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
PLEKHA6	22874	broad.mit.edu	37	1	204226886	204226886	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:204226886G>A	ENST00000272203.3	-	9	1435	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PLEKHA6_ENST00000414478.1_Silent_p.S393S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	373	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGGAACAGATGCTCTCCGGCC	0.627000													7	24					0	0	0.001984	0	0
EVC2	132884	broad.mit.edu	37	4	5624563	5624563	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:5624563G>C	ENST00000310917.2	-	14	2693	c.1962C>G	c.(1960-1962)gaC>gaG	p.D654E	EVC2_ENST00000344408.5_Missense_Mutation_p.D734E|EVC2_ENST00000344938.1_Missense_Mutation_p.D734E	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	734						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTGAGATCGTCCAGGGCGG	0.647000													8	70					0	0	0.004482	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520795	175520795	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:175520795A>T	ENST00000454872.1	+	14	2320	c.2192A>T	c.(2191-2193)aAc>aTc	p.N731I		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	731					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTTTTCAGAAACATCCTCTAC	0.353000													4	19					0	0	0.000248	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416267	88416267	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:88416267A>C	ENST00000418378.1	-	4	638	c.67T>G	c.(67-69)Tta>Gta	p.L23V	SPARCL1_ENST00000503414.1_5'UTR|SPARCL1_ENST00000282470.6_Missense_Mutation_p.L23V	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	23					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TCAGATAATAATCTTGCATTT	0.343000													12	75					0	0	0.001368	0	0
ALOX15B	247	broad.mit.edu	37	17	7942489	7942489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7942489G>A	ENST00000380183.4	+	1	155	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	ALOX15B_ENST00000573359.1_Missense_Mutation_p.V6I|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V6I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.V6I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	6	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGTTCAGGGTCAGGGTGTC	0.667000													11	61					0	0	0.000978	0	0
EPHA7	2045	broad.mit.edu	37	6	93956528	93956528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:93956528G>A	ENST00000369303.4	-	15	2892	c.2708C>T	c.(2707-2709)cCc>cTc	p.P903L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	903			P -> S (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGTTCCCAGGGGAGTTTTCAG	0.398000													17	61					0	0	0.008871	0	0
NR5A2	2494	broad.mit.edu	37	1	200017919	200017919	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:200017919G>A	ENST00000367362.3	+	5	1329	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	NR5A2_ENST00000236914.3_Silent_p.R315R|NR5A2_ENST00000544748.1_Silent_p.R289R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	361	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGTGGGCCAGGAGTAGTATCT	0.433000													26	99					0	0	0.002096	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698008	64698008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:64698008C>T	ENST00000164133.2	+	8	1460	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	280					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTCCTGGTTCGCGTCCTGAT	0.607000													18	82					0	0	0.001523	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290867	20290867	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:20290867C>T	ENST00000377252.3	+	2	1117	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PLXDC2_ENST00000377242.3_Silent_p.F92F	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCAGAAGCTTCACAGACCTGC	0.468000													4	25					0	0	0.000248	0	0
MROH7	374977	broad.mit.edu	37	1	55144997	55144997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:55144997G>A	ENST00000414150.2	+	12	2389	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	MROH7_ENST00000421030.2_Missense_Mutation_p.G704E|MROH7_ENST00000454855.2_Missense_Mutation_p.G222E|MROH7_ENST00000395690.2_Missense_Mutation_p.G704E|MROH7_ENST00000339553.5_Missense_Mutation_p.G704E|MROH7_ENST00000409996.1_Missense_Mutation_p.G272E|MROH7_ENST00000545244.1_Missense_Mutation_p.G272E					maestro heat-like repeat family member 7																		GCCCTGGAAGGGCTGAAAGGC	0.592000													20	92					0	0	0.007413	0	0
COL4A5	1287	broad.mit.edu	37	X	107842027	107842027	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:107842027C>T	ENST00000328300.6	+	25	2119	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	COL4A5_ENST00000361603.2_Silent_p.F625F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	625	Triple-helical region.			FGPP -> LALQ (in Ref. 5; AAA99480).	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						CCCCTGGTTTCGGCCCTCCAG	0.512000									Alport syndrome with Diffuse Leiomyomatosis				28	30					0	0	0.004656	0	0
DMTF1	9988	broad.mit.edu	37	7	86794346	86794346	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86794346T>C	ENST00000394703.5	+	5	652	c.89T>C	c.(88-90)aTt>aCt	p.I30T	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.I30T|DMTF1_ENST00000411766.2_Missense_Mutation_p.I30T|DMTF1_ENST00000331242.7_Missense_Mutation_p.I30T|DMTF1_ENST00000394702.3_Missense_Mutation_p.I30T|DMTF1_ENST00000432937.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	30	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GGGAATCTCATTCTTCACTGC	0.413000													9	28					0	0	0.004482	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3447553	3447553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:3447553C>T	ENST00000324266.5	+	6	1616	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.S474F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	474							binding										ATTCCAGGCTCCATGGTCCCC	0.547000													5	30					0	0	0.000602	0	0
NME8	51314	broad.mit.edu	37	7	37927934	37927934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:37927934G>A	ENST00000199447.4	+	15	1675	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D435N	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	435	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTATGGCAGCGATTCATTAGA	0.393000													11	37					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179442511	179442511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179442511C>T	ENST00000589042.1	-	323	68866	c.68642G>A	c.(68641-68643)cGa>cAa	p.R22881Q	TTN_ENST00000342175.6_Missense_Mutation_p.R14008Q|TTN_ENST00000359218.5_Missense_Mutation_p.R13941Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21240Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13816Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20313Q|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21240	Fibronectin type-III 66.						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)			AGGTAGATCTCGCTTCTCCAC	0.398000													10	60					0	0	0.000978	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380249	6380249	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:6380249G>A	ENST00000335585.5	-	3	242	c.219C>T	c.(217-219)ttC>ttT	p.F73F	PPP2R2C_ENST00000507294.1_Silent_p.F66F|PPP2R2C_ENST00000515571.1_Silent_p.F56F|PPP2R2C_ENST00000382599.4_Silent_p.F73F|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Silent_p.F66F	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	73					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CGTGGCTCTGGAAAGTGCTGT	0.577000													33	91					0	0	0.003271	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368845	86368845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:86368845G>A	ENST00000400286.2	-	2	2397	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	600						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTCCGTAAGAGATCGTAAAAT	0.418000													12	53					0	0	0.001855	0	0
KIF1B	23095	broad.mit.edu	37	1	10342482	10342482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:10342482C>T	ENST00000377086.1	+	15	1527	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	KIF1B_ENST00000263934.6_Missense_Mutation_p.S396F|KIF1B_ENST00000377083.1_Missense_Mutation_p.S396F|KIF1B_ENST00000377081.1_Missense_Mutation_p.S442F|KIF1B_ENST00000377093.4_Missense_Mutation_p.S396F			O60333	KIF1B_HUMAN	kinesin family member 1B	442					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTCACTTCATCCCCATCTTCC	0.478000													11	55					0	0	0.000978	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757128	110757128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:110757128C>T	ENST00000368919.3	-	6	1414	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	SLC22A16_ENST00000439654.1_Missense_Mutation_p.G450R|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G416R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	450					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCAAATTTTCCAACCATAGCT	0.348000													11	37					0	0	0.000978	0	0
FXYD5	53827	broad.mit.edu	37	19	35657309	35657309	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:35657309T>C	ENST00000543307.1	+	8	648	c.568T>C	c.(568-570)Tgg>Cgg	p.W190R	FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000588699.1_Missense_Mutation_p.W190R			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAAAGGTCCCTGGGCAATTTT	0.453000													5	35					0	0	0.000602	0	0
NPHP4	261734	broad.mit.edu	37	1	5927849	5927849	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:5927849G>A	ENST00000378156.4	-	24	3688	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1141					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGAAGGAGAGCTCCGGGT	0.637000													14	59					0	0	0.002450	0	0
RLF	6018	broad.mit.edu	37	1	40705609	40705609	+	Silent	SNP	C	C	T	rs138324360	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:40705609C>T	ENST00000372771.4	+	8	5262	c.5235C>T	c.(5233-5235)gtC>gtT	p.V1745V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1745					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAACCCATGTCCCAAAAGAGA	0.378000													9	31					0	0	0.004482	0	0
NBAS	51594	broad.mit.edu	37	2	15448367	15448367	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:15448367G>A	ENST00000281513.5	-	40	4795	c.4770C>T	c.(4768-4770)ttC>ttT	p.F1590F	NBAS_ENST00000441750.1_Silent_p.F1470F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1590										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTTGTCCCTGAAACATGGGG	0.453000													25	73					0	0	0.007291	0	0
C12orf54	121273	broad.mit.edu	37	12	48880471	48880471	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:48880471G>A	ENST00000314014.2	+	4	228	c.96_splice	c.e4-1	p.E33_splice	C12orf54_ENST00000548364.1_Splice_Site_p.E33_splice|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	33										endometrium(1)|large_intestine(4)	5						ATTTCTACAGGAAAAACAGGT	0.438000													3	13					0	0	0.000248	0	0
SEPT11	55752	broad.mit.edu	37	4	77941690	77941690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77941690C>T	ENST00000264893.6	+	7	1021	c.820C>T	c.(820-822)Cga>Tga	p.R274*	SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R284*|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R274*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R274*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R284*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	274					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.R274*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGTGAAACTTCGAGAGATGCT	0.473000													10	45					0	0	0.008291	0	0
FAM131A	131408	broad.mit.edu	37	3	184062653	184062653	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:184062653C>T	ENST00000310585.4	+	3	2267	c.903C>T	c.(901-903)tgC>tgT	p.C301C	FAM131A_ENST00000453072.1_Silent_p.C247C|FAM131A_ENST00000340957.5_Silent_p.C247C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Silent_p.C332C|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Silent_p.C247C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	301						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCACTCTGCCCACCACTAA	0.642000													10	33					0	0	0.008291	0	0
IQSEC3	440073	broad.mit.edu	37	12	274620	274620	+	Silent	SNP	G	G	A	rs144152224		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:274620G>A	ENST00000538872.1	+	10	2848	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	IQSEC3_ENST00000326261.4_Silent_p.K910K|IQSEC3_ENST00000382841.2_Silent_p.K607K|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	910	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTTGCCCGAAGAAGAAGAGCT	0.522000													36	134					0	0	0.007835	0	0
USP26	83844	broad.mit.edu	37	X	132160265	132160265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:132160265C>T	ENST00000511190.1	-	6	2453	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	USP26_ENST00000370832.1_Missense_Mutation_p.E662K|USP26_ENST00000406273.1_Missense_Mutation_p.E662K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	662					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAGGTATCTTCCAGATACGTC	0.428000													15	21					0	0	0.004990	0	0
ZNF831	128611	broad.mit.edu	37	20	57828989	57828989	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57828989A>G	ENST00000371030.2	+	5	4225	c.4225A>G	c.(4225-4227)Act>Gct	p.T1409A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1409						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGTGACTGTACTACTCACAG	0.473000													16	105					0	0	0.006122	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	126					0	0	0.000602	0	0
NRXN3	9369	broad.mit.edu	37	14	79270139	79270139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:79270139G>A	ENST00000554719.1	+	6	1593	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	NRXN3_ENST00000335750.5_Missense_Mutation_p.G368R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	146					angiogenesis|cell adhesion	integral to membrane		p.G368R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTGGATGGGGGGCGTGTCAA	0.537000													4	37					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179440423	179440423	+	Missense_Mutation	SNP	C	C	T	rs140127488	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179440423C>T	ENST00000589042.1	-	326	70660	c.70436G>A	c.(70435-70437)cGg>cAg	p.R23479Q	TTN_ENST00000342175.6_Missense_Mutation_p.R14606Q|TTN_ENST00000359218.5_Missense_Mutation_p.R14539Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21838Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14414Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20911Q|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21838	Ig-like 119.						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)			ATAAGATTTCCGTGTTGCTTC	0.453000													20	73					0	0	0.007413	0	0
MYOCD	93649	broad.mit.edu	37	17	12626207	12626207	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:12626207G>A	ENST00000425538.1	+	5	497	c.297G>A	c.(295-297)ctG>ctA	p.L99L	MYOCD_ENST00000343344.4_Silent_p.L99L|MYOCD_ENST00000395988.1_Silent_p.L3L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	99					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGATGAAGCTGAAAAGAGCCC	0.458000													31	119					0	0	0.008361	0	0
KATNB1	10300	broad.mit.edu	37	16	57778395	57778395	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57778395C>T	ENST00000379661.3	+	4	653	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	87	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGGGCTCCATCCGTGTCTGGG	0.622000													10	84					0	0	0.008291	0	0
OR1N2	138882	broad.mit.edu	37	9	125315479	125315479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:125315479G>A	ENST00000373688.2	+	1	89	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGATCACACGAACTACAAGG	0.453000													18	42					0	0	0.004990	0	0
CNBD1	168975	broad.mit.edu	37	8	88249161	88249161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:88249161G>A	ENST00000518476.1	+	6	643	c.592G>A	c.(592-594)Gga>Aga	p.G198R	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	198										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGCAAATGATGGATTTTATGT	0.348000													20	63					0	0	0.001882	0	0
KRT39	390792	broad.mit.edu	37	17	39118439	39118439	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39118439A>G	ENST00000355612.2	-	5	1006	c.971T>C	c.(970-972)gTt>gCt	p.V324A	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	324	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCAGTTCAACCTCCAGAGT	0.498000													32	215					0	0	0.002836	0	0
QRICH2	84074	broad.mit.edu	37	17	74288612	74288612	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:74288612T>C	ENST00000262765.5	-	4	1877	c.1698A>G	c.(1696-1698)caA>caG	p.Q566Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	566	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTACTCCAGGTTGGACCAAAC	0.532000													11	51					0	0	0.000978	0	0
SIK3	23387	broad.mit.edu	37	11	116732561	116732561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:116732561G>A	ENST00000375300.1	-	17	2172	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*	SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q665*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q723*|SIK3_ENST00000375288.1_Silent_p.S96S|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q665*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q564*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	665	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATACCTCTGGAGCTGATGG	0.488000											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	36	220					0	0	0.005524	0	0
SARDH	1757	broad.mit.edu	37	9	136550345	136550345	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:136550345G>A	ENST00000371872.4	-	17	2390	c.2133C>T	c.(2131-2133)acC>acT	p.T711T	SARDH_ENST00000422262.2_Silent_p.T543T|SARDH_ENST00000439388.1_Silent_p.T711T|SARDH_ENST00000371868.1_Silent_p.T139T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	711					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTAGCTTGTGGGTGGAGAACG	0.637000													8	36					0	0	0.006214	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511487	58511487	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:58511487G>A	ENST00000588627.1	-	0	1870																											CCAGGGGGCCGATCTTGGGGG	0.567000													8	13					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3228250	3228250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:3228250C>T	ENST00000217939.6	-	7	8148	c.7994G>A	c.(7993-7995)gGg>gAg	p.G2665E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2665	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACGTCCCTGCCCAGCCCCGGG	0.587000													27	37					0	0	0.008361	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001861	41001861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41001861C>T	ENST00000244565.3	-	3	533	c.445G>A	c.(445-447)Gac>Aac	p.D149N	UNC5CL_ENST00000373164.1_Missense_Mutation_p.D149N	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	149	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GATGGGGCGTCCGACAGGTCC	0.652000													10	35					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7620311	7620311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:7620311G>A	ENST00000486284.1	+	8	1992	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	GRM7_ENST00000402647.2_Missense_Mutation_p.R573Q|GRM7_ENST00000357716.4_Missense_Mutation_p.R573Q|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.R573Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R573Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AATGAAAATCGAACCGGATGC	0.527000													17	110					0	0	0.004990	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413501	61413501	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61413501A>G	ENST00000395348.3	-	5	1919	c.1283T>C	c.(1282-1284)tTa>tCa	p.L428S	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L428S	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	428					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCATGGGCTAATTTTTCAAT	0.403000													12	36					0	0	0.001368	0	0
OR8K3	219473	broad.mit.edu	37	11	56086497	56086497	+	Missense_Mutation	SNP	A	A	T	rs137986069		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56086497A>T	ENST00000312711.1	+	1	715	c.715A>T	c.(715-717)Acc>Tcc	p.T239S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGCTTTTTCTACCTGTGGAGC	0.428000													9	52					0	0	0.006214	0	0
DSC3	1825	broad.mit.edu	37	18	28602306	28602306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28602306C>T	ENST00000434452.1	-	7	1092	c.938G>A	c.(937-939)aGa>aAa	p.R313K	DSC3_ENST00000360428.4_Missense_Mutation_p.R313K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	313	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTACCTCTCTGTCCAAATA	0.433000													11	91					0	0	0.001368	0	0
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517000													30	135					0	0	0.004289	0	0
CSMD2	114784	broad.mit.edu	37	1	34285407	34285407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:34285407C>T	ENST00000373381.4	-	9	1407	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	371	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCATAGCCCTCGTTGCAGGTG	0.607000													4	43					0	0	0.000602	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073081	17073081	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:17073081C>T	ENST00000359963.3	-	1	619	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	120					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCAGCAGCTGCTCTGCCTGTT	0.652000													14	36					0	0	0.001855	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693150	208693150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:208693150G>A	ENST00000427836.2	-	8	2668	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	727					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTCTCGGCGAACACACCTC	0.507000													10	58					0	0	0.008291	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578788	44578788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:44578788G>A	ENST00000289547.4	-	2	1263	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P403L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P403L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P403L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	403					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGGAAGAAGGGGCCGAAATG	0.582000													19	121					0	0	0.001523	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520234	159520234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:159520234G>A	ENST00000456329.3	-	2	1457	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	PWWP2A_ENST00000307063.7_Missense_Mutation_p.R475C|PWWP2A_ENST00000523662.1_Missense_Mutation_p.R475C	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	475										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTTTAAACGAACCCGGGGT	0.458000													6	39					0	0	0.004482	0	0
ZNF445	353274	broad.mit.edu	37	3	44491977	44491977	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44491977T>C	ENST00000425708.2	-	5	1123	c.782A>G	c.(781-783)gAt>gGt	p.D261G	ZNF445_ENST00000396077.2_Missense_Mutation_p.D261G			P59923	ZN445_HUMAN	zinc finger protein 445	261	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CAGCATCACATCCCTGTACAG	0.483000													17	45					0	0	0.004007	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520796	175520796	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:175520796C>T	ENST00000454872.1	+	14	2321	c.2193C>T	c.(2191-2193)aaC>aaT	p.N731N		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	731					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTTTCAGAAACATCCTCTACC	0.358000													4	19					0	0	0.000248	0	0
ZNF445	353274	broad.mit.edu	37	3	44491978	44491978	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44491978C>A	ENST00000425708.2	-	5	1122	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	ZNF445_ENST00000396077.2_Missense_Mutation_p.D261Y			P59923	ZN445_HUMAN	zinc finger protein 445	261	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGCATCACATCCCTGTACAGG	0.478000													17	44					1.5739e-10	1.81241e-10	0.004007	1	0
HIST4H4	121504	broad.mit.edu	37	12	14923804	14923804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:14923804G>A	ENST00000539745.1	-	1	261	c.215C>T	c.(214-216)aCt>aTt	p.T72I		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CTCCGTGTAAGTCACCGCGTC	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	0.001368	0	0
PDK1	5163	broad.mit.edu	37	2	173460628	173460628	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:173460628C>T	ENST00000410055.1	+	11	1342	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	PDK1_ENST00000543905.1_Silent_p.N338N|PDK1_ENST00000544863.1_Silent_p.N259N|PDK1_ENST00000392571.2_Silent_p.N434N|PDK1_ENST00000282077.2_Silent_p.N414N	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	414					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ACAACACCAACCACGAGGCTG	0.468000									Autosomal Dominant Polycystic Kidney Disease				12	29					0	0	0.001368	0	0
PRSS1	5644	broad.mit.edu	37	7	142459787	142459787	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142459787C>T	ENST00000486171.1	+	4	422	c.405C>T	c.(403-405)gcC>gcT	p.A135A	PRSS1_ENST00000311737.7_Silent_p.A121A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	121	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TAATCAACGCCCGCGTGTCCA	0.577000													17	69					0	0	0.004990	0	0
WDR81	124997	broad.mit.edu	37	17	1631593	1631593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:1631593A>G	ENST00000409644.1	+	1	3340	c.3340A>G	c.(3340-3342)Acc>Gcc	p.T1114A	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.T63A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGAGCAGCACCAGCGAGAC	0.642000													14	76					0	0	0.004007	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116850	106116850	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:106116850C>T	ENST00000357242.5	+	21	3192	c.3018C>T	c.(3016-3018)gaC>gaT	p.D1006D	TBC1D8B_ENST00000276175.3_Silent_p.D1000D	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1006						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCATGAGGACCCTGAAGAAG	0.363000													12	38					0	0	0.000978	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:173552678G>A	ENST00000367714.3	-	6	1029	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R101W|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000													15	38					0	0	0.003163	0	0
UTRN	7402	broad.mit.edu	37	6	144844170	144844170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:144844170G>A	ENST00000367545.3	+	40	5752	c.5752G>A	c.(5752-5754)Gac>Aac	p.D1918N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1918					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACCAACTGGACAAACTTGG	0.358000													8	31					0	0	0.004482	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507419	74507419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:74507419C>T	ENST00000354431.4	-	7	1387	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R399Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	399										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCGCTCCAATCGTATGTCTTT	0.343000													17	53					0	0	0.004990	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249777	140249777	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140249777G>A	ENST00000398640.2	+	1	1089	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1												p.Q363H(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACGCTCAGCCCAGCACGG	0.582000													10	52					0	0	0.006214	0	0
SPP1	6696	broad.mit.edu	37	4	88903754	88903754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:88903754G>A	ENST00000237623.7	+	6	757	c.609G>A	c.(607-609)tgG>tgA	p.W203*	SPP1_ENST00000395080.3_Nonsense_Mutation_p.W217*|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Nonsense_Mutation_p.W190*	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	217					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CTTCTGATTGGGACAGCCGTG	0.532000													28	87					0	0	0.001786	0	0
SOAT2	8435	broad.mit.edu	37	12	53517624	53517624	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:53517624G>A	ENST00000301466.3	+	14	1545	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	495					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACTGCCAGGAGTGGTACGCAC	0.602000													11	41					0	0	0.008291	0	0
GRM3	2913	broad.mit.edu	37	7	86493639	86493639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86493639G>A	ENST00000361669.2	+	6	3707	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	GRM3_ENST00000536043.1_Missense_Mutation_p.E742K|GRM3_ENST00000546348.1_Missense_Mutation_p.E462K|GRM3_ENST00000394720.2_Missense_Mutation_p.G512E|GRM3_ENST00000439827.1_Missense_Mutation_p.G514E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	870					synaptic transmission	integral to plasma membrane		p.E870K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAATGGGCGGGAAGTCCTCGA	0.468000													20	95					0	0	0.004656	0	0
TOX4	9878	broad.mit.edu	37	14	21960465	21960465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:21960465G>A	ENST00000405508.1	+	7	1097	c.821G>A	c.(820-822)aGg>aAg	p.R274K	TOX4_ENST00000448790.2_Missense_Mutation_p.R251K|TOX4_ENST00000262709.3_Missense_Mutation_p.R274K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	274						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GTATATAAGAGGAAAACTGAG	0.358000													15	50					0	0	0.003163	0	0
TCN1	6947	broad.mit.edu	37	11	59626734	59626734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:59626734C>T	ENST00000257264.3	-	5	667	c.563G>A	c.(562-564)gGt>gAt	p.G188D	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	188					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCATTGCACCAGTATCTGT	0.448000													21	52					0	0	0.002780	0	0
ASTN1	460	broad.mit.edu	37	1	176838078	176838078	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:176838078C>T	ENST00000367654.2	-	22	3586	c.3573G>A	c.(3571-3573)ctG>ctA	p.L1191L	ASTN1_ENST00000361833.2_Silent_p.L1183L|ASTN1_ENST00000424564.2_Silent_p.L1183L|ASTN1_ENST00000367657.3_Silent_p.L1183L			O14525	ASTN1_HUMAN	astrotactin 1	1191					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGGGAACCCAGATCCAGGA	0.512000													19	67					0	0	0.001523	0	0
PDE12	201626	broad.mit.edu	37	3	57542496	57542496	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:57542496G>A	ENST00000311180.8	+	1	493	c.390G>A	c.(388-390)gaG>gaA	p.E130E	PDE12_ENST00000487257.1_Silent_p.E130E	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	130							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCGGGAAGAGGCAGTGGCTG	0.662000													12	51					0	0	0.003163	0	0
HOXC5	3222	broad.mit.edu	37	12	54427123	54427123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54427123C>T	ENST00000312492.2	+	1	487	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	73					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCACCCCGACCGCCCCGCCTG	0.687000													7	24					0	0	0.003080	0	0
PLAC1	10761	broad.mit.edu	37	X	133700464	133700464	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:133700464C>T	ENST00000359237.4	-	3	534	c.249G>A	c.(247-249)agG>agA	p.R83R	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	83					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CAGCTTTGGCCCTGATGCCAC	0.502000													38	48					0	0	0.006999	0	0
CFB	629	broad.mit.edu	37	6	31911216	31911216	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31911216G>A	ENST00000556679.1	+	9	1075	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	C2_ENST00000469372.1_Silent_p.R247R|C2_ENST00000299367.5_Silent_p.R493R|CFB_ENST00000456570.1_Silent_p.R340R|C2_ENST00000442278.2_Silent_p.R361R|CFB_ENST00000477310.1_Silent_p.R264R|C2_ENST00000452323.2_Silent_p.R279R			P00751	CFAB_HUMAN	complement factor B	512	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGACCTGCCGGGGGGCCCTCA	0.592000													66	283					0	0	0.003610	0	0
CLVS1	157807	broad.mit.edu	37	8	62212642	62212642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:62212642C>T	ENST00000519846.1	+	3	728	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	CLVS1_ENST00000325897.4_Missense_Mutation_p.H86Y|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	86					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGGAAGTTTCACCAAGCGGA	0.468000													8	36					0	0	0.003080	0	0
OR10J3	441911	broad.mit.edu	37	1	159284091	159284091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:159284091C>T	ENST00000332217.5	-	1	358	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGGTCATATCCCATGACTGT	0.517000													20	57					0	0	0.001523	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256196	58256196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:58256196G>A	ENST00000249750.4	-	9	1740	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R296C|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R229C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R287C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R304C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	325					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACGAAGATGCGAGAGCCTGCA	0.562000													15	46					0	0	0.003163	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708900	96708900	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96708900C>T	ENST00000260682.6	+	5	690	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	226					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGATTACTTCCCGGGAACTC	0.269000													9	44					0	0	0.004482	0	0
ZNF584	201514	broad.mit.edu	37	19	58921369	58921369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:58921369C>T	ENST00000306910.4	+	2	603	c.80C>T	c.(79-81)tCc>tTc	p.S27F	ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.S19F	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GTATATTTCTCCAGGGAGGAG	0.493000													20	60					0	0	0.002299	0	0
UPB1	51733	broad.mit.edu	37	22	24919732	24919732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:24919732G>A	ENST00000413389.2	+	9	2451	c.858G>A	c.(856-858)tgG>tgA	p.W286*	UPB1_ENST00000498140.1_3'UTR|UPB1_ENST00000326010.5_Nonsense_Mutation_p.W354*			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	354	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATGATGTCTGGAACTTCAAGG	0.597000													20	108					0	0	0.002780	0	0
MAP10	54627	broad.mit.edu	37	1	232940933	232940933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:232940933C>T	ENST00000418460.1	+	1	291	c.164C>T	c.(163-165)cCa>cTa	p.P55L		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TGTCTTTTACCACTTATATCC	0.378000													35	148					0	0	0.006230	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			34	103					0	0	0.002445	0	0
MIR518C	574477	broad.mit.edu	37	19	54212018	54212018	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:54212018G>A	ENST00000384822.1	+	0	30					NR_030199.1																						TGACTCTCTGGAGGGAAGCAC	0.408000													4	19					0	0	0.000602	0	0
MYH14	79784	broad.mit.edu	37	19	50796837	50796837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50796837G>A	ENST00000440075.2	+	39	5409	c.5362G>A	c.(5362-5364)Gag>Aag	p.E1788K	MYH14_ENST00000601313.1_Missense_Mutation_p.E1788K|MYH14_ENST00000596571.1_Missense_Mutation_p.E1747K|MYH14_ENST00000425460.1_Missense_Mutation_p.E1755K|MYH14_ENST00000376970.2_Missense_Mutation_p.E1780K|MYH14_ENST00000262269.8_Missense_Mutation_p.E1788K|MYH14_ENST00000598205.1_Missense_Mutation_p.E1755K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1747					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CATTCTGGAGGAGAAGCGTCA	0.612000													11	23					0	0	0.001368	0	0
SYT10	341359	broad.mit.edu	37	12	33532766	33532766	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:33532766C>A	ENST00000228567.3	-	6	1797		c.e6+1		SYT10_ENST00000535526.1_Splice_Site	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACAAGCTTACCTCCAGCAAT	0.418000													18	65					1.87028e-06	2.14169e-06	0.001882	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870404	51870404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51870404C>T	ENST00000371497.5	+	2	1294	c.407C>T	c.(406-408)tCc>tTc	p.S136F	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S133F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S133F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	136					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTCGGATTCCTACTGGTCA	0.512000													7	65					0	0	0.004482	0	0
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	rs141526694	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77376996G>A	ENST00000451710.3	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423000													17	57					0	0	0.004990	0	0
MGEA5	10724	broad.mit.edu	37	10	103558830	103558830	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:103558830G>A	ENST00000361464.3	-	9	1973	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	MGEA5_ENST00000357797.5_Silent_p.P473P|MGEA5_ENST00000439817.1_Silent_p.P473P|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Silent_p.P526P	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	526					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTTTGCATGGGGGCAATGT	0.448000													28	113					0	0	0.007291	0	0
