2_Intron|ATP8B2_ENST00000368489.3_Intron|ATP8B2_ENST00000426445.1_Intron	NM_001005855.1	NP_001005855.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	428					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTGTACTGTAAACATTTGA	0.393000													20	37					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98194720	98194720	+	Splice_Site	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:98194720C>G	ENST00000284049.3	-	33	4674		c.e33-1			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACTGTTTTGCTAAAATAAAT	0.299000													20	26					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220363468	220363468	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:220363468G>A	ENST00000358951.2	-	16	1768	c.1652C>T	c.(1651-1653)gCc>gTc	p.A551V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	551					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CATATCCTTGGCTCGTTCACT	0.308000													15	24					0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95254270	95254270	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:95254270G>A	ENST00000376958.4	+	1	114	c.89G>A	c.(88-90)aGc>aAc	p.S30N		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	30						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGCAGCTTCAGCAGCACCGCG	0.721000													7	5					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5563182	5563182	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:5563182A>C	ENST00000397747.3	+	6	1035	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T173P	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	263					immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		AAGACCTGTCACCACAACAAA	0.333000													6	19					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683576	27683576	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:27683576G>A	ENST00000493901.1	-	25	3527	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	MAP3K6_ENST00000357582.2_Silent_p.I1096I|MAP3K6_ENST00000374040.3_Silent_p.I1088I	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1096					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGTGTGGACGGATCTGGCGCT	0.642000													24	33					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924782	4924782	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:4924782C>T	ENST00000396658.4	+	14	3074	c.2371C>T	c.(2371-2373)Cac>Tac	p.H791Y	UBN1_ENST00000262376.6_Missense_Mutation_p.H791Y|UBN1_ENST00000545171.1_Missense_Mutation_p.H791Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H791Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	791					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.H791Y(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACGGACGTCTCACGGGCCCCA	0.572000													70	96					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCACCTTGACGATATCGCCC	0.557000									Wilson disease				13	65					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41224075	41224075	+	Silent	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:41224075A>T	ENST00000263370.2	+	1	1068	c.1035A>T	c.(1033-1035)ggA>ggT	p.G345G		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	345						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCCAGTGGGACCCCCCTCCC	0.667000													69	85					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031777	58031777	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:58031777G>A	ENST00000299237.2	-	2	1015	c.393C>T	c.(391-393)ccC>ccT	p.P131P		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACAGACGAAGGGCTTCTGCT	0.582000													6	86					0	0	1	0	0
HOXB6	3216	broad.mit.edu	37	17	46673862	46673862	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:46673862G>A	ENST00000484302.2	-	3	1210	c.588C>T	c.(586-588)aaC>aaT	p.N196N	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB6_ENST00000225648.3_Silent_p.N196N|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron			P17509	HXB6_HUMAN	homeobox B6	196					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGCGTCGGTTCTGGAACC	0.572000													13	336					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50289836	50289836	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:50289836C>G	ENST00000313601.6	+	3	553	c.169C>G	c.(169-171)Cac>Gac	p.H57D	GNAI2_ENST00000266027.5_Missense_Mutation_p.H41D|GNAI2_ENST00000422163.1_Missense_Mutation_p.H41D|GNAI2_ENST00000440628.1_Missense_Mutation_p.H5D|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.H20D	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	57					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CAGGATCATCCACGAGGATGG	0.592000													34	52					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148664260	148664260	+	Silent	SNP	G	G	T	rs141615365	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:148664260G>T	ENST00000367467.3	+	1	532	c.57G>T	c.(55-57)ccG>ccT	p.P19P	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	19	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		agcccgagccggagcccgagc	0.766000													3	15					0.004672	0.00470023	1	1	0
JPH4	84502	broad.mit.edu	37	14	24045150	24045150	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:24045150G>C	ENST00000397118.3	-	4	1797	c.895C>G	c.(895-897)Cgc>Ggc	p.R299G	JPH4_ENST00000356300.4_Missense_Mutation_p.R299G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	299					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTTGGAGCGCTGGCTGACG	0.761000													12	9					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35777221	35777221	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:35777221A>G	ENST00000261479.4	+	2	218	c.98A>G	c.(97-99)aAc>aGc	p.N33S	PSMA6_ENST00000553809.1_Missense_Mutation_p.N33S|PSMA6_ENST00000556506.1_Missense_Mutation_p.N33S|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.N14S|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AAGGCTATTAACCAGGGTGGC	0.338000													25	36					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760417	153760417	+	Silent	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:153760417G>C	ENST00000393562.2	-	12	1916	c.1533C>G	c.(1531-1533)ccC>ccG	p.P511P	G6PD_ENST00000369620.2_Silent_p.P527P|G6PD_ENST00000393564.2_Silent_p.P481P	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	481					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATAAATATAGGGGATGGGCT	0.622000													4	20					0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107600179	107600179	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:107600179G>A	ENST00000361318.5	+	1	913	c.665G>A	c.(664-666)gGc>gAc	p.G222D	PRMT6_ENST00000370078.1_Missense_Mutation_p.G281D	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	281					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		AGCTGCTATGGCTCGGCGCCC	0.677000													26	41					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:199011631G>A	ENST00000428675.1	+	6	3631	c.3233G>A	c.(3232-3234)cGc>cAc	p.R1078H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1078					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512000													6	40					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272071	52272071	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:52272071C>T	ENST00000598776.1	+	2	932	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	FPR2_ENST00000340023.6_Missense_Mutation_p.R54W|FPR2_ENST00000598953.1_Missense_Mutation_p.R54W	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGCTGGATTCCGGATGACACG	0.557000													20	109					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18088106	18088106	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:18088106C>T	ENST00000399138.4	+	1	554	c.549C>T	c.(547-549)ccC>ccT	p.P183P	ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	183						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GCGTCATCCCCGAGGGCTTCG	0.662000													27	6					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369111	78369111	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:78369111G>A	ENST00000278550.7	-	34	8764	c.8302C>T	c.(8302-8304)Cgg>Tgg	p.R2768W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTCACCTCCGGCCCATCTCG	0.478000													138	209					0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56385220	56385220	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:56385220A>T	ENST00000360299.5	+	5	736	c.515A>T	c.(514-516)gAt>gTt	p.D172V	RAB5B_ENST00000448789.2_Missense_Mutation_p.D131V|RAB5B_ENST00000553116.1_Missense_Mutation_p.D172V	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	172					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AACGTGAATGATCTCTTCCTG	0.453000													31	49					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128870988	128870988	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:128870988T>A	ENST00000296468.3	-	4	296	c.169A>T	c.(169-171)Atg>Ttg	p.M57L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.M12L|MFSD8_ENST00000541133.1_Missense_Mutation_p.M12L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	57					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ATGGACATCATCACTACAGAA	0.318000													42	75					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100201601	100201601	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:100201601T>C	ENST00000223061.5	+	3	504	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	75	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCAGACTGTGTCCCTCTCA	0.677000													37	56					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4714751	4714751	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:4714751C>T	ENST00000399577.5	+	6	696	c.603C>T	c.(601-603)atC>atT	p.I201I	MGRN1_ENST00000415496.1_Silent_p.I201I|MGRN1_ENST00000586183.1_Silent_p.I201I|MGRN1_ENST00000262370.7_Silent_p.I201I|MGRN1_ENST00000588994.1_Silent_p.I201I	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	201					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CAGTAGTCATCCAGGCTGTGG	0.602000													53	69					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8601299	8601299	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:8601299G>A	ENST00000337907.3	-	8	1438	c.804C>T	c.(802-804)taC>taT	p.Y268Y	RERE_ENST00000400907.2_Silent_p.Y268Y|RERE_ENST00000400908.2_Silent_p.Y268Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	268	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATCCTAATATGTAGAAAAATG	0.373000													34	35					0	0	1	0	0
TMEM30A	55754	broad.mit.edu	37	6	75970565	75970565	+	Silent	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:75970565T>A	ENST00000230461.6	-	4	845	c.516A>T	c.(514-516)ggA>ggT	p.G172G	TMEM30A_ENST00000370050.5_Silent_p.G53G|TMEM30A_ENST00000475111.2_Silent_p.G136G	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	172						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGCAATAGCTCCACAAGGAG	0.308000													22	34					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257050	69257050	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:69257050C>T	ENST00000439696.2	-	2	518	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.G73S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	73					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGGCTCACCCTTGAGGCTG	0.692000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	28					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223718	35223718	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:35223718C>G	ENST00000338513.1	+	2	960	c.787C>G	c.(787-789)Cgc>Ggc	p.R263G		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	263					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CTTACCAGACCGCCCCCGAGA	0.572000													23	33					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466660	32466660	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:32466660T>G	ENST00000357033.4	-	27	3905	c.3699A>C	c.(3697-3699)caA>caC	p.Q1233H	DMD_ENST00000378677.2_Missense_Mutation_p.Q1229H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1233					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAAGGCCTCTTGTGCTACAG	0.433000													20	27					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5170462	5170462	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr20:5170462G>A	ENST00000460006.1	+	12	1490	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I	CDS2_ENST00000379062.4_Missense_Mutation_p.V275I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.V165I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	395					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CTTTGTCAATGTATACATCGC	0.448000													17	112					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100687052	100687052	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:100687052A>G	ENST00000306151.4	+	3	12419	c.12355A>G	c.(12355-12357)Att>Gtt	p.I4119V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4119						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATACTACAATTAAGAGCAA	0.468000													6	97					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877725	2877725	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:2877725T>C	ENST00000355842.3	+	3	946	c.83T>C	c.(82-84)gTa>gCa	p.V28A	ADD1_ENST00000398125.1_Missense_Mutation_p.V28A|ADD1_ENST00000446856.1_Missense_Mutation_p.V28A|ADD1_ENST00000513328.2_Missense_Mutation_p.V28A|ADD1_ENST00000398123.2_Missense_Mutation_p.V28A|ADD1_ENST00000503455.2_Missense_Mutation_p.V28A|ADD1_ENST00000264758.7_Missense_Mutation_p.V28A|ADD1_ENST00000398129.1_Missense_Mutation_p.V28A			P35611	ADDA_HUMAN	adducin 1 (alpha)	28					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCGACCGAGTAGATGAGAAC	0.517000													42	73					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155269945	155269945	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:155269945A>G	ENST00000392414.3	-	2	247	c.134T>C	c.(133-135)cTg>cCg	p.L45P	PKLR_ENST00000342741.4_Missense_Mutation_p.L76P	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.L76K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTCAATGTCCAGTAGGCAGAG	0.602000													33	54					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16373136	16373136	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:16373136G>A	ENST00000375679.4	+	4	447	c.336G>A	c.(334-336)caG>caA	p.Q112Q		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCTCTCAGAGCATCACAC	0.602000													31	28					0	0	1	0	0