DENND3	22898	broad.mit.edu	37	8	142165978	142165978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:142165978G>A	ENST00000519811.1	+	8	1175	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	DENND3_ENST00000262585.2_Missense_Mutation_p.D289N|DENND3_ENST00000424248.1_Missense_Mutation_p.D289N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	289	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GATAAATATTGATCATGGGAG	0.428000													11	57					0	0	0.000978	0	0
CPEB3	22849	broad.mit.edu	37	10	93952255	93952255	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:93952255T>C	ENST00000265997.4	-	3	1316	c.1144A>G	c.(1144-1146)Atg>Gtg	p.M382V	CPEB3_ENST00000412050.4_Intron	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	382							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCCTCCACATTATATCAGCG	0.373000													12	55					0	0	0.003163	0	0
C3P1	388503	broad.mit.edu	37	19	10169529	10169529	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:10169529G>A	ENST00000495140.1	+	0	1929																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTCCTGGAGAGAAAACTTCCC	0.562000													12	62					0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585599	82585599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82585599C>T	ENST00000423517.2	-	5	5007	c.4670G>A	c.(4669-4671)cGa>cAa	p.R1557Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1557Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1488					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTGTTTTCGAATGAAGTC	0.418000													14	72					0	0	0.004990	0	0
CHGB	1114	broad.mit.edu	37	20	5903702	5903702	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:5903702G>A	ENST00000378961.4	+	4	1116	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	304						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTGAGGAAAAGGGACACCCCC	0.587000													8	12					0	0	0.003080	0	0
OR5H15	403274	broad.mit.edu	37	3	97888044	97888044	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:97888044C>T	ENST00000356526.2	+	1	501	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	167			T -> S (in dbSNP:rs4133322).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCAGACTAACCTTCTGTAACT	0.333000													8	40					0	0	0.003080	0	0
AIM1	202	broad.mit.edu	37	6	106968334	106968334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:106968334C>T	ENST00000369066.3	+	2	2514	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	676							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)		CAGGATAGCCCTGCCAGCCTT	0.438000													5	48					0	0	0.000602	0	0
OR8J1	219477	broad.mit.edu	37	11	56128027	56128027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56128027G>A	ENST00000303039.3	+	1	337	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCCAACTGGGAGGGTTCTTG	0.413000													30	83					0	0	0.008361	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456284	5456284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:5456284C>T	ENST00000222033.4	+	1	859	c.782C>T	c.(781-783)aCc>aTc	p.T261I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	261						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGGCTGTACCCTGGCCCTG	0.667000													14	61					0	0	0.001855	0	0
POGZ	23126	broad.mit.edu	37	1	151378399	151378399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:151378399G>A	ENST00000271715.2	-	19	3426	c.3112C>T	c.(3112-3114)Cag>Tag	p.Q1038*	POGZ_ENST00000540984.1_Nonsense_Mutation_p.Q400*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q985*|POGZ_ENST00000368863.2_Nonsense_Mutation_p.Q943*|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q985*|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q994*|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q1029*|POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q976*	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1038	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTCGCGCTGGGTTAGCACC	0.517000													16	99					0	0	0.006122	0	0
PGBD1	84547	broad.mit.edu	37	6	28269287	28269287	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28269287C>T	ENST00000405948.2	+	7	2076	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	PGBD1_ENST00000259883.3_Silent_p.C552C	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	552					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTGTGAATGCTTTGATAGTG	0.363000													21	60					0	0	0.001882	0	0
AKAP9	10142	broad.mit.edu	37	7	91691662	91691662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:91691662C>T	ENST00000359028.2	+	25	6100	c.5875C>T	c.(5875-5877)Cgt>Tgt	p.R1959C	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1959C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1947C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1959	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATAATAGATCGTCTTGAGCA	0.358000			T	BRAF	papillary thyroid								26	116					0	0	0.006320	0	0
EPX	8288	broad.mit.edu	37	17	56272400	56272400	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56272400T>C	ENST00000225371.5	+	6	780	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	224					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGCCCTCATGTTCATGCAGTG	0.602000													5	34					0	0	0.000602	0	0
MLKL	197259	broad.mit.edu	37	16	74729605	74729605	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:74729605C>T	ENST00000308807.7	-	2	514	c.51G>A	c.(49-51)cgG>cgA	p.R17R	MLKL_ENST00000306247.7_Silent_p.R17R	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	17							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						TCTCTTCACACCGTTTGTGGA	0.498000													8	64					0	0	0.006214	0	0
PDXDC1	23042	broad.mit.edu	37	16	15110009	15110009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:15110009G>A	ENST00000396410.4	+	9	848	c.751G>A	c.(751-753)Gac>Aac	p.D251N	PDXDC1_ENST00000563679.1_Missense_Mutation_p.D269N|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D160N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D228N|PDXDC1_ENST00000535621.2_Missense_Mutation_p.D251N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.D236N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D223N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D224N	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	251					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGGACACACAGACAAGATTGG	0.463000													5	83					0	0	0.006214	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131315	52131315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:52131315G>A	ENST00000222107.4	-	5	907	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.L257F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L257F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.L257F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.L257F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	257	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGACCGGAAGGTATGAGGTG	0.622000													14	65					0	0	0.002450	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180898	43180898	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:43180898G>A	ENST00000398795.2	+	5	947	c.579G>A	c.(577-579)ggG>ggA	p.G193G	TNFSF11_ENST00000239849.6_Silent_p.G266G|TNFSF11_ENST00000405262.2_Silent_p.G193G|TNFSF11_ENST00000544862.1_Silent_p.G193G|TNFSF11_ENST00000358545.2_Silent_p.G193G	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	266					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	p.G266G(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATTGGTCAGGGAATTCTGAAT	0.423000													12	68					0	0	0.001368	0	0
MMP16	4325	broad.mit.edu	37	8	89053914	89053914	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:89053914A>C	ENST00000286614.6	-	10	1880	c.1599T>G	c.(1597-1599)gaT>gaG	p.D533E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	533					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTGTTGGTCCATCACAGCCCA	0.428000													20	67					0	0	0.007413	0	0
ITGB8	3696	broad.mit.edu	37	7	20418903	20418903	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:20418903G>A	ENST00000222573.3	+	4	1302	c.618G>A	c.(616-618)agG>agA	p.R206R	ITGB8_ENST00000537992.1_Silent_p.R71R	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACCCCGAAAGGATTCATAATC	0.338000													7	23					0	0	0.006214	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349913	21349913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:21349913G>A	ENST00000256958.2	+	8	857	c.761G>A	c.(760-762)tGg>tAg	p.W254*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	254					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GATTCTCGATGGGTTGGAGCT	0.358000													15	67					0	0	0.003163	0	0
PCM1	5108	broad.mit.edu	37	8	17830107	17830107	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:17830107A>G	ENST00000325083.8	+	23	4293	c.3854A>G	c.(3853-3855)cAg>cGg	p.Q1285R	PCM1_ENST00000519253.1_Missense_Mutation_p.Q1285R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1286R|PCM1_ENST00000327578.8_5'UTR	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1285	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCGTCTGCACAGGCCAGCCTG	0.398000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								9	52					0	0	0.004482	0	0
KLHL1	57626	broad.mit.edu	37	13	70293705	70293705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:70293705G>A	ENST00000377844.4	-	9	2570	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	KLHL1_ENST00000545028.1_Missense_Mutation_p.S411L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	604					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACCTCCAACTGAATACAACCT	0.333000													6	31					0	0	0.003080	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343184	69343184	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69343184T>A	ENST00000305363.4	+	8	869	c.805T>A	c.(805-807)Tac>Aac	p.Y269N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	269	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATGAAAAATACAAACACCC	0.418000													48	203					0	0	0.003610	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350720	134350720	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:134350720C>T	ENST00000357304.4	+	15	3259	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1068							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGGCCGGGGCCGTGGTTTCA	0.607000													5	43					0	0	0.000602	0	0
CST7	8530	broad.mit.edu	37	20	24930087	24930087	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:24930087G>A	ENST00000376835.2	+	1	222	c.12G>A	c.(10-12)gaG>gaA	p.E4E	CST7_ENST00000480798.1_5'UTR			O76096	CYTF_HUMAN	cystatin F (leukocystatin)	0					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						TGCTGCCTGAGAAGGCACTGC	0.672000													13	46					0	0	0.003163	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55735289C>T	ENST00000312345.2	-	1	701	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393000													7	26					0	0	0.003080	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45218339	45218339	+	Missense_Mutation	SNP	G	G	A	rs55849456	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:45218339G>A	ENST00000517296.3	+	11	1105	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E281K|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.E190K|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E290K|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E159K|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E369K|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.E159K					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CATCCCTCCCGAAGTTTTGCG	0.468000													13	59					0	0	0.001368	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955384	58955384	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:58955384C>T	ENST00000423743.3	+	25	3699	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	KIAA0586_ENST00000556134.1_Silent_p.F1176F|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.F1244F|KIAA0586_ENST00000261244.5_Silent_p.F1115F	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1115										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTATGGATTTCCCTGCTCAGC	0.483000													15	44					0	0	0.004007	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037035	40037035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:40037035G>A	ENST00000336649.4	+	8	904	c.904G>A	c.(904-906)Gac>Aac	p.D302N	CACNA1I_ENST00000402142.3_Missense_Mutation_p.D302N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D302N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D302N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D302N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D302N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	302					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGACGTCTACGACTTTGGGGC	0.632000													22	68					0	0	0.003954	0	0
AAK1	22848	broad.mit.edu	37	2	69707998	69707998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:69707998G>A	ENST00000409085.4	-	19	2939	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	855						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGACCTGTGCGATTCGAGGTC	0.552000													4	7					0	0	0.000248	0	0
CELSR2	1952	broad.mit.edu	37	1	109795360	109795360	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109795360T>C	ENST00000271332.3	+	1	2720	c.2659T>C	c.(2659-2661)Tat>Cat	p.Y887H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	887	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGGCCCAGTATGTCTTGCG	0.562000													116	374					0	0	0.003610	0	0
EPHA3	2042	broad.mit.edu	37	3	89478279	89478279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:89478279G>A	ENST00000336596.2	+	12	2323	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E700K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	700	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTGTCACAGAATACATGGA	0.303000										TSP Lung(6;0.00050)			8	52					0	0	0.006214	0	0
GNRH2	2797	broad.mit.edu	37	20	3026366	3026366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3026366C>T	ENST00000380347.2	+	3	731	c.326C>T	c.(325-327)tCc>tTc	p.S109F	GNRH2_ENST00000359100.2_Missense_Mutation_p.S109F|GNRH2_ENST00000245983.2_Missense_Mutation_p.S116F|GNRH2_ENST00000380346.2_Missense_Mutation_p.S108F|GNRH2_ENST00000359987.1_Missense_Mutation_p.S108F			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	116					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						GCCCCGCCATCCTCCAATAAA	0.647000													12	58					0	0	0.006122	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349733	6349733	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:6349733G>A	ENST00000335585.5	-	6	653	c.630C>T	c.(628-630)atC>atT	p.I210I	PPP2R2C_ENST00000507294.1_Silent_p.I203I|PPP2R2C_ENST00000515571.1_Silent_p.I193I|PPP2R2C_ENST00000382599.4_Silent_p.I210I|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Silent_p.I203I	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	210					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGATGTCCACGATGTCTGGGG	0.597000													11	46					0	0	0.001368	0	0
UNC5A	90249	broad.mit.edu	37	5	176301447	176301447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:176301447G>A	ENST00000329542.4	+	8	1532	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E380K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	420					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGAGGCCGAGGAGTTCGT	0.662000													30	105					0	0	0.002836	0	0
KRT10	3858	broad.mit.edu	37	17	38975971	38975971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:38975971C>T	ENST00000269576.5	-	6	1180	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	391	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCCAAGGAGGCTTCCAGGGAT	0.443000													6	48					0	0	0.003080	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791249	17791249	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:17791249C>T	ENST00000380607.4	+	7	765	c.645C>T	c.(643-645)ctC>ctT	p.L215L	SH3GL2_ENST00000537391.1_Silent_p.L168L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	215	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGAGCCAGCTCTCTGCACTTG	0.473000													10	100					0	0	0.001855	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420919	55420919	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55420919G>A	ENST00000242994.3	+	2	1074	c.696G>A	c.(694-696)ttG>ttA	p.L232L		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	232					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAAGAGTTTGGGAGAATCGT	0.517000													11	56					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82582184	82582184	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82582184G>A	ENST00000423517.2	-	5	8422	c.8085C>T	c.(8083-8085)tcC>tcT	p.S2695S	PCLO_ENST00000333891.8_Silent_p.S2695S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2626					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAATTGTTATGGAAATGCTGC	0.413000													12	50					0	0	0.000978	0	0
SON	6651	broad.mit.edu	37	21	34923547	34923547	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:34923547G>A	ENST00000356577.4	+	3	2485	c.2010G>A	c.(2008-2010)tcG>tcA	p.S670S	SON_ENST00000290239.6_Silent_p.S670S|SON_ENST00000381679.4_Silent_p.S670S|SON_ENST00000300278.4_Silent_p.S670S|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	670					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGACCGTGTCGCAGTCCCTGG	0.572000													13	48					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179497685	179497685	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179497685C>T	ENST00000589042.1	-	234	43397	c.43173G>A	c.(43171-43173)caG>caA	p.Q14391Q	TTN_ENST00000342175.6_Silent_p.Q5518Q|TTN_ENST00000359218.5_Silent_p.Q5451Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Q12750Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Q5326Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.Q11823Q|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12750							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)			CATTAGCAGCCTGGAAGGAAA	0.443000													15	89					0	0	0.003163	0	0
RSPO2	340419	broad.mit.edu	37	8	109001381	109001381	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:109001381G>A	ENST00000276659.5	-	3	806	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	62					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACA	0.473000													8	44					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152552588	152552588	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:152552588C>A	ENST00000367255.5	-	114	21578	c.20977G>T	c.(20977-20979)Gct>Tct	p.A6993S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A6922S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A6922S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A6993S|SYNE1_ENST00000356820.4_Missense_Mutation_p.A1517S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6605S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6993					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTGCTCAGCAAAATCAGTC	0.423000										HNSCC(10;0.0054)			9	49					3.09899e-07	3.55531e-07	0.004482	1	0
DMBT1	1755	broad.mit.edu	37	10	124358529	124358529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:124358529G>A	ENST00000338354.3	+	26	3302	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	DMBT1_ENST00000330163.4_Missense_Mutation_p.E567K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1056K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.E567K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1056K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1066K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1066	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAGTCTTACCT	0.597000													25	115					0	0	0.003330	0	0
WRAP73	49856	broad.mit.edu	37	1	3551599	3551599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:3551599C>T	ENST00000378322.3	-	8	836	c.778G>A	c.(778-780)Gag>Aag	p.E260K	WRAP73_ENST00000270708.7_Missense_Mutation_p.E260K			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	260						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGCCCAAACTCCGTGATCATT	0.567000													33	147					0	0	0.006230	0	0
FANCB	2187	broad.mit.edu	37	X	14863068	14863068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:14863068G>A	ENST00000398334.1	-	8	2104	c.1837C>T	c.(1837-1839)Cgt>Tgt	p.R613C	FANCB_ENST00000324138.3_Missense_Mutation_p.R613C	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	613					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACAACATAACGATCTTTAGGA	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				51	60					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22363644	22363644	+	Missense_Mutation	SNP	G	G	A	rs11671538		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:22363644G>A	ENST00000397121.2	-	3	1192	c.875C>T	c.(874-876)tCg>tTg	p.S292L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	292			S -> W (in dbSNP:rs11671538).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTTGAGGACGAGTTGGAAGC	0.438000													12	40					0	0	0.001368	0	0
TREML2	79865	broad.mit.edu	37	6	41165887	41165887	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41165887G>A	ENST00000483722.1	-	2	521	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	112	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGTACAGGATCCCAGAGG	0.622000													7	32					0	0	0.001984	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211432	74211432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:74211432G>A	ENST00000405086.2	-	16	2608	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.P354S	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ttcagggtgggaaagtgggcc	0.488000													37	132					0	0	0.007835	0	0
OR52K1	390036	broad.mit.edu	37	11	4511075	4511075	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4511075G>A	ENST00000307632.3	+	1	967	c.945G>A	c.(943-945)taG>taA	p.*315*		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAACATGTAGATGGATAGTT	0.398000													12	54					0	0	0.001368	0	0
CUL9	23113	broad.mit.edu	37	6	43155482	43155482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:43155482C>T	ENST00000252050.4	+	7	1697	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	CUL9_ENST00000354495.3_Missense_Mutation_p.S428F|CUL9_ENST00000372647.2_Missense_Mutation_p.S538F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	538					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGAGATCTCTGTGTCCGTG	0.512000													21	115					0	0	0.001523	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369265	20369265	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:20369265G>A	ENST00000593655.1	-	0	199																											CTACCCTATGGAAAATGGCAT	0.378000													15	72					0	0	0.003163	0	0
GABRE	2564	broad.mit.edu	37	X	151128324	151128324	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151128324G>A	ENST00000370325.1	-	6	824	c.771C>T	c.(769-771)atC>atT	p.I257I	GABRE_ENST00000393914.3_Silent_p.I64I|GABRE_ENST00000370328.3_Silent_p.I257I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTTGTGATTATTTCAG	0.453000													17	17					0	0	0.007413	0	0
HOMER3	9454	broad.mit.edu	37	19	19042209	19042209	+	Silent	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:19042209G>C	ENST00000539827.1	-	8	1471	c.819C>G	c.(817-819)acC>acG	p.T273T	HOMER3_ENST00000221222.11_Silent_p.T273T|HOMER3_ENST00000433218.2_Silent_p.T273T|HOMER3_ENST00000355887.6_Silent_p.T273T|HOMER3_ENST00000542541.2_Silent_p.T273T|HOMER3_ENST00000594439.1_Silent_p.T237T|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000392351.3_Silent_p.T273T|HOMER3_ENST00000594794.1_Silent_p.T64T			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	273					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GACTCTTCAGGGTCTGAATCT	0.637000													18	82					0	0	0.004990	0	0
GRM7	2917	broad.mit.edu	37	3	7340474	7340474	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:7340474C>T	ENST00000486284.1	+	3	1114	c.840C>T	c.(838-840)tcC>tcT	p.S280S	GRM7_ENST00000402647.2_Silent_p.S280S|GRM7_ENST00000357716.4_Silent_p.S280S|GRM7_ENST00000403881.1_Silent_p.S280S|GRM7_ENST00000389336.4_Silent_p.S280S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	280					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCCCAACTCCAGGGCCGTCG	0.438000													12	34					0	0	0.001368	0	0
CRB1	23418	broad.mit.edu	37	1	197396670	197396670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:197396670C>T	ENST00000367397.1	+	3	1216	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	CRB1_ENST00000367400.3_Missense_Mutation_p.L739F|CRB1_ENST00000544212.1_Missense_Mutation_p.L220F|CRB1_ENST00000535699.1_Missense_Mutation_p.L670F|CRB1_ENST00000367399.2_Missense_Mutation_p.L627F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	739	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACCATCAGCCTCTCCATGTT	0.463000													8	38					0	0	0.003080	0	0
FAM131A	131408	broad.mit.edu	37	3	184062652	184062652	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:184062652G>T	ENST00000310585.4	+	3	2266	c.902G>T	c.(901-903)tGc>tTc	p.C301F	FAM131A_ENST00000453072.1_Missense_Mutation_p.C247F|FAM131A_ENST00000340957.5_Missense_Mutation_p.C247F|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.C332F|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.C247F			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	301						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCACTCTGCCCACCACTA	0.642000													10	32					1.58986e-06	1.82227e-06	0.008291	1	0
OR9A4	130075	broad.mit.edu	37	7	141618934	141618934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141618934C>T	ENST00000548136.1	+	1	318	c.259C>T	c.(259-261)Cct>Tct	p.P87S	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATTGCTGCTCCCTGGGATGCA	0.522000													34	104					0	0	0.003271	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813400	106813400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:106813400C>T	ENST00000407775.2	+	8	1340	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R232*|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R232*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R95*|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	364					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCTGCCTTCCGATGTAATCA	0.507000													24	144					0	0	0.003954	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392630	22392630	+	RNA	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22392630T>A	ENST00000390440.2	+	0	228																											GTGATCAAAGTTATGGTCTAT	0.458000													15	74					0	0	0.006122	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47252044	47252044	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:47252044G>A	ENST00000296861.2	-	3	1266	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	291					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGTTTGGGAGGGTCTTGTTCA	0.567000													21	160					0	0	0.001882	0	0
OR52A1	23538	broad.mit.edu	37	11	5172693	5172693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5172693G>A	ENST00000380367.1	-	2	1324	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358000													20	153					0	0	0.002780	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4661092C>T	ENST00000357605.2	+	1	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATACTTCCTTTTGGTGG	0.502000													21	142					0	0	0.008871	0	0
CLDN1	9076	broad.mit.edu	37	3	190030677	190030677	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:190030677C>T	ENST00000295522.3	-	2	640	c.372G>A	c.(370-372)gcG>gcA	p.A124A		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GAAGAAATATCGCACCCCCAA	0.448000													34	105					0	0	0.002445	0	0
DSC3	1825	broad.mit.edu	37	18	28611119	28611119	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28611119G>A	ENST00000434452.1	-	3	328	c.174C>T	c.(172-174)ttC>ttT	p.F58F	DSC3_ENST00000360428.4_Silent_p.F58F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	58					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGCAGACCTGAAGCACTCTT	0.358000													10	24					0	0	0.008291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599645	136599645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:136599645G>A	ENST00000531224.1	-	4	626	c.374C>T	c.(373-375)tCc>tTc	p.S125F	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S123F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S125F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S125F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S123F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S123F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	125					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCTTCTGGATCTTTGAGA	0.448000													23	199					0	0	0.003330	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:25708118C>T	ENST00000520164.1	-	15	2225	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	EBF2_ENST00000408929.3_Missense_Mutation_p.G415E|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000													14	70					0	0	0.004007	0	0
ARSI	340075	broad.mit.edu	37	5	149677766	149677766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:149677766G>A	ENST00000328668.7	-	2	1300	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	241						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTGCAGGGGTGTGTGTACT	0.622000													9	51					0	0	0.008291	0	0
PSG3	5671	broad.mit.edu	37	19	43234162	43234162	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:43234162C>T	ENST00000327495.5	-	4	940	c.756G>A	c.(754-756)agG>agA	p.R252R	PSG3_ENST00000595140.1_Silent_p.R252R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	252	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTTATTCTCCCTGGGGTTTA	0.502000													32	169					0	0	0.003610	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080454	70080454	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:70080454G>A	ENST00000505646.1	+	0	618																											GGTGCAATGCGATCATTCTTT	0.363000													19	110					0	0	0.007413	0	0
PHF21A	51317	broad.mit.edu	37	11	45987070	45987070	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:45987070G>A	ENST00000257821.4	-	9	1415	c.792C>T	c.(790-792)ccC>ccT	p.P264P	PHF21A_ENST00000418153.2_Silent_p.P263P|PHF21A_ENST00000323180.6_Silent_p.P264P	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	263					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCAGCATGACGGGCCTCTGGA	0.562000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	25					0	0	0.001855	0	0
F13A1	2162	broad.mit.edu	37	6	6225016	6225016	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:6225016G>A	ENST00000264870.3	-	7	1141	c.876C>T	c.(874-876)gcC>gcT	p.A292A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	292					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCAGTCCAGGCCGATGGGG	0.498000													19	72					0	0	0.007413	0	0
KCNH2	3757	broad.mit.edu	37	7	150645619	150645619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150645619G>A	ENST00000392968.2	-	9	3437	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	KCNH2_ENST00000262186.5_Missense_Mutation_p.P869S|KCNH2_ENST00000330883.4_Missense_Mutation_p.P529S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	869					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGGGAGCCCGGGATCATGTTG	0.607000													6	31					0	0	0.001984	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345071	60345071	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:60345071C>T	ENST00000581291.1	-	0	896																				breast(2)|kidney(1)|lung(2)	5						CAATCAATATCCGGATGAGGC	0.582000													22	95					0	0	0.005443	0	0
QSER1	79832	broad.mit.edu	37	11	32953685	32953685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:32953685C>T	ENST00000399302.2	+	4	829	c.494C>T	c.(493-495)gCc>gTc	p.A165V	QSER1_ENST00000527788.1_Missense_Mutation_p.A165V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	165	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTCCTCAAGCCTACAGTTCA	0.458000													38	115					0	0	0.006230	0	0
RBBP4	5928	broad.mit.edu	37	1	33138492	33138492	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:33138492T>C	ENST00000373493.5	+	11	1361	c.1202T>C	c.(1201-1203)gTg>gCg	p.V401A	RBBP4_ENST00000458695.2_Missense_Mutation_p.V366A|RBBP4_ENST00000414241.3_Missense_Mutation_p.V400A|RBBP4_ENST00000544435.1_Missense_Mutation_p.V149A|RBBP4_ENST00000373485.1_Missense_Mutation_p.V401A	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	401					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCATGCAAGTGTGGCAAATG	0.348000													5	23					0	0	0.000602	0	0
PVRL4	81607	broad.mit.edu	37	1	161043552	161043552	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:161043552G>A	ENST00000368012.3	-	7	1493	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	PVRL4_ENST00000453926.2_Silent_p.S131S|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	397					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTCCGGATGGAGTTCTCCC	0.607000													13	51					0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411484	105411484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:105411484G>A	ENST00000333244.5	-	7	10423	c.10304C>T	c.(10303-10305)tCt>tTt	p.S3435F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3435						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGGGCAGAGACACCTCCAC	0.632000													33	117					0	0	0.002836	0	0
DNAH5	1767	broad.mit.edu	37	5	13883121	13883121	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:13883121G>A	ENST00000265104.4	-	20	3170	c.3066C>T	c.(3064-3066)gtC>gtT	p.V1022V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1022	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGGGCCATGACGATGTTGG	0.522000									Kartagener syndrome				22	87					0	0	0.001882	0	0
GPR113	165082	broad.mit.edu	37	2	26532440	26532440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:26532440C>T	ENST00000333478.6	-	11	3136	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	GPR113_ENST00000421160.2_Missense_Mutation_p.E982K|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.E654K	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCAGCCTTCATTTGTGGCC	0.507000													4	15					0	0	0.000248	0	0
PAPPA	5069	broad.mit.edu	37	9	118949433	118949433	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:118949433G>A	ENST00000328252.3	+	2	785	c.415_splice	c.e2-1	p.G139_splice		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	139					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCCACATAGGGCTGTATGAC	0.413000													13	45					0	0	0.001368	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102359354	102359354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:102359354C>T	ENST00000422945.2	+	9	896	c.800C>T	c.(799-801)gCc>gTc	p.A267V	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A236V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A236V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A236V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A291V|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.A236V	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	236					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATGGATTTGCCTTACCACTA	0.343000													8	30					0	0	0.003080	0	0
CCDC141	285025	broad.mit.edu	37	2	179736992	179736992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179736992C>T	ENST00000420890.2	-	13	2064	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	CCDC141_ENST00000295723.5_Missense_Mutation_p.M74I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	74							protein binding	p.M74I(1)|p.M649I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTGTTCTTCATGAGGTACA	0.408000													5	50					0	0	0.000602	0	0
OR5H15	403274	broad.mit.edu	37	3	97888287	97888287	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:97888287C>T	ENST00000356526.2	+	1	744	c.744C>T	c.(742-744)gtC>gtT	p.V248V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCTTCTCTGTCTGTTTATACT	0.428000													18	45					0	0	0.006122	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769837	112769837	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:112769837T>C	ENST00000390666.3	-	1	891	c.700A>G	c.(700-702)Aac>Gac	p.N234D	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	234	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CGTGGGAAGTTGACGCGGTGC	0.587000													15	48					0	0	0.003163	0	0
SLC9A9	285195	broad.mit.edu	37	3	143185918	143185918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:143185918C>T	ENST00000316549.6	-	12	1638	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	477					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGTTCCTCCTCCAAATACCCA	0.468000													8	19					0	0	0.004482	0	0
GLRA4	441509	broad.mit.edu	37	X	102974111	102974111	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:102974111G>A	ENST00000372617.4	-	7	1227	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	269						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAGGATGACGATGAGTAGGC	0.557000													40	55					0	0	0.002522	0	0
DNAH9	1770	broad.mit.edu	37	17	11642272	11642272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:11642272C>T	ENST00000262442.3	+	29	5958	c.5890C>T	c.(5890-5892)Cct>Tct	p.P1964S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1964S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1964	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCCTGAATCCTTCTGTCGG	0.493000													10	45					0	0	0.006214	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744484	37744484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:37744484G>A	ENST00000539465.1	+	16	3048	c.2455G>A	c.(2455-2457)Gga>Aga	p.G819R	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G819R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	819						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGGCCAGATGGAAGACAGCC	0.532000													30	75					0	0	0.007291	0	0
GPR31	2853	broad.mit.edu	37	6	167571113	167571113	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:167571113G>A	ENST00000366834.1	-	1	704	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	69						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGGCCAGGAAAGGCAGGC	0.657000													4	30					0	0	0.000602	0	0
PIGH	5283	broad.mit.edu	37	14	68060610	68060610	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:68060610G>A	ENST00000216452.4	-	2	323	c.240C>T	c.(238-240)ctC>ctT	p.L80L	PIGH_ENST00000560722.1_Silent_p.L80L|PIGH_ENST00000559581.1_Intron	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	80					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		TCACAAAATGGAGATAACCAA	0.433000													5	17					0	0	0.001168	0	0
CUL9	23113	broad.mit.edu	37	6	43164422	43164422	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:43164422C>T	ENST00000252050.4	+	11	2709	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N	CUL9_ENST00000354495.3_Silent_p.N765N|CUL9_ENST00000372647.2_Silent_p.N875N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	875					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCTGCTCAACCTACTTTTGT	0.502000													25	87					0	0	0.003954	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479098	32479098	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:32479098G>A	ENST00000266088.4	+	7	871	c.621G>A	c.(619-621)caG>caA	p.Q207Q	SLC5A1_ENST00000543737.1_Silent_p.Q80Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	207					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACACCTTGCAGACGGTGATCA	0.582000													10	38					0	0	0.001368	0	0
ZNF34	80778	broad.mit.edu	37	8	145999437	145999437	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:145999437C>G	ENST00000429371.2	-	6	987	c.834G>C	c.(832-834)agG>agC	p.R278S	ZNF34_ENST00000343459.4_Missense_Mutation_p.R299S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGAGTGCATCCTTCGGTGAT	0.532000													10	37					0	0	0.008291	0	0
POC1A	25886	broad.mit.edu	37	3	52183354	52183354	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:52183354G>A	ENST00000394970.2	-	4	644	c.327C>T	c.(325-327)gtC>gtT	p.V109V	POC1A_ENST00000296484.2_Silent_p.V109V|POC1A_ENST00000474012.1_Silent_p.V71V	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	109						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGCAGAAGTGGACACTCCTCA	0.517000													13	51					0	0	0.001855	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284435	47284435	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:47284435G>A	ENST00000271153.4	+	12	1521	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	CYP4B1_ENST00000371919.4_Silent_p.K481K|CYP4B1_ENST00000452782.2_Silent_p.K333K|CYP4B1_ENST00000371923.4_Silent_p.K496K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	495					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCGCTCCAAGAATGGCTTTC	0.592000													25	80					0	0	0.003954	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348180	77348180	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:77348180A>T	ENST00000561277.1	-	0	335				TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000267970.4_Missense_Mutation_p.F94Y|TSPAN3_ENST00000346495.2_Intron|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000424443.3_Missense_Mutation_p.F30Y			O60637	TSN3_HUMAN	tetraspanin 3							integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TTCTGTGACAAAAACCAAGAG	0.299000													14	67					0	0	0.007413	0	0
PCDH7	5099	broad.mit.edu	37	4	30723223	30723223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:30723223G>A	ENST00000361762.2	+	1	1187	c.179G>A	c.(178-180)gGa>gAa	p.G60E	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCGTGACCGGATCGGGTGAG	0.677000													8	37					0	0	0.003080	0	0
TRPM5	29850	broad.mit.edu	37	11	2443414	2443414	+	Silent	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:2443414C>G	ENST00000452833.1	-	2	263	c.255G>C	c.(253-255)cgG>cgC	p.R85R	TRPM5_ENST00000528453.1_Silent_p.R85R|TRPM5_ENST00000533060.1_Silent_p.R85R|TRPM5_ENST00000155858.6_Silent_p.R85R			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	85						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCAGCACATCCCGCAGCCAGG	0.682000													26	175					0	0	0.005443	0	0
A2M	2	broad.mit.edu	37	12	9264767	9264767	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:9264767G>A	ENST00000318602.7	-	4	778	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	157					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACTCATTCAGGGGGTGAAAGT	0.423000													6	50					0	0	0.003080	0	0
NLRP2	55655	broad.mit.edu	37	19	55489158	55489158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55489158G>A	ENST00000543010.1	+	4	507	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NLRP2_ENST00000263437.6_Missense_Mutation_p.E122K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E122K|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.E122K|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000427260.2_Missense_Mutation_p.E99K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E122K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	122					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGACGTGGACGAAATGCTGGA	0.552000													21	50					0	0	0.002299	0	0
CAPN6	827	broad.mit.edu	37	X	110494857	110494857	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:110494857G>A	ENST00000324068.1	-	6	980	c.813C>T	c.(811-813)gtC>gtT	p.V271V	CAPN6_ENST00000541758.1_Silent_p.V16V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	271	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAGCACTGAAGACTTCCACAA	0.478000													77	128					0	0	0.003610	0	0
FGFR1	2260	broad.mit.edu	37	8	38282033	38282033	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:38282033G>A	ENST00000447712.2	-	7	1871	c.930C>T	c.(928-930)atC>atT	p.I310I	FGFR1_ENST00000326324.6_Silent_p.I219I|FGFR1_ENST00000425967.3_Silent_p.I341I|FGFR1_ENST00000397091.5_Silent_p.I308I|FGFR1_ENST00000397103.1_Silent_p.I219I|FGFR1_ENST00000397108.4_Silent_p.I308I|FGFR1_ENST00000397113.2_Silent_p.I308I|FGFR1_ENST00000356207.5_Silent_p.I221I|FGFR1_ENST00000341462.5_Silent_p.I311I|FGFR1_ENST00000532791.1_Silent_p.I310I|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000335922.5_Silent_p.I302I	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	310	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTACCTTCAAGATCTGGACAT	0.567000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						13	70					0	0	0.001855	0	0
RNF219	79596	broad.mit.edu	37	13	79191042	79191042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:79191042C>T	ENST00000282003.6	-	6	912	c.854G>A	c.(853-855)aGt>aAt	p.S285N	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	285							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ATCCTCCTCACTGCCTTTGCT	0.483000													10	68					0	0	0.006214	0	0
CCDC108	255101	broad.mit.edu	37	2	219883791	219883791	+	Missense_Mutation	SNP	C	C	T	rs147747619		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:219883791C>T	ENST00000341552.5	-	21	3667	c.3584G>A	c.(3583-3585)gGa>gAa	p.G1195E	CCDC108_ENST00000453220.1_Missense_Mutation_p.G1195E|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1195E	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1195						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGACACCACTCCGCTGTTCTT	0.597000													16	106					0	0	0.004007	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:45458979C>T	ENST00000548424.1	+	0	448																											CCTTGTATTTCCCCAGCTCAT	0.433000													4	14					0	0	0.000602	0	0
TLR7	51284	broad.mit.edu	37	X	12904184	12904184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:12904184G>A	ENST00000380659.3	+	3	696	c.557G>A	c.(556-558)cGa>cAa	p.R186Q		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	186					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGTTATTATCGAAATCCTTGT	0.388000													9	15					0	0	0.004482	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602940	37602940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:37602940G>A	ENST00000399151.3	+	14	1943	c.1858G>A	c.(1858-1860)Ggc>Agc	p.G620S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	620					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGGAAGAAGGGCGGGAGCAT	0.537000													13	96					0	0	0.002450	0	0
MYT1	4661	broad.mit.edu	37	20	62848451	62848451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:62848451C>T	ENST00000536311.1	+	11	2027	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	MYT1_ENST00000328439.1_Missense_Mutation_p.P555S|MYT1_ENST00000360149.4_Missense_Mutation_p.P257S			Q01538	MYT1_HUMAN	myelin transcription factor 1	555					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTCGAGGTCCCTCCATATGG	0.632000													15	93					0	0	0.004007	0	0
FAM83C	128876	broad.mit.edu	37	20	33875020	33875020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:33875020C>T	ENST00000374408.3	-	4	1658	c.1562G>A	c.(1561-1563)gGa>gAa	p.G521E		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	521										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCAGGGTCTCCCACTTCTCG	0.642000													18	60					0	0	0.008871	0	0
XYLT1	64131	broad.mit.edu	37	16	17235063	17235063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:17235063C>T	ENST00000261381.6	-	7	1618	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	512					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCACCAGATCGTCTGTGGAG	0.517000													34	217					0	0	0.005524	0	0
DCTN4	51164	broad.mit.edu	37	5	150112930	150112930	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:150112930C>T	ENST00000447998.2	-	5	652	c.537_splice	c.e5+1	p.S179_splice	DCTN4_ENST00000446090.2_Splice_Site_p.S179_splice|DCTN4_ENST00000424236.1_Splice_Site_p.S122_splice	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	179						centrosome|nucleus	protein N-terminus binding	p.S179S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATTCTCACCGAAAAAGCCA	0.413000													12	41					0	0	0.001368	0	0
CDC20	991	broad.mit.edu	37	1	43825482	43825482	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:43825482T>C	ENST00000372462.1	+	3	620	c.417T>C	c.(415-417)aaT>aaC	p.N139N	CDC20_ENST00000310955.6_Silent_p.N139N|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	139					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACCACAAAATGCGCCAGAGG	0.502000													21	113					0	0	0.008871	0	0
ITM2B	9445	broad.mit.edu	37	13	48830478	48830478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:48830478G>A	ENST00000378565.5	+	3	615	c.412G>A	c.(412-414)Gca>Aca	p.A138T	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	138	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCCAGAGTTTGCAGATAGTGA	0.393000													6	38					0	0	0.003080	0	0
CELSR2	1952	broad.mit.edu	37	1	109815912	109815912	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109815912G>A	ENST00000271332.3	+	32	8524	c.8463G>A	c.(8461-8463)gaG>gaA	p.E2821E	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2821					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCTCGAGAGGGGTCCCTAG	0.647000													43	210					0	0	0.008740	0	0
RP1L1	94137	broad.mit.edu	37	8	10466676	10466676	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:10466676C>T	ENST00000382483.3	-	4	5155	c.4932G>A	c.(4930-4932)ggG>ggA	p.G1644G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1644					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGCTGGCTCCCCAGGGCTG	0.687000													5	32					0	0	0.001168	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946681	144946681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:144946681G>A	ENST00000369359.4	-	8	1029	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R194W|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R194W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R260W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R331W|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R194W|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R194W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	194					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTCTCCCGAGATAGCTGT	0.453000			T	PDGFRB	MPD								14	64					0	0	0.003163	0	0
CUL4A	8451	broad.mit.edu	37	13	113909009	113909009	+	Silent	SNP	G	G	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:113909009G>T	ENST00000451881.1	+	17	1704	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	CUL4A_ENST00000375440.4_Silent_p.G585G|CUL4A_ENST00000375441.3_Silent_p.G485G|CUL4A_ENST00000326335.4_Silent_p.G485G	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	585					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCTTCCAGGGGAAGAAGGAAT	0.438000													14	97					4.14922e-12	4.78248e-12	0.004007	1	0
CREG2	200407	broad.mit.edu	37	2	102000038	102000038	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102000038T>C	ENST00000324768.4	-	2	705	c.568A>G	c.(568-570)Atg>Gtg	p.M190V	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	190						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGCGAGGCCATGGGGTTCTTC	0.547000													10	41					0	0	0.000978	0	0
TBX22	50945	broad.mit.edu	37	X	79286045	79286045	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:79286045C>G	ENST00000442340.1	+	9	1128	c.638C>G	c.(637-639)tCt>tGt	p.S213C	TBX22_ENST00000373296.3_Missense_Mutation_p.S333C|TBX22_ENST00000373294.5_Missense_Mutation_p.S333C|TBX22_ENST00000373291.1_Missense_Mutation_p.S213C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	333					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGGGCCCCCTCTCCTTTGAAC	0.468000													16	24					0	0	0.003163	0	0
TNR	7143	broad.mit.edu	37	1	175332868	175332868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:175332868G>A	ENST00000367674.1	-	13	3391	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R895*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	895	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R895*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATGATACTCGGTAGTAATCG	0.438000													9	52					0	0	0.006214	0	0
NAA30	122830	broad.mit.edu	37	14	57876110	57876110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:57876110C>T	ENST00000556492.1	+	5	1119	c.965C>T	c.(964-966)aCc>aTc	p.T322I	NAA30_ENST00000554703.1_Silent_p.N45N|NAA30_ENST00000555166.1_Missense_Mutation_p.T64I	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	322	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GTTTTGGAAACCGAAATAACA	0.269000													5	23					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55698700	55698700	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:55698700T>A	ENST00000373965.2	-	26	3663	c.3269A>T	c.(3268-3270)aAt>aTt	p.N1090I	PCDH15_ENST00000395433.1_Missense_Mutation_p.N1061I|PCDH15_ENST00000409834.1_Missense_Mutation_p.N694I|PCDH15_ENST00000361849.3_Missense_Mutation_p.N1083I|PCDH15_ENST00000320301.6_Missense_Mutation_p.N1083I|PCDH15_ENST00000395438.1_Missense_Mutation_p.N1083I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.N1012I|PCDH15_ENST00000395432.2_Missense_Mutation_p.N1046I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.N1083I|PCDH15_ENST00000414778.1_Missense_Mutation_p.N1088I|PCDH15_ENST00000395445.1_Missense_Mutation_p.N1090I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1083	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGATGTTATTAATTCCAAA	0.363000										HNSCC(58;0.16)			5	54					0	0	0.001168	0	0
MIR518C	574477	broad.mit.edu	37	19	54212017	54212017	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:54212017G>A	ENST00000384822.1	+	0	29					NR_030199.1																						GTGACTCTCTGGAGGGAAGCA	0.408000													4	20					0	0	0.000602	0	0
KLHL17	339451	broad.mit.edu	37	1	898516	898516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:898516G>A	ENST00000338591.3	+	7	1177	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	357	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCATCCACGGAGACTGTGAG	0.711000													4	25					0	0	0.000248	0	0
NRSN2	80023	broad.mit.edu	37	20	333860	333860	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:333860C>T	ENST00000382291.3	+	4	436	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Silent_p.L66L	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	66						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTAGATCAGCCTGTCCTCGGG	0.617000													22	100					0	0	0.002780	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784793	140784793	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140784793C>T	ENST00000573521.1	+	1	2274	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_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)			AGGAGTTCTCCCTCACCGCTG	0.537000													11	53					0	0	0.002450	0	0
RRN3	54700	broad.mit.edu	37	16	15166834	15166834	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:15166834G>A	ENST00000198767.6	-	12	1184	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	RRN3_ENST00000540462.1_Silent_p.F185F|RRN3_ENST00000429751.2_Silent_p.F337F|RRN3_ENST00000327307.7_Silent_p.F334F|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Silent_p.F367F	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	367					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGTAAAACATGAAAAACTGTA	0.383000													8	39					0	0	0.003080	0	0
OR9G4	283189	broad.mit.edu	37	11	56510651	56510651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56510651C>T	ENST00000302957.3	-	1	636	c.637G>A	c.(637-639)Gtc>Atc	p.V213I		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAGCAGGACTTTTTCGTAG	0.453000													8	41					0	0	0.003080	0	0
ITGAD	3681	broad.mit.edu	37	16	31419746	31419746	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:31419746G>A	ENST00000389202.2	+	10	1059	c.1009_splice	c.e10-1	p.G337_splice		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	337					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCCCCACAGGAACCCAGTCC	0.547000													5	34					0	0	0.000602	0	0
OR8K1	390157	broad.mit.edu	37	11	56113517	56113517	+	Translation_Start_Site	SNP	G	G	A	rs146780927		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56113517G>A	ENST00000279783.2	+	1	97	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTACCAAGATGAATCATGTGG	0.358000										HNSCC(65;0.19)			10	26					0	0	0.000978	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142457353C>T	ENST00000486171.1	+	1	35	c.18C>T	c.(16-18)atC>atT	p.I6I	PRSS1_ENST00000311737.7_Silent_p.I6I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACTCCTGATCCTTACCTTTG	0.562000													15	57					0	0	0.004990	0	0
ILDR1	286676	broad.mit.edu	37	3	121712802	121712802	+	Missense_Mutation	SNP	G	G	A	rs146027039		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:121712802G>A	ENST00000273691.3	-	6	767	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ILDR1_ENST00000460554.1_Intron|ILDR1_ENST00000344209.5_Missense_Mutation_p.S265F|ILDR1_ENST00000393631.1_Missense_Mutation_p.S176F|ILDR1_ENST00000462014.1_Missense_Mutation_p.S233F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	265						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGGGAGGCTGGACGGCAGGGA	0.493000													8	42					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	142004865	142004865	+	Silent	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:142004865T>A	ENST00000389484.3	-	5	1493	c.522A>T	c.(520-522)ggA>ggT	p.G174G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	174	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTGTAGGATCCATGTGTGT	0.388000										TSP Lung(27;0.18)			16	62					0	0	0.004007	0	0
SPOCK2	9806	broad.mit.edu	37	10	73823966	73823966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73823966G>A	ENST00000373109.2	-	9	1405	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	SPOCK2_ENST00000317376.4_Nonsense_Mutation_p.Q321*|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Nonsense_Mutation_p.Q321*	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	321	Thyroglobulin type-1.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCTGGATCTGGATGCGCTCC	0.652000													8	39					0	0	0.004482	0	0
KRT9	3857	broad.mit.edu	37	17	39724523	39724523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39724523C>T	ENST00000246662.4	-	6	1350	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	KRT9_ENST00000588431.1_Missense_Mutation_p.E196K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	429	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.E429Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACTCGATCTCTTGCCGGACG	0.537000													13	57					0	0	0.001368	0	0
OR2G3	81469	broad.mit.edu	37	1	247769773	247769773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:247769773G>A	ENST00000320002.2	+	1	918	c.886G>A	c.(886-888)Gat>Aat	p.D296N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAACAAGGATATGAAAGA	0.418000													13	63					0	0	0.001855	0	0
NLRC5	84166	broad.mit.edu	37	16	57056215	57056215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57056215C>T	ENST00000436936.1	+	4	568	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q115*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q115*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q115*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	115					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)				ACCTGAATCTCAGCTCCACCA	0.602000													4	19					0	0	0.000248	0	0
C4orf51	646603	broad.mit.edu	37	4	146653646	146653646	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:146653646T>C	ENST00000438731.1	+	6	543	c.543T>C	c.(541-543)tcT>tcC	p.S181S	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	181										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TTTGCTCATCTGAGGATTCAG	0.502000													8	22					0	0	0.004482	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51957508C>T	ENST00000321424.3	-	6	1276	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E311K|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E295K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	404					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E404Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597000													16	102					0	0	0.007413	0	0
C22orf31	25770	broad.mit.edu	37	22	29456719	29456719	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:29456719T>C	ENST00000216071.4	-	2	167	c.116A>G	c.(115-117)aAc>aGc	p.N39S		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	39										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CATCCAGATGTTGGTGAGAGC	0.498000													27	124					0	0	0.002445	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703807	60703807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:60703807G>A	ENST00000005286.4	+	11	2656	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E834K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	834	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ggaagaggaggaggagATGGT	0.607000													40	107					0	0	0.008740	0	0
TMEM52	339456	broad.mit.edu	37	1	1849479	1849479	+	Missense_Mutation	SNP	C	C	T	rs141967299		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:1849479C>T	ENST00000378602.3	-	2	667	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TMEM52_ENST00000310991.3_Missense_Mutation_p.D158N			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	158						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACAGCTTCATCGTAGGAGGGT	0.632000													27	127					0	0	0.002096	0	0
TRAV2	28691	broad.mit.edu	37	14	22180973	22180973	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22180973G>A	ENST00000390424.2	+	0	255																											CAGCAGGGACGATACAACATG	0.512000													38	151					0	0	0.007835	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364705	142364705	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142364705G>A	ENST00000390397.2	+	0	376																											TGCCACCAGTGATTTGCACAG	0.512000													12	52					0	0	0.001368	0	0
ZNF878	729747	broad.mit.edu	37	19	12155515	12155515	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:12155515T>A	ENST00000602107.1	-	5	841	c.842A>T	c.(841-843)aAa>aTa	p.K281I	ZNF878_ENST00000547628.1_Missense_Mutation_p.K234I|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAAAAGGCTTTCCCACATAT	0.398000													13	54					0	0	0.002450	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232712	50232712	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:50232712G>A	ENST00000333924.4	-	2	362	c.321C>T	c.(319-321)ctC>ctT	p.L107L	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	107	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TGTCGCAGCAGAGGAGACGGA	0.483000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	48					0	0	0.001368	0	0
MRPL10	124995	broad.mit.edu	37	17	45901815	45901815	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:45901815A>G	ENST00000290208.7	-	5	1024	c.572T>C	c.(571-573)aTt>aCt	p.I191T	MRPL10_ENST00000351111.2_Missense_Mutation_p.I181T|MRPL10_ENST00000414011.1_Missense_Mutation_p.I191T			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	181					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGTGTCATCAATGCAGCCACC	0.537000													7	56					0	0	0.006214	0	0
OR10J1	26476	broad.mit.edu	37	1	159409881	159409881	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:159409881G>A	ENST00000423932.3	+	1	370	c.333G>A	c.(331-333)caG>caA	p.Q111Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	111					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTGCCACACAGATGTTCTTTT	0.488000													8	47					0	0	0.004482	0	0
SATB2	23314	broad.mit.edu	37	2	200188671	200188671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:200188671G>A	ENST00000443023.1	-	8	2685	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	SATB2_ENST00000428695.1_Missense_Mutation_p.S348L|SATB2_ENST00000417098.1_Missense_Mutation_p.S466L|SATB2_ENST00000260926.5_Missense_Mutation_p.S466L|SATB2_ENST00000457245.1_Missense_Mutation_p.S466L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	466						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCGGTGTCGAGGTTTTGGC	0.453000													18	85					0	0	0.008871	0	0
DHX57	90957	broad.mit.edu	37	2	39090550	39090550	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:39090550T>C	ENST00000295373.6	-	3	462	c.336A>G	c.(334-336)aaA>aaG	p.K112K	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGAGAAGAGCTTTCACTTTCT	0.393000													17	90					0	0	0.004990	0	0
KLHL32	114792	broad.mit.edu	37	6	97561827	97561827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:97561827G>A	ENST00000369261.4	+	7	1159	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	KLHL32_ENST00000536676.1_Missense_Mutation_p.E230K|KLHL32_ENST00000539200.1_Missense_Mutation_p.E197K|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	266										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGAGGCCCTGGAATACCACCA	0.527000													9	45					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9082689	9082689	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9082689G>A	ENST00000397910.4	-	1	9329	c.9126C>T	c.(9124-9126)ttC>ttT	p.F3042F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3043	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGGAAAGGAAGCTTGTTT	0.483000													25	67					0	0	0.003330	0	0
ENOX1	55068	broad.mit.edu	37	13	43930157	43930157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:43930157G>A	ENST00000261488.6	-	8	1298	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	ENOX1_ENST00000540032.1_Missense_Mutation_p.H54Y|ENOX1_ENST00000412891.1_Missense_Mutation_p.H241Y	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	241					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGCGCCGGTGCCGCTCCTCC	0.612000													24	104					0	0	0.003330	0	0
MRS2	57380	broad.mit.edu	37	6	24423265	24423265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:24423265C>T	ENST00000378386.3	+	10	1301	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	MRS2_ENST00000535061.1_Missense_Mutation_p.P353L|MRS2_ENST00000378353.1_Missense_Mutation_p.P403L|MRS2_ENST00000443868.2_Missense_Mutation_p.P406L|MRS2_ENST00000543597.1_Missense_Mutation_p.P112L|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	403					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CTAGAAGCTCCATTGCCTCCT	0.478000													14	109					0	0	0.003163	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845751	106845751	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:106845751C>T	ENST00000276185.4	+	16	4581	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1527						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCTGCTCCATCCGCTACTGCT	0.572000													18	36					0	0	0.007413	0	0
LINGO2	158038	broad.mit.edu	37	9	27949742	27949742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:27949742G>A	ENST00000379992.2	-	6	1377	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R310C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	310						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAATGGTGCGAAGCTGGGCC	0.522000													14	67					0	0	0.003163	0	0
FN1	2335	broad.mit.edu	37	2	216232655	216232655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:216232655C>T	ENST00000354785.4	-	42	7318	c.6949G>A	c.(6949-6951)Gaa>Aaa	p.E2317K	FN1_ENST00000359671.1_Missense_Mutation_p.E2226K|FN1_ENST00000446046.1_Missense_Mutation_p.E2170K|FN1_ENST00000432072.2_Missense_Mutation_p.E2107K|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000323926.6_Missense_Mutation_p.E2286K|FN1_ENST00000336916.4_Missense_Mutation_p.E2195K|FN1_ENST00000443816.1_Missense_Mutation_p.E2105K|FN1_ENST00000421182.1_Missense_Mutation_p.E2080K|FN1_ENST00000357867.4_Missense_Mutation_p.E2016K|FN1_ENST00000345488.5_Missense_Mutation_p.E2024K|FN1_ENST00000356005.4_Missense_Mutation_p.E2136K|FN1_ENST00000346544.3_Intron			P02751	FINC_HUMAN	fibronectin 1	2226	Fibrin-binding 2.|Fibronectin type-I 12.				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)	AAGCCTGATTCAGACATTCGT	0.463000													9	44					0	0	0.004482	0	0
PSG6	5675	broad.mit.edu	37	19	43411093	43411093	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:43411093G>A	ENST00000187910.2	-	5	1286	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	PSG6_ENST00000292125.2_Silent_p.S407S|PSG6_ENST00000402603.4_Silent_p.S314S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGACTATCATGGATTTGGAGA	0.443000													56	176					0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	38939119	38939119	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:38939119A>G	ENST00000355481.4	+	10	1056	c.925A>G	c.(925-927)Aag>Gag	p.K309E	RYR1_ENST00000360985.3_Missense_Mutation_p.K309E|RYR1_ENST00000359596.3_Missense_Mutation_p.K309E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	309	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCACACCAAGGCTACCTC	0.652000													29	115					0	0	0.002445	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988476	36988476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:36988476C>T	ENST00000518149.1	-	2	692	c.87G>A	c.(85-87)atG>atA	p.M29I	NKX2-1_ENST00000522719.2_Missense_Mutation_p.M29I|NKX2-1_ENST00000354822.5_Missense_Mutation_p.M59I|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.M29I			P43699	NKX21_HUMAN	NK2 homeobox 1	29					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CGCCGCCCTCCATGCCCACTT	0.667000			A		NSCLC								5	19					0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141760126C>T	ENST00000475668.2	+	34	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1359S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1359	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATTTTCCTGATGTTGT	0.438000													7	36					0	0	0.001984	0	0
CFAP54	144535	broad.mit.edu	37	12	97043723	97043723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:97043723C>T	ENST00000524981.3	+	2	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F				Q6ZTY8	CL063_HUMAN		7										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GAAAATATGTCCAAGACACAA	0.303000													5	36					0	0	0.000602	0	0
PDE6C	5146	broad.mit.edu	37	10	95372614	95372614	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:95372614C>T	ENST00000371447.3	+	1	270	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	44					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGGTGCCAGTCCAGTCCAGCA	0.587000													16	78					0	0	0.003163	0	0
DMRT3	58524	broad.mit.edu	37	9	990637	990637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:990637C>T	ENST00000190165.2	+	2	1089	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	351					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CAACGTTGTCCCCAGTCCCTT	0.592000													9	45					0	0	0.008291	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426484	6426484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:6426484C>T	ENST00000449001.2	+	7	1170	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.H258Y|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.H258Y|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.H258Y	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	258	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCAGCGGTTCCACCCCTATGT	0.587000													9	47					0	0	0.004482	0	0
VWA5A	4013	broad.mit.edu	37	11	123989280	123989280	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:123989280A>G	ENST00000456829.2	+	6	761	c.510A>G	c.(508-510)atA>atG	p.I170M	VWA5A_ENST00000392748.1_Missense_Mutation_p.I170M|VWA5A_ENST00000360334.4_Missense_Mutation_p.I170M|VWA5A_ENST00000361352.5_Missense_Mutation_p.I170M|VWA5A_ENST00000392744.4_Missense_Mutation_p.I186M|VWA5A_ENST00000449321.1_Missense_Mutation_p.I170M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	170										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTCCTATAGTCCCTGTGG	0.478000													27	93					0	0	0.003954	0	0
APEH	327	broad.mit.edu	37	3	49713214	49713214	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:49713214C>T	ENST00000296456.5	+	4	760	c.360C>T	c.(358-360)ttC>ttT	p.F120F	APEH_ENST00000438011.1_Silent_p.F120F	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	120					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAAGCAGTTCCTGGAGGTGA	0.587000													22	47					0	0	0.002299	0	0
STK11IP	114790	broad.mit.edu	37	2	220471783	220471783	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:220471783C>T	ENST00000456909.1	+	13	1233	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	STK11IP_ENST00000295641.10_Silent_p.V392V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	392					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCGAGTCCGTGTGAGGC	0.577000													9	35					0	0	0.008291	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029410	41029410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41029410G>A	ENST00000244669.2	+	2	519	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	159					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATGTGGGAGGAGCCGGAGAT	0.537000													19	82					0	0	0.008871	0	0
KLHL13	90293	broad.mit.edu	37	X	117043590	117043590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:117043590C>T	ENST00000371876.1	-	4	3308	c.887G>A	c.(886-888)gGa>gAa	p.G296E	KLHL13_ENST00000371882.1_Missense_Mutation_p.G296E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G331E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G296E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G347E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G296E|KLHL13_ENST00000539496.1_Missense_Mutation_p.G350E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G305E|KLHL13_ENST00000541812.1_Missense_Mutation_p.G331E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	347	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G347V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTCAGCACTCCTCCTAGTGT	0.498000													11	43					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179614318	179614318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179614318G>A	ENST00000360870.5	-	46	13031	c.12809C>T	c.(12808-12810)tCc>tTc	p.S4270F	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	416							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)			CTGATCTCTGGAATATTTTCC	0.383000													6	51					0	0	0.001168	0	0