HSBP1	3281	broad.mit.edu	37	16	83842915	83842915	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:83842915G>C	ENST00000433866.2	+	3	352	c.118G>C	c.(118-120)Gat>Cat	p.D40H	HSBP1_ENST00000570259.1_Missense_Mutation_p.D40H	NM_001537.3	NP_001528.1	O75506	HSBP1_HUMAN	heat shock factor binding protein 1	40					negative regulation of transcription from RNA polymerase II promoter	nucleus	transcription corepressor activity						all_cancers(2;0.00573)|all_epithelial(2;0.0309)		BRCA - Breast invasive adenocarcinoma(80;0.0404)		AGCACTTGATGATATGAGTAG	0.468000													6	9					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78865582	78865582	+	Silent	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:78865582C>A	ENST00000306801.3	+	18	2408	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A	RPTOR_ENST00000544334.2_Silent_p.A524A|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	682					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCACCGTGGCCCTGCAGTTCA	0.552000													8	194					0.00448238	0.00452313	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203667353	203667353	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:203667353A>G	ENST00000357681.5	+	3	1385	c.262A>G	c.(262-264)Aaa>Gaa	p.K88E	ATP2B4_ENST00000341360.2_Missense_Mutation_p.K88E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.K88E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K88E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K88E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	88					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATCCCCCCCAAAAAGCCCAA	0.488000													31	37					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	26					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73316548	73316548	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:73316548G>A	ENST00000578961.1	-	4	560	c.386C>T	c.(385-387)tCa>tTa	p.S129L	GRB2_ENST00000392563.1_Silent_p.V144V|GRB2_ENST00000392562.1_Silent_p.V185V|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.V144V|GRB2_ENST00000392564.1_Silent_p.V185V|GRB2_ENST00000316804.5_Silent_p.V185V			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	0	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.V185V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AGTTATCCATGACATGGATAA	0.562000													17	270					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790240	80790240	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:80790240G>A	ENST00000269394.3	-	2	924	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	31						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAAGTAAAGGGACATTGGAAA	0.408000													106	16					0	0	1	0	0
SLC25A4	291	broad.mit.edu	37	4	186066147	186066147	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:186066147C>T	ENST00000281456.6	+	2	473	c.341C>T	c.(340-342)gCt>gTt	p.A114V		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4				A -> P (in PEOA2).		energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	CGCTACTTTGCTGGTAACCTG	0.577000													50	55					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				22	25					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938500	107938500	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:107938500A>G	ENST00000328300.6	+	52	5069	c.4825A>G	c.(4825-4827)Aca>Gca	p.T1609A	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1603A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1603	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.T1603S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTATAGCATACAAGTGCAGG	0.483000									Alport syndrome with Diffuse Leiomyomatosis				56	5					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39771492	39771492	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:39771492T>G	ENST00000518237.1	+	1	690	c.51T>G	c.(49-51)atT>atG	p.I17M	IDO1_ENST00000522495.1_Missense_Mutation_p.I17M|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	17					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AGTACCATATTGATGAAGAAG	0.448000													8	7					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669550	53669550	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:53669550T>G	ENST00000396424.3	-	4	282	c.193A>C	c.(193-195)Aat>Cat	p.N65H	ZNF665_ENST00000600412.1_5'UTR	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCCATATTGTTCTTCCCC	0.388000													128	170					0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31129271	31129271	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:31129271T>A	ENST00000376257.3	+	3	1040	c.286T>A	c.(286-288)Ttg>Atg	p.L96M	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.L96M	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	96					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAGGCTGGAATTGAGTGATGG	0.517000													53	66					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2014478	2014478	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:2014478G>A	ENST00000529806.1	-	1	335	c.149C>T	c.(148-150)gCt>gTt	p.A50V	RPS2_ENST00000343262.4_Missense_Mutation_p.A50V|RPS2_ENST00000530225.1_Missense_Mutation_p.A50V|RPS2_ENST00000526522.1_Missense_Mutation_p.A50V			P15880	RS2_HUMAN	ribosomal protein S2	50					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCCTCCGCGAGCTCCGCGGCC	0.746000													3	18					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126017812	126017812	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:126017812T>C	ENST00000265896.5	+	3	1488	c.590T>C	c.(589-591)aTt>aCt	p.I197T	SQLE_ENST00000523430.1_Missense_Mutation_p.I102T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	197					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGTTACATGATTCATGATCAG	0.413000													109	79					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44049174	44049174	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr20:44049174G>A	ENST00000279036.6	+	8	954	c.874G>A	c.(874-876)Gag>Aag	p.E292K	PIGT_ENST00000279035.9_Missense_Mutation_p.E190K|PIGT_ENST00000372689.5_Missense_Mutation_p.E292K|PIGT_ENST00000543458.2_Missense_Mutation_p.E236K|PIGT_ENST00000535404.1_Missense_Mutation_p.E137K|PIGT_ENST00000341555.5_Missense_Mutation_p.E98K|PIGT_ENST00000545755.1_Missense_Mutation_p.E30K	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	292					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCAGGACAACGAGACATTAGA	0.562000													21	26					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868471	57868471	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:57868471C>T	ENST00000393797.2	-	17	2129	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G556D|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G635D|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G575D|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G372D|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G556D			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	575	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCGATAAATGCCATCCACATC	0.512000													57	106					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64863508	64863508	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:64863508A>T	ENST00000328747.7	+	4	680	c.481A>T	c.(481-483)Aat>Tat	p.N161Y	ZNF92_ENST00000357512.2_Missense_Mutation_p.N129Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.N92Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.N85Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TCCAAATGTAAATAGAAATAA	0.303000													4	70					0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67701899	67701899	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:67701899A>G	ENST00000403458.4	+	3	606	c.451A>G	c.(451-453)Aaa>Gaa	p.K151E	C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	151										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCATCTGCCAAACAGCACAA	0.602000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	52					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75319175	75319175	+	Silent	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:75319175T>C	ENST00000434603.2	-	2	1162	c.1098A>G	c.(1096-1098)gaA>gaG	p.E366E	MAP6_ENST00000304771.3_Silent_p.E366E|MAP6_ENST00000526740.1_Silent_p.E37E	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	366	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CCTTGAAGGGTTCGCTGTAGA	0.537000													10	68					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1118168	1118168	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:1118168A>G	ENST00000358220.1	+	2	217	c.73A>G	c.(73-75)Ata>Gta	p.I25V	WDR37_ENST00000381329.1_Missense_Mutation_p.I25V|WDR37_ENST00000263150.4_Missense_Mutation_p.I25V			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	25										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TAGCCTTTCTATACGAAGAAC	0.473000													60	75					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057238	180057238	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:180057238A>T	ENST00000261937.6	-	4	578	c.500T>A	c.(499-501)gTc>gAc	p.V167D	FLT4_ENST00000393347.3_Missense_Mutation_p.V167D|FLT4_ENST00000502649.1_Missense_Mutation_p.V167D|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	167	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGCAGCGTGACATTGAGGCC	0.642000													25	38					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40041436	40041436	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:40041436G>C	ENST00000372857.3	-	1	980	c.188C>G	c.(187-189)gCc>gGc	p.A63G	PABPC4_ENST00000372858.3_Missense_Mutation_p.A63G|PABPC4_ENST00000372862.3_Missense_Mutation_p.A63G|PABPC4_ENST00000372856.3_Missense_Mutation_p.A63G	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	63	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCACCGTCGGCCGGCTGCTG	0.682000													19	18					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30768824	30768824	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:30768824C>T	ENST00000543610.1	-	9	1930	c.969G>A	c.(967-969)ccG>ccA	p.P323P	C16orf93_ENST00000541260.1_Silent_p.P388P|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	323								p.P286P(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGCCTTTACCCGGAGGTAGCT	0.597000													137	218					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29182252	29182252	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:29182252C>T	ENST00000321990.4	+	7	2920	c.2542C>T	c.(2542-2544)Cgg>Tgg	p.R848W	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	848					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTGTTGAAACGGCAAATTGC	0.403000													20	27					0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	12940643	12940643	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:12940643C>T	ENST00000378839.1	-	7	1163	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CCDC3_ENST00000378825.3_Missense_Mutation_p.E196K	NM_001282658.1	NP_001269587.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	196						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGGTCCTCCTCCTCAAACAAG	0.612000													46	41					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430732	149430732	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:149430732G>T	ENST00000255992.10	+	18	3085	c.2686G>T	c.(2686-2688)Gct>Tct	p.A896S	KRBA1_ENST00000319551.8_Missense_Mutation_p.A836S|KRBA1_ENST00000485033.2_Missense_Mutation_p.A836S|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	897										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCTGCAGGGCTGGTGACCT	0.662000													3	12					0.115264	0.115611	1	1	0
LYST	1130	broad.mit.edu	37	1	235971786	235971786	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:235971786C>A	ENST00000389794.3	-	5	2506	c.2332G>T	c.(2332-2334)Gta>Tta	p.V778L	LYST_ENST00000389793.2_Missense_Mutation_p.V778L|LYST_ENST00000536965.1_Missense_Mutation_p.V778L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	778					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAGTTTTTACATAAATCTGA	0.458000													16	37					3.45872e-05	3.57687e-05	1	1	0
TMBIM6	7009	broad.mit.edu	37	12	50152506	50152506	+	Silent	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:50152506C>A	ENST00000423828.1	+	7	976	c.648C>A	c.(646-648)tcC>tcA	p.S216S	TMBIM6_ENST00000395006.4_Silent_p.S158S|TMBIM6_ENST00000267115.5_Silent_p.S158S|TMBIM6_ENST00000547798.1_Silent_p.S121S|TMBIM6_ENST00000549385.1_Silent_p.S158S|TMBIM6_ENST00000552699.1_Silent_p.S216S	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	158					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTTGTCTTCCCTGGGGAATG	0.433000													24	36					2.41591e-17	2.60355e-17	1	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40735778	40735778	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:40735778G>A	ENST00000372759.3	+	5	771	c.606G>A	c.(604-606)ctG>ctA	p.L202L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	202						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGCCTGGCTGTTCACATTAG	0.333000													56	108					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83795831	83795831	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:83795831C>T	ENST00000432794.1	-	6	735	c.572G>A	c.(571-573)gGc>gAc	p.G191D	SEC31A_ENST00000513858.1_Missense_Mutation_p.G191D|SEC31A_ENST00000505984.1_Missense_Mutation_p.G191D|SEC31A_ENST00000348405.4_Missense_Mutation_p.G191D|SEC31A_ENST00000326950.5_Missense_Mutation_p.G191D|SEC31A_ENST00000395310.2_Missense_Mutation_p.G191D|SEC31A_ENST00000443462.2_Missense_Mutation_p.G186D|SEC31A_ENST00000508479.1_Missense_Mutation_p.G191D|SEC31A_ENST00000355196.2_Missense_Mutation_p.G191D|SEC31A_ENST00000505472.1_Missense_Mutation_p.G191D|SEC31A_ENST00000509142.1_Missense_Mutation_p.G191D|SEC31A_ENST00000311785.7_Missense_Mutation_p.G191D|SEC31A_ENST00000500777.2_Missense_Mutation_p.G191D|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Missense_Mutation_p.G191D|SEC31A_ENST00000508502.1_Missense_Mutation_p.G191D			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	191	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGTGGCCCGGCCACTGGGACT	0.413000													37	70					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273470	162273470	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:162273470C>T	ENST00000389554.3	+	1	866	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACGGCCACTCCTACCAAGGAG	0.627000													56	110					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169352	110169352	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:110169352C>A	ENST00000256578.3	+	6	1058	c.698C>A	c.(697-699)cCg>cAg	p.P233Q	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.P115Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.P158Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.P233Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.P114Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.P152Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	233					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCAGGTGCCGTTCACAGAC	0.577000													56	73					1.27862e-28	1.45815e-28	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464148	141464148	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:141464148A>C	ENST00000247879.2	+	1	252	c.190A>C	c.(190-192)Act>Cct	p.T64P	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	64					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TATTATCTTGACTGATAGTTT	0.388000													87	118					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107850106	107850106	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:107850106G>A	ENST00000328300.6	+	29	2623	c.2379G>A	c.(2377-2379)ggG>ggA	p.G793G	COL4A5_ENST00000361603.2_Silent_p.G793G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	793	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCTTAGATGGGCTCCCTGGAC	0.502000									Alport syndrome with Diffuse Leiomyomatosis				67	7					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321564	40321564	+	Silent	SNP	C	C	A	rs148380980	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:40321564C>A	ENST00000264661.3	-	9	1853	c.1521G>T	c.(1519-1521)ccG>ccT	p.P507P	KCNH4_ENST00000607371.1_Silent_p.P507P	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	507					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTGCTTGAGCGGCCGCGGCA	0.622000													78	51					5.88917e-42	6.85697e-42	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921375	12921375	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:12921375T>C	ENST00000240189.2	+	4	1253	c.1166T>C	c.(1165-1167)aTg>aCg	p.M389T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	389										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAATTGCATGTCTATTGAC	0.557000													49	246					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537646	24537646	+	Silent	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:24537646G>C	ENST00000264463.4	-	3	876	c.369C>G	c.(367-369)gcC>gcG	p.A123A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	123	Cadherin 1.				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)		GAGTATAAAAGGCCTTTTCCT	0.383000										HNSCC(23;0.051)			43	61					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151497239	151497239	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:151497239G>A	ENST00000271636.7	+	8	1624	c.1491G>A	c.(1489-1491)ttG>ttA	p.L497L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	491	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCGGGAGTTGACAGCCCTGA	0.602000													8	22					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444715	150444715	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:150444715G>A	ENST00000401000.4	+	10	3278	c.3213G>A	c.(3211-3213)agG>agA	p.R1071R	RPRD2_ENST00000369068.4_Silent_p.R1097R|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1097							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAATAGGAGGATGTCAGGGG	0.537000													20	31					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020256	189020256	+	Missense_Mutation	SNP	C	C	T	rs141454212	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:189020256C>T	ENST00000512729.1	-	4	778	c.404G>A	c.(403-405)cGc>cAc	p.R135H	TRIML2_ENST00000536972.1_Missense_Mutation_p.R185H|TRIML2_ENST00000326754.3_Missense_Mutation_p.R135H	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	135							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TAGGAGGCTGCGGACCTGTTC	0.478000													53	42					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087354	55087354	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:55087354C>A	ENST00000251377.3	+	7	1166	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K	LILRA2_ENST00000251376.3_Missense_Mutation_p.Q345K|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q333K|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGCTGTGTCAGTCACGGGG	0.587000													44	50					6.5261e-18	7.10194e-18	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	135					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283714	152283714	+	Silent	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:152283714T>G	ENST00000368799.1	-	3	3683	c.3648A>C	c.(3646-3648)gcA>gcC	p.A1216A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1216	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCTGCTTGCACTTCTGG	0.547000									Ichthyosis				5	578					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140507793	140507793	+	Silent	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:140507793C>G	ENST00000288602.6	-	5	738	c.678G>C	c.(676-678)gtG>gtC	p.V226V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	226	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATTCTCCAACACTTCCACAT	0.323000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	25					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922864	44922864	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:44922864C>T	ENST00000377967.4	+	16	1766	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	KDM6A_ENST00000543216.1_Silent_p.G496G|KDM6A_ENST00000382899.4_Silent_p.G582G|KDM6A_ENST00000536777.1_Silent_p.G530G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	575					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCTGCAGGCCATGTTCCCT	0.517000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								21	3					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179155596	179155596	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:179155596A>G	ENST00000247461.4	+	15	1930	c.1730A>G	c.(1729-1731)gAt>gGt	p.D577G	CANX_ENST00000415618.2_Missense_Mutation_p.D612G|CANX_ENST00000504734.1_Missense_Mutation_p.D577G|CANX_ENST00000452673.2_Missense_Mutation_p.D577G|CANX_ENST00000512607.2_Missense_Mutation_p.D469G	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	577					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATAGGAGGATGAAATTTTG	0.348000													11	27					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162870960	162870960	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:162870960A>T	ENST00000360534.3	-	19	2143	c.1583T>A	c.(1582-1584)aTg>aAg	p.M528K	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	528					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGGCAAGATCATCTGATACCA	0.323000													23	17					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77345242	77345242	+	Silent	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:77345242T>G	ENST00000267970.4	-	5	735	c.462A>C	c.(460-462)tcA>tcC	p.S154S	TSPAN3_ENST00000346495.2_Silent_p.S129S|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000559494.1_Silent_p.S65S|TSPAN3_ENST00000424443.3_Silent_p.S90S|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	154						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TTTCCCAGTCTGAGTAGTTGT	0.423000													12	17					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101077951	101077951	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:101077951C>G	ENST00000376285.1	+	20	1849	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	PCCA_ENST00000376286.4_Missense_Mutation_p.S578C|PCCA_ENST00000376279.3_Missense_Mutation_p.S604C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	604					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CCCTTATTGTCTGTCAGCGTT	0.493000													18	18					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874888	55874888	+	Missense_Mutation	SNP	T	T	A	rs59033822		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:55874888T>A	ENST00000388975.3	-	8	997	c.881A>T	c.(880-882)gAa>gTa	p.E294V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	294					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTAGATTTTCCATATTGGT	0.353000													34	44					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571190	86571190	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:86571190A>G	ENST00000376344.3	-	1	442	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	76										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CAAAAGGAGAAGTTGAGCGTG	0.607000													62	66					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130098496	130098496	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:130098496G>T	ENST00000373387.4	+	11	1315	c.963G>T	c.(961-963)atG>atT	p.M321I	GARNL3_ENST00000435213.2_Missense_Mutation_p.M299I|GARNL3_ENST00000314904.5_Missense_Mutation_p.M321I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	321	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGCCTTCCATGATCCGCTCCC	0.488000													13	22					0.00010058	0.000103056	1	1	0