KPNA1	3836	broad.mit.edu	37	3	122156098	122156098	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:122156098C>T	ENST00000344337.6	-	11	1217	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	347	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTGGGCTACTCAGCAAATGCA	0.343000													13	56					0	0	0.001855	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147567	42147567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:42147567C>T	ENST00000320955.6	-	55	9505	c.9278G>A	c.(9277-9279)aGg>aAg	p.R3093K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3093					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCTCCGCCCTCCGCAGCAG	0.692000													7	41					0	0	0.003080	0	0
VPS13C	54832	broad.mit.edu	37	15	62209763	62209763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:62209763C>T	ENST00000261517.5	-	60	7905	c.7832G>A	c.(7831-7833)tGg>tAg	p.W2611*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.W2611*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.W2568*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.W2568*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2611					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTCCTTCCAGGAAATATA	0.413000													10	55					0	0	0.008291	0	0
ST18	9705	broad.mit.edu	37	8	53084844	53084844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53084844C>T	ENST00000276480.7	-	10	1260	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	193						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTACTTTCATTGTCATCA	0.438000													7	51					0	0	0.001984	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140229995G>A	ENST00000378122.3	+	1	2639	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E639K|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAAACGGACGC	0.667000													5	53					0	0	0.001168	0	0
APBA1	320	broad.mit.edu	37	9	72082853	72082853	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:72082853G>A	ENST00000265381.4	-	5	1590	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	456					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGATTCCATCGATCAAGTCTT	0.562000													49	142					0	0	0.003610	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110638855	110638855	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:110638855G>A	ENST00000243501.5	-	3	567	c.300C>T	c.(298-300)atC>atT	p.I100I	PLA2G12A_ENST00000502283.1_Silent_p.I98I|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	100					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		TCAGGGAAGGGATACCAATGT	0.408000													14	77					0	0	0.003163	0	0
MTHFR	4524	broad.mit.edu	37	1	11854540	11854540	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:11854540G>A	ENST00000376592.1	-	7	1350	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	MTHFR_ENST00000376583.3_Silent_p.L449L|MTHFR_ENST00000376585.1_Silent_p.L449L|MTHFR_ENST00000376590.3_Silent_p.L408L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	408					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTGCTCTTCAGGTAGAAGAGG	0.567000													20	80					0	0	0.001882	0	0
DOCK8	81704	broad.mit.edu	37	9	441916	441916	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:441916C>T	ENST00000432829.2	+	42	5509	c.5193C>T	c.(5191-5193)ttC>ttT	p.F1731F	DOCK8_ENST00000382329.1_Silent_p.F1266F|DOCK8_ENST00000453981.1_Silent_p.F1799F|DOCK8_ENST00000469391.1_Silent_p.F1699F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1799	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGTTGGTTTCTTTGGATCCA	0.408000													17	62					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9060313	9060313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9060313C>T	ENST00000397910.4	-	3	27336	c.27133G>A	c.(27133-27135)Gga>Aga	p.G9045R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9047	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCTAGGTCCTCTGCTAGAG	0.498000													6	59					0	0	0.001168	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589876	140589876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140589876C>T	ENST00000239450.2	+	1	1586	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P129L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		466	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGCCCCGCCCTGCAC	0.637000													12	84					0	0	0.002450	0	0
MRAP2	112609	broad.mit.edu	37	6	84798852	84798852	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:84798852T>G	ENST00000257776.4	+	4	405	c.270T>G	c.(268-270)ttT>ttG	p.F90L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	90					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAACAGCTTTGTGTCAGACT	0.433000													6	46					0	0	0.003080	0	0
ATP1B4	23439	broad.mit.edu	37	X	119504679	119504679	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:119504679G>A	ENST00000218008.3	+	3	495	c.438G>A	c.(436-438)acG>acA	p.T146T	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Silent_p.T142T	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	146					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAACCTTCACGGAGCGGGTAA	0.478000													53	93					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179582511	179582511	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179582511T>A	ENST00000589042.1	-	87	25314	c.25090A>T	c.(25090-25092)Aga>Tga	p.R8364*	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R8047*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R7120*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8047	Ig-like 66.						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)			TTCAGTTTTCTTGCAAAGAAA	0.408000													7	12					0	0	0.001984	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:211179661C>T	ENST00000352451.3	-	1	253	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000													96	164					0	0	0.003610	0	0
ADCY7	113	broad.mit.edu	37	16	50335009	50335009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:50335009G>A	ENST00000394697.2	+	10	1592	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	ADCY7_ENST00000566433.2_Missense_Mutation_p.E418K|ADCY7_ENST00000537579.1_Missense_Mutation_p.E418K|ADCY7_ENST00000254235.3_Missense_Mutation_p.E418K|ADCY7_ENST00000538642.1_Missense_Mutation_p.E418K			P51828	ADCY7_HUMAN	adenylate cyclase 7	418					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCACATCACGGAGGCCACGCT	0.652000													7	20					0	0	0.006214	0	0
ZNF831	128611	broad.mit.edu	37	20	57828097	57828097	+	Silent	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57828097A>G	ENST00000371030.2	+	4	4092	c.4092A>G	c.(4090-4092)gaA>gaG	p.E1364E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1364						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGAAGGAAGAGAAGAAGG	0.478000													4	73					0	0	0.000248	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54926004	54926004	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54926004G>A	ENST00000293373.6	+	26	2911	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	NCKAP1L_ENST00000545638.2_Silent_p.K894K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	944					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTGCTTGAAGGAGTTTGTCA	0.438000													7	56					0	0	0.004482	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334316	35334316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35334316G>A	ENST00000373347.1	-	9	2643	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P792L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	792					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCGTCGCGTGGGCAGGGGGA	0.697000													12	26					0	0	0.001368	0	0
CA10	56934	broad.mit.edu	37	17	50212243	50212243	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:50212243C>T	ENST00000340813.6	-	2	504	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CA10_ENST00000285273.4_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			actcaccattctccctcaccc	0.572000													7	56					0	0	0.003080	0	0
SCARA3	51435	broad.mit.edu	37	8	27516292	27516292	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:27516292T>G	ENST00000301904.3	+	5	625	c.605T>G	c.(604-606)cTg>cGg	p.L202R	SCARA3_ENST00000337221.4_Missense_Mutation_p.L202R	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	202					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACAGCTGGCCTGGACCTCTCT	0.602000													6	21					0	0	0.001168	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822773	137822773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:137822773G>A	ENST00000327532.2	-	2	403	c.41C>T	c.(40-42)cCc>cTc	p.P14L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.P14L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	14						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAAAGAGGGGGCCACTGAG	0.632000													28	155					0	0	0.007291	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956243	48956243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:48956243C>T	ENST00000408959.2	-	1	575	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CGACCCCGATCCGGAAGTGAC	0.682000													6	30					0	0	0.001984	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508193	37508193	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:37508193A>T	ENST00000374660.1	+	40	3841	c.3742A>T	c.(3742-3744)Aaa>Taa	p.K1248*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.K1129*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.K1129*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTGAAGGAAAAACAAGACAA	0.373000													10	77					0	0	0.006214	0	0
MICAL2	9645	broad.mit.edu	37	11	12270761	12270761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:12270761C>T	ENST00000256194.4	+	22	3103	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y	MICAL2_ENST00000537344.1_Missense_Mutation_p.H749Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H749Y|MICAL2_ENST00000342902.5_Intron|MICAL2_ENST00000527546.1_Missense_Mutation_p.H749Y	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	939						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		gttccattttcatcccagcca	0.468000													9	39					0	0	0.004482	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001140	121001140	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:121001140A>G	ENST00000273666.6	+	20	2409	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N713S|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N713S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	713					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGCCTGTCTAACTTTTATCCT	0.388000													7	42					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34080129	34080129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:34080129C>T	ENST00000373381.4	-	40	6284	c.6108G>A	c.(6106-6108)tgG>tgA	p.W2036*	CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCTATTTTCCAGGAGCAGT	0.567000													4	26					0	0	0.000248	0	0
PENK	5179	broad.mit.edu	37	8	57354009	57354009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:57354009C>T	ENST00000314922.3	-	2	702	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R209Q	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	209					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCGCTTCTGCAG	0.522000													39	102					0	0	0.004878	0	0
HAP1	9001	broad.mit.edu	37	17	39883689	39883689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39883689G>A	ENST00000310778.5	-	9	1301	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	HAP1_ENST00000393939.2_Intron|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Intron|HAP1_ENST00000347901.4_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	431	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGCAGCTGGGAACCCACCCA	0.627000													8	48					0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109859073	109859073	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:109859073T>C	ENST00000356711.2	+	35	5592	c.5466T>C	c.(5464-5466)gcT>gcC	p.A1822A	MYO16_ENST00000357550.2_Silent_p.A1822A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1822					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCACCACGCTGAGCCCAGGG	0.602000													12	43					0	0	0.000978	0	0
SCN1A	6323	broad.mit.edu	37	2	166905438	166905438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:166905438C>T	ENST00000423058.2	-	7	1003	c.986G>A	c.(985-987)gGt>gAt	p.G329D	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G329D|SCN1A_ENST00000303395.4_Missense_Mutation_p.G329D|SCN1A_ENST00000409050.1_Missense_Mutation_p.G329D	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATCTAAAAAACCCTCCAGGAA	0.338000													8	32					0	0	0.004482	0	0
CALB1	793	broad.mit.edu	37	8	91090658	91090658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:91090658C>T	ENST00000265431.3	-	3	355	c.174G>A	c.(172-174)atG>atA	p.M58I	CALB1_ENST00000518457.1_Start_Codon_SNP_p.M1I	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	58	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAAAAGTTTTCATTTCAGGTG	0.299000													15	110					0	0	0.004990	0	0
WNK2	65268	broad.mit.edu	37	9	96030989	96030989	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:96030989C>A	ENST00000297954.4	+	18	3994	c.3994C>A	c.(3994-3996)Cca>Aca	p.P1332T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P944T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P944T|WNK2_ENST00000395477.2_Missense_Mutation_p.P1332T			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1332					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ATCTTCGCCCCCACTTCCTCT	0.617000													6	14					0.000157383	0.000179388	0.003080	1	0
TBPL2	387332	broad.mit.edu	37	14	55902631	55902631	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:55902631G>A	ENST00000247219.5	-	3	700	c.630C>T	c.(628-630)aaC>aaT	p.N210N		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	210					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TACAGGCCAGGTTTACAGTGG	0.299000													6	44					0	0	0.003080	0	0
TENM3	55714	broad.mit.edu	37	4	183652127	183652127	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183652127T>G	ENST00000511685.1	+	16	2925	c.2802T>G	c.(2800-2802)aaT>aaG	p.N934K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N934K					teneurin transmembrane protein 3																		TTCCATGGAATGTCTTTTATG	0.433000													4	37					0	0	0.000248	0	0
GPR97	222487	broad.mit.edu	37	16	57718373	57718373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57718373G>A	ENST00000333493.4	+	10	1395	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	GPR97_ENST00000450388.3_Missense_Mutation_p.E292K|GPR97_ENST00000327655.6_Missense_Mutation_p.E202K|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	412					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGTGATAGGGAGAACCGCAC	0.632000													8	26					0	0	0.004482	0	0
ITIH2	3698	broad.mit.edu	37	10	7786863	7786863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:7786863G>A	ENST00000358415.4	+	19	2684	c.2518G>A	c.(2518-2520)Gac>Aac	p.D840N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D829N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	840					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTCAATGTTGACTTTCTGGG	0.433000													15	58					0	0	0.006122	0	0
ASXL3	80816	broad.mit.edu	37	18	31320151	31320151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:31320151G>A	ENST00000269197.5	+	11	2783	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATAAGCAAGGGAGTACACAG	0.403000													13	44					0	0	0.001855	0	0
PKIA	5569	broad.mit.edu	37	8	79510760	79510760	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:79510760C>T	ENST00000396418.2	+	3	627	c.141C>T	c.(139-141)atC>atT	p.I47I	PKIA_ENST00000518467.1_Silent_p.I47I|PKIA_ENST00000352966.5_Silent_p.I47I	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	47							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GTCTTGATATCAACAAGACAG	0.408000													14	78					0	0	0.004007	0	0
COL3A1	1281	broad.mit.edu	37	2	189875011	189875011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:189875011C>T	ENST00000304636.3	+	49	4101	c.3931C>T	c.(3931-3933)Cca>Tca	p.P1311S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P1008S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1311	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTGAATGTTCCACGGAAACA	0.433000													12	55					0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	170055365	170055365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170055365G>A	ENST00000263816.3	-	45	8794	c.8509C>T	c.(8509-8511)Cct>Tct	p.P2837S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2837	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAAACGCGAGGAATACAAATA	0.358000													8	17					0	0	0.004482	0	0
C1orf173	127254	broad.mit.edu	37	1	75039065	75039065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:75039065C>T	ENST00000326665.5	-	14	2547	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	777	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTCATCTTCCTCCATTGCT	0.488000													16	94					0	0	0.004990	0	0
TRAF5	7188	broad.mit.edu	37	1	211545679	211545679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:211545679C>T	ENST00000261464.5	+	11	1363	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	TRAF5_ENST00000336184.2_Missense_Mutation_p.R437C|TRAF5_ENST00000367004.3_Missense_Mutation_p.R437C|TRAF5_ENST00000427925.2_Missense_Mutation_p.R331C	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	437	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTACACCAGCCGCTGTGGCTA	0.537000													43	75					0	0	0.008740	0	0
DSG3	1830	broad.mit.edu	37	18	29046577	29046577	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:29046577A>C	ENST00000257189.4	+	11	1579	c.1496A>C	c.(1495-1497)aAa>aCa	p.K499T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	499	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTCCTCGAAAAAGATGCAGTT	0.423000													24	99					0	0	0.003954	0	0
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:120475079G>A	ENST00000355622.6	+	3	774	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E185K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	225					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000													12	48					0	0	0.000978	0	0
RMND5A	64795	broad.mit.edu	37	2	86979111	86979111	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:86979111C>T	ENST00000283632.4	+	3	873	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	126	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGGAGCACTTCTTTCGACAAG	0.483000													5	40					0	0	0.001168	0	0
TLR4	7099	broad.mit.edu	37	9	120470847	120470847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:120470847C>T	ENST00000355622.6	+	2	201	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	34					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.P34S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCAGGTGGTTCCTAATATTAC	0.463000													16	53					0	0	0.004007	0	0
TICAM1	148022	broad.mit.edu	37	19	4817259	4817259	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:4817259G>A	ENST00000248244.5	-	2	1360	c.1131C>T	c.(1129-1131)acC>acT	p.T377T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	377					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGAGGGGGTCAGGTGAG	0.557000													12	57					0	0	0.001368	0	0
RNF123	63891	broad.mit.edu	37	3	49749921	49749921	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:49749921C>T	ENST00000327697.6	+	27	2650	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	RNF123_ENST00000432042.1_Silent_p.L690L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	836						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGAGAAGATGCTGGACATCTA	0.627000													4	29					0	0	0.000248	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709827	26709827	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:26709827C>T	ENST00000529632.2	+	9	2170	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	SEZ6L_ENST00000343706.4_Silent_p.I658I|SEZ6L_ENST00000248933.6_Silent_p.I658I|SEZ6L_ENST00000404234.3_Silent_p.I658I|SEZ6L_ENST00000360929.3_Silent_p.I658I|SEZ6L_ENST00000403121.1_Silent_p.I431I|SEZ6L_ENST00000402979.1_Silent_p.I431I	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	658	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTGGAAGATCCACGTGGGAG	0.493000													19	90					0	0	0.006122	0	0
ZNF445	353274	broad.mit.edu	37	3	44488387	44488387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44488387G>A	ENST00000425708.2	-	7	3117	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	ZNF445_ENST00000396077.2_Missense_Mutation_p.R926C			P59923	ZN445_HUMAN	zinc finger protein 445	926					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCGGGCTACGTTCAGCCTGT	0.498000													20	80					0	0	0.008871	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392629	22392629	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22392629G>A	ENST00000390440.2	+	0	227																											AGTGATCAAAGTTATGGTCTA	0.463000													15	73					0	0	0.006122	0	0
OR5L2	26338	broad.mit.edu	37	11	55594874	55594874	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55594874C>T	ENST00000378397.1	+	1	180	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCCGTGTACTTTTTCCTCA	0.463000										HNSCC(27;0.073)			32	188					0	0	0.004289	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023298	93023298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:93023298C>T	ENST00000523629.1	-	5	944	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E137K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E175K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E137K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E127K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E127K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E164K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E127K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E127K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	164	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAATGAAATTCTTCAATTGTC	0.323000													8	54					0	0	0.006214	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439658	145439658	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:145439658C>T	ENST00000511217.1	+	8	1837	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.S595S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	595							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATCCACTCCGCGGCCAGCT	0.632000													11	43					0	0	0.001368	0	0
APOBR	55911	broad.mit.edu	37	16	28508738	28508738	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:28508738G>A	ENST00000564831.1	+	2	2409	c.2376G>A	c.(2374-2376)tcG>tcA	p.S792S	APOBR_ENST00000328423.5_Silent_p.S783S|APOBR_ENST00000431282.1_Silent_p.S783S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	783	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCTGGGACTCGAAAGAAAAGG	0.592000													6	22					0	0	0.001984	0	0
OR5A1	219982	broad.mit.edu	37	11	59211024	59211024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:59211024C>T	ENST00000302030.2	+	1	408	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CGATATGCAGCCATCTCCAGC	0.537000													20	221					0	0	0.001882	0	0
FKBP8	23770	broad.mit.edu	37	19	18649187	18649187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:18649187G>A	ENST00000597960.2	-	5	731	c.611C>T	c.(610-612)gCt>gTt	p.A204V	FKBP8_ENST00000222308.3_Missense_Mutation_p.A204V|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Missense_Mutation_p.A203V|FKBP8_ENST00000453489.2_Missense_Mutation_p.A232V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	203	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCCGTCCACAGCCGTCTTCAG	0.701000													7	37					0	0	0.001984	0	0
RTTN	25914	broad.mit.edu	37	18	67671411	67671411	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:67671411G>A	ENST00000255674.6	-	49	6943	c.6657C>T	c.(6655-6657)ctC>ctT	p.L2219L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2219							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGAGCTGCACGAGGTTTTCAA	0.413000													8	39					0	0	0.006214	0	0
POLR2A	5430	broad.mit.edu	37	17	7415630	7415630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7415630C>T	ENST00000322644.6	+	26	4858	c.4459C>T	c.(4459-4461)Ccc>Tcc	p.P1487S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1487					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATGGAGATCCCCACCAATAT	0.642000													10	45					0	0	0.001368	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602939	37602939	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:37602939G>A	ENST00000399151.3	+	14	1942	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	619					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGGAAGAAGGGCGGGAGCA	0.542000													13	97					0	0	0.002450	0	0
SCARB1	949	broad.mit.edu	37	12	125298774	125298774	+	Missense_Mutation	SNP	T	T	C	rs141478587		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:125298774T>C	ENST00000339570.5	-	4	800	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SCARB1_ENST00000541205.1_Missense_Mutation_p.K161E|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.K202E|SCARB1_ENST00000376788.1_Missense_Mutation_p.K102E|SCARB1_ENST00000540495.1_Missense_Mutation_p.K165E|SCARB1_ENST00000544327.1_Missense_Mutation_p.K148E|SCARB1_ENST00000546215.1_Missense_Mutation_p.K202E|SCARB1_ENST00000261693.6_Missense_Mutation_p.K202E	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	202					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AACTTGTCCTTGAAGGGGAAC	0.527000													15	89					0	0	0.004007	0	0
CRLF2	64109	broad.mit.edu	37	X	1325440	1325440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:1325440C>T	ENST00000381567.3	-	3	234	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.G79S	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	79						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAAGTGTGACCTTCCTGGAGA	0.502000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								11	60					0	0	0.000978	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440172	73440172	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:73440172A>C	ENST00000263666.4	-	6	1464	c.1350T>G	c.(1348-1350)agT>agG	p.S450R	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S167R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S107R|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S107R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S172R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	450	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTTGTACCTCACTGATATAAA	0.443000													46	155					0	0	0.003610	0	0
MIOX	55586	broad.mit.edu	37	22	50926360	50926360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:50926360G>A	ENST00000395732.3	+	4	245	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MIOX_ENST00000395733.3_Missense_Mutation_p.E75K|MIOX_ENST00000216075.6_Missense_Mutation_p.E75K			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	75					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAGTCATGGAGGCCGTGGA	0.612000													7	46					0	0	0.003080	0	0
GJA4	2701	broad.mit.edu	37	1	35260119	35260119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35260119G>A	ENST00000342280.4	+	2	393	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	102					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGTCTCGGCGAGAAGAGCGG	0.662000													6	36					0	0	0.001984	0	0
OR4D1	26689	broad.mit.edu	37	17	56232981	56232981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56232981C>T	ENST00000268912.5	+	1	488	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTGTCCACTCCATTGTCCAA	0.532000													15	48					0	0	0.003163	0	0
RIMS1	22999	broad.mit.edu	37	6	73108726	73108726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:73108726G>A	ENST00000264839.7	+	29	4337	c.4337G>A	c.(4336-4338)cGa>cAa	p.R1446Q	RIMS1_ENST00000523963.1_Missense_Mutation_p.R722Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R731Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R403Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1380Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.R124Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1247Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1196Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1386Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1597Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R665Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1276Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R917Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1380Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1597					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R1597Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAATTGCACGAAAAACCCTT	0.353000													13	30					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	89990344	89990344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:89990344G>A	ENST00000405460.2	+	33	7867	c.7771G>A	c.(7771-7773)Gaa>Aaa	p.E2591K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2591					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATACTTCCGAAGATGGCTT	0.458000													42	195					0	0	0.003610	0	0
DHCR7	1717	broad.mit.edu	37	11	71146863	71146863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71146863G>A	ENST00000355527.3	-	9	1262	c.986C>T	c.(985-987)cCc>cTc	p.P329L	DHCR7_ENST00000407721.2_Missense_Mutation_p.P329L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	329					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGCTGCACGGGGTGGTACAC	0.687000									Smith-Lemli-Opitz syndrome				14	27					0	0	0.002450	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971629	79971629	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:79971629A>T	ENST00000466387.1	+	7	943	c.219A>T	c.(217-219)gaA>gaT	p.E73D	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E73D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E73D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E73D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E73D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E107D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	73					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATTTCCTGGAAAAGGGTGAAC	0.458000													11	26					0	0	0.008291	0	0
CACNA1B	774	broad.mit.edu	37	9	140851251	140851251	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:140851251G>A	ENST00000371372.1	+	9	1360	c.1215G>A	c.(1213-1215)agG>agA	p.R405R	CACNA1B_ENST00000371363.1_Silent_p.R405R|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.R405R|CACNA1B_ENST00000371355.4_Silent_p.R405R|CACNA1B_ENST00000371357.1_Silent_p.R405R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	405					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGAGGACAGGAATGCAGAGG	0.617000													14	58					0	0	0.003163	0	0
TENM3	55714	broad.mit.edu	37	4	183651352	183651352	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183651352G>A	ENST00000511685.1	+	15	2708		c.e15-1		TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site					teneurin transmembrane protein 3																		TTTTCCAACAGCCTTGCATCT	0.373000													15	62					0	0	0.003163	0	0
NLGN2	57555	broad.mit.edu	37	17	7318850	7318850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7318850C>T	ENST00000302926.2	+	6	1131	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P353L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	353					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCTTTGGGCCCGTGGTGGAT	0.612000													7	45					0	0	0.001984	0	0
CASZ1	54897	broad.mit.edu	37	1	10708004	10708004	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:10708004G>A	ENST00000377022.3	-	16	3668	c.3351C>T	c.(3349-3351)ctC>ctT	p.L1117L	CASZ1_ENST00000344008.5_Silent_p.L1117L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1117	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCTTCCAGGCGAGCAGGGTGG	0.687000													12	50					0	0	0.000978	0	0
XPO7	23039	broad.mit.edu	37	8	21848334	21848334	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:21848334T>C	ENST00000434536.1	+	18	2074	c.1972T>C	c.(1972-1974)Tca>Cca	p.S658P	XPO7_ENST00000252512.9_Missense_Mutation_p.S649P|XPO7_ENST00000433566.4_Missense_Mutation_p.S650P			Q9UIA9	XPO7_HUMAN	exportin 7	649					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CGAGCACTTTTCATTTTTGGG	0.418000													30	169					0	0	0.001786	0	0
MDN1	23195	broad.mit.edu	37	6	90421914	90421914	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:90421914G>A	ENST00000369393.3	-	49	7607	c.7492C>T	c.(7492-7494)Ctg>Ttg	p.L2498L	MDN1_ENST00000428876.1_Silent_p.L2498L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2498					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGAATTTCAGGTTCTCAGGG	0.398000													32	107					0	0	0.003755	0	0
SNAP25	6616	broad.mit.edu	37	20	10273890	10273890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:10273890G>A	ENST00000254976.2	+	5	456	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	82					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACGGACCTAGGAAAATTCTGC	0.458000													12	47					0	0	0.001368	0	0
CDON	50937	broad.mit.edu	37	11	125889648	125889648	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:125889648A>C	ENST00000392693.3	-	4	489	c.362T>G	c.(361-363)tTt>tGt	p.F121C	CDON_ENST00000263577.7_Missense_Mutation_p.F121C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	121	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGATGAACCAAAATCACCAAG	0.358000													14	25					0	0	0.001855	0	0
IQSEC3	440073	broad.mit.edu	37	12	247543	247543	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:247543C>T	ENST00000538872.1	+	4	1132	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	IQSEC3_ENST00000382841.2_Silent_p.I35I|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.I338I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	338	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.I338I(1)|p.I35I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCGAGAAAATCCGCAACTCGC	0.632000													4	26					0	0	0.000248	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703888	7703888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:7703888C>T	ENST00000340209.4	+	9	1141	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	RBFOX1_ENST00000552089.1_Missense_Mutation_p.R294C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R320C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R297C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R320C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R250C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R297C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R297C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R277C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R277C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R234C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	277					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGCCGCGGTCGCACCGTGTA	0.731000													9	40					0	0	0.004482	0	0
OR51D1	390038	broad.mit.edu	37	11	4661907	4661907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4661907C>T	ENST00000357605.2	+	1	963	c.887C>T	c.(886-888)cCa>cTa	p.P296L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTGCTACCACCTGTAGTC	0.522000													23	129					0	0	0.002780	0	0
SEZ6	124925	broad.mit.edu	37	17	27308743	27308743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:27308743G>A	ENST00000317338.12	-	2	798	c.370C>T	c.(370-372)Cca>Tca	p.P124S	SEZ6_ENST00000360295.9_Missense_Mutation_p.P124S|SEZ6_ENST00000442608.3_Missense_Mutation_p.P124S|SEZ6_ENST00000335960.6_Missense_Mutation_p.P124S|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	124	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCATGGCTGGAGTGGGGCTG	0.647000													6	37					0	0	0.001984	0	0
CRMP1	1400	broad.mit.edu	37	4	5868434	5868434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:5868434G>A	ENST00000324989.7	-	2	519	c.431C>T	c.(430-432)tCc>tTc	p.S144F	CRMP1_ENST00000397890.2_Missense_Mutation_p.S30F|CRMP1_ENST00000512574.1_Missense_Mutation_p.S28F|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	30					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGCATAAAGGGATTGGTCATC	0.473000													23	63					0	0	0.005443	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54730003	54730003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:54730003G>A	ENST00000355221.3	-	5	953	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R132C|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R132C|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R92C	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	132					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGATCCTGGCGATTCAACATT	0.368000													7	35					0	0	0.001984	0	0
POLR3D	661	broad.mit.edu	37	8	22107734	22107734	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:22107734C>T	ENST00000397802.4	+	7	1283	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	POLR3D_ENST00000306433.4_Silent_p.F356F			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	356					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGCTCCTTCCTGCAGGTAA	0.557000													8	42					0	0	0.004482	0	0
CUZD1	50624	broad.mit.edu	37	10	124593224	124593224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:124593224G>A	ENST00000368904.1	-	10	2564	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	CUZD1_ENST00000545804.1_Missense_Mutation_p.R539C|CUZD1_ENST00000392790.1_Missense_Mutation_p.R539C			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	539					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTTCAGACGAATGGGTCCT	0.423000													26	97					0	0	0.008361	0	0
UTRN	7402	broad.mit.edu	37	6	144844169	144844169	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:144844169G>A	ENST00000367545.3	+	40	5751	c.5751G>A	c.(5749-5751)ctG>ctA	p.L1917L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1917					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGACCAACTGGACAAACTTG	0.353000													8	30					0	0	0.004482	0	0
CRELD2	79174	broad.mit.edu	37	22	50320941	50320941	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:50320941C>A	ENST00000404488.3	+	11	1330	c.1195C>A	c.(1195-1197)Cgc>Agc	p.R399S	CRELD2_ENST00000328268.4_Missense_Mutation_p.R350S|CRELD2_ENST00000403427.3_Missense_Mutation_p.R322S|CRELD2_ENST00000407217.3_Missense_Mutation_p.R318S	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	350						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCCCTCCCGCGAAGACCT	0.547000													5	130					0.00198382	0.00224869	0.001984	1	0
LY6K	54742	broad.mit.edu	37	8	143784712	143784712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:143784712G>A	ENST00000292430.6	+	3	838	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.G199S			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	141	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGGAGCATGGGTGAGAGCTG	0.542000													14	77					0	0	0.003163	0	0
HECTD4	283450	broad.mit.edu	37	12	112699194	112699194	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:112699194G>A	ENST00000550722.1	-	18	2745	c.2350C>T	c.(2350-2352)Ctg>Ttg	p.L784L	HECTD4_ENST00000377560.5_Silent_p.L748L|HECTD4_ENST00000430131.2_Silent_p.L498L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATCCAGTCAGGATTTGGGTG	0.413000													21	69					0	0	0.003330	0	0
TIPIN	54962	broad.mit.edu	37	15	66633495	66633495	+	Silent	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:66633495T>A	ENST00000261881.4	-	7	760	c.675A>T	c.(673-675)ctA>ctT	p.L225L	TIPIN_ENST00000367709.4_Silent_p.L124L	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	225					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TACCATTTCCTAGGGTCTGAC	0.358000													21	97					0	0	0.002780	0	0
HCP5	10866	broad.mit.edu	37	6	31431687	31431687	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31431687C>T	ENST00000414046.2	+	0	759					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						catgcctcctcctggggatca	0.582000													12	95					0	0	0.000978	0	0
MYH2	4620	broad.mit.edu	37	17	10428919	10428919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:10428919C>T	ENST00000245503.5	-	32	4770	c.4386G>A	c.(4384-4386)tgG>tgA	p.W1462*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.W1462*|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1462					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						ATTTCTGTTTCCATTCTGCCA	0.473000													9	37					0	0	0.006214	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310397	61310397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:61310397G>A	ENST00000341074.5	-	3	335	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.H74Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGACTCACATGATATGTTGCA	0.408000													6	25					0	0	0.001984	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239944	6239944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6239944G>A	ENST00000265978.4	-	8	1679	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R441C|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R441C	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	441					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACATCACGAACAGCCGGC	0.542000													32	135					0	0	0.002836	0	0
CSMD1	64478	broad.mit.edu	37	8	3045479	3045479	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3045479C>T	ENST00000602557.1	-	37	6090	c.5535G>A	c.(5533-5535)gtG>gtA	p.V1845V	CSMD1_ENST00000539096.1_Silent_p.V1844V|CSMD1_ENST00000400186.3_Silent_p.V1845V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.V1845V|CSMD1_ENST00000537824.1_Silent_p.V1844V|CSMD1_ENST00000520002.1_Silent_p.V1845V|CSMD1_ENST00000542608.1_Silent_p.V1844V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1845	CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAAACTGATCACTTGGATCT	0.433000													5	26					0	0	0.000602	0	0
COL24A1	255631	broad.mit.edu	37	1	86289269	86289269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:86289269C>T	ENST00000370571.2	-	45	4105	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1247K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1247	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGGTTCGCCCTTTAGT	0.313000													11	54					0	0	0.001368	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329826	21329826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:21329826G>A	ENST00000256958.2	+	5	572	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	159					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GAGATAGTGGGAAAAGGTAAG	0.259000													6	37					0	0	0.001984	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416266	88416266	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:88416266A>T	ENST00000418378.1	-	4	639	c.68T>A	c.(67-69)tTa>tAa	p.L23*	SPARCL1_ENST00000503414.1_5'UTR|SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.L23*	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	23					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATCAGATAATAATCTTGCATT	0.338000													12	75					0	0	0.001368	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550131	27550131	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:27550131G>A	ENST00000359541.2	-	18	2859	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	GTF3C2_ENST00000264720.3_Silent_p.L810L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	810						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTCTACGGAGCAGATCAT	0.512000													7	36					0	0	0.003080	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:72190579C>T	ENST00000555818.1	+	16	4835	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S950F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1496					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1496F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATAAACTCCGTGGGATTT	0.478000													21	76					0	0	0.001523	0	0
SALL1	6299	broad.mit.edu	37	16	51174572	51174572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:51174572G>A	ENST00000440970.1	-	2	1701	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P521S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	521					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTACTCGTGGGGATATTGTCC	0.517000													7	63					0	0	0.004482	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356460	16356460	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:16356460G>A	ENST00000375692.1	+	15	1426	c.1297_splice	c.e15-1	p.G433_splice	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Splice_Site_p.G390_splice|CLCNKA_ENST00000420078.1_Splice_Site_p.G433_splice|CLCNKA_ENST00000331433.4_Splice_Site_p.G433_splice			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	433					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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)	Niflumic Acid(DB04552)	CTGTGGCCAGGAGCTGCCATC	0.642000													12	59					0	0	0.001368	0	0
ADAM33	80332	broad.mit.edu	37	20	3651787	3651787	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3651787G>A	ENST00000356518.2	-	19	2347	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ADAM33_ENST00000350009.2_Silent_p.F676F|ADAM33_ENST00000379861.4_Silent_p.F702F|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	702					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCCAGCAGGAAGGTGTCAT	0.662000													4	17					0	0	0.000248	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059449	152059449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:152059449C>T	ENST00000368806.1	-	3	773	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	237							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGCTGGTTCATCTCCTTCC	0.463000													16	84					0	0	0.004007	0	0
LOC440040	440040	broad.mit.edu	37	11	49831565	49831565	+	RNA	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:49831565C>G	ENST00000527477.1	+	0	1790																											AGGAGGGACTCTTTAGTCTTG	0.453000													11	23					0	0	0.008291	0	0
IL1R2	7850	broad.mit.edu	37	2	102626052	102626052	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102626052G>A	ENST00000332549.3	+	3	325	c.96G>A	c.(94-96)ggG>ggA	p.G32G	IL1R2_ENST00000441002.1_Silent_p.G32G|IL1R2_ENST00000393414.2_Silent_p.G32G	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	32	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GGTTTCGTGGGAGGCATTACA	0.602000													25	120					0	0	0.003954	0	0
GKAP1	80318	broad.mit.edu	37	9	86383828	86383828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:86383828C>T	ENST00000376371.2	-	8	1043	c.643G>A	c.(643-645)Gat>Aat	p.D215N	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	215					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TGAACATCATCTTCCAGTCTA	0.338000													10	44					0	0	0.008291	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136434	40136434	+	Missense_Mutation	SNP	C	C	T	rs74858686	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:40136434C>T	ENST00000278198.2	-	2	3372	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R470Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R470Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R470Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	470					regulation of axonogenesis	integral to membrane	protein binding	p.R470Q(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCTGTGGTCCGTGCCTCATC	0.517000													13	67					0	0	0.001855	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222932	140222932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140222932C>T	ENST00000531613.1	+	1	2026	c.2026C>T	c.(2026-2028)Cca>Tca	p.P676S	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P676S|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGGCTCCAAAAGCGTC	0.637000													21	71					0	0	0.001523	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390613	52390613	+	RNA	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:52390613C>G	ENST00000443374.1	+	0	1306																											CATAGGGTGTCTGCTCAATTT	0.423000													3	12					0	0	0.004672	0	0
MALT1	10892	broad.mit.edu	37	18	56390422	56390422	+	Silent	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:56390422T>G	ENST00000348428.3	+	10	1419	c.1161T>G	c.(1159-1161)acT>acG	p.T387T	MALT1_ENST00000345724.3_Silent_p.T376T|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	387	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGGATCTTACTGAATATGAGA	0.383000			T	BIRC3	MALT								7	52					0	0	0.004482	0	0
BIRC8	112401	broad.mit.edu	37	19	53793219	53793219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:53793219G>A	ENST00000426466.1	-	1	1656	c.409C>T	c.(409-411)Caa>Taa	p.Q137*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	137					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CCAGATGTTTGAATTCTTTCC	0.373000													15	96					0	0	0.003163	0	0
GABRE	2564	broad.mit.edu	37	X	151128326	151128326	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151128326T>A	ENST00000370325.1	-	6	822	c.769A>T	c.(769-771)Atc>Ttc	p.I257F	GABRE_ENST00000393914.3_Missense_Mutation_p.I64F|GABRE_ENST00000370328.3_Missense_Mutation_p.I257F			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTTGTGATTATTTCAGTT	0.448000													17	17					0	0	0.007413	0	0
UBR4	23352	broad.mit.edu	37	1	19494556	19494556	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:19494556G>A	ENST00000375267.2	-	28	3867	c.3864C>T	c.(3862-3864)ctC>ctT	p.L1288L	UBR4_ENST00000375254.3_Silent_p.L1288L|UBR4_ENST00000375217.2_Silent_p.L1288L|UBR4_ENST00000375226.2_Silent_p.L1288L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1288					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAGTGAGAGGAGGGTATGCT	0.498000													22	106					0	0	0.002299	0	0
RNH1	6050	broad.mit.edu	37	11	498091	498091	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:498091A>T	ENST00000534797.1	-	7	2414	c.1007T>A	c.(1006-1008)gTg>gAg	p.V336E	RNH1_ENST00000356187.5_Missense_Mutation_p.V336E|RNH1_ENST00000533410.1_Missense_Mutation_p.V336E|RNH1_ENST00000354420.2_Missense_Mutation_p.V336E|RNH1_ENST00000397604.3_Missense_Mutation_p.V336E|RNH1_ENST00000397614.1_Missense_Mutation_p.V336E|RNH1_ENST00000438658.2_Missense_Mutation_p.V336E|RNH1_ENST00000397615.2_Missense_Mutation_p.V336E			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	336					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGCCAGCACTGAGCTGAA	0.652000													10	54					0	0	0.006214	0	0
ST18	9705	broad.mit.edu	37	8	53038684	53038684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53038684G>A	ENST00000276480.7	-	23	3366	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	895						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATTGAGAGGACATCCA	0.363000													6	51					0	0	0.001168	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560427	32560427	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:32560427C>T	ENST00000427288.1	+	8	1105	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000373634.4_Silent_p.L125L|TMEM39B_ENST00000336294.5_Silent_p.L324L|TMEM39B_ENST00000487305.1_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	324						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAACTCTTCCTGCTGGTGTC	0.582000													17	80					0	0	0.007413	0	0
ALK	238	broad.mit.edu	37	2	29450451	29450451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:29450451G>A	ENST00000389048.3	-	17	3809	c.2903C>T	c.(2902-2904)cCa>cTa	p.P968L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P968Q(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTTTAAAGCTGGGGTGTACAG	0.517000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				30	107					0	0	0.002096	0	0
USP54	159195	broad.mit.edu	37	10	75289647	75289647	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:75289647T>C	ENST00000339859.4	-	14	1951	c.1851A>G	c.(1849-1851)gaA>gaG	p.E617E	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.E467E|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.E617E|USP54_ENST00000408019.1_Silent_p.E617E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	617					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTTGCTTGGTTCATCTGGTA	0.463000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	63					0	0	0.008291	0	0
ITK	3702	broad.mit.edu	37	5	156655358	156655358	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:156655358C>T	ENST00000422843.3	+	7	852	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	234					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAAATAATCTGGAAACCTA	0.294000			T	SYK	peripheral T-cell lymphoma								61	262					0	0	0.003610	0	0
TRAV2	28691	broad.mit.edu	37	14	22180939	22180939	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22180939C>T	ENST00000390424.2	+	0	221																											ACCAAGACTCCTTGTTAAAGG	0.502000													33	189					0	0	0.006230	0	0
CDH18	1016	broad.mit.edu	37	5	19473723	19473723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:19473723C>T	ENST00000507958.1	-	15	2975	c.1985G>A	c.(1984-1986)gGa>gAa	p.G662E	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.G662E|CDH18_ENST00000274170.4_Missense_Mutation_p.G662E			Q13634	CAD18_HUMAN	cadherin 18, type 2	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCTCCGCCTCCTTCATCATC	0.498000													36	143					0	0	0.003755	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561654	11561654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:11561654G>A	ENST00000294484.6	+	2	743	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R202Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	202					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGAGCGGGCGACTTCGGCGT	0.687000													8	25					0	0	0.004482	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351549	42351549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42351549C>T	ENST00000269945.3	+	2	104	c.53C>T	c.(52-54)cCc>cTc	p.P18L	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.P18L	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	18					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GACTCTGCCCCCTGGGATGAG	0.632000													19	106					0	0	0.002299	0	0
GLI3	2737	broad.mit.edu	37	7	42004227	42004227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:42004227G>A	ENST00000395925.3	-	15	4528	c.4444C>T	c.(4444-4446)Cca>Tca	p.P1482S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1482					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTAGCACCTGGGGAAAGTAAC	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				19	44					0	0	0.002299	0	0
SNHG12	85028	broad.mit.edu	37	1	28907136	28907136	+	RNA	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:28907136T>G	ENST00000488745.1	-	0	1035				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							AAAATCACCTTCTGTCATCTT	0.433000													6	16					0	0	0.001168	0	0
AGL	178	broad.mit.edu	37	1	100316674	100316674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:100316674G>A	ENST00000294724.4	+	2	554	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	AGL_ENST00000361302.3_5'UTR|AGL_ENST00000370163.3_Missense_Mutation_p.E26K|AGL_ENST00000361915.3_Missense_Mutation_p.E26K|AGL_ENST00000370165.3_Missense_Mutation_p.E26K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	26					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTCAGACTTGAACAAGGTCA	0.348000													11	51					0	0	0.001855	0	0
INPPL1	3636	broad.mit.edu	37	11	71948480	71948480	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71948480C>T	ENST00000298229.2	+	26	3396	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F	INPPL1_ENST00000541756.1_Silent_p.F822F|INPPL1_ENST00000538751.1_Silent_p.F822F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1064	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCATCTTCCTGCCCCCCA	0.662000													18	61					0	0	0.001523	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460392	107460392	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:107460392G>A	ENST00000409382.3	-	2	652	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ST6GAL2_ENST00000361686.4_Silent_p.F14F|ST6GAL2_ENST00000409087.3_Silent_p.F14F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	14					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGAATATTCCGAAAAGCATTC	0.512000													12	53					0	0	0.001855	0	0
SCAF1	58506	broad.mit.edu	37	19	50156263	50156263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50156263C>T	ENST00000360565.3	+	7	2741	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	873					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCGCGAGAGTCGCTCCCCCTT	0.652000													6	35					0	0	0.001168	0	0
VARS	7407	broad.mit.edu	37	6	31753402	31753402	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31753402G>A	ENST00000375663.3	-	9	1649	c.1209C>T	c.(1207-1209)agC>agT	p.S403S	VARS_ENST00000444930.2_Silent_p.S108S	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	403					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGGTGCCGGCTCAGTCCCT	0.622000													44	233					0	0	0.003610	0	0
CERS6	253782	broad.mit.edu	37	2	169312971	169312971	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:169312971T>C	ENST00000305747.6	+	1	600	c.13T>C	c.(13-15)Tta>Cta	p.L5L	CERS6_ENST00000392687.4_Silent_p.L5L	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	5						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCAGGGATCTTAGCCTGGTT	0.667000													10	48					0	0	0.000978	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947246	57947246	+	Silent	SNP	C	C	T	rs139179075	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:57947246C>T	ENST00000335397.3	+	3	646	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGGTTCCATCGACTGCTACC	0.562000													29	52					0	0	0.001786	0	0
PAMR1	25891	broad.mit.edu	37	11	35461194	35461194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:35461194G>A	ENST00000378880.2	-	8	1526	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	PAMR1_ENST00000532848.1_Missense_Mutation_p.P321S|PAMR1_ENST00000378878.3_Missense_Mutation_p.P250S|PAMR1_ENST00000278360.3_Missense_Mutation_p.P378S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	361					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCTGCATCGGAAGAACTCTC	0.463000													22	113					0	0	0.008361	0	0
ADORA2A	135	broad.mit.edu	37	22	24837103	24837103	+	Silent	SNP	C	C	T	rs17650937	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:24837103C>T	ENST00000337539.7	+	3	1344	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	295					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCGCGAGTTCCGCCAGACCT	0.597000													9	46					0	0	0.006214	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96447961G>A	ENST00000285979.6	+	3	610	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.G137G	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGGGATGGGGAAGAGGAGCA	0.473000													12	70					0	0	0.001855	0	0
OR52E2	119678	broad.mit.edu	37	11	5080094	5080094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5080094G>A	ENST00000321522.2	-	1	763	c.764C>T	c.(763-765)cCa>cTa	p.P255L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAAGAGGGCTGGTGTATAGAA	0.473000													12	70					0	0	0.001368	0	0
MXRA5	25878	broad.mit.edu	37	X	3227829	3227829	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:3227829G>A	ENST00000217939.6	-	7	8569	c.8415C>T	c.(8413-8415)gcC>gcT	p.A2805A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2805	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTAGAAGCCGGCATCTCTCT	0.488000													8	15					0	0	0.004482	0	0
OR5D13	390142	broad.mit.edu	37	11	55541318	55541318	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55541318C>T	ENST00000361760.1	+	1	405	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTGTATACCACTATTATGT	0.418000													34	225					0	0	0.004878	0	0
ISX	91464	broad.mit.edu	37	22	35478635	35478635	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:35478635G>A	ENST00000308700.6	+	2	1306	c.354G>A	c.(352-354)agG>agA	p.R118R	ISX_ENST00000404699.2_Silent_p.R118R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TGGCAGCCAGGATCAACCTCC	0.572000													10	30					0	0	0.000978	0	0
ASH2L	9070	broad.mit.edu	37	8	37968341	37968341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:37968341C>T	ENST00000343823.6	+	5	884	c.575C>T	c.(574-576)tCc>tTc	p.S192F	ASH2L_ENST00000521652.1_Missense_Mutation_p.S98F|ASH2L_ENST00000545394.1_Missense_Mutation_p.S53F|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.S98F|ASH2L_ENST00000250635.7_Missense_Mutation_p.S98F	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	192					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAATGTTCTCCAAAGATAAG	0.398000													7	27					0	0	0.001984	0	0
CCDC116	164592	broad.mit.edu	37	22	21988630	21988630	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:21988630G>C	ENST00000292779.3	+	3	553	c.392G>C	c.(391-393)aGc>aCc	p.S131T		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	131										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGCCTCAGCACCGTACAC	0.657000													14	84					0	0	0.006122	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118921	54118921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54118921G>A	ENST00000548263.1	-	2	154	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L36F|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.L36F|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L36F|CALCOCO1_ENST00000547885.1_5'UTR			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	36	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGGGGGAAGGGTGTAGTGA	0.537000													14	62					0	0	0.003163	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293530	120293530	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120293530C>T	ENST00000369406.3	-	9	1471	c.1420_splice	c.e9-1	p.V474_splice	HMGCS2_ENST00000544913.2_Splice_Site_p.V432_splice	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	474					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGAGAAATTCACTGTGGAAT	0.498000													39	148					0	0	0.007835	0	0
TRIM3	10612	broad.mit.edu	37	11	6472626	6472626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6472626G>A	ENST00000525074.1	-	8	1970	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R526*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R448*|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R526*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R407*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	526					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R526*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGTCCTCGGACCCCAAAA	0.582000													31	78					0	0	0.001786	0	0
BRINP1	1620	broad.mit.edu	37	9	122075489	122075489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:122075489G>A	ENST00000265922.3	-	2	606	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	DBC1_ENST00000373964.2_Missense_Mutation_p.H49Y	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		49					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGGAGTGGTGGAAAGGCCCC	0.502000													20	51					0	0	0.007413	0	0
ADAM18	8749	broad.mit.edu	37	8	39502882	39502882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39502882G>A	ENST00000265707.5	+	11	980	c.935G>A	c.(934-936)gGa>gAa	p.G312E	ADAM18_ENST00000379866.1_Missense_Mutation_p.G288E|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	312	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTTGGAGGGATTTTCGGTT	0.313000													10	50					0	0	0.008291	0	0
LPAR4	2846	broad.mit.edu	37	X	78011344	78011344	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:78011344C>T	ENST00000435339.2	+	2	1383	c.978C>T	c.(976-978)gcC>gcT	p.A326A	LPAR4_ENST00000373301.2_Silent_p.A326A	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	326						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACATCAATGCCCACATCAGAA	0.423000													13	32					0	0	0.003163	0	0
NLRP7	199713	broad.mit.edu	37	19	55450331	55450331	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55450331T>G	ENST00000588756.1	-	6	2342	c.1856A>C	c.(1855-1857)aAa>aCa	p.K619T	NLRP7_ENST00000328092.5_Missense_Mutation_p.K619T|NLRP7_ENST00000592784.1_Missense_Mutation_p.K619T|NLRP7_ENST00000590030.1_Missense_Mutation_p.K619T|NLRP7_ENST00000340844.2_Missense_Mutation_p.K619T|NLRP7_ENST00000448121.2_Missense_Mutation_p.K619T|NLRP7_ENST00000446217.1_Missense_Mutation_p.K647T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	619							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGTGAGAGTTTCTGCAAGTC	0.443000													4	51					0	0	0.000248	0	0
NCKAP5	344148	broad.mit.edu	37	2	133538682	133538682	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:133538682T>C	ENST00000409261.1	-	15	5365	c.4992A>G	c.(4990-4992)ggA>ggG	p.G1664G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Silent_p.G1664G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1664							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTGTGGTTTCCTTGAGTAC	0.453000													6	23					0	0	0.001984	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825389	131825389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:131825389C>T	ENST00000359827.3	-	30	6369	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1803N			Q9HCM2	PLXA4_HUMAN	plexin A4	1803						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGGATGTCCTTGGCATAC	0.602000													14	45					0	0	0.004990	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926716	130926716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:130926716G>A	ENST00000261655.4	-	8	1293	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.S285L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S285L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	377	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCTCATCCGAGCTGCCCCT	0.642000													13	40					0	0	0.001368	0	0
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:12655755C>T	ENST00000425538.1	+	10	1350	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_ENST00000343344.4_Nonsense_Mutation_p.R384*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.R288*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453000													6	48					0	0	0.001984	0	0
TRBV30	28557	broad.mit.edu	37	7	142510322	142510322	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142510322G>A	ENST00000417977.2	-	0	395																											GAGCTTCTTAGAACTCAGGAT	0.557000													5	13					0	0	0.000602	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386569	56386569	+	Missense_Mutation	SNP	C	C	T	rs139202824	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56386569C>T	ENST00000355701.3	-	22	4934	c.4064G>A	c.(4063-4065)cGa>cAa	p.R1355Q	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1355Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1295Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1355						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCAGGGTCTCGGGAAGAACA	0.612000													7	42					0	0	0.001984	0	0
MYH9	4627	broad.mit.edu	37	22	36715637	36715637	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:36715637G>A	ENST00000216181.5	-	10	1286	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	352	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTTGAAGACGATGTTGCCGA	0.592000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	32					0	0	0.003080	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933677	62933677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62933677C>T	ENST00000306494.6	-	7	1123	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	375					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AACATTGTTTCCCAGATGCTG	0.478000													4	41					0	0	0.000248	0	0
IDO1	3620	broad.mit.edu	37	8	39776385	39776385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39776385G>A	ENST00000518237.1	+	4	994	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	IDO1_ENST00000522495.1_Missense_Mutation_p.E119K|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	119					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)	CAAGAAACTGGAACTGCCTCC	0.358000													16	62					0	0	0.004007	0	0
LIPC	3990	broad.mit.edu	37	15	58855829	58855829	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:58855829C>G	ENST00000414170.3	+	9	1582	c.1295C>G	c.(1294-1296)aCg>aGg	p.T432R	LIPC_ENST00000299022.5_Missense_Mutation_p.T432R|LIPC_ENST00000433326.2_Missense_Mutation_p.T371R|LIPC_ENST00000356113.6_Missense_Mutation_p.T432R			P11150	LIPC_HUMAN	lipase, hepatic	432	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTCTGGGACACGGTCCAGACC	0.532000													5	27					0	0	0.000602	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87280199	87280199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:87280199G>A	ENST00000338056.3	+	2	595	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E62K|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E62K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	62	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTTCTCCTGAATTTAACAA	0.353000													8	33					0	0	0.006214	0	0
PDE7B	27115	broad.mit.edu	37	6	136470276	136470276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:136470276C>T	ENST00000308191.6	+	5	673	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	124					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CTTGTTTGATCGCTTGACAAA	0.338000													9	35					0	0	0.006214	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959290	73959290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:73959290C>T	ENST00000373468.1	-	4	5152	c.4501G>A	c.(4501-4503)Gtt>Att	p.V1501I	KIAA2022_ENST00000055682.5_Missense_Mutation_p.V1501I			Q5QGS0	K2022_HUMAN	KIAA2022	1501					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAGGTAAAACCCAAAAGGTT	0.358000													4	10					0	0	0.000248	0	0
CACNG3	10368	broad.mit.edu	37	16	24373110	24373110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:24373110C>T	ENST00000005284.3	+	4	2076	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	292					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCTACAGTTCCACAATTCCAC	0.562000													24	57					0	0	0.003330	0	0
SAG	6295	broad.mit.edu	37	2	234247353	234247353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:234247353G>A	ENST00000409110.1	+	12	1206	c.976G>A	c.(976-978)Gga>Aga	p.G326R	SAG_ENST00000449594.2_Missense_Mutation_p.G192R	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	326					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GACCGTCCTGGGAATCCTGGT	0.552000													13	68					0	0	0.004007	0	0
SEC23B	10483	broad.mit.edu	37	20	18541303	18541303	+	Silent	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:18541303A>G	ENST00000336714.3	+	20	2655	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	SEC23B_ENST00000377475.3_Silent_p.G741G|SEC23B_ENST00000262544.2_Silent_p.G741G|SEC23B_ENST00000377465.1_Silent_p.G741G	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	741					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGGAAACTGGAGCACCCATCC	0.438000													25	99					0	0	0.007291	0	0
PARD3	56288	broad.mit.edu	37	10	34573160	34573160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:34573160G>A	ENST00000374789.3	-	21	3413	c.3088C>T	c.(3088-3090)Cga>Tga	p.R1030*	PARD3_ENST00000545693.1_Nonsense_Mutation_p.R1014*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R940*|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R970*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R984*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R1027*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1030	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCTTTTCGATGTTTGCCA	0.338000													13	76					0	0	0.001368	0	0
OR13C9	286362	broad.mit.edu	37	9	107380371	107380371	+	Missense_Mutation	SNP	G	G	A	rs150686997	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:107380371G>A	ENST00000259362.1	-	1	114	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TTCCCCAGAAGGATGACCACA	0.433000													9	64					0	0	0.008291	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6948886	6948886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrY:6948886G>A	ENST00000383032.1	+	14	1716	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	TBL1Y_ENST00000355162.2_Missense_Mutation_p.G357R|TBL1Y_ENST00000346432.3_Missense_Mutation_p.G357R	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	357					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AACCTTCCAGGGACACACAGT	0.488000													11	9					0	0	0.000978	0	0
XIRP1	165904	broad.mit.edu	37	3	39227520	39227520	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:39227520C>T	ENST00000340369.3	-	2	3645	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1139							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGATGCCATCCTGAATTGTCA	0.617000													9	91					0	0	0.008291	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433461	72433461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:72433461G>A	ENST00000373517.3	-	1	1223	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	NAP1L2_ENST00000536638.1_Missense_Mutation_p.H148Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	290					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGTTTGAAGTGAAATTCTAGT	0.383000													13	18					0	0	0.001368	0	0
UNC13C	440279	broad.mit.edu	37	15	54307828	54307828	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:54307828T>A	ENST00000545554.1	+	1	2728	c.2728T>A	c.(2728-2730)Tat>Aat	p.Y910N	UNC13C_ENST00000260323.11_Missense_Mutation_p.Y910N|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y910N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	910					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCACCTTTCATATGAAACACC	0.383000													18	83					0	0	0.008871	0	0
ABHD4	63874	broad.mit.edu	37	14	23078744	23078744	+	Silent	SNP	C	C	T	rs150961383	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:23078744C>T	ENST00000428304.2	+	6	937	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	289					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TCTACGGGTCCGACACCTGGA	0.517000													19	51					0	0	0.007413	0	0
F10	2159	broad.mit.edu	37	13	113795286	113795286	+	Missense_Mutation	SNP	G	G	A	rs61753266	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:113795286G>A	ENST00000375559.3	+	5	462	c.424G>A	c.(424-426)Gag>Aag	p.E142K	F10_ENST00000409306.1_Missense_Mutation_p.E142K|F10_ENST00000375551.3_Missense_Mutation_p.E142K	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	142	EGF-like 2.		E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCTGCCACGAGGAACAGAA	0.612000													14	69					0	0	0.003163	0	0