WNT10B	7480	broad.mit.edu	37	12	49364022	49364022	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:49364022G>A	ENST00000301061.4	-	3	535	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	WNT10B_ENST00000403957.1_Silent_p.L63L|WNT10B_ENST00000407467.1_Silent_p.L63L	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	63					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GGGTTGCGCAGGCACAGGCCT	0.677000													3	16					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932686	83932686	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:83932686C>T	ENST00000345382.2	-	4	1402	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.K432K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	439					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AACCTGGGCACTTGTAGTTCT	0.562000													42	55					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95174132	95174132	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:95174132C>T	ENST00000354268.4	+	9	1328	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R419W			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	419					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AACAGAACTCCGGCCCTTTAA	0.383000													6	117					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1638914	1638914	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:1638914G>A	ENST00000356200.3	-	10	1311	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Silent_p.P392P|CDK11A_ENST00000378638.2_Silent_p.P359P|CDK11A_ENST00000378635.3_3'UTR|CDK11A_ENST00000404249.3_Silent_p.P393P|CDK11A_ENST00000358779.5_Silent_p.P383P|CDK11A_ENST00000378633.1_Silent_p.P396P					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAGGGGAGTCGGGCACATAGT	0.672000													25	32					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77708767	77708767	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:77708767A>G	ENST00000298351.4	+	14	1286	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	381						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GTCAAATCATATTACTGGAGG	0.522000													110	145					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570068	53570068	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:53570068C>T	ENST00000025008.5	-	15	2844	c.2321G>A	c.(2320-2322)aGt>aAt	p.S774N	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S774N|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S774N	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	774					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATTCGTCTACTGTCTATCGC	0.388000													72	58					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79632824	79632824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:79632824G>A	ENST00000393350.1	-	1	1787	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	MAF_ENST00000569649.1_Nonsense_Mutation_p.Q326*|MAF_ENST00000326043.4_Nonsense_Mutation_p.Q326*	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	326	Leucine-zipper.|Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TGGTCGACTTGCTGCAGCAGC	0.592000			T	IGH@	MM								21	22					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117556216	117556216	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:117556216A>G	ENST00000256652.4	+	4	1088	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	CD101_ENST00000369470.1_Missense_Mutation_p.R344G	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	344	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTACAAAGAGAGAGCAAGTCA	0.507000													32	38					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46321518	46321518	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr21:46321518C>T	ENST00000397850.2	-	7	1082	c.630G>A	c.(628-630)ctG>ctA	p.L210L	ITGB2_ENST00000397854.3_Silent_p.L153L|ITGB2_ENST00000355153.4_Silent_p.L210L|ITGB2_ENST00000302347.5_Silent_p.L210L|ITGB2_ENST00000397852.1_Silent_p.L210L|ITGB2_ENST00000397857.1_Silent_p.L210L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	210	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGTTGTTGGTCAGCTTCAGCA	0.587000													39	72					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216256457	216256457	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:216256457T>C	ENST00000354785.4	-	26	4519	c.4150A>G	c.(4150-4152)Att>Gtt	p.I1384V	FN1_ENST00000357867.4_Missense_Mutation_p.I1293V|FN1_ENST00000356005.4_Missense_Mutation_p.I1293V|FN1_ENST00000336916.4_Missense_Mutation_p.I1293V|FN1_ENST00000432072.2_Missense_Mutation_p.I1384V|FN1_ENST00000359671.1_Missense_Mutation_p.I1293V|FN1_ENST00000323926.6_Missense_Mutation_p.I1384V|FN1_ENST00000346544.3_Missense_Mutation_p.I1293V|FN1_ENST00000357009.2_Missense_Mutation_p.I1293V|FN1_ENST00000421182.1_Missense_Mutation_p.I1293V|FN1_ENST00000345488.5_Missense_Mutation_p.I1293V|FN1_ENST00000446046.1_Missense_Mutation_p.I1293V|FN1_ENST00000443816.1_Missense_Mutation_p.I1293V			P02751	FINC_HUMAN	fibronectin 1	1383	Cell-attachment.|Fibronectin type-III 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTAAATCAATGGATGGGGGT	0.488000													37	61					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95161064	95161064	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:95161064A>T	ENST00000027335.3	-	14	1959	c.1835T>A	c.(1834-1836)aTt>aAt	p.I612N	CDH17_ENST00000441892.2_Missense_Mutation_p.I398N|CDH17_ENST00000450165.2_Missense_Mutation_p.I612N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	612	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACGTGGTCAATTTTAAGCCA	0.448000													19	15					0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51853643	51853643	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:51853643G>A	ENST00000354232.4	-	3	3118	c.651C>T	c.(649-651)gcC>gcT	p.A217A	CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000309244.4_Silent_p.A126A	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	126					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		catcatcgatggcctgaatgg	0.532000													4	6					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369049	139369049	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:139369049T>C	ENST00000313050.7	-	1	3092	c.3019A>G	c.(3019-3021)Aac>Gac	p.N1007D	SEC16A_ENST00000371706.3_Missense_Mutation_p.N829D|SEC16A_ENST00000290037.6_Missense_Mutation_p.N829D|SEC16A_ENST00000431893.2_Missense_Mutation_p.N829D	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	829	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGTACACGTTTACAGGATTT	0.507000													14	17					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574332	140574332	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:140574332G>T	ENST00000239446.4	+	1	2391	c.2207G>T	c.(2206-2208)gGg>gTg	p.G736V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		736					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)			CCTTTTCCAGGGCATCTGGTG	0.652000													61	120					9.77497e-20	1.07074e-19	1	1	0
TMEM14E	645843	broad.mit.edu	37	3	152058460	152058460	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:152058460C>T	ENST00000408960.3	-	1	319	c.234G>A	c.(232-234)gcG>gcA	p.A78A	MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282486.6_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	78						integral to membrane				lung(1)	1						GAATCTTATTCGCATAATACC	0.443000													5	78					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581569	140581569	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:140581569G>A	ENST00000354757.3	+	1	2222	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G376D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		741					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGTGAGCGGCACCGGGACC	0.597000													111	133					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088239	43088239	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:43088239G>C	ENST00000359467.3	-	5	2273	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	720						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACACTGACAAGATTTCTCTCC	0.418000													45	61					0	0	1	0	0
VCX3A	51481	broad.mit.edu	37	X	6451816	6451816	+	Silent	SNP	C	C	T	rs140689741	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:6451816C>T	ENST00000381089.3	-	3	837	c.531G>A	c.(529-531)gaG>gaA	p.E177E	VCX3A_ENST00000398729.1_Silent_p.E157E	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	177	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						CCATCTCGCTCTCCTGACTCA	0.587000													79	114					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658822	146658822	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:146658822T>C	ENST00000254090.4	-	9	1647	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C	FMO5_ENST00000369272.3_3'UTR|FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	420						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GCTCTCCACATACCTAAAGTA	0.468000													25	24					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608502	145608502	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:145608502G>A	ENST00000334163.3	-	3	465	c.305C>T	c.(304-306)aCt>aTt	p.T102I	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.T102I	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	102					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CAGCTCTCCAGTGTCACTGTA	0.498000													51	58					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50550254	50550254	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:50550254C>T	ENST00000595661.1	+	6	3049	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R852W|ZNF473_ENST00000270617.3_Missense_Mutation_p.R852W|ZNF473_ENST00000445728.3_Missense_Mutation_p.R840W			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	852					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAAGCCTTTCGGTGCCACTC	0.537000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	40					0	0	1	0	0
MEIG1	644890	broad.mit.edu	37	10	15008583	15008583	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:15008583G>A	ENST00000407572.1	+	2	264	c.116G>A	c.(115-117)aGa>aAa	p.R39K	MEIG1_ENST00000378240.1_Missense_Mutation_p.R39K	NM_001080836.2	NP_001074305.1	Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	39										kidney(1)|ovary(1)|prostate(1)	3						ACCGAATATAGACAAGTGAAA	0.343000													30	40					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186330825	186330825	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:186330825G>A	ENST00000367478.4	-	9	1183	c.887C>T	c.(886-888)tCa>tTa	p.S296L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTGCTTCTGAGTCATCAGC	0.378000			T	NTRK1	papillary thyroid								35	46					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059625	13059625	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:13059625A>G	ENST00000586534.1	+	5	659	c.598A>G	c.(598-600)Acg>Gcg	p.T200A	RAD23A_ENST00000316856.3_Missense_Mutation_p.T200A|RAD23A_ENST00000592268.1_Missense_Mutation_p.T200A|RAD23A_ENST00000541222.1_Missense_Mutation_p.T35A|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	200	UBA 1.		T -> M (in dbSNP:rs4987202).		interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GTATCTGCTCACGGTGAGGTG	0.647000								Nucleotide excision repair (NER)					71	85					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412850	77412850	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:77412850G>A	ENST00000308488.6	-	6	1726	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	RSF1_ENST00000360355.2_Missense_Mutation_p.S444F|RSF1_ENST00000480887.1_Missense_Mutation_p.S223F			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	475			S -> P (in dbSNP:rs7950873).		CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTGTCCTTAGAGGGGCTATA	0.393000													45	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425870	179425870	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:179425870C>T	ENST00000589042.1	-	326	85213	c.84989G>A	c.(84988-84990)aGg>aAg	p.R28330K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19390K|TTN_ENST00000460472.2_Missense_Mutation_p.R19265K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25762K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19457K|TTN_ENST00000591111.1_Missense_Mutation_p.R26689K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26689	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAGCATTCCTTGCAAAAAC	0.408000													49	63					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151303	73151303	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:73151303G>A	ENST00000222800.3	-	5	840	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Silent_p.L200L|ABHD11_ENST00000437775.2_Silent_p.L250L	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	257							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGTTGGCCCGAGGTAGGACT	0.582000													108	122					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163575	141163575	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:141163575C>G	ENST00000514251.1	+	4	2624	c.2345C>G	c.(2344-2346)tCa>tGa	p.S782*	ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.S782*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.S783*			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	782					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAACTACATCACATACCAGG	0.438000													21	38					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454979	29454979	+	Silent	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr22:29454979G>T	ENST00000216071.4	-	3	675	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	208										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CCTCTGTGGGGAGACCATGGA	0.592000													42	71					1.96642e-18	2.14694e-18	1	1	0
WDR59	79726	broad.mit.edu	37	16	74955920	74955920	+	Silent	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:74955920A>G	ENST00000262144.6	-	10	941	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	271										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGGGTGTTCAAGTCAAAGACA	0.552000													17	46					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42025319	42025319	+	Splice_Site	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:42025319A>G	ENST00000264451.7	+	6	708	c.528A>G	c.(526-528)aaA>aaG	p.K176K		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATGCACAGATCTTTGGAAG	0.338000													17	78					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			34	6					4.31634e-10	4.56298e-10	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12855886	12855886	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:12855886T>C	ENST00000332296.7	+	4	1269	c.1166T>C	c.(1165-1167)aTg>aCg	p.M389T	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.M144T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	389										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATTGCATGTCTATTGAC	0.562000													8	167					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611597	17611597	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:17611597T>A	ENST00000381869.3	-	2	2193	c.1720A>T	c.(1720-1722)Aca>Tca	p.T574S	MTUS1_ENST00000262102.6_Missense_Mutation_p.T574S|MTUS1_ENST00000381862.3_Missense_Mutation_p.T574S|MTUS1_ENST00000519263.1_Missense_Mutation_p.T574S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	574						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCTTATGTGTCTTGTTAATT	0.388000													67	145					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78799306	78799306	+	Silent	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:78799306C>G	ENST00000286627.5	-	15	2791	c.1839G>C	c.(1837-1839)ctG>ctC	p.L613L	KCNMA1_ENST00000286628.8_Silent_p.L613L|KCNMA1_ENST00000404771.3_Silent_p.L613L|KCNMA1_ENST00000372443.1_Silent_p.L613L|KCNMA1_ENST00000354353.5_Silent_p.L613L|KCNMA1_ENST00000406533.3_Silent_p.L613L|KCNMA1_ENST00000372440.1_Silent_p.L613L|KCNMA1_ENST00000404857.1_Silent_p.L613L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	613	Segment S8.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAGGGAAGGACAGACCCACGA	0.458000													11	21					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912534	170912534	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:170912534C>A	ENST00000361618.3	-	3	1532	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V306F	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	409						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGGTATTAGACATGGCTTTCG	0.473000													33	62					1.57351e-24	1.76424e-24	1	1	0
KLF4	9314	broad.mit.edu	37	9	110250469	110250469	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr9:110250469G>C	ENST00000374672.4	-	3	679	c.206C>G	c.(205-207)aCc>aGc	p.T69S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	69					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGTGGCCACGGTCGCCGCCGC	0.701000													4	34					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333305	54333305	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:54333305C>G	ENST00000243056.3	+	1	771	c.615C>G	c.(613-615)caC>caG	p.H205Q	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	205						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						AGCCGCGTCACGACGCCCTCA	0.672000			T	NUP98	AML								10	21					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37163777	37163777	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr20:37163777G>A	ENST00000262879.6	+	16	2590	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	RALGAPB_ENST00000397040.1_Missense_Mutation_p.R769K|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R765K|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R547K			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	769					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCACCCAAAGACTCAACTCC	0.498000													98	111					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186583280	186583280	+	Silent	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:186583280G>C	ENST00000431808.1	-	6	635	c.72C>G	c.(70-72)gtC>gtG	p.V24V	SORBS2_ENST00000437304.2_Silent_p.V203V|SORBS2_ENST00000449407.2_Silent_p.V110V|SORBS2_ENST00000448662.2_Silent_p.V93V|SORBS2_ENST00000319471.9_Silent_p.V110V|SORBS2_ENST00000284776.7_Silent_p.V24V|SORBS2_ENST00000393528.3_Silent_p.V70V|SORBS2_ENST00000355634.5_Silent_p.V124V			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	24						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CGTGCTGCATGACAATGCTGG	0.512000													6	38					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48837376	48837376	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:48837376C>G	ENST00000293261.3	-	7	1370	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	TMEM143_ENST00000377431.2_Missense_Mutation_p.E252Q|TMEM143_ENST00000541566.1_Missense_Mutation_p.E242Q|TMEM143_ENST00000436660.2_Missense_Mutation_p.E287Q|TMEM143_ENST00000435956.3_Missense_Mutation_p.E317Q	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	352						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CTGAGCAGCTCCGAGTTGTTG	0.701000											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861766	52861766	+	Silent	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:52861766A>G	ENST00000343457.3	-	4	1428	c.1422T>C	c.(1420-1422)acT>acC	p.T474T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	474						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCTTCCCAGAGTTCTATCAG	0.547000													55	58					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55857972	55857972	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:55857972G>C	ENST00000255613.3	+	8	1060	c.812G>C	c.(811-813)gGc>gCc	p.G271A		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTGCAGCAAGGCCTGGACAGT	0.701000													4	6					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55753534	55753534	+	Splice_Site	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:55753534C>T	ENST00000412770.2	-	7	1411	c.845G>A	c.(844-846)aGg>aAg	p.R282K	PPP6R1_ENST00000587283.1_Splice_Site_p.R282K	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	282	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TATCCCTCACCTCGGCCTCCT	0.642000													80	95					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24167527	24167527	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:24167527A>G	ENST00000382263.3	+	3	297	c.113A>G	c.(112-114)gAa>gGa	p.E38G	TNFRSF19_ENST00000464735.1_3'UTR|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E38G|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E38G|TNFRSF19_ENST00000403372.2_Intron	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	38					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGACAGCAAGAATTCAGGGAT	0.373000													4	86					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076622	134076622	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:134076622G>A	ENST00000534548.2	-	8	952	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	296					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACACAACTGATGACCTAGA	0.408000													40	40					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389969	64389969	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:64389969G>A	ENST00000262043.3	+	3	653	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PHF3_ENST00000393387.1_Missense_Mutation_p.E105K|PHF3_ENST00000509330.1_Missense_Mutation_p.E105K			Q92576	PHF3_HUMAN	PHD finger protein 3	105					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CATTGATGAAGAAGAACTGAT	0.343000													53	73					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121527763	121527763	+	Splice_Site	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:121527763C>T	ENST00000310864.6	-	6	701	c.487G>A	c.(487-489)Gta>Ata	p.V163I	IQCB1_ENST00000349820.6_Splice_Site_p.V163I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	163					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTTCTCTTACCATTCTGAATA	0.348000													9	15					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99344623	99344623	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:99344623G>T	ENST00000370646.4	+	1	524	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	PI4K2A_ENST00000370649.3_Missense_Mutation_p.G55W|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G55W|HOGA1_ENST00000370647.4_Missense_Mutation_p.G55W	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GGTGGACTATGGGAAACTGGA	0.602000													40	59					1.15183e-24	1.29581e-24	1	1	0
NLRC5	84166	broad.mit.edu	37	16	57115511	57115511	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:57115511C>T	ENST00000262510.6	+	48	5703	c.5478C>T	c.(5476-5478)atC>atT	p.I1826I	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.I1797I|NLRC5_ENST00000539144.1_Silent_p.I1797I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1826					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGTCTAGCATCCAAGTCATCC	0.622000													62	126					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684225	109684225	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:109684225C>T	ENST00000338432.7	+	39	5662	c.5543C>T	c.(5542-5544)gCt>gTt	p.A1848V	ACACB_ENST00000543201.1_Missense_Mutation_p.A514V|ACACB_ENST00000377848.3_Missense_Mutation_p.A1848V|ACACB_ENST00000377854.5_Missense_Mutation_p.A1778V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1848	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTCCACGTGGCTTGGGTGGAC	0.557000													8	78					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162174	194162174	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:194162174C>T	ENST00000439040.1	-	16	2367	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E526K			Q9H7F0	AT133_HUMAN	ATPase type 13A3	526					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CACACATTTTCTTCTGGTGAA	0.348000													22	25					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53531256	53531256	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:53531256A>G	ENST00000288139.4	+	2	263	c.145A>G	c.(145-147)Act>Gct	p.T49A	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T49A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.T49A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCCAAGCAAACTGTCCTGTC	0.522000													44	48					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45748428	45748428	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr22:45748428T>C	ENST00000357450.4	-	22	3327	c.3328A>G	c.(3328-3330)Aac>Gac	p.N1110D	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1110					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCACACAGTTATAGCTAATT	0.453000													39	39					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877424	39877424	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:39877424C>T	ENST00000530275.1	+	1	1274	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	360										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGGCTGGCTGCATCCCAG	0.408000													29	39					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364437	79364437	+	RNA	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:79364437G>A	ENST00000444841.1	-	0	197																											AGCTGATCTGGGCCTTGGGCA	0.507000													5	35					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25174414	25174414	+	Missense_Mutation	SNP	T	T	C	rs151115206	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:25174414T>C	ENST00000264711.2	-	6	727	c.538A>G	c.(538-540)Ata>Gta	p.I180V	DNAJC27_ENST00000534855.1_Missense_Mutation_p.I109V	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	180					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACTATGGATATATAAAAGGTC	0.353000													21	28					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220929	155220929	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:155220929G>C	ENST00000361361.2	-	8	1430	c.921C>G	c.(919-921)caC>caG	p.H307Q	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.H289Q|FAM189B_ENST00000350210.2_Missense_Mutation_p.H211Q	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	307						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGAGCCATCGTGAAGCTGAG	0.587000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	20					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547114	132547114	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:132547114G>A	ENST00000333577.4	+	48	8419	c.8310G>A	c.(8308-8310)caG>caA	p.Q2770Q	EP400_ENST00000389562.2_Silent_p.Q2733Q|EP400_ENST00000389561.2_Silent_p.Q2734Q|EP400_ENST00000332482.4_Silent_p.Q2697Q|EP400_ENST00000330386.6_Silent_p.Q2653Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2770	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597000													18	67					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652416	69652416	+	Silent	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:69652416T>G	ENST00000435070.2	+	6	851	c.741T>G	c.(739-741)ccT>ccG	p.P247P	CPSF6_ENST00000266679.8_Silent_p.P284P|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	247	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CAGGCCCACCTGGTCCACCAG	0.512000													4	104					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273454	162273454	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:162273454A>G	ENST00000389554.3	+	1	850	c.533A>G	c.(532-534)cAg>cGg	p.Q178R		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCTACCCACAGCAGTACGGC	0.637000													61	114					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103405960	103405960	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:103405960T>C	ENST00000358392.2	-	43	3660	c.3343A>G	c.