RORB	6096	broad.mit.edu	37	9	77275589	77275589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77275589G>A	ENST00000376896.2	+	5	1306	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	RORB_ENST00000396204.2_Missense_Mutation_p.E243K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	243	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATACACCATGGAAGAGCTGCA	0.403000													15	88					0	0	0.002450	0	0
CDH23	64072	broad.mit.edu	37	10	73468967	73468967	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73468967C>T	ENST00000224721.6	+	26	3239	c.3235_splice	c.e26+1	p.I1078_splice		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1073	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGAGGCCATCGGTATGCACC	0.607000													10	40					0	0	0.001368	0	0
IQUB	154865	broad.mit.edu	37	7	123097526	123097526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:123097526C>T	ENST00000466202.1	-	12	2678	c.2102G>A	c.(2101-2103)tGg>tAg	p.W701*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.W701*|RP11-332K15.1_ENST00000419832.1_RNA			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	701										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGATTTATTCCATCTGACCAT	0.473000													18	117					0	0	0.001523	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	G	A	rs147186440		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:115527431G>A	ENST00000369522.3	+	30	2885	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_ENST00000369518.1_Missense_Mutation_p.R882K|SYCP1_ENST00000477590.1_Intron	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000													6	76					0	0	0.001168	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:49974850G>A	ENST00000555099.1	+	1	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000													5	35					0	0	0.001168	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583072	141583072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:141583072C>T	ENST00000442267.2	-	10	1852	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	593	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTTGGGATTTCGAAAAGCATA	0.398000													12	26					0	0	0.000978	0	0
MMP13	4322	broad.mit.edu	37	11	102825186	102825186	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:102825186C>T	ENST00000260302.3	-	3	540		c.e3+1		MMP13_ENST00000340273.4_Splice_Site	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)						collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGCATCATTACCCTTAATTCC	0.294000													5	10					0	0	0.000602	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595300	140595300	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140595300C>T	ENST00000341948.4	+	1	1792	c.1605C>T	c.(1603-1605)gaC>gaT	p.D535D		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		535	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D535E(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTCAGACCACGGCTCCC	0.677000													15	52					0	0	0.003163	0	0
TP63	8626	broad.mit.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:189612176G>A	ENST00000264731.3	+	14	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000440651.2_Missense_Mutation_p.R639Q|TP63_ENST00000382063.4_Missense_Mutation_p.R558Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552000										HNSCC(45;0.13)			15	79					0	0	0.004007	0	0
ERBB4	2066	broad.mit.edu	37	2	212495282	212495282	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:212495282A>G	ENST00000342788.4	-	17	2294	c.1984T>C	c.(1984-1986)Ttc>Ctc	p.F662L	ERBB4_ENST00000436443.1_Missense_Mutation_p.F662L|ERBB4_ENST00000402597.1_Missense_Mutation_p.F652L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	662					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F662L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAGAATGAAGAGCCCACCA	0.403000										TSP Lung(8;0.080)			20	65					0	0	0.001882	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532000													20	100					0	0	0.001523	0	0
ANK3	288	broad.mit.edu	37	10	61840357	61840357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61840357C>T	ENST00000280772.1	-	36	4561	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	ANK3_ENST00000503366.1_Missense_Mutation_p.R1449Q|ANK3_ENST00000355288.2_Missense_Mutation_p.R582Q|ANK3_ENST00000373827.2_Missense_Mutation_p.R1442Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1457					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGCTCTGTCGTCTATCTGT	0.388000													6	29					0	0	0.001168	0	0
ZNF638	27332	broad.mit.edu	37	2	71591308	71591308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:71591308C>T	ENST00000409544.1	+	5	2273	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.P548L|ZNF638_ENST00000377802.2_Missense_Mutation_p.P548L|ZNF638_ENST00000355812.3_Missense_Mutation_p.P548L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	548	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTAGAAATCCATTTAGAGGT	0.423000													9	32					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40747136	40747136	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:40747136C>T	ENST00000373198.3	-	22	3190	c.2955G>A	c.(2953-2955)ccG>ccA	p.P985P	PTPRT_ENST00000373190.1_Silent_p.P962P|PTPRT_ENST00000373201.1_Silent_p.P953P|PTPRT_ENST00000373187.1_Silent_p.P963P|PTPRT_ENST00000373193.3_Silent_p.P966P|PTPRT_ENST00000373184.1_Silent_p.P953P|PTPRT_ENST00000356100.2_Silent_p.P972P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	963	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTCCTGCATCGGACCTGCCA	0.537000													23	44					0	0	0.003330	0	0
MCTP2	55784	broad.mit.edu	37	15	95020022	95020022	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:95020022G>A	ENST00000357742.4	+	21	2568	c.2568_splice	c.e21+1	p.K856_splice	MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Splice_Site_p.K801_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	856					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGTTCAAAAGGTATGTAATG	0.448000													9	55					0	0	0.006214	0	0
OR9A4	130075	broad.mit.edu	37	7	141619575	141619575	+	Silent	SNP	C	C	T	rs142578561	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141619575C>T	ENST00000548136.1	+	1	959	c.900C>T	c.(898-900)gcC>gcT	p.A300A	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATAGAGGCCCTTCGGGATG	0.428000													13	68					0	0	0.004990	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797452	106797452	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:106797452C>T	ENST00000265717.4	+	9	1201	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	314					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						ATTCTTTTTTCATTGTAGAAT	0.348000													21	82					0	0	0.001523	0	0
SFMBT2	57713	broad.mit.edu	37	10	7213004	7213004	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:7213004C>T	ENST00000361972.4	-	20	2520	c.2430G>A	c.(2428-2430)gaG>gaA	p.E810E	SFMBT2_ENST00000397167.1_Silent_p.E810E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	810					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCTCCTCCTCCTCCTGTTTCG	0.612000													24	87					0	0	0.003954	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133527	119133527	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:119133527C>T	ENST00000264245.4	+	12	3283	c.2751C>T	c.(2749-2751)ccC>ccT	p.P917P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	917					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGACGAGTCCCCTTCACTCTC	0.607000													22	85					0	0	0.002780	0	0
GGCX	2677	broad.mit.edu	37	2	85788065	85788065	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:85788065C>T	ENST00000233838.3	-	2	167	c.87G>A	c.(85-87)agG>agA	p.R29R	GGCX_ENST00000430215.3_Intron	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	29					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GGCTGTCCTGCCTGGGCCCTG	0.507000													14	212					0	0	0.004007	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919684	12919684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12919684G>A	ENST00000240189.2	+	3	511	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	142										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)		TCCAAGGACGGGAGAGCACCA	0.542000													42	204					0	0	0.007835	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968276	102968276	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102968276C>T	ENST00000233954.1	+	11	1837	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	522	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATAAAAGGTCCCTGAATTCTA	0.512000													7	54					0	0	0.001984	0	0
SERPINA3	12	broad.mit.edu	37	14	95088707	95088707	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:95088707T>A	ENST00000553947.1	+	7	1910	c.1022T>A	c.(1021-1023)tTt>tAt	p.F341Y	SERPINA3_ENST00000482740.1_Missense_Mutation_p.F98Y|SERPINA3_ENST00000393080.4_Missense_Mutation_p.F316Y|SERPINA3_ENST00000393078.3_Missense_Mutation_p.F316Y|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000467132.1_Missense_Mutation_p.F316Y			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	316					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGCCAAAGTTTTCCATCTCG	0.507000													20	47					0	0	0.003330	0	0
FNBP4	23360	broad.mit.edu	37	11	47776089	47776089	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:47776089G>A	ENST00000263773.5	-	3	453	c.441C>T	c.(439-441)aaC>aaT	p.N147N	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	147										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCGCTAGGAAGTTGGCCAATG	0.418000													11	66					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179435133	179435133	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179435133C>T	ENST00000589042.1	-	326	75950	c.75726G>A	c.(75724-75726)gtG>gtA	p.V25242V	TTN_ENST00000342175.6_Silent_p.V16369V|TTN_ENST00000359218.5_Silent_p.V16302V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V23601V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.V16177V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V22674V|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23601	Ig-like 124.						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)			CTCTCCTTTCCACAATATAAT	0.438000													11	33					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10468112	10468112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:10468112C>T	ENST00000382483.3	-	4	3719	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1166					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCAGCTGGTCTTCCCCAACG	0.602000													13	44					0	0	0.001855	0	0
ZG16B	124220	broad.mit.edu	37	16	2881912	2881912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2881912C>T	ENST00000382280.3	+	4	458	c.379C>T	c.(379-381)Caa>Taa	p.Q127*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Q97*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	127						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGTCGCCTTCCAAGCTTTCCT	0.532000													12	50					0	0	0.001855	0	0
WRAP73	49856	broad.mit.edu	37	1	3551600	3551600	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:3551600C>T	ENST00000378322.3	-	8	835	c.777G>A	c.(775-777)acG>acA	p.T259T	WRAP73_ENST00000270708.7_Silent_p.T259T			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	259						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GCCCAAACTCCGTGATCATTT	0.567000													32	150					0	0	0.005524	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217156	150217156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150217156G>A	ENST00000313543.4	+	2	251	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	32							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGAGAGGAAATCTTTGA	0.507000													12	38					0	0	0.000978	0	0
AKAP13	11214	broad.mit.edu	37	15	86284370	86284370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:86284370C>T	ENST00000394518.2	+	35	7797	c.7702C>T	c.(7702-7704)Ctc>Ttc	p.L2568F	AKAP13_ENST00000394510.2_Missense_Mutation_p.L813F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2572F	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2568	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCGAGCTCCCTCATTGAGCA	0.642000													4	21					0	0	0.000248	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139867	40139867	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:40139867G>A	ENST00000325157.6	-	7	1891	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	547										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAACACTAATGGAATTCTTTG	0.423000													7	25					0	0	0.001984	0	0
MPDZ	8777	broad.mit.edu	37	9	13106996	13106996	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:13106996T>C	ENST00000319217.7	-	47	6428	c.6181A>G	c.(6181-6183)Aaa>Gaa	p.K2061E	MPDZ_ENST00000536827.1_Missense_Mutation_p.K1999E|MPDZ_ENST00000541093.1_Missense_Mutation_p.K295E|MPDZ_ENST00000381022.2_Missense_Mutation_p.K2032E|MPDZ_ENST00000538841.1_Missense_Mutation_p.K920E|MPDZ_ENST00000546205.1_Missense_Mutation_p.K2075E|MPDZ_ENST00000447879.1_Missense_Mutation_p.K2028E|MPDZ_ENST00000381015.4_Missense_Mutation_p.K2061E|MPDZ_ENST00000541718.1_Missense_Mutation_p.K2032E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2061	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAGTGCCTTTTGTCCGTTTA	0.488000													31	124					0	0	0.001786	0	0
CCAR2	57805	broad.mit.edu	37	8	22473054	22473054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:22473054C>T	ENST00000308511.4	+	12	1571	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	KIAA1967_ENST00000389279.3_Missense_Mutation_p.A441V|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.A116V			Q8N163	K1967_HUMAN		441					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAGTGGGAGGCCCTGTGCCAG	0.622000													15	107					0	0	0.006122	0	0
FCAR	2204	broad.mit.edu	37	19	55396759	55396759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55396759G>A	ENST00000355524.3	+	3	193	c.183G>A	c.(181-183)atG>atA	p.M61I	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.M49I|FCAR_ENST00000391726.3_Missense_Mutation_p.M49I|FCAR_ENST00000345937.4_Missense_Mutation_p.M61I|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.M49I|FCAR_ENST00000469767.1_Missense_Mutation_p.M61I|FCAR_ENST00000391725.3_Missense_Mutation_p.M61I|FCAR_ENST00000391724.3_Missense_Mutation_p.M49I	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	61	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.M61I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCAGCTGATGATCATAAAAA	0.468000													14	60					0	0	0.002450	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:35826156C>T	ENST00000423537.2	-	2	272	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	52					0	0	0.001368	0	0
WDPCP	51057	broad.mit.edu	37	2	63660906	63660906	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:63660906G>A	ENST00000409120.1	-	3	3772	c.222C>T	c.(220-222)ctC>ctT	p.L74L	WDPCP_ENST00000272321.7_Silent_p.L266L|WDPCP_ENST00000409562.3_Silent_p.L266L|WDPCP_ENST00000409199.1_Silent_p.L74L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Silent_p.L107L			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	266					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CATAACCCAGGAGGAGTAGAT	0.383000													6	39					0	0	0.001984	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:57257937C>T	ENST00000343433.6	-	2	629	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000													13	90					0	0	0.001368	0	0
DOPEY2	9980	broad.mit.edu	37	21	37636076	37636076	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:37636076C>T	ENST00000399151.3	+	26	5536	c.5451C>T	c.(5449-5451)ccC>ccT	p.P1817P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1817					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAAGAACTCCCAACCTGGAAA	0.408000													27	129					0	0	0.002096	0	0
CROCC	9696	broad.mit.edu	37	1	17250864	17250864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:17250864G>A	ENST00000375541.5	+	3	310	c.241G>A	c.(241-243)Gag>Aag	p.E81K	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	81					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GTCGCTGCAGGAGGAGAACCA	0.642000													5	26					0	0	0.000602	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102738085G>A	ENST00000210633.3	+	5	547	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157K|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000													4	17					0	0	0.000602	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35926016	35926016	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35926016G>A	ENST00000325722.3	-	9	1551	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	439	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTACTGAACGATTTTATCAT	0.393000													15	78					0	0	0.003163	0	0
IL36B	27177	broad.mit.edu	37	2	113783714	113783714	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:113783714G>A	ENST00000259213.4	-	5	464	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	119					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						gggttcccatgaagcagctct	0.478000													11	38					0	0	0.001368	0	0
NBEA	26960	broad.mit.edu	37	13	36124729	36124729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:36124729G>A	ENST00000540320.1	+	42	7235	c.6701G>A	c.(6700-6702)cGa>cAa	p.R2234Q	NBEA_ENST00000310336.4_Missense_Mutation_p.R2234Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R2234Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R2231Q|NBEA_ENST00000537702.1_Missense_Mutation_p.R27Q			Q8NFP9	NBEA_HUMAN	neurobeachin	2234						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGCAAACCGAAGTAAGTCC	0.343000													6	36					0	0	0.001168	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090780	91090780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:91090780C>T	ENST00000373094.1	+	1	1122	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PCDH11X_ENST00000361655.2_Missense_Mutation_p.R93C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R93C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R93C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R93C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	93	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCGCATTGATCGTGAGAAATT	0.443000													41	78					0	0	0.002222	0	0
DUOX2	50506	broad.mit.edu	37	15	45398382	45398382	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:45398382G>A	ENST00000389039.6	-	17	2474	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	DUOX2_ENST00000603300.1_Silent_p.L697L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	697					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTTGGACAGGATGAGGTTG	0.602000													4	13					0	0	0.000602	0	0
C10orf2	56652	broad.mit.edu	37	10	102748876	102748876	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102748876G>A	ENST00000370228.1	+	1	1094	c.909G>A	c.(907-909)cgG>cgA	p.R303R	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.R303R	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	303			R -> Q (in PEOA3).|R -> W (in PEOA3; also detected in a case showing digenic inheritance).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTTCCGGCGGATTGTATTCT	0.572000													33	143					0	0	0.002836	0	0
CACNG4	27092	broad.mit.edu	37	17	65027082	65027082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:65027082C>T	ENST00000262138.3	+	4	948	c.946C>T	c.(946-948)Cac>Tac	p.H316Y		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	316					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGAAGGTTTCCACGTCAGCAT	0.612000													16	46					0	0	0.004990	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760752	62760752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62760752C>T	ENST00000336232.2	-	11	1721	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	SLC22A8_ENST00000430500.2_Missense_Mutation_p.R529K|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000535878.1_Missense_Mutation_p.R406K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R438K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	529					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TAGAGGGATCCTCTGGGAGGC	0.612000													13	38					0	0	0.003163	0	0
ACVR1C	130399	broad.mit.edu	37	2	158400965	158400965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:158400965C>T	ENST00000243349.7	-	5	1295	c.935G>A	c.(934-936)gGt>gAt	p.G312D	ACVR1C_ENST00000348328.5_Missense_Mutation_p.G155D|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G262D|ACVR1C_ENST00000335450.7_Missense_Mutation_p.G232D	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	312	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ACCTTGTGTACCAACAATCTC	0.333000													8	44					0	0	0.008291	0	0
CACTIN	58509	broad.mit.edu	37	19	3612182	3612182	+	Silent	SNP	G	G	T	rs147636108	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3612182G>T	ENST00000429344.2	-	10	2068	c.2016C>A	c.(2014-2016)atC>atA	p.I672I	CACTIN_ENST00000221899.3_Silent_p.I604I|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Silent_p.I672I	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		ATCCCTGCACGATCTTGGGCG	0.582000													51	165					1.27862e-28	1.47514e-28	0.003610	1	0
TEX15	56154	broad.mit.edu	37	8	30706271	30706271	+	Missense_Mutation	SNP	G	G	A	rs146070106		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:30706271G>A	ENST00000256246.2	-	1	337	c.263C>T	c.(262-264)tCg>tTg	p.S88L	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	88										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGGTGTCGATTTTATTTC	0.383000													5	34					0	0	0.001168	0	0
USP40	55230	broad.mit.edu	37	2	234442325	234442325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:234442325C>T	ENST00000251722.6	-	11	1385	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	USP40_ENST00000450966.1_Missense_Mutation_p.R435K|USP40_ENST00000427112.2_Missense_Mutation_p.R423K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	423					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGGTCATTCCTTTGGAAATC	0.398000													7	50					0	0	0.001984	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235774	37235774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:37235774G>A	ENST00000233099.5	-	28	4597	c.4502C>T	c.(4501-4503)tCt>tTt	p.S1501F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1501F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1501							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGCTGACTAGAAAATTCGGC	0.378000													5	34					0	0	0.000602	0	0
SCN5A	6331	broad.mit.edu	37	3	38674787	38674787	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:38674787G>A	ENST00000413689.1	-	2	205	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SCN5A_ENST00000451551.2_Silent_p.F4F|SCN5A_ENST00000449557.2_Silent_p.F4F|SCN5A_ENST00000450102.2_Silent_p.F4F|SCN5A_ENST00000414099.2_Silent_p.F4F|SCN5A_ENST00000425664.1_Silent_p.F4F|SCN5A_ENST00000443581.1_Silent_p.F4F|SCN5A_ENST00000333535.4_Silent_p.F4F|SCN5A_ENST00000455624.2_Silent_p.F4F|SCN5A_ENST00000423572.2_Silent_p.F4F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	4					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGTAATAGGAAGTTTGCCA	0.587000													13	48					0	0	0.002450	0	0
ITGA4	3676	broad.mit.edu	37	2	182360653	182360653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:182360653C>T	ENST00000397033.2	+	14	1959	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	510					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGGAAGTTCCAGGTTACATT	0.428000													16	60					0	0	0.004990	0	0
NPTX2	4885	broad.mit.edu	37	7	98254422	98254422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:98254422G>A	ENST00000265634.3	+	3	997	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	278	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGGCCAACGAGATCGTGCT	0.637000													15	60					0	0	0.006122	0	0
ZNF823	55552	broad.mit.edu	37	19	11832642	11832642	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:11832642G>A	ENST00000341191.6	-	4	1860	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	ZNF823_ENST00000545749.1_Silent_p.F387F	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GTCCTCGAAGGAAACGGGAAC	0.428000										HNSCC(68;0.2)			10	48					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61834088	61834088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61834088G>A	ENST00000280772.1	-	37	6742	c.6551C>T	c.(6550-6552)cCc>cTc	p.P2184L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2184					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGGTCTGGGGAACATCCCC	0.448000													20	108					0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82583827	82583827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82583827C>T	ENST00000423517.2	-	5	6779	c.6442G>A	c.(6442-6444)Gat>Aat	p.D2148N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2148N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2079					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTATAATCGGTTACATAT	0.408000													5	53					0	0	0.001168	0	0
UNC13B	10497	broad.mit.edu	37	9	35236569	35236569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:35236569C>T	ENST00000378495.3	+	4	478	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	UNC13B_ENST00000396787.1_Missense_Mutation_p.R86C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R86C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	86					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGACTATTCGTCAGTCGGA	0.498000													25	129					0	0	0.007291	0	0
PIGK	10026	broad.mit.edu	37	1	77635030	77635030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:77635030G>A	ENST00000370812.3	-	4	313	c.290C>T	c.(289-291)cCc>cTc	p.P97L	PIGK_ENST00000370813.5_Intron|PIGK_ENST00000445065.1_Intron|PIGK_ENST00000478391.1_Intron|PIGK_ENST00000359130.1_Missense_Mutation_p.P97L	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	97					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGCTGGTTTGGGATTTCTAGG	0.333000													12	48					0	0	0.001368	0	0
OR2A2	442361	broad.mit.edu	37	7	143806795	143806795	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:143806795G>A	ENST00000408979.2	+	1	189	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGCTGGGGAATGGGGTCA	0.512000													22	120					0	0	0.004656	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166389	161166389	+	Silent	SNP	C	C	T	rs150760814		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:161166389C>T	ENST00000367996.4	-	2	1343	c.915G>A	c.(913-915)tcG>tcA	p.S305S	ADAMTS4_ENST00000367995.3_Silent_p.S305S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	305	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTCAGGGTCCGAGTCCTCAG	0.637000													10	72					0	0	0.001368	0	0
LDB2	9079	broad.mit.edu	37	4	16760786	16760786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:16760786C>T	ENST00000502640.1	-	2	378	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	LDB2_ENST00000304523.5_Missense_Mutation_p.R77Q|LDB2_ENST00000515064.1_Missense_Mutation_p.R77Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R77Q			O43679	LDB2_HUMAN	LIM domain binding 2	77							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTTACTGTATCGCTTTGGTCC	0.428000													8	35					0	0	0.003080	0	0
DZIP3	9666	broad.mit.edu	37	3	108363531	108363531	+	Silent	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:108363531C>A	ENST00000361582.3	+	14	1892	c.1662C>A	c.(1660-1662)ccC>ccA	p.P554P	DZIP3_ENST00000463306.1_Silent_p.P554P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	554					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGGAGAATCCCATTGAGAATA	0.398000													16	68					3.45872e-05	3.94961e-05	0.004007	1	0
LTA	4049	broad.mit.edu	37	6	31541416	31541416	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31541416C>T	ENST00000454783.1	+	4	822	c.564C>T	c.(562-564)atC>atT	p.I188I	LTA_ENST00000418386.2_Silent_p.I188I	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	188					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CAGATGGCATCCCCCACCTAG	0.517000													28	106					0	0	0.004878	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369264	20369264	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:20369264G>A	ENST00000593655.1	-	0	199																											ACTACCCTATGGAAAATGGCA	0.378000													16	70					0	0	0.004007	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21550559	21550559	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:21550559C>T	ENST00000298694.4	+	15	3535	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	ARHGEF40_ENST00000298693.3_Silent_p.F1136F			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1136	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TTCGCAGCTTCCACCGGACAC	0.652000													4	38					0	0	0.000248	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631427	77631427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77631427C>T	ENST00000296043.6	+	3	1395	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	148					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTTAAACTTCGGCTGAAGCA	0.577000													9	30					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179613013	179613013	+	Missense_Mutation	SNP	C	C	T	rs144127396		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179613013C>T	ENST00000360870.5	-	46	14336	c.14114G>A	c.(14113-14115)cGa>cAa	p.R4705Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	814	Ig-like 27.						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)			CTGTACATGTCGGACTTCTTT	0.338000													8	48					0	0	0.003080	0	0
C2orf42	54980	broad.mit.edu	37	2	70387889	70387889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:70387889G>A	ENST00000264434.2	-	9	1763	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	C2orf42_ENST00000420306.1_Nonsense_Mutation_p.Q462*	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	462										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TCTCGGTTCTGGATAAAGCTA	0.428000													6	39					0	0	0.001984	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086776	39086776	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:39086776C>T	ENST00000400482.3	-	3	1273	c.684G>A	c.(682-684)agG>agA	p.R228R	KCNJ6_ENST00000288309.6_Silent_p.R228R	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	228					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGTGGGAATTCCTAAGGTCCC	0.532000													12	50					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	90041427	90041427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:90041427G>A	ENST00000405460.2	+	52	10885	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3597	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E3597K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTGATATTTGAACCTGGTGA	0.313000													9	46					0	0	0.004482	0	0
VAMP7	6845	broad.mit.edu	37	X	155171724	155171724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:155171724C>T	ENST00000262640.6	+	7	787	c.704C>T	c.(703-705)tCa>tTa	p.S235L	VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTCTCTTCAACCCTCTTC	0.383000													3	6					0	0	0.004672	0	0
LRP2	4036	broad.mit.edu	37	2	170002290	170002290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170002290G>A	ENST00000263816.3	-	70	13240	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4319					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAAAGATTCGAACTTGAGTG	0.363000													7	51					0	0	0.003080	0	0
DMBX1	127343	broad.mit.edu	37	1	46978105	46978105	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:46978105A>C	ENST00000371956.4	+	4	1103	c.1088A>C	c.(1087-1089)aAc>aCc	p.N363T	DMBX1_ENST00000360032.3_Missense_Mutation_p.N358T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	363					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCATCGAGAACCTGCGGCTC	0.642000													13	69					0	0	0.001855	0	0
RP1	6101	broad.mit.edu	37	8	55538031	55538031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:55538031C>T	ENST00000220676.1	+	4	1737	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	530					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGAGTCATCATTAGAAAGA	0.333000													9	23					0	0	0.004482	0	0
MRO	83876	broad.mit.edu	37	18	48327733	48327733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:48327733G>A	ENST00000428869.2	-	7	829	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	MRO_ENST00000398439.3_Missense_Mutation_p.P191S|MRO_ENST00000588444.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.P205S|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.P191S			Q9BYG7	MSTRO_HUMAN	maestro	191						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCAACCTGGGGATTTCTGTCC	0.488000													26	155					0	0	0.006320	0	0
PMFBP1	83449	broad.mit.edu	37	16	72157519	72157519	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:72157519G>A	ENST00000537465.1	-	18	2792	c.2634C>T	c.(2632-2634)ccC>ccT	p.P878P	PMFBP1_ENST00000237353.10_Silent_p.P873P|PMFBP1_ENST00000537792.1_Silent_p.P39P|PMFBP1_ENST00000355636.6_Silent_p.P728P			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	878										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGGTGTCTTTGGGCACAGACC	0.547000													14	41					0	0	0.004007	0	0
FAP	2191	broad.mit.edu	37	2	163044741	163044741	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:163044741G>A	ENST00000188790.4	-	20	1959	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L	FAP_ENST00000443424.1_Silent_p.L559L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	584					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTGCATAGAGGAGTTTGTCAC	0.438000													17	72					0	0	0.004990	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740246	106740246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:106740246C>T	ENST00000299045.3	+	10	1672	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	500										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AAATATACTTCGAAAGCTGCT	0.423000													13	38					0	0	0.001855	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817217	69817217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69817217C>T	ENST00000251566.4	-	1	292	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	88						integral to membrane	glucuronosyltransferase activity	p.E88K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAAATATTTCATTTTCTTCT	0.363000													6	45					0	0	0.001168	0	0
ZNF841	284371	broad.mit.edu	37	19	52569737	52569737	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:52569737G>A	ENST00000389534.4	-	7	1857	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.F350F|ZNF841_ENST00000594295.1_Silent_p.F466F	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AACGTTGAAAGAAGACCTTGC	0.413000													4	9					0	0	0.000602	0	0
AFF4	27125	broad.mit.edu	37	5	132262827	132262827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:132262827G>A	ENST00000265343.5	-	5	1415	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.P346S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	346	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGAAAAGGAAATTTGGAA	0.333000													5	35					0	0	0.001168	0	0
NPNT	255743	broad.mit.edu	37	4	106879666	106879666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:106879666G>A	ENST00000379987.2	+	9	1414	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	NPNT_ENST00000506666.1_Intron|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000427316.2_Missense_Mutation_p.E430K|NPNT_ENST00000453617.2_Missense_Mutation_p.E417K|NPNT_ENST00000305572.8_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	400					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAATATTTGAAATAGAAAG	0.388000													6	26					0	0	0.001984	0	0
ALPK2	115701	broad.mit.edu	37	18	56184167	56184167	+	Silent	SNP	G	G	A	rs61732436		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:56184167G>A	ENST00000361673.3	-	9	6126	c.5913C>T	c.(5911-5913)atC>atT	p.I1971I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1971	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGTTCCTTTGGATGAGCTCAT	0.502000													25	133					0	0	0.006320	0	0
CDHR2	54825	broad.mit.edu	37	5	176022617	176022617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:176022617G>A	ENST00000510636.1	+	32	4151	c.3877G>A	c.(3877-3879)Gga>Aga	p.G1293R	CDHR2_ENST00000506348.1_Missense_Mutation_p.G1293R|CDHR2_ENST00000261944.5_Missense_Mutation_p.G1293R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1293					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						AGGCGCAAGTGGACAGCTGGA	0.652000													31	112					0	0	0.002445	0	0
STRIP2	57464	broad.mit.edu	37	7	129091522	129091522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:129091522C>T	ENST00000249344.2	+	4	383	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	STRIP2_ENST00000435494.2_Missense_Mutation_p.R115W	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ACTCTTGGACCGGCTAGAGGT	0.552000													13	57					0	0	0.001368	0	0
FAM13C	220965	broad.mit.edu	37	10	61014154	61014154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61014154C>T	ENST00000373867.3	-	12	1502	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	FAM13C_ENST00000277705.6_Missense_Mutation_p.R450K|FAM13C_ENST00000442566.3_Missense_Mutation_p.R450K|FAM13C_ENST00000373868.2_Missense_Mutation_p.R429K|FAM13C_ENST00000435852.2_Missense_Mutation_p.R429K|FAM13C_ENST00000419214.2_Missense_Mutation_p.R331K|FAM13C_ENST00000422313.2_Missense_Mutation_p.R429K|FAM13C_ENST00000468840.2_Missense_Mutation_p.R346K	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	429										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGATAATTCTGTATCGGTC	0.353000													28	95					0	0	0.002445	0	0