(3343-3345)Aga>Gga	p.R1115G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R987G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1103G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1064G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1103	Triple-helical region.		Missing (in STL2).		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)		ACTCCATCTCTCCCTGCAGGC	0.478000													3	45					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56128100	56128100	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:56128100A>G	ENST00000275603.4	+	10	1423	c.1204A>G	c.(1204-1206)Att>Gtt	p.I402V	CCT6A_ENST00000335503.3_Missense_Mutation_p.I357V|CCT6A_ENST00000540286.1_Missense_Mutation_p.I371V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	402					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAAAATGCTATTGATGATGG	0.403000													25	30					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53379250	53379250	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:53379250G>A	ENST00000229416.6	-	5	1089	c.606C>T	c.(604-606)gtC>gtT	p.V202V	GCLC_ENST00000514004.1_Silent_p.V202V	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	202					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GTACATTGATGACAACCTTTT	0.373000													42	41					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167742493	167742493	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:167742493G>A	ENST00000359523.2	+	4	695	c.493G>A	c.(493-495)Gtt>Att	p.V165I	MPZL1_ENST00000474859.1_Missense_Mutation_p.V165I|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	165					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TGTGTTTCCAGTTTGGGTAGT	0.398000													39	61					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115351978	115351978	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:115351978C>T	ENST00000369358.4	-	39	4887	c.4643G>A	c.(4642-4644)cGg>cAg	p.R1548Q	NRAP_ENST00000360478.3_Missense_Mutation_p.R1505Q|NRAP_ENST00000369360.3_Missense_Mutation_p.R1513Q|NRAP_ENST00000359988.3_Missense_Mutation_p.R1540Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1540						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTAGATGCCCGGGCAGTCTG	0.507000													20	35					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092781	79092781	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr15:79092781C>T	ENST00000388820.4	-	2	419	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	70					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGATACATCCCGCTTGCGCAG	0.687000													10	18					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732222	61732222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:61732222C>A	ENST00000273550.7	-	4	763	c.529G>T	c.(529-531)Gga>Tga	p.G177*	FTH1_ENST00000532601.1_Nonsense_Mutation_p.G107*|FTH1_ENST00000526640.1_Nonsense_Mutation_p.G147*|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	177				LGDSDNES -> WETVIMKAKPRANFP (in Ref. 1; CAA25086).	cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCACTGTCTCCCAGGGTGTGC	0.532000													4	55					0.150653	0.150653	1	1	0
OMP	4975	broad.mit.edu	37	11	76814244	76814244	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:76814244C>T	ENST00000529803.1	+	1	359	c.359C>T	c.(358-360)gCc>gTc	p.A120V	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	120					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGAATGAGGCCGACGCCCTG	0.617000													42	37					0	0	1	0	0
RAB3B	5865	broad.mit.edu	37	1	52442749	52442749	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:52442749G>A	ENST00000371655.3	-	2	253	c.41C>T	c.(40-42)gCc>gTc	p.A14V		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	14					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						CTGGTCAGAGGCATCTTTGAC	0.473000													33	51					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142430803	142430803	+	Missense_Mutation	SNP	C	C	T	rs149708405		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:142430803C>T	ENST00000337777.3	+	16	2057	c.1844C>T	c.(1843-1845)aCg>aTg	p.T615M	PLS1_ENST00000497002.1_Missense_Mutation_p.T615M|PLS1_ENST00000457734.2_Missense_Mutation_p.T615M	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	615	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATGGTTATGACGGTGTTTGCA	0.388000													69	94					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113194054	113194054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:113194054C>T	ENST00000393020.1	+	3	508	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.Q35*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.Q35*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.Q35*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	35							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGTTGTGCAACAGAAAGCTGT	0.418000													12	67					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	97					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867635	150867635	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:150867635G>A	ENST00000243389.3	+	11	1474	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	SLC36A1_ENST00000520701.1_Silent_p.P417P	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	417					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCATCCCACCGCTCCTGGAGG	0.632000													25	30					0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76709821	76709821	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:76709821G>C	ENST00000532485.1	+	7	557	c.453G>C	c.(451-453)atG>atC	p.M151I	ACER3_ENST00000544113.1_Missense_Mutation_p.M18I|ACER3_ENST00000538157.1_Missense_Mutation_p.M109I|ACER3_ENST00000533873.1_Missense_Mutation_p.M114I|ACER3_ENST00000526597.1_Missense_Mutation_p.M56I	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	151					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TGTATGGAATGTTGGTCTTTA	0.348000													9	19					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10588574	10588574	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:10588574T>G	ENST00000381902.2	-	1	18	c.12A>C	c.(10-12)caA>caC	p.Q4H	KLRC2_ENST00000381901.1_Missense_Mutation_p.Q4H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.Q4H|KLRC2_ENST00000536833.2_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	4					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						AGGTTCCTCTTTGTTTATTCA	0.448000													13	224					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146653702	146653702	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:146653702C>G	ENST00000438731.1	+	6	599	c.599C>G	c.(598-600)cCa>cGa	p.P200R	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	200										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						CCCTCATCGCCATTTAACTGA	0.512000													8	21					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826227	51826227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:51826227C>T	ENST00000322475.8	+	3	859	c.724C>T	c.(724-726)Cga>Tga	p.R242*	FAM124A_ENST00000280057.6_Nonsense_Mutation_p.R278*	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	242										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCTGGAGTTCCGAGTGAGGGA	0.602000													17	73					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57928078	57928078	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:57928078G>A	ENST00000548249.1	-	6	788	c.521C>T	c.(520-522)gCt>gTt	p.A174V	DCTN2_ENST00000537439.1_Missense_Mutation_p.A151V|DCTN2_ENST00000543672.1_Missense_Mutation_p.A179V|DCTN2_ENST00000434715.3_Missense_Mutation_p.A179V	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	174					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TACCCACTTAGCCAGGGCGCC	0.567000													32	40					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284784	42284784	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:42284784G>T	ENST00000294964.5	+	7	1618	c.1438G>T	c.(1438-1440)Gtc>Ttc	p.V480F	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	480	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GAGCCAAGTGGTCCCTGATCC	0.567000													20	16					2.21704e-12	2.3587e-12	1	1	0
STAG1	10274	broad.mit.edu	37	3	136192388	136192388	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:136192388C>G	ENST00000383202.2	-	11	1374	c.1118G>C	c.(1117-1119)cGa>cCa	p.R373P	STAG1_ENST00000536929.1_5'UTR|STAG1_ENST00000434713.2_Missense_Mutation_p.R147P|STAG1_ENST00000236698.5_Missense_Mutation_p.R373P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	373	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TACCTTGAATCGGTTAGTGAA	0.338000													10	38					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647897	125647897	+	Splice_Site	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr11:125647897G>A	ENST00000358524.3	-	3	122	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	26						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						TATTTCAGTCGCTGCCAGATA	0.438000													10	41					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272307	164272307	+	Silent	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:164272307A>G	ENST00000515560.1	+	4	2404	c.882A>G	c.(880-882)gcA>gcG	p.A294A	NPY5R_ENST00000338566.3_Silent_p.A294A|NPY5R_ENST00000506953.1_Silent_p.A294A			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	294					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAGACAGCATGTGTGTTAC	0.423000													40	57					0	0	1	0	0
FOSB	2354	broad.mit.edu	37	19	45975945	45975945	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:45975945G>A	ENST00000353609.3	+	4	1284	c.692G>A	c.(691-693)gGg>gAg	p.G231E	FOSB_ENST00000592811.1_Missense_Mutation_p.G182E|FOSB_ENST00000443841.2_Missense_Mutation_p.G88E|FOSB_ENST00000591858.1_Missense_Mutation_p.G192E|FOSB_ENST00000585836.1_Missense_Mutation_p.G156E|FOSB_ENST00000586615.1_Missense_Mutation_p.G182E|FOSB_ENST00000417353.2_Missense_Mutation_p.G195E|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G231E	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	231					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GAGGGGCCCGGGCCGGGCCCG	0.667000													27	43					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30577698	30577698	+	Silent	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:30577698G>C	ENST00000376511.2	-	3	576	c.24C>G	c.(22-24)ccC>ccG	p.P8P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	8	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAAGTTCTTTGGGGTCTATGG	0.483000													27	22					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51981796	51981796	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:51981796G>A	ENST00000417220.2	+	11	1805	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	PARP3_ENST00000431474.1_Missense_Mutation_p.M439I|PARP3_ENST00000398755.3_Missense_Mutation_p.M446I|PARP3_ENST00000486510.1_3'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	439	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCGGCTACATGTTCCTGGGTG	0.612000													68	116					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26492010	26492010	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:26492010G>T	ENST00000265944.5	+	34	4870	c.4704G>T	c.(4702-4704)caG>caT	p.Q1568H	MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1568					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAACTCCAGAATCAATGTA	0.328000													21	31					1.55469e-16	1.67004e-16	1	1	0
TERF2IP	54386	broad.mit.edu	37	16	75690477	75690477	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:75690477G>T	ENST00000300086.4	+	3	1265	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	390					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGCTCAGAATGTAGCTCGGAG	0.373000													55	65					3.68337e-26	4.15784e-26	1	1	0
STPG1	90529	broad.mit.edu	37	1	24706212	24706212	+	Silent	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:24706212G>T	ENST00000374409.1	-	5	647	c.393C>A	c.(391-393)tcC>tcA	p.S131S	STPG1_ENST00000003583.8_Silent_p.S84S|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.S84S|STPG1_ENST00000337248.4_Silent_p.S131S	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GGAACATGCTGGAACACGAAT	0.413000													37	58					6.97489e-18	7.56559e-18	1	1	0