IL37	27178	broad.mit.edu	37	2	113674773	113674773	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:113674773C>T	ENST00000263326.3	+	3	255	c.213C>T	c.(211-213)gtC>gtT	p.V71V	IL37_ENST00000353225.3_Intron|IL37_ENST00000311328.2_Silent_p.V45V|IL37_ENST00000352179.3_Silent_p.V50V|IL37_ENST00000349806.3_Intron	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	71					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGTACTGGTCCTGGACTCTG	0.448000													22	48					0	0	0.001882	0	0
DOCK2	1794	broad.mit.edu	37	5	169504715	169504715	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:169504715C>T	ENST00000256935.8	+	48	4948	c.4866_splice	c.e48-1	p.P1623_splice	DOCK2_ENST00000540750.1_Splice_Site_p.P684_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.P1115_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1623					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACCACAGCCTGACTTTGAC	0.572000													16	63					0	0	0.004990	0	0
SPTB	6710	broad.mit.edu	37	14	65260425	65260425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:65260425C>T	ENST00000389722.3	-	13	2009	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SPTB_ENST00000542895.1_Nonsense_Mutation_p.W652*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.W652*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W652*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.W652*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	652					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCCTTGATCCAGCTCTCAG	0.537000													10	45					0	0	0.006214	0	0
RGP1	9827	broad.mit.edu	37	9	35749253	35749253	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:35749253G>A	ENST00000456972.2	+	1	51	c.51G>A	c.(49-51)agG>agA	p.R17R	GBA2_ENST00000545786.1_Intron			Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	0										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCCGGAAGGGACTCCGCGG	0.771000													3	10					0	0	0.004672	0	0
FAT2	2196	broad.mit.edu	37	5	150887168	150887168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:150887168C>T	ENST00000261800.5	-	22	12076	c.12064G>A	c.(12064-12066)Gaa>Aaa	p.E4022K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4022	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCCATTTCACACCTGCGG	0.552000													7	16					0	0	0.003080	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:10920116C>T	ENST00000298232.7	-	18	1451	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TPTE_ENST00000342420.5_Missense_Mutation_p.E342K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E380K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATTTTTCGCTGTGGGTT	0.393000													8	63					0	0	0.004482	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:19748188G>A	ENST00000400113.3	-	5	1272	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647000													18	86					0	0	0.006122	0	0
COL12A1	1303	broad.mit.edu	37	6	75890817	75890817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:75890817C>T	ENST00000322507.8	-	11	2311	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	COL12A1_ENST00000416123.2_Missense_Mutation_p.E668K|COL12A1_ENST00000483888.2_Missense_Mutation_p.E668K|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	668	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGCCGCTTCCTTGTAGGTG	0.458000													13	49					0	0	0.001368	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449734	61449734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:61449734G>A	ENST00000398019.2	+	2	453	c.128G>A	c.(127-129)cGc>cAc	p.R43H	SERPINB7_ENST00000546027.1_Missense_Mutation_p.R43H|SERPINB7_ENST00000336429.2_Missense_Mutation_p.R43H|SERPINB7_ENST00000540675.1_Missense_Mutation_p.R43H	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCCCTGGTCCGCTTGGGCGCT	0.468000													15	65					0	0	0.008871	0	0
OR6C3	254786	broad.mit.edu	37	12	55725574	55725574	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55725574C>T	ENST00000379667.1	+	1	90	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTTTATTTATCACGTATATAT	0.418000													17	94					0	0	0.004990	0	0
OTOA	146183	broad.mit.edu	37	16	21709189	21709189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:21709189C>T	ENST00000388958.3	+	9	834	c.833C>T	c.(832-834)cCt>cTt	p.P278L	OTOA_ENST00000286149.4_Missense_Mutation_p.P278L|OTOA_ENST00000388956.4_Missense_Mutation_p.P199L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	278					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAAATTAGTCCTATAGAAGTA	0.383000													12	55					0	0	0.001855	0	0
ZNF454	285676	broad.mit.edu	37	5	178392621	178392621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:178392621C>T	ENST00000320129.3	+	5	1519	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H406Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCGGAAAATTCACACTGGAGA	0.418000													8	40					0	0	0.006214	0	0
COA4	51287	broad.mit.edu	37	11	73584408	73584408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:73584408G>A	ENST00000541455.1	-	2	436	c.43C>T	c.(43-45)Cct>Tct	p.P15S	COA4_ENST00000355693.4_Missense_Mutation_p.P6S|COA4_ENST00000537289.1_Missense_Mutation_p.P6S|COA4_ENST00000545127.1_Missense_Mutation_p.P6S					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		TGGCCTTGAGGGACTGAGGTT	0.502000													9	77					0	0	0.006214	0	0
DCDC1	341019	broad.mit.edu	37	11	30946906	30946906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:30946906C>T	ENST00000597505.1	-	21	2946	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E62K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	218					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCCCCTTTTCATTGTACAAT	0.363000													41	131					0	0	0.003214	0	0
OR51M1	390059	broad.mit.edu	37	11	5411114	5411114	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5411114C>T	ENST00000328611.3	+	1	508	c.486C>T	c.(484-486)ttC>ttT	p.F162F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	162						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCATCTTCCGGGGACCTG	0.542000													55	231					0	0	0.003610	0	0
SEMA7A	8482	broad.mit.edu	37	15	74708937	74708937	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:74708937G>A	ENST00000261918.4	-	7	1328	c.780C>T	c.(778-780)tcC>tcT	p.S260S	SEMA7A_ENST00000542748.1_Silent_p.S95S|SEMA7A_ENST00000543145.2_Silent_p.S246S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	260	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGGCCACACGGGACACATTGA	0.557000													9	46					0	0	0.004482	0	0
LRRC7	57554	broad.mit.edu	37	1	70225938	70225938	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:70225938C>T	ENST00000310961.5	+	4	484	c.66C>T	c.(64-66)ttC>ttT	p.F22F	LRRC7_ENST00000035383.5_Silent_p.F17F|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.F55F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	17						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCGATGTTTCCGAGGTGAAG	0.468000													9	25					0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168101368	168101368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:168101368G>A	ENST00000409195.1	+	9	3555	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1156K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E934K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	981					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAACAGGAGGAGATCCAAGG	0.398000													11	43					0	0	0.000978	0	0
PRR23B	389151	broad.mit.edu	37	3	138738753	138738753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:138738753G>A	ENST00000329447.5	-	1	1015	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCGTTCCGGGAGCGGCGAG	0.677000													8	38					0	0	0.008291	0	0
MUC2	4583	broad.mit.edu	37	11	1093904	1093904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:1093904C>T	ENST00000441003.2	+	30	5750	c.5723C>T	c.(5722-5724)cCa>cTa	p.P1908L	MUC2_ENST00000333592.6_Missense_Mutation_p.P196L|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1934						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACTGTCTCCACCGCCCAGC	0.647000													5	51					0	0	0.000602	0	0
NUP210	23225	broad.mit.edu	37	3	13363298	13363298	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:13363298C>T	ENST00000254508.5	-	36	5035	c.4953G>A	c.(4951-4953)acG>acA	p.T1651T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1651					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T1651T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTGCTTGTCCGTCAGCCTGT	0.572000													43	212					0	0	0.003214	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													19	80					0	0	0.008871	0	0
ITGB4	3691	broad.mit.edu	37	17	73732427	73732427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:73732427C>T	ENST00000200181.3	+	15	2007	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	ITGB4_ENST00000450894.3_Missense_Mutation_p.S607L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.S607L|ITGB4_ENST00000339591.3_Missense_Mutation_p.S607L|ITGB4_ENST00000579662.1_Missense_Mutation_p.S607L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	607	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCAGCAGTCGCTCTACACG	0.637000													13	65					0	0	0.004007	0	0
ANK1	286	broad.mit.edu	37	8	41547801	41547801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:41547801C>T	ENST00000396942.1	-	33	4131	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	ANK1_ENST00000352337.4_Missense_Mutation_p.E1350K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1350K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1350K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1350K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1391K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1350K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1350					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGTGTCCTCGTACTTCATC	0.607000													14	54					0	0	0.001855	0	0
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532000													7	25					0	0	0.001984	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928246	31928246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31928246C>T	ENST00000375394.2	+	5	505	c.392C>T	c.(391-393)tCc>tTc	p.S131F	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	131						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTACAACCTCCTTGTCTCTT	0.562000													46	374					0	0	0.003610	0	0
OAS3	4940	broad.mit.edu	37	12	113405251	113405251	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:113405251C>T	ENST00000228928.7	+	13	2897	c.2718C>T	c.(2716-2718)agC>agT	p.S906S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	906	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGGCCCAGCTCTCAAGTCT	0.572000													3	10					0	0	0.004672	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314718	107314718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:107314718G>A	ENST00000265715.3	+	5	749	c.525G>A	c.(523-525)atG>atA	p.M175I		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	175					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.M175I(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACTACTATGATAGACACTG	0.433000									Pendred syndrome				16	76					0	0	0.006122	0	0
COL11A2	1302	broad.mit.edu	37	6	33156203	33156203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:33156203G>A	ENST00000341947.2	-	4	769	c.542C>T	c.(541-543)cCa>cTa	p.P181L	COL11A2_ENST00000357486.1_Missense_Mutation_p.P181L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P181L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P181L|COL11A2_ENST00000395194.1_Missense_Mutation_p.P181L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P181L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P181L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P181L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P181L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	181	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCAATACTGGACGAGCACT	0.547000													21	65					0	0	0.001523	0	0
RNPEP	6051	broad.mit.edu	37	1	201966479	201966479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:201966479C>T	ENST00000295640.4	+	5	930	c.887C>T	c.(886-888)cCa>cTa	p.P296L	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.P257L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	296					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CCGTCCTTTCCATTTGGAGGA	0.587000													15	93					0	0	0.006122	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872802	51872802	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51872802C>T	ENST00000371497.5	+	2	3692	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F	TSHZ2_ENST00000329613.6_Silent_p.F932F|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.F932F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	935					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCTCCCAGTTCAGAACCCCTT	0.488000													13	65					0	0	0.001855	0	0
MAP1A	4130	broad.mit.edu	37	15	43817097	43817097	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:43817097C>T	ENST00000382031.1	+	5	4171	c.4140C>T	c.(4138-4140)gaC>gaT	p.D1380D	MAP1A_ENST00000399453.1_Silent_p.D1142D|MAP1A_ENST00000300231.5_Silent_p.D1142D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1142						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATATCCTGACCGAAGCCTCT	0.572000													7	57					0	0	0.001984	0	0
IL3RA	3563	broad.mit.edu	37	X	1467418	1467418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:1467418G>A	ENST00000331035.4	+	4	627	c.278G>A	c.(277-279)tGg>tAg	p.W93*	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	93						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTCCACGTGGATCCTCTTC	0.483000													55	212					0	0	0.003610	0	0
HECTD4	283450	broad.mit.edu	37	12	112607316	112607316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:112607316G>A	ENST00000550722.1	-	70	12156	c.11761C>T	c.(11761-11763)Cat>Tat	p.H3921Y	HECTD4_ENST00000377560.5_Missense_Mutation_p.H3895Y|HECTD4_ENST00000430131.2_Missense_Mutation_p.H3645Y	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGGTGCCATGGACCTCCTCG	0.617000													4	15					0	0	0.000248	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986565	51986565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51986565C>T	ENST00000451626.1	+	5	1151	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	CEACAM18_ENST00000396477.4_Intron			A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	384						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGCAGCTCCCCTCCAGGCTCA	0.602000													5	27					0	0	0.000602	0	0
ZNF558	148156	broad.mit.edu	37	19	8922646	8922646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:8922646G>A	ENST00000601372.1	-	10	1231	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	ZNF558_ENST00000301475.1_Missense_Mutation_p.H174Y|ZNF558_ENST00000444186.2_Missense_Mutation_p.H103Y			Q96NG5	ZN558_HUMAN	zinc finger protein 558	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCTCCAGTATGAATTCTCTTG	0.393000													4	36					0	0	0.000248	0	0
OBSCN	84033	broad.mit.edu	37	1	228492989	228492989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:228492989G>A	ENST00000570156.2	+	54	14506	c.14432G>A	c.(14431-14433)aGa>aAa	p.R4811K	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1488K|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3854					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGGGACCAGATGTGAGCTG	0.562000													21	121					0	0	0.002299	0	0
LCTL	197021	broad.mit.edu	37	15	66855937	66855937	+	Missense_Mutation	SNP	C	C	T	rs113055189		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:66855937C>T	ENST00000341509.5	-	4	528	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	133					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.E133K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTAGAATTCGATTCCCTTC	0.527000													8	38					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13769610	13769610	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:13769610C>T	ENST00000265104.4	-	57	9824	c.9720_splice	c.e57+1	p.M3240_splice	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3240	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCCACCCACCATGTCGGCTT	0.418000									Kartagener syndrome				24	82					0	0	0.004656	0	0
MCM3AP	8888	broad.mit.edu	37	21	47666294	47666294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:47666294G>A	ENST00000397708.1	-	23	4828	c.4574C>T	c.(4573-4575)tCa>tTa	p.S1525L	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1525L|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1525					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGCTTAGCTGAAACCAAGTC	0.408000													7	28					0	0	0.008291	0	0
DGKE	8526	broad.mit.edu	37	17	54939586	54939586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:54939586C>T	ENST00000284061.3	+	11	1678	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	500					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R500*(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAATCCTTTTCGAATAGGACA	0.393000													9	18					0	0	0.000978	0	0
TENM1	10178	broad.mit.edu	37	X	123657419	123657419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:123657419G>A	ENST00000422452.2	-	17	2891	c.2828C>T	c.(2827-2829)cCt>cTt	p.P943L	TENM1_ENST00000371130.3_Missense_Mutation_p.P943L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGGCAGGAAAGGGGATCGGTC	0.453000													20	15					0	0	0.007413	0	0
ADARB2	105	broad.mit.edu	37	10	1313167	1313167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:1313167C>T	ENST00000381312.1	-	4	1500	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	392					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CATGACGATTCCTGCCAGCGC	0.532000													5	21					0	0	0.003080	0	0
CRB1	23418	broad.mit.edu	37	1	197390734	197390734	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:197390734C>T	ENST00000367400.3	+	6	1911	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CRB1_ENST00000544212.1_Silent_p.I73I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I523I|CRB1_ENST00000367399.2_Silent_p.I480I|CRB1_ENST00000538660.1_Silent_p.I592I|CRB1_ENST00000543483.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	592	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I592M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAAATGCATCGCGAAAGCTC	0.468000													18	62					0	0	0.007413	0	0
GABBR2	9568	broad.mit.edu	37	9	101258747	101258747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:101258747G>A	ENST00000259455.2	-	4	1139	c.680C>T	c.(679-681)tCa>tTa	p.S227L	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	227					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTCGGTGTCTGAAATCTCAAT	0.537000													9	62					0	0	0.006214	0	0
AKNA	80709	broad.mit.edu	37	9	117106021	117106021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:117106021G>A	ENST00000307564.4	-	19	3885	c.3724C>T	c.(3724-3726)Ccc>Tcc	p.P1242S	AKNA_ENST00000374079.4_Missense_Mutation_p.P187S|AKNA_ENST00000223791.3_Missense_Mutation_p.P702S|AKNA_ENST00000374075.5_Missense_Mutation_p.P1161S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1242S|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGCAGTGGGGACAGGAGACT	0.582000													15	48					0	0	0.004990	0	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:135438925C>T	ENST00000443774.1	-	4	567	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	FRG2B_ENST00000425520.1_Missense_Mutation_p.R172Q			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000													29	153					0	0	0.002445	0	0
PHTF2	57157	broad.mit.edu	37	7	77549657	77549657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:77549657C>T	ENST00000416283.2	+	8	862	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000450574.1_Missense_Mutation_p.L246F|PHTF2_ENST00000415251.2_Missense_Mutation_p.L242F|PHTF2_ENST00000248550.7_Missense_Mutation_p.L280F|PHTF2_ENST00000307305.8_Missense_Mutation_p.L242F|PHTF2_ENST00000424760.1_Missense_Mutation_p.L242F|PHTF2_ENST00000275575.7_Missense_Mutation_p.L242F|PHTF2_ENST00000422959.2_Missense_Mutation_p.L246F	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTATGTATCCCTTGATGGGAA	0.373000													5	30					0	0	0.001984	0	0
ANO8	57719	broad.mit.edu	37	19	17444280	17444280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:17444280G>A	ENST00000159087.4	-	3	459	c.301C>T	c.(301-303)Cac>Tac	p.H101Y		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	101						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTGTGGCGGTGGTGGCGGACT	0.657000													17	112					0	0	0.008871	0	0
TLL1	7092	broad.mit.edu	37	4	166913964	166913964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:166913964G>A	ENST00000061240.2	+	3	936	c.289G>A	c.(289-291)Gga>Aga	p.G97R	TLL1_ENST00000507499.1_Missense_Mutation_p.G97R|TLL1_ENST00000513213.1_Missense_Mutation_p.G97R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	97					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGTGGACTTGGAGACCATGC	0.363000													14	56					0	0	0.002450	0	0
C14orf39	317761	broad.mit.edu	37	14	60921816	60921816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:60921816G>A	ENST00000321731.3	-	16	1565	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	469										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAGTCCAGGGGATTCCTTTTC	0.294000													10	58					0	0	0.008291	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3805956	3805956	+	Silent	SNP	G	G	A	rs139345952	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:3805956G>A	ENST00000440314.2	-	4	683	c.210C>T	c.(208-210)atC>atT	p.I70I	EFCAB4B_ENST00000444507.1_Silent_p.I70I|EFCAB4B_ENST00000252322.1_Silent_p.I70I	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	70	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTCCTGGCGATGAAGCCCT	0.567000													6	47					0	0	0.003080	0	0
PDE6A	5145	broad.mit.edu	37	5	149242808	149242808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:149242808C>T	ENST00000255266.5	-	21	2499	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	794					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGGGTGATCTCCTCGTGGAAA	0.557000													21	60					0	0	0.008871	0	0
BTN1A1	696	broad.mit.edu	37	6	26506930	26506930	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:26506930G>A	ENST00000244513.6	+	4	795	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	243						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCCAAGGCTGACTCCCTGGA	0.463000													34	221					0	0	0.005524	0	0
REPS1	85021	broad.mit.edu	37	6	139262517	139262517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:139262517G>A	ENST00000450536.2	-	8	1664	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	REPS1_ENST00000367663.4_Missense_Mutation_p.P364S|REPS1_ENST00000409812.2_Missense_Mutation_p.P364S|REPS1_ENST00000258062.5_Missense_Mutation_p.P364S|REPS1_ENST00000415951.2_Missense_Mutation_p.P364S			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	364	EH 2.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AAGCTTTCAGGAAGTTTTTCT	0.403000													12	95					0	0	0.000978	0	0
IL17RE	132014	broad.mit.edu	37	3	9948439	9948439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:9948439C>T	ENST00000454190.2	+	5	501	c.416C>T	c.(415-417)tCc>tTc	p.S139F	IL17RE_ENST00000295980.3_Missense_Mutation_p.S139F|IL17RE_ENST00000383814.3_Missense_Mutation_p.S139F|IL17RE_ENST00000421412.1_Missense_Mutation_p.S172F	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	139						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CATCACATTTCCATCCCCTCC	0.532000													31	104					0	0	0.003755	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660118	77660118	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77660118C>T	ENST00000296043.6	+	5	1745	c.792C>T	c.(790-792)tcC>tcT	p.S264S	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	264					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTCTTTCTCCACCAGTTCTA	0.557000													8	31					0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000													24	73					0	0	0.002780	0	0
WNK2	65268	broad.mit.edu	37	9	96030990	96030990	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:96030990C>A	ENST00000297954.4	+	18	3995	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P944Q|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P944Q|WNK2_ENST00000395477.2_Missense_Mutation_p.P1332Q			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1332					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCTTCGCCCCCACTTCCTCTA	0.617000													5	15					0.00198382	0.00224869	0.001984	1	0
SORCS3	22986	broad.mit.edu	37	10	106960892	106960892	+	Silent	SNP	C	C	T	rs150188088		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:106960892C>T	ENST00000369701.3	+	16	2369	c.2142C>T	c.(2140-2142)gtC>gtT	p.V714V	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	714						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCTTGTGTCATGGGAGAAA	0.463000													6	28					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179467033	179467033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179467033C>T	ENST00000589042.1	-	283	55320	c.55096G>A	c.(55096-55098)Gag>Aag	p.E18366K	TTN_ENST00000342175.6_Missense_Mutation_p.E9493K|TTN_ENST00000359218.5_Missense_Mutation_p.E9426K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16725K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9301K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15798K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16725	Fibronectin type-III 33.						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)			GCAGGGATCTCCCCAGTTGTA	0.373000													11	55					0	0	0.000978	0	0
ARL4D	379	broad.mit.edu	37	17	41477377	41477377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:41477377C>T	ENST00000320033.4	+	2	484	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	93					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TTATACCCGCCGGACAGACGG	0.652000													13	76					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113420569	113420569	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:113420569C>T	ENST00000297405.5	-	34	5827	c.5583G>A	c.(5581-5583)aaG>aaA	p.K1861K	CSMD3_ENST00000343508.3_Silent_p.K1821K|CSMD3_ENST00000455883.2_Silent_p.K1757K|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1861	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGAAATCCCTTAGCTGTTA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	85					0	0	0.004990	0	0
ALMS1	7840	broad.mit.edu	37	2	73677820	73677820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73677820G>A	ENST00000264448.6	+	8	4274	c.4163G>A	c.(4162-4164)aGt>aAt	p.S1388N	ALMS1_ENST00000377715.1_Missense_Mutation_p.S1388N|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1346N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1388	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAAGCCGAGTATTTTCTAC	0.478000													22	80					0	0	0.002299	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836148	12836148	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12836148G>A	ENST00000357726.4	+	2	777	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	250										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTAGACAGGAAGGAGCAGT	0.502000													22	76					0	0	0.001882	0	0
VPS13B	157680	broad.mit.edu	37	8	100831746	100831746	+	Nonsense_Mutation	SNP	G	G	T	rs143787982		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:100831746G>T	ENST00000358544.2	+	48	8914	c.8803G>T	c.(8803-8805)Gaa>Taa	p.E2935*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.E2910*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2935					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCCTTGACGAATTCTATGG	0.398000													12	45					1.61879e-10	1.86237e-10	0.001368	1	0
DYSF	8291	broad.mit.edu	37	2	71840531	71840531	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:71840531C>T	ENST00000258104.3	+	40	4678	c.4401C>T	c.(4399-4401)atC>atT	p.I1467I	DYSF_ENST00000410041.1_Silent_p.I1485I|DYSF_ENST00000409762.1_Silent_p.I1484I|DYSF_ENST00000409744.1_Silent_p.I1454I|DYSF_ENST00000409582.3_Silent_p.I1484I|DYSF_ENST00000429174.2_Silent_p.I1467I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.I1499I|DYSF_ENST00000394120.2_Silent_p.I1468I|DYSF_ENST00000409366.1_Silent_p.I1468I|DYSF_ENST00000413539.2_Silent_p.I1498I|DYSF_ENST00000410020.3_Silent_p.I1485I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1467						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCCCTCATCCCCATCCAGG	0.582000													6	20					0	0	0.003080	0	0
CDH23	64072	broad.mit.edu	37	10	73461880	73461880	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73461880C>T	ENST00000224721.6	+	22	2519	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	CDH23_ENST00000299366.7_Silent_p.I878I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	833	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGGGCAAGATCCGCACCACCC	0.602000													22	102					0	0	0.002780	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702398	84702398	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:84702398C>T	ENST00000284136.6	-	4	419		c.e4-1		SEMA3D_ENST00000444867.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACATTCTGTCTGTTGGGCAC	0.333000													8	29					0	0	0.004482	0	0
PKD1L2	114780	broad.mit.edu	37	16	81157334	81157334	+	RNA	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:81157334A>C	ENST00000525539.1	-	0	6404				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACTCCACAAACACAGCTCTG	0.567000													13	86					0	0	0.001368	0	0
ANK3	288	broad.mit.edu	37	10	61959955	61959955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61959955G>A	ENST00000280772.1	-	13	1614	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C	ANK3_ENST00000503366.1_Missense_Mutation_p.R458C|ANK3_ENST00000373827.2_Missense_Mutation_p.R469C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	475					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R475C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCCGGAGCGAGCTGCCATG	0.453000													5	34					0	0	0.001168	0	0
LIPH	200879	broad.mit.edu	37	3	185232237	185232237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:185232237C>T	ENST00000296252.4	-	8	1196	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	LIPH_ENST00000424591.2_Missense_Mutation_p.R318K	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	352					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.R352T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGCTTTGTCTCTCAATTTGAT	0.363000													99	398					0	0	0.003610	0	0
KRT34	3885	broad.mit.edu	37	17	39535215	39535215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39535215C>T	ENST00000394001.1	-	6	1246	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	406	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CACTTGCAGTCCTCACTCTCC	0.537000													9	70					0	0	0.004482	0	0
CCDC37	348807	broad.mit.edu	37	3	126132978	126132978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:126132978G>A	ENST00000393425.1	+	4	280	c.181G>A	c.(181-183)Gat>Aat	p.D61N	CCDC37_ENST00000510833.1_Missense_Mutation_p.D61N|CCDC37_ENST00000352312.1_Missense_Mutation_p.D61N|CCDC37_ENST00000505024.1_Missense_Mutation_p.D61N			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	61										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGGGGATGTGGATTTCTTCTT	0.567000													60	221					0	0	0.003610	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:54040660C>T	ENST00000373980.4	+	13	1932	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.L478L|PRKG1_ENST00000373975.2_Silent_p.L208L|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.L490L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000													10	57					0	0	0.006214	0	0
KRT16	3868	broad.mit.edu	37	17	39767380	39767380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39767380G>A	ENST00000301653.4	-	4	938	c.874C>T	c.(874-876)Cag>Tag	p.Q292*		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	292	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGCTCGTACTGGTCACGCATC	0.607000													36	108					0	0	0.008740	0	0
NUGGC	389643	broad.mit.edu	37	8	27927076	27927076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:27927076C>T	ENST00000413272.2	-	4	384	c.242G>A	c.(241-243)gGa>gAa	p.G81E	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81E	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		ATACTTGACTCCATTAGGGAT	0.418000													19	79					0	0	0.008871	0	0
LYG2	254773	broad.mit.edu	37	2	99860574	99860574	+	Silent	SNP	G	G	A	rs140282833		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:99860574G>A	ENST00000409679.1	-	5	552	c.408C>T	c.(406-408)gtC>gtT	p.V136V	LYG2_ENST00000409238.1_Silent_p.V136V|LYG2_ENST00000333017.2_Silent_p.V136V			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	136					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCCAGGCACCGACAGGGTGGT	0.428000													10	36					0	0	0.006214	0	0
EXOSC5	56915	broad.mit.edu	37	19	41893466	41893466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:41893466G>A	ENST00000221233.4	-	5	718	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	EXOSC5_ENST00000596905.1_Missense_Mutation_p.R152W|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	190					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCAGCTTCCGTTCCACGCTG	0.582000													6	13					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94041415	94041415	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:94041415G>A	ENST00000553484.1	+	17	2236	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	UNC79_ENST00000555664.1_Silent_p.E694E|UNC79_ENST00000256339.4_Silent_p.E517E|UNC79_ENST00000393151.2_Silent_p.E694E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	694						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTATCGGAGTTAGATATCA	0.323000													7	21					0	0	0.003080	0	0
TLE2	7089	broad.mit.edu	37	19	3013779	3013779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3013779G>A	ENST00000262953.6	-	11	1023	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TLE2_ENST00000426948.2_Missense_Mutation_p.P268L|TLE2_ENST00000455444.2_Missense_Mutation_p.P132L|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.P255L|TLE2_ENST00000591529.1_Missense_Mutation_p.P268L|TLE2_ENST00000443826.3_Missense_Mutation_p.P132L|TLE2_ENST00000587217.1_5'UTR	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	254	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCCGCAGGGGGTGGTAGC	0.607000													16	104					0	0	0.004007	0	0
ZNF808	388558	broad.mit.edu	37	19	53057071	53057071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:53057071C>T	ENST00000359798.4	+	5	1082	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TACAAGTCATCCCTTACATGC	0.398000													16	76					0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57326320	57326320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:57326320C>T	ENST00000326441.9	-	10	3853	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	PEG3_ENST00000423103.2_Missense_Mutation_p.E1164K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1040K|PEG3_ENST00000593695.1_Missense_Mutation_p.E1038K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1164					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTGGACATTCATACAGCTGC	0.448000													24	99					0	0	0.002780	0	0
MGAT5	4249	broad.mit.edu	37	2	135206361	135206361	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:135206361C>T	ENST00000409645.1	+	17	2421	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	MGAT5_ENST00000281923.2_Silent_p.V723V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	723					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ACCAGAGGGTCTGCCCCTGCC	0.597000													5	57					0	0	0.000602	0	0
CDK18	5129	broad.mit.edu	37	1	205494284	205494284	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:205494284G>A	ENST00000360066.2	+	5	718	c.417G>A	c.(415-417)ggG>ggA	p.G139G	CDK18_ENST00000506784.1_Silent_p.G169G|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.G139G	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	137							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTGGCTTTGGGAAACTGGAAA	0.547000													7	30					0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884687	228884687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:228884687C>T	ENST00000392056.3	-	7	929	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A295T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	295						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGCAAGGCTGTGTTCTTT	0.418000													44	129					0	0	0.003214	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369603	20369603	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:20369603G>A	ENST00000593655.1	-	0	199																											TTGCTGGGAGGGATATAACTA	0.423000													9	28					0	0	0.006214	0	0