DLL1	28514	broad.mit.edu	37	6	170594771	170594771	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:170594771G>T	ENST00000366756.3	-	6	1081	c.748C>A	c.(748-750)Cag>Aag	p.Q250K		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	250	EGF-like 1.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACCGGCCCTGCCAGCCCACT	0.587000													6	102					0.00307968	0.00311712	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60485871	60485871	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:60485871C>T	ENST00000400324.4	-	20	2585	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	DIAPH3_ENST00000400330.1_Missense_Mutation_p.V789M|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V719M|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V789M|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V778M|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V743M	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	789	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTACCACAACCACAAAC	0.358000													13	25					0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618871	89618871	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:89618871G>A	ENST00000323061.5	-	1	515	c.35C>T	c.(34-36)cCt>cTt	p.P12L	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	12					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		cgccTGGCTAGGCTCCGCAGG	0.692000													24	24					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138248105	138248105	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:138248105A>C	ENST00000264982.3	-	10	1071	c.805T>G	c.(805-807)Tca>Gca	p.S269A	CEP70_ENST00000481834.1_Missense_Mutation_p.S269A|CEP70_ENST00000484888.1_Missense_Mutation_p.S269A|CEP70_ENST00000542237.1_Missense_Mutation_p.S249A|CEP70_ENST00000489254.1_Missense_Mutation_p.S117A	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	269					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTAGATTTTGATTCCTTGAGT	0.274000													22	22					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806828	15806828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:15806828C>T	ENST00000550308.1	+	10	1578	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	CYP4F12_ENST00000324632.10_Nonsense_Mutation_p.R400*	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTCATCTCCCGATGCTGCAC	0.612000													9	99					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242428744	242428744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:242428744G>A	ENST00000536534.2	-	4	743	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	PLD5_ENST00000427495.1_Missense_Mutation_p.R106C|PLD5_ENST00000442594.2_Missense_Mutation_p.R76C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCAAAAAGACGTTGACCCTGG	0.318000													11	15					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950716	77950716	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:77950716G>A	ENST00000393684.3	-	4	704	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	ISM2_ENST00000412904.1_Intron|ISM2_ENST00000342219.4_Silent_p.L193L|ISM2_ENST00000493585.1_Silent_p.L193L|ISM2_ENST00000429906.1_Silent_p.L112L			Q6H9L7	ISM2_HUMAN	isthmin 2	193						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AATTCTGGCAGCTTCTGCAGC	0.607000													57	77					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123122274	123122274	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr4:123122274C>T	ENST00000264501.4	+	15	1864	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	KIAA1109_ENST00000455637.1_Silent_p.F497F|KIAA1109_ENST00000388738.3_Silent_p.F497F|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	497					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAAAAACTTCTTTACAGGTA	0.343000													12	30					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34204152	34204152	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr20:34204152C>A	ENST00000374273.3	+	1	339	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	76					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCAGGAAGCTCTCAGCAGAAG	0.746000													12	13					1.08611e-07	1.13377e-07	1	1	0
PSMD2	5708	broad.mit.edu	37	3	184025724	184025724	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:184025724A>G	ENST00000310118.4	+	19	2903	c.2345A>G	c.(2344-2346)cAc>cGc	p.H782R	PSMD2_ENST00000435761.1_Missense_Mutation_p.H623R|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.H652R	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	782					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGCCCCTACCACAGCGACCGG	0.537000													10	82					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34142132	34142132	+	Silent	SNP	T	T	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr21:34142132T>G	ENST00000331923.4	-	2	654	c.465A>C	c.(463-465)tcA>tcC	p.S155S	PAXBP1_ENST00000290178.4_Silent_p.S155S|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TACTTTCAGCTGATGAGTTGA	0.308000													12	20					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440677	10440677	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:10440677G>T	ENST00000245503.5	-	16	2154	c.1770C>A	c.(1768-1770)gaC>gaA	p.D590E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D590E|MYH2_ENST00000532183.2_Missense_Mutation_p.D590E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	590	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAATGTTGTAGTCCACAACAC	0.532000													81	24					1.10345e-40	1.28031e-40	1	1	0
C10orf68	79741	broad.mit.edu	37	10	33134529	33134529	+	Silent	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr10:33134529C>A	ENST00000375030.2	+	16	1719	c.1101C>A	c.(1099-1101)acC>acA	p.T367T	C10orf68_ENST00000375028.3_Silent_p.T412T|C10orf68_ENST00000375025.4_Silent_p.T472T			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	408										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGGAGTCAACCACGACACAAT	0.308000													37	52					9.9191e-30	1.13899e-29	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17729718	17729718	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:17729718G>A	ENST00000428389.2	-	40	4589	c.4590C>T	c.(4588-4590)ctC>ctT	p.L1530L	UNC13A_ENST00000550896.1_Silent_p.L1415L|UNC13A_ENST00000551649.1_Silent_p.L1442L|UNC13A_ENST00000252773.7_Silent_p.L1442L|UNC13A_ENST00000519716.2_Silent_p.L1442L|UNC13A_ENST00000552293.1_Silent_p.L1417L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1442					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCTCACCTTGAGTTTGGACA	0.572000													40	70					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100180045	100180045	+	Silent	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:100180045C>T	ENST00000310300.6	-	2	310	c.258G>A	c.(256-258)gcG>gcA	p.A86A	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	86					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGGCACGCCGCCTCGGGCA	0.637000													24	34					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374810	27374810	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:27374810T>C	ENST00000395762.2	+	11	2396	c.2137T>C	c.(2137-2139)Tac>Cac	p.Y713H	IL4R_ENST00000543915.2_Missense_Mutation_p.Y713H|IL4R_ENST00000170630.2_Missense_Mutation_p.Y713H|IL4R_ENST00000380922.3_Missense_Mutation_p.Y698H	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	713					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGCATTGTCTACTCAGCCCT	0.622000													32	50					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54158975	54158975	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:54158975T>C	ENST00000404125.1	-	10	1368	c.1313A>G	c.(1312-1314)gAa>gGa	p.E438G	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	438					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACTTACCTTTCAAGTACAGG	0.458000													25	40					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537442	52537442	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr19:52537442T>C	ENST00000594154.1	-	5	1702	c.1490A>G	c.(1489-1491)aAt>aGt	p.N497S	ZNF432_ENST00000221315.5_Missense_Mutation_p.N497S			O94892	ZN432_HUMAN	zinc finger protein 432	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGTCCGCTATTCACAATGAA	0.428000													5	45					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67109434	67109434	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:67109434A>G	ENST00000284425.2	-	15	2144	c.1970T>C	c.(1969-1971)cTg>cCg	p.L657P		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	657	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACGCTCTCTCAGGAGGCTCCA	0.423000													58	13					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73136468	73136468	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:73136468C>T	ENST00000545377.1	+	11	1486	c.1310C>T	c.(1309-1311)gCa>gTa	p.A437V	ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A437V|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A124V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A437V|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A437V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A437V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A437V	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GAAGGGACAGCACACACTGAA	0.478000													16	23					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204022421	204022421	+	Splice_Site	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:204022421G>A	ENST00000449802.1	+	35	5833		c.e35-1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1								binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTTAAAACAGGTATCCAACA	0.323000													4	82					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797731	106797731	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:106797731C>T	ENST00000265717.4	+	10	1344	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	362					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AAACCTCGAGCAGCTTCTGCC	0.483000													22	29					0	0	1	0	0
MB21D1	115004	broad.mit.edu	37	6	74161858	74161858	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:74161858C>T	ENST00000370315.3	-	1	141	c.47G>A	c.(46-48)gGa>gAa	p.G16E	MB21D1_ENST00000370318.1_Missense_Mutation_p.G16E	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	16										central_nervous_system(1)|large_intestine(4)|lung(1)	6						GGCAGTGGCTCCGGCCTCGGA	0.657000													8	11					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34264791	34264791	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:34264791G>C	ENST00000585556.1	-	3	603	c.269C>G	c.(268-270)tCg>tGg	p.S90W	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Missense_Mutation_p.S90W|LYZL6_ENST00000394523.3_Missense_Mutation_p.S90W			O75951	LYZL6_HUMAN	lysozyme-like 6	90					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGTTTTCCGAGTAACTCTT	0.483000													37	75					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42837795	42837795	+	Silent	SNP	G	G	A	rs143579830		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:42837795G>A	ENST00000307602.4	+	14	1547	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	449					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGTCAGGAGTCTTCAGACA	0.383000			T	RET	papillary thyroid								31	40					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154471628	154471628	+	Silent	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:154471628G>A	ENST00000304760.2	-	2	764	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	226										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATGTAACCGTCGTTCTCTC	0.423000													12	78					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56785360	56785360	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:56785360C>A	ENST00000413728.2	-	5	1064	c.521G>T	c.(520-522)gGa>gTa	p.G174V	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.G200V|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.G168V|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.G139V|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.G174V|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.G168V	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	168	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GTCCAGTGTTCCAAAAATTTG	0.403000													13	21					0.00010058	0.000103056	1	1	0
EP400	57634	broad.mit.edu	37	12	132547111	132547111	+	Silent	SNP	G	G	A	rs142077620		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:132547111G>A	ENST00000333577.4	+	48	8416	c.8307G>A	c.(8305-8307)caG>caA	p.Q2769Q	EP400_ENST00000389562.2_Silent_p.Q2732Q|EP400_ENST00000389561.2_Silent_p.Q2733Q|EP400_ENST00000332482.4_Silent_p.Q2696Q|EP400_ENST00000330386.6_Silent_p.Q2652Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2769	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597000													15	73					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53634540	53634540	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chrX:53634540C>G	ENST00000342160.3	-	24	2897	c.2440G>C	c.(2440-2442)Gac>Cac	p.D814H	HUWE1_ENST00000218328.8_Missense_Mutation_p.D814H|HUWE1_ENST00000262854.6_Missense_Mutation_p.D814H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	814					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGGGAAAGTCAATGGGCAGA	0.443000													20	2					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803132	31803132	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr18:31803132G>A	ENST00000261592.5	-	1	383	c.86C>T	c.(85-87)aCc>aTc	p.T29I	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T29I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	29						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTTTTACGGGTCACCGTCTT	0.567000													29	52					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14960520	14960520	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr16:14960520G>C	ENST00000287667.7	+	15	1949	c.1778G>C	c.(1777-1779)aGa>aCa	p.R593T		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	593						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TACATGCTGAGATGTTCCCTG	0.498000													13	123					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968675	106968675	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:106968675G>A	ENST00000369066.3	+	2	2855	c.2368G>A	c.(2368-2370)Gtc>Atc	p.V790I		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	790							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAACAGAGCGTCCTCTTCAA	0.483000													23	27					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70904465	70904465	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:70904465G>C	ENST00000411986.2	+	10	1249	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q	CTH_ENST00000346806.2_Missense_Mutation_p.E339Q|CTH_ENST00000370938.3_Missense_Mutation_p.E383Q	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	383					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTTAGAGGATGAGGAAGACCT	0.423000													40	57					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49081924	49081924	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:49081924T>C	ENST00000395443.2	-	6	2157	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.N562S|QRICH1_ENST00000357496.2_Missense_Mutation_p.N562S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	562										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TACCCTTCCATTTTCAAAAAG	0.368000													68	69					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045304	142045304	+	RNA	SNP	G	G	C			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:142045304G>C	ENST00000390392.3	+	0	53																											GGAGACCAGAGCCCAGCACCT	0.582000													34	66					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48557062	48557062	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:48557062G>A	ENST00000258955.2	+	2	293	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	70					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGAGGAGGCTGCCATGCAGAA	0.607000											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	158	21					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191577	23191577	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:23191577G>A	ENST00000400191.3	+	5	1193	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	EPHB2_ENST00000374627.1_Missense_Mutation_p.R386H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R392H|EPHB2_ENST00000544305.1_Missense_Mutation_p.R392H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R392H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	392	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R392H(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGAGCCACGCATTTACATC	0.617000													4	110					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22408257	22408257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr1:22408257delC	ENST00000344548.3	+	4	399	c.148delC	c.(148-150)ccafs	p.P50fs	CDC42_ENST00000315554.8_Frame_Shift_Del_p.P50fs|CDC42_ENST00000400259.1_Frame_Shift_Del_p.P50fs|CDC42_ENST00000421089.2_Frame_Shift_Del_p.P92fs|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	50					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGGTGGAGAACCATATACTCT	0.353													26	51	---	---	---	---					
ITGB6	3694	broad.mit.edu	37	2	160998560	160998561	+	In_Frame_Ins	INS	-	-	CAGGAA			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr2:160998560_160998561insCAGGAA	ENST00000283249.2	-	8	1276_1277	c.1039_1040insTTCCTG	c.(1039-1041)gga>gTTCCTGga	p.346_347insVP	ITGB6_ENST00000409872.1_In_Frame_Ins_p.346_347insVP|ITGB6_ENST00000409967.2_In_Frame_Ins_p.346_347insVP|ITGB6_ENST00000428609.2_In_Frame_Ins_p.304_305insVP|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	346	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TACTGTAGCTCCAGGAATAAGT	0.401													9	18	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12188689	12188690	+	RNA	DEL	GT	GT	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:12188689_12188690delGT	ENST00000432424.2	+	0	856							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						CTGAAGAGGGgtgtgtgtgtgt	0.446													2	4	---	---	---	---					
PTPN23	25930	broad.mit.edu	37	3	47448043	47448054	+	In_Frame_Del	DEL	CAGAAGGACTGG	CAGAAGGACTGG	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:47448043_47448054delCAGAAGGACTGG	ENST00000265562.4	+	8	777_788	c.700_711delCAGAAGGACTGG	c.(700-711)cagaaggactggdel	p.QKDW234del	PTPN23_ENST00000431726.1_In_Frame_Del_p.QKDW108del	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	234	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCGGATCCAGAAGGACTGGAAGAAACTTG	0.623													19	41	---	---	---	---					
ACPP	55	broad.mit.edu	37	3	132071669	132071676	+	Splice_Site	DEL	TAAGTGAC	TAAGTGAC	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr3:132071669_132071676delTAAGTGAC	ENST00000336375.5	+	9	1058		c.e9+2		ACPP_ENST00000475741.1_Splice_Site|ACPP_ENST00000351273.7_Splice_Site	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGAGAAGGGGTAAGTGACTAAGTGCTTT	0.413													15	52	---	---	---	---					
IL31RA	133396	broad.mit.edu	37	5	55147449	55147455	+	Frame_Shift_Del	DEL	TCCGCAA	TCCGCAA	-	rs140079651	by1000genomes	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:55147449_55147455delTCCGCAA	ENST00000447346.2	+	1	116_122	c.51_57delTCCGCAA	c.(49-57)tgtccgcaafs	p.CPQ17fs	IL31RA_ENST00000359040.5_Frame_Shift_Del_p.CPQ17fs|IL31RA_ENST00000396836.2_Frame_Shift_Del_p.CPQ17fs|IL31RA_ENST00000396834.1_5'UTR	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	0					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				tctgtgaatgtccgcaaaacattgtga	0.425													27	105	---	---	---	---					
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													2	4	---	---	---	---					
RNF145	153830	broad.mit.edu	37	5	158630629	158630630	+	Frame_Shift_Ins	INS	-	-	T	rs114633421	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr5:158630629_158630630insT	ENST00000274542.2	-	2	106_107	c.80_81insA	c.(79-81)aacfs	p.N27fs	RNF145_ENST00000520638.1_Frame_Shift_Ins_p.N13fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.N16fs|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.N29fs|RNF145_ENST00000519865.1_5'UTR	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding	p.N27K(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCATGTTGttttttttttt	0.376													7	64	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74228432	74228440	+	In_Frame_Del	DEL	TAGACATCC	TAGACATCC	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr6:74228432_74228440delTAGACATCC	ENST00000316292.9	-	4	1744_1752	c.753_761delGGATGTCTA	c.(751-762)caggatgtctac>cac	p.251_254QDVY>H	EEF1A1_ENST00000309268.6_In_Frame_Del_p.251_254QDVY>H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_In_Frame_Del_p.251_254QDVY>H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	251						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCAATTTTGTAGACATCCTGGAGAGGCA	0.455											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	65	---	---	---	---					
ADAM22	53616	broad.mit.edu	37	7	87564353	87564365	+	Frame_Shift_Del	DEL	TGATGGAGCTAGA	TGATGGAGCTAGA	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr7:87564353_87564365delTGATGGAGCTAGA	ENST00000398204.4	+	2	421_433	c.98_110delTGATGGAGCTAGA	c.(97-111)ttgatggagctagagfs	p.LMELE33fs	ADAM22_ENST00000439864.1_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000398201.4_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000315984.7_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000398209.3_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000265727.7_Frame_Shift_Del_p.LMELE33fs	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	33					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GACGCCTCATTGATGGAGCTAGAGAAGAGGAAG	0.592													11	78	---	---	---	---					
PTK2	5747	broad.mit.edu	37	8	141669683	141669709	+	In_Frame_Del	DEL	TGCTGGAGGCTGGTCATGACATACTGC	TGCTGGAGGCTGGTCATGACATACTGC	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr8:141669683_141669709delTGCTGGAGGCTGGTCATGACATACTGC	ENST00000522684.1	-	32	3244_3270	c.3015_3041delGCAGTATGTCATGACCAGCCTCCAGCA	c.(3013-3042)cagcagtatgtcatgaccagcctccagcaa>caa	p.1005_1014QQYVMTSLQQ>Q	PTK2_ENST00000430260.2_In_Frame_Del_p.315_324QQYVMTSLQQ>Q|PTK2_ENST00000517887.1_In_Frame_Del_p.1049_1058QQYVMTSLQQ>Q|PTK2_ENST00000519419.1_In_Frame_Del_p.1049_1058QQYVMTSLQQ>Q|PTK2_ENST00000395218.2_In_Frame_Del_p.1018_1027QQYVMTSLQQ>Q|PTK2_ENST00000538769.1_In_Frame_Del_p.673_682QQYVMTSLQQ>Q|PTK2_ENST00000340930.3_In_Frame_Del_p.1018_1027QQYVMTSLQQ>Q|PTK2_ENST00000517712.1_In_Frame_Del_p.68_77QQYVMTSLQQ>Q|PTK2_ENST00000519465.1_In_Frame_Del_p.633_642QQYVMTSLQQ>Q|PTK2_ENST00000535192.1_In_Frame_Del_p.959_968QQYVMTSLQQ>Q|PTK2_ENST00000521059.1_In_Frame_Del_p.1005_1014QQYVMTSLQQ>Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	1005	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTTGTACTCTTGCTGGAGGCTGGTCATGACATACTGCTGGGCCAGTT	0.476													12	72	---	---	---	---					
ANKRD52	283373	broad.mit.edu	37	12	56637599	56637600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:56637599_56637600insA	ENST00000267116.7	-	27	3070_3071	c.2949_2950insT	c.(2947-2952)catgggfs	p.G984fs	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	984							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ACTGTGGCCCCATGACTCAGCA	0.559													2	4	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57496234	57496236	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:57496234_57496236delTCT	ENST00000300134.3	-	13	1674_1676	c.1349_1351delAGA	c.(1348-1353)aagatg>atg	p.K450del	STAT6_ENST00000454075.3_In_Frame_Del_p.K450del|STAT6_ENST00000538913.2_In_Frame_Del_p.K340del|STAT6_ENST00000556155.1_In_Frame_Del_p.K450del|STAT6_ENST00000537215.2_In_Frame_Del_p.K340del|STAT6_ENST00000543873.2_In_Frame_Del_p.K450del	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	450					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTTTCACACATCTTCTCCCAGGG	0.586													25	67	---	---	---	---					
TRHDE	29953	broad.mit.edu	37	12	72771813	72771814	+	In_Frame_Ins	INS	-	-	TCCGGGGAC			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr12:72771813_72771814insTCCGGGGAC	ENST00000261180.4	+	3	1188_1189	c.1092_1093insTCCGGGGAC	c.(1093-1095)tcc>TCCGGGGACtcc	p.365_365S>SGDS		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	365					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAGAAGAGGATCCGGGGACTA	0.332													23	46	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39432016	39432017	+	Frame_Shift_Ins	INS	-	-	GA	rs41286130	byFrequency	TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr13:39432016_39432017insGA	ENST00000280481.7	+	13	7277_7278	c.7061_7062insGA	c.(7060-7065)acgaaafs	p.K2355fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2355					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)		TTCTAGTTGACGAAAGCCATTG	0.401													30	52	---	---	---	---					
ARHGAP5	394	broad.mit.edu	37	14	32561088	32561091	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:32561088_32561091delCTGA	ENST00000345122.3	+	2	1528_1531	c.1213_1216delCTGA	c.(1213-1218)ctgagcfs	p.LS405fs	ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	405	FF 2.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTTGACCTCCTGAGCACTTTAGA	0.387													37	81	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061341	38061351	+	Frame_Shift_Del	DEL	GTTCTGCCAGC	GTTCTGCCAGC	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:38061341_38061351delGTTCTGCCAGC	ENST00000250448.2	-	2	699_709	c.638_648delGCTGGCAGAAC	c.(637-648)cgctggcagaacfs	p.RWQN213fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RWQN180fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	213					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGGATGGAGTTCTGCCAGCGCTGCTGGTT	0.616													35	64	---	---	---	---					
DCAF5	8816	broad.mit.edu	37	14	69522027	69522029	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr14:69522027_69522029delGAG	ENST00000341516.5	-	9	1521_1523	c.1374_1376delCTC	c.(1372-1377)gactca>gaa	p.458_459DS>E	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_In_Frame_Del_p.376_377DS>E|DCAF5_ENST00000557386.1_In_Frame_Del_p.457_458DS>E|DCAF5_ENST00000556847.1_In_Frame_Del_p.376_377DS>E	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	458						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CGAAGACTCTGAGTCAGTGTAGC	0.611													25	33	---	---	---	---					
HEXIM1	10614	broad.mit.edu	37	17	43226653	43226653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr17:43226653delC	ENST00000332499.2	+	1	1970	c.96delC	c.(94-96)cgcfs	p.R32fs		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	32					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCTGAGCGCCCCCCAGGCG	0.632											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	319	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-E7-A677-01A-11D-A30E-08	TCGA-E7-A677-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56353e31-fc6c-47ce-91a6-ef8e4be3e8ef	ad6a5ded-ca1f-4587-92c2-c44f11f8a06b	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													4	4	---	---	---	---					