FAM83E	54854	broad.mit.edu	37	19	49104458	49104458	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:49104458A>T	ENST00000263266.3	-	5	1534	c.1345T>A	c.(1345-1347)Ttc>Atc	p.F449I		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCCCACCGAACCGCCTTCGG	0.701000													6	24					0	0	0.001984	0	0
RAI1	10743	broad.mit.edu	37	17	17698654	17698654	+	Missense_Mutation	SNP	C	C	T	rs148947371		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:17698654C>T	ENST00000353383.1	+	3	2861	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	RAI1_ENST00000261641.6_Missense_Mutation_p.P798S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	798						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAGGAGGACCCCCCTGGGGA	0.667000													8	23					0	0	0.003080	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029654	193029654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:193029654C>T	ENST00000342358.4	-	20	2513	c.2396G>A	c.(2395-2397)gGg>gAg	p.G799E	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	799					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTATGATTTCCCACTCATTGC	0.408000													10	49					0	0	0.008291	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502479	90502479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:90502479G>A	ENST00000325643.5	+	4	3143	c.3077G>A	c.(3076-3078)tGg>tAg	p.W1026*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGGTCCCAGTGGGCAAGGGCT	0.592000													13	38					0	0	0.001368	0	0
ATP4A	495	broad.mit.edu	37	19	36044004	36044004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:36044004C>T	ENST00000262623.3	-	18	2714	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	896					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCCCGCAGCCCCACGCACAGC	0.642000													26	134					0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	3265455	3265455	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3265455G>A	ENST00000602557.1	-	15	2595	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	CSMD1_ENST00000539096.1_Silent_p.S679S|CSMD1_ENST00000400186.3_Silent_p.S680S|CSMD1_ENST00000602723.1_Silent_p.S680S|CSMD1_ENST00000537824.1_Silent_p.S679S|CSMD1_ENST00000520002.1_Silent_p.S680S|CSMD1_ENST00000542608.1_Silent_p.S679S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	680	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCAGTAGTGGAATGGTCAG	0.458000													5	20					0	0	0.000602	0	0
CFHR5	81494	broad.mit.edu	37	1	196965275	196965275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:196965275G>A	ENST00000367414.5	+	6	1042	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CFHR5_ENST00000256785.4_Missense_Mutation_p.G305E	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	305	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCAATGATTGGAAATAACATG	0.363000													11	60					0	0	0.001368	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363708	55363708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55363708C>T	ENST00000326321.3	+	3	359	c.326C>T	c.(325-327)cCc>cTc	p.P109L	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P109L|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	109					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGGCACCCAGCAACCCC	0.607000													24	100					0	0	0.004656	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638206	234638206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:234638206C>T	ENST00000482026.1	+	1	453	c.434C>T	c.(433-435)tCc>tTc	p.S145F	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATGCTACTTCCTTTGATGTG	0.443000													23	143					0	0	0.002299	0	0
FRAS1	80144	broad.mit.edu	37	4	79440574	79440574	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:79440574C>T	ENST00000264895.6	+	67	10919	c.10479C>T	c.(10477-10479)tcC>tcT	p.S3493S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3488					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGGGCCTCCTTGGAGCACC	0.532000													43	183					0	0	0.008740	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131786	45131786	+	RNA	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:45131786C>G	ENST00000575173.1	-	0	418																											GGGTAAATGACGGGACCCTCA	0.463000													15	54					0	0	0.004990	0	0
TTLL13P	440307	broad.mit.edu	37	15	90800928	90800928	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:90800928C>T	ENST00000561573.1	+	6	885	c.621C>T	c.(619-621)gtC>gtT	p.V207V	TTLL13_ENST00000438251.1_Silent_p.V303V|TTLL13_ENST00000339615.5_Silent_p.V303V																							AGAATTTTGTCCGGGATGGCG	0.522000													19	70					0	0	0.003954	0	0
NRP1	8829	broad.mit.edu	37	10	33545362	33545362	+	Silent	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:33545362T>G	ENST00000265371.4	-	6	1221	c.696A>C	c.(694-696)acA>acC	p.T232T	NRP1_ENST00000395995.1_Silent_p.T232T|NRP1_ENST00000374816.3_Silent_p.T232T|NRP1_ENST00000374821.5_Silent_p.T232T|NRP1_ENST00000374822.4_Silent_p.T232T|NRP1_ENST00000374823.5_Silent_p.T232T|NRP1_ENST00000374867.2_Silent_p.T232T			O14786	NRP1_HUMAN	neuropilin 1	232	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCGACCTGGTGTTTTCTGTC	0.473000													5	38					0	0	0.001168	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714678	65714678	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:65714678C>T	ENST00000532620.1	+	0	613							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCCAAGCTCCCCAACCCCTGG	0.652000													3	13					0	0	0.004672	0	0
PNMA2	10687	broad.mit.edu	37	8	26365392	26365392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:26365392G>A	ENST00000522362.2	-	3	1774	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	294					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tgctccaggcggacctggtcc	0.622000													6	34					0	0	0.001168	0	0
HOMER2	9455	broad.mit.edu	37	15	83561540	83561540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:83561540G>A	ENST00000304231.8	-	2	251	c.59C>T	c.(58-60)aCc>aTc	p.T20I	HOMER2_ENST00000450735.2_Missense_Mutation_p.T20I|HOMER2_ENST00000399166.2_Missense_Mutation_p.T20I|HOMER2_ENST00000426485.1_Missense_Mutation_p.T20I	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	20	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GTTCTTCTTGGTGTTGGGGTC	0.517000													13	91					0	0	0.001855	0	0
CEP128	145508	broad.mit.edu	37	14	81382795	81382795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:81382795G>A	ENST00000555265.1	-	3	472	c.97C>T	c.(97-99)Cct>Tct	p.P33S	CEP128_ENST00000327841.2_5'UTR|CEP128_ENST00000216517.6_Missense_Mutation_p.P33S|CEP128_ENST00000281129.3_Missense_Mutation_p.P33S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	33						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTACTGTAGGAAGACTTCGA	0.428000													12	35					0	0	0.001368	0	0
FSHR	2492	broad.mit.edu	37	2	49217773	49217773	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:49217773T>C	ENST00000406846.2	-	5	497	c.378A>G	c.(376-378)ttA>ttG	p.L126L	FSHR_ENST00000304421.4_Silent_p.L126L|FSHR_ENST00000346173.3_Silent_p.L126L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	126					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTTGGATATTAACCTAGAGA	0.333000									Gonadal Dysgenesis, 46 XX				11	53					0	0	0.000978	0	0
NLRP7	199713	broad.mit.edu	37	19	55450616	55450616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55450616C>T	ENST00000588756.1	-	6	2057	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	NLRP7_ENST00000328092.5_Missense_Mutation_p.G524D|NLRP7_ENST00000592784.1_Missense_Mutation_p.G524D|NLRP7_ENST00000590030.1_Missense_Mutation_p.G524D|NLRP7_ENST00000340844.2_Missense_Mutation_p.G524D|NLRP7_ENST00000448121.2_Missense_Mutation_p.G524D|NLRP7_ENST00000446217.1_Missense_Mutation_p.G552D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	524							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTAGCGAGGCCGAATAAGAA	0.532000													13	60					0	0	0.001855	0	0
PCDH15	65217	broad.mit.edu	37	10	55626446	55626446	+	Missense_Mutation	SNP	T	T	C	rs61731381	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:55626446T>C	ENST00000373965.2	-	28	4088	c.3694A>G	c.(3694-3696)Act>Gct	p.T1232A	PCDH15_ENST00000395433.1_Missense_Mutation_p.T1203A|PCDH15_ENST00000409834.1_Missense_Mutation_p.T836A|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1225A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1225A|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1225A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1154A|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1188A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1225A|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1230A|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1232A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1225	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGTCGTCAGTTGCAATAACT	0.413000										HNSCC(58;0.16)			10	33					0	0	0.006214	0	0
SGCZ	137868	broad.mit.edu	37	8	14181710	14181710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:14181710C>T	ENST00000382080.1	-	3	953	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	67					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G80F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTTCCCATACCATCCTACAAG	0.363000													9	36					0	0	0.006214	0	0
TWF2	11344	broad.mit.edu	37	3	52265180	52265180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:52265180G>A	ENST00000305533.5	-	5	689	c.446C>T	c.(445-447)tCg>tTg	p.S149L	TWF2_ENST00000499914.2_Missense_Mutation_p.S149L|TLR9_ENST00000494383.1_Silent_p.L9L|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTCTCAGCCGAGGTCAGCGG	0.617000													30	136					0	0	0.002836	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389474	140389474	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140389474G>A	ENST00000532602.1	+	4	3838	c.2805G>A	c.(2803-2805)caG>caA	p.Q935Q	PCDHA10_ENST00000307360.5_Silent_p.Q933Q|PCDHA2_ENST00000526136.1_Silent_p.Q933Q|PCDHA8_ENST00000531613.1_Silent_p.Q935Q|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Silent_p.Q922Q|PCDHA11_ENST00000398640.2_Silent_p.Q934Q|PCDHA3_ENST00000522353.2_Silent_p.Q935Q|PCDHA6_ENST00000529310.1_Silent_p.Q935Q|PCDHA1_ENST00000504120.2_Silent_p.Q935Q|PCDHA10_ENST00000506939.2_Silent_p.Q670Q|PCDHA13_ENST00000289272.2_Silent_p.Q935Q|PCDHAC1_ENST00000253807.2_Silent_p.Q948Q|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Silent_p.Q926Q|PCDHA13_ENST00000409494.1_Intron|PCDHAC2_ENST00000289269.5_Silent_p.Q992Q|PCDHA5_ENST00000529859.1_Silent_p.Q921Q|PCDHA1_ENST00000394633.3_Silent_p.Q671Q|PCDHA4_ENST00000530339.1_Silent_p.Q932Q|PCDHA6_ENST00000527624.1_Silent_p.Q671Q	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGACCCAGGAGAAAAAAG	0.413000													16	60					0	0	0.004990	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521666	64521666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:64521666C>T	ENST00000355086.3	+	21	3090	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	SRGAP1_ENST00000357825.3_Missense_Mutation_p.P833S|SRGAP1_ENST00000543397.1_Missense_Mutation_p.P793S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	856	Poly-Pro.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAGCCACCCCCTCCAGTAAG	0.557000													21	88					0	0	0.001523	0	0
GOLM1	51280	broad.mit.edu	37	9	88650316	88650316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:88650316C>T	ENST00000388712.3	-	8	1150	c.982G>A	c.(982-984)Gga>Aga	p.G328R	GOLM1_ENST00000388711.3_Missense_Mutation_p.G328R	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	328						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCCTCCTGTCCGTCGGGGATG	0.637000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	71					0	0	0.001523	0	0
MLXIP	22877	broad.mit.edu	37	12	122622109	122622109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:122622109C>T	ENST00000319080.6	+	12	2258	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	MLXIP_ENST00000538698.1_Missense_Mutation_p.S316F			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCAGGGAAATCCGACCCCAAA	0.567000													18	105					0	0	0.008871	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012148	160012148	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:160012148A>G	ENST00000368089.3	-	2	401	c.175T>C	c.(175-177)Ttc>Ctc	p.F59L		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	59						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCAATGAAGGTTGTCCAC	0.547000													24	115					0	0	0.003954	0	0
ATAD5	79915	broad.mit.edu	37	17	29171041	29171041	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:29171041C>T	ENST00000321990.4	+	5	2730	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	784					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)				TTAACACATCCACTAAAAATG	0.299000													12	67					0	0	0.001368	0	0
WDR33	55339	broad.mit.edu	37	2	128477054	128477054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:128477054G>A	ENST00000322313.4	-	16	2703	c.2545C>T	c.(2545-2547)Ccc>Tcc	p.P849S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	849					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AATTCCTGGGGAGGTCCCAGC	0.647000													10	52					0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:41149459G>A	ENST00000263413.3	-	17	2771	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_ENST00000337836.5_Missense_Mutation_p.S836F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTTGGCAGGAACCAATATG	0.423000													24	117					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	94044256	94044256	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:94044256C>T	ENST00000553484.1	+	18	2434	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	UNC79_ENST00000555664.1_Silent_p.F760F|UNC79_ENST00000256339.4_Silent_p.F583F|UNC79_ENST00000393151.2_Silent_p.F760F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	760						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATAGTCCTTTCCAGAGTCCGT	0.453000													40	150					0	0	0.002522	0	0
C1orf194	127003	broad.mit.edu	37	1	109650610	109650610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109650610C>T	ENST00000369949.4	-	2	274	c.95G>A	c.(94-96)tGg>tAg	p.W32*	C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Nonsense_Mutation_p.W44*	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	44										large_intestine(2)|lung(2)|ovary(2)	6						GAGCCGACTCCAGGGTTCCTG	0.473000													34	141					0	0	0.003755	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604713	62604713	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:62604713G>C	ENST00000281156.4	-	6	915	c.637C>G	c.(637-639)Ccc>Gcc	p.P213A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGTGGTGGGGGAGGAGGAATG	0.547000													5	53					0	0	0.001168	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870470	51870470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51870470G>A	ENST00000371497.5	+	2	1360	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R155Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R155Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	158					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTGACACCCGAAACGGCAGC	0.547000													12	86					0	0	0.000978	0	0
OR6C65	403282	broad.mit.edu	37	12	55794670	55794670	+	Missense_Mutation	SNP	C	C	T	rs146463326		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55794670C>T	ENST00000379665.2	+	1	457	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTCTTATGATCGCTATGTGGC	0.383000													24	89					0	0	0.005443	0	0
INSRR	3645	broad.mit.edu	37	1	156821960	156821960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:156821960C>T	ENST00000368195.3	-	3	1057	c.661G>A	c.(661-663)Gct>Act	p.A221T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	221					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGTGCAAGCCATCCCATGG	0.647000													7	39					0	0	0.003080	0	0
OR5M10	390167	broad.mit.edu	37	11	56345152	56345152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56345152C>T	ENST00000526812.2	-	1	111	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTGTCAGTCCTAAGAGAATG	0.453000													36	89					0	0	0.004289	0	0
CDC25B	994	broad.mit.edu	37	20	3779074	3779074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3779074C>T	ENST00000245960.5	+	3	1041	c.344C>T	c.(343-345)tCc>tTc	p.S115F	CDC25B_ENST00000439880.2_Missense_Mutation_p.S101F|CDC25B_ENST00000344256.6_Missense_Mutation_p.S51F|CDC25B_ENST00000379598.5_Missense_Mutation_p.S51F|CDC25B_ENST00000340833.4_Missense_Mutation_p.S115F|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	115					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TGCATGGATTCCCCCAGCCCT	0.478000													25	122					0	0	0.007291	0	0
DICER1	23405	broad.mit.edu	37	14	95569702	95569702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:95569702G>A	ENST00000526495.1	-	23	4322	c.4031C>T	c.(4030-4032)tCa>tTa	p.S1344L	DICER1_ENST00000343455.3_Missense_Mutation_p.S1344L|DICER1_ENST00000393063.1_Missense_Mutation_p.S1344L|DICER1_ENST00000527414.1_Missense_Mutation_p.S1344L|DICER1_ENST00000541352.1_Missense_Mutation_p.S1344L|DICER1_ENST00000556045.1_Missense_Mutation_p.S242L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1344	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.S1344L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTCATATATGAAAGGCGGCC	0.413000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				9	38					0	0	0.008291	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:30371683C>T	ENST00000340513.4	+	13	2008	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	TPX2_ENST00000300403.6_Missense_Mutation_p.H458Y			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000													7	53					0	0	0.004482	0	0
CNGB3	54714	broad.mit.edu	37	8	87755845	87755845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:87755845G>A	ENST00000320005.5	-	1	58	c.11C>T	c.(10-12)tCg>tTg	p.S4L	RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	4					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTGTCAGCGATTTAAACAT	0.393000													12	49					0	0	0.003163	0	0
CD96	10225	broad.mit.edu	37	3	111319612	111319612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:111319612G>A	ENST00000352690.4	+	7	1178	c.938G>A	c.(937-939)gGa>gAa	p.G313E	CD96_ENST00000283285.5_Missense_Mutation_p.G329E|CD96_ENST00000438817.2_Missense_Mutation_p.G313E	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	329	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGCAAAGATGGATTTTTGGAA	0.373000									Opitz Trigonocephaly syndrome				7	39					0	0	0.004482	0	0
OXGR1	27199	broad.mit.edu	37	13	97639629	97639629	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:97639629T>G	ENST00000298440.1	-	4	628	c.385A>C	c.(385-387)Atc>Ctc	p.I129L	OXGR1_ENST00000543457.1_Missense_Mutation_p.I129L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	129						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TAGCGGAAGATGCTGAAACAG	0.448000													7	20					0	0	0.001984	0	0
MEIS2	4212	broad.mit.edu	37	15	37390313	37390313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:37390313G>A	ENST00000338564.5	-	3	546	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	MEIS2_ENST00000424352.2_Missense_Mutation_p.P34S|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.P34S|MEIS2_ENST00000559561.1_Missense_Mutation_p.P34S|MEIS2_ENST00000559085.1_Missense_Mutation_p.P21S|MEIS2_ENST00000557796.2_Missense_Mutation_p.P21S|MEIS2_ENST00000444725.1_Missense_Mutation_p.P34S|MEIS2_ENST00000382766.2_Missense_Mutation_p.P34S|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.P21S|MEIS2_ENST00000219869.9_5'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	34					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAACCGGGGGGATCGGCCGC	0.677000													9	51					0	0	0.008291	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	39					0	0	0.000248	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288254	36288254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:36288254C>T	ENST00000539424.1	+	2	1765	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	TBC1D3F_ENST00000327454.6_Missense_Mutation_p.L114F|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.L114F|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.L114F			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	114						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GTGGTCAGTCCTCCTGAACAC	0.567000													26	641					0	0	0.002836	0	0
PMS2	5395	broad.mit.edu	37	7	6042238	6042238	+	Missense_Mutation	SNP	G	G	A	rs116373169	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:6042238G>A	ENST00000265849.7	-	5	488	c.383C>T	c.(382-384)tCg>tTg	p.S128L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S128L|PMS2_ENST00000441476.2_Missense_Mutation_p.S22L|PMS2_ENST00000382321.4_Missense_Mutation_p.S128L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	128					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AACCTTCGCCGATGCGTGGCA	0.522000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				21	98					0	0	0.004656	0	0
SAP130	79595	broad.mit.edu	37	2	128703068	128703068	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:128703068A>G	ENST00000357702.5	-	19	3072	c.2941T>C	c.(2941-2943)Tgg>Cgg	p.W981R	SAP130_ENST00000259234.6_Missense_Mutation_p.W954R|SAP130_ENST00000259235.3_Missense_Mutation_p.W946R	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	946	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGACTTTCCAGCCTTGAGCA	0.438000													9	49					0	0	0.006214	0	0
IGF2R	3482	broad.mit.edu	37	6	160525776	160525776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:160525776C>T	ENST00000356956.1	+	48	7284	c.7136C>T	c.(7135-7137)cCa>cTa	p.P2379L	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2379					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTGCCTCCTCCACGGCAGGGA	0.542000													14	43					0	0	0.002450	0	0
FLT1	2321	broad.mit.edu	37	13	28893576	28893576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:28893576C>T	ENST00000282397.4	-	24	3521	c.3270G>A	c.(3268-3270)tgG>tgA	p.W1090*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.W308*|FLT1_ENST00000543394.1_Nonsense_Mutation_p.W113*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1090	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAAGATTTCCCACAGCAATA	0.433000													3	19					0	0	0.000248	0	0
EXOC4	60412	broad.mit.edu	37	7	133059705	133059705	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:133059705C>T	ENST00000253861.4	+	7	1160	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	EXOC4_ENST00000539845.1_Silent_p.I276I|EXOC4_ENST00000393161.2_Silent_p.I377I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	377					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGGAAGATATCAAACTGTATG	0.438000													5	44					0	0	0.000602	0	0
SV2A	9900	broad.mit.edu	37	1	149880812	149880812	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:149880812G>A	ENST00000369146.3	-	8	1801	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	SV2A_ENST00000369145.1_Silent_p.S437S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	437					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACCAAAACAGGAGAGAAAAT	0.512000													12	69					0	0	0.001368	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600937	22600937	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22600937G>A	ENST00000390456.3	+	0	282																											TCTACCTGAGGAAACCATCAA	0.507000													11	35					0	0	0.000978	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745293	140745293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140745293C>T	ENST00000518069.1	+	1	1396	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAACAATCCCAGAGGTGT	0.532000													32	125					0	0	0.001786	0	0
ADH1B	125	broad.mit.edu	37	4	100235103	100235103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:100235103C>T	ENST00000305046.8	-	6	770	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E195K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	235				E -> V (in Ref. 13; AAA51592).	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCACCCAACTCTTTGGCCTTT	0.483000													62	271					0	0	0.003610	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155672	173155672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:173155672C>T	ENST00000281834.3	-	3	671	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	TNFSF4_ENST00000367718.1_Missense_Mutation_p.E129K	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	179					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						ACACAGAATTCACCAGGATTT	0.468000													8	48					0	0	0.004482	0	0
TRAF7	84231	broad.mit.edu	37	16	2223538	2223538	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2223538G>T	ENST00000326181.6	+	11	1201	c.1069G>T	c.(1069-1071)Gac>Tac	p.D357Y		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	357					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GTTCCGGCGGGACGCATCCAT	0.677000													10	37					6.40141e-05	7.30319e-05	0.000978	1	0
PRR23B	389151	broad.mit.edu	37	3	138738754	138738754	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:138738754G>A	ENST00000329447.5	-	1	1014	c.750C>T	c.(748-750)ctC>ctT	p.L250L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	250	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCGTTCCGGGAGCGGCGAGC	0.672000													8	38					0	0	0.008291	0	0
IRAK4	51135	broad.mit.edu	37	12	44176257	44176257	+	Silent	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:44176257A>G	ENST00000431837.1	+	8	1025	c.717A>G	c.(715-717)gaA>gaG	p.E239E	IRAK4_ENST00000551736.1_Silent_p.E363E|IRAK4_ENST00000448290.2_Silent_p.E363E|IRAK4_ENST00000440781.2_Silent_p.E239E	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	363	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGCGTGGAGAAATAACACCCA	0.388000													5	44					0	0	0.000602	0	0
SGMS1	259230	broad.mit.edu	37	10	52103686	52103686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:52103686C>T	ENST00000361781.2	-	7	1148	c.189G>A	c.(187-189)atG>atA	p.M63I	SGMS1_ENST00000361543.2_Missense_Mutation_p.M63I|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	69	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGTTTCTATCATGTCCAGGA	0.532000													10	60					0	0	0.000978	0	0
CCNB3	85417	broad.mit.edu	37	X	50052722	50052722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:50052722C>T	ENST00000376042.1	+	6	1851	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S518L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	518					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGAAAAGTCACTTATTAAG	0.408000													7	11					0	0	0.001984	0	0
ZNF268	10795	broad.mit.edu	37	12	133779296	133779296	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:133779296A>C	ENST00000536435.2	+	6	1354	c.1024A>C	c.(1024-1026)Agt>Cgt	p.S342R	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.S342R|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.S181R|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAAAACATTCAGTTTCCATTC	0.398000													4	14					0	0	0.000248	0	0
SLIT2	9353	broad.mit.edu	37	4	20525515	20525515	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:20525515C>T	ENST00000504154.1	+	13	1515	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	SLIT2_ENST00000503837.1_Silent_p.A425A|SLIT2_ENST00000503823.1_Silent_p.A421A|SLIT2_ENST00000273739.5_Silent_p.A425A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	421					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCTTCGGGCCATTCAAACTA	0.418000													9	93					0	0	0.006214	0	0
TKTL2	84076	broad.mit.edu	37	4	164394562	164394562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:164394562C>T	ENST00000280605.3	-	1	485	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	109						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGGTGTCTCTCCAAGTCGCTG	0.532000													5	29					0	0	0.001168	0	0
C12orf56	115749	broad.mit.edu	37	12	64746779	64746779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:64746779G>A	ENST00000543942.2	-	2	936	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.R104C	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	104										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TAGATGATACGAATGTGTTGG	0.328000													27	76					0	0	0.007291	0	0
FAT3	120114	broad.mit.edu	37	11	92430568	92430568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:92430568C>T	ENST00000298047.6	+	3	3643	c.3626C>T	c.(3625-3627)tCa>tTa	p.S1209L	FAT3_ENST00000525166.1_Missense_Mutation_p.S1059L|FAT3_ENST00000409404.2_Missense_Mutation_p.S1209L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1209	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACAACTTCAAGGAAATTG	0.378000										TCGA Ovarian(4;0.039)			66	180					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985178	62985178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62985178G>A	ENST00000403374.2	-	4	341	c.38C>T	c.(37-39)tCt>tTt	p.S13F	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.S179F|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	179					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTGGAGGTAAGACCATCTGAG	0.507000													9	54					0	0	0.001368	0	0
CYYR1	116159	broad.mit.edu	37	21	27852747	27852747	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:27852747C>T	ENST00000299340.4	-	3	521	c.176_splice	c.e3-1	p.G60_splice	AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000400043.3_Splice_Site_p.G60_splice|CYYR1_ENST00000435845.2_3'UTR	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	60						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATTGCAGTGCCCCTAAAAGGA	0.398000													13	37					0	0	0.001855	0	0
LRRC52	440699	broad.mit.edu	37	1	165513753	165513753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:165513753G>A	ENST00000294818.1	+	1	510	c.220G>A	c.(220-222)Gga>Aga	p.G74R	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	74						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AATGCATCTAGGACTCCTCAG	0.478000													28	164					0	0	0.007291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761794	77761794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:77761794G>A	ENST00000521891.2	+	8	4140	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1186H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1186H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1205H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCAAAGTCGTATCCAGATG	0.423000										HNSCC(33;0.089)			12	72					0	0	0.002450	0	0
VPS13D	55187	broad.mit.edu	37	1	12374214	12374214	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12374214C>T	ENST00000358136.3	+	30	7108	c.6978C>T	c.(6976-6978)tcC>tcT	p.S2326S	VPS13D_ENST00000356315.4_Silent_p.S2326S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2326					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGTTTTTCCAACCAAACCA	0.403000													5	24					0	0	0.000602	0	0
DPCR1	135656	broad.mit.edu	37	6	30920880	30920880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30920880C>T	ENST00000462446.1	+	3	4196	c.4168C>T	c.(4168-4170)Cct>Tct	p.P1390S	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.P232S			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	514						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGGCCAGATCCCTTCCCCACG	0.567000													7	30					0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40362950	40362950	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:40362950C>T	ENST00000221347.6	-	32	15127	c.15120G>A	c.(15118-15120)gaG>gaA	p.E5040E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5040	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGTGCAGTCTCCTCTGCCA	0.697000													7	59					0	0	0.003080	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028885	14028885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:14028885C>T	ENST00000318003.7	+	7	992	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P251S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	251	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTTCCAGGTCCCTGCAGCCC	0.537000													5	47					0	0	0.001168	0	0
SNTB1	6641	broad.mit.edu	37	8	121644785	121644785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:121644785C>T	ENST00000395601.3	-	4	1309	c.895G>A	c.(895-897)Gac>Aac	p.D299N	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.D299N	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	299					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCAGCAGGTCATTAACGTTG	0.537000													4	44					0	0	0.000248	0	0
VPS54	51542	broad.mit.edu	37	2	64211013	64211013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:64211013G>A	ENST00000272322.4	-	2	275	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	VPS54_ENST00000409558.3_Missense_Mutation_p.P41S	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	41					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GGTTCCTTGGGACACACATCT	0.383000													25	96					0	0	0.007291	0	0
SH2B2	10603	broad.mit.edu	37	7	101957774	101957774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:101957774C>T	ENST00000536178.1	+	8	1463	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	SH2B2_ENST00000306803.8_Missense_Mutation_p.P435L			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	436	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCAGGGGGGCCCCGGAACCAC	0.627000													4	27					0	0	0.000248	0	0
NOVA1	4857	broad.mit.edu	37	14	26917661	26917661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:26917661C>T	ENST00000539517.2	-	5	1345	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	NOVA1_ENST00000465357.2_Missense_Mutation_p.G319E|NOVA1_ENST00000267422.7_Missense_Mutation_p.G221E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	346	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		agccaaagcccctgttgctgc	0.522000													5	15					0	0	0.000602	0	0
SLIT2	9353	broad.mit.edu	37	4	20620412	20620412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:20620412G>A	ENST00000504154.1	+	37	4622	c.4370G>A	c.(4369-4371)aGg>aAg	p.R1457K	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1453K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1449K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1470K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1457	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAGGGGAAAGGATAAGAGAT	0.448000													14	63					0	0	0.002450	0	0
LVRN	206338	broad.mit.edu	37	5	115335561	115335561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:115335561G>A	ENST00000357872.4	+	7	1601	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AQPEP_ENST00000395528.2_Missense_Mutation_p.E10K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		493					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CAAAACAAGTGAAATACAGGA	0.353000													10	42					0	0	0.006214	0	0
DSC2	1824	broad.mit.edu	37	18	28671044	28671044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28671044G>A	ENST00000280904.6	-	4	864	c.421C>T	c.(421-423)Cct>Tct	p.P141S	DSC2_ENST00000251081.6_Missense_Mutation_p.P141S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	141	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCGAACAAGGAATTGGAGCC	0.398000													4	19					0	0	0.000248	0	0
SOX5	6660	broad.mit.edu	37	12	23893968	23893968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:23893968G>A	ENST00000546136.1	-	4	537	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	SOX5_ENST00000541847.1_Missense_Mutation_p.P182S|SOX5_ENST00000381381.2_Missense_Mutation_p.P179S|SOX5_ENST00000309359.1_Missense_Mutation_p.P179S|SOX5_ENST00000545921.1_Missense_Mutation_p.P182S|SOX5_ENST00000537393.1_Missense_Mutation_p.P157S|SOX5_ENST00000451604.2_Missense_Mutation_p.P192S|SOX5_ENST00000541536.1_Missense_Mutation_p.P179S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	192					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGCTCTCGGGAGTCCCTACA	0.418000													5	35					0	0	0.000602	0	0
LGALS2	3957	broad.mit.edu	37	22	37966596	37966596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:37966596C>T	ENST00000215886.4	-	3	410	c.236G>A	c.(235-237)gGg>gAg	p.G79E		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	79	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					GACCTCTGACCCTGGGCTGAA	0.587000													36	126					0	0	0.006999	0	0
MAML2	84441	broad.mit.edu	37	11	95712580	95712580	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:95712580T>C	ENST00000524717.1	-	5	4287	c.3003A>G	c.(3001-3003)caA>caG	p.Q1001Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1001					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTACTGCCTGTTGCAGTGACT	0.522000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	21					0	0	0.001168	0	0
NAALADL1	10004	broad.mit.edu	37	11	64822107	64822107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:64822107G>A	ENST00000358658.3	-	5	734	c.707C>T	c.(706-708)tCc>tTc	p.S236F	NAALADL1_ENST00000340252.4_Missense_Mutation_p.S236F|NAALADL1_ENST00000355369.2_Missense_Mutation_p.S236F|NAALADL1_ENST00000355721.3_Missense_Mutation_p.S195F|NAALADL1_ENST00000356632.3_Missense_Mutation_p.S236F|NAALADL1_ENST00000339885.2_Missense_Mutation_p.S236F	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	236					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTACCAGGAGTTGGGAAA	0.612000											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	10	30					0	0	0.008291	0	0
IMPG1	3617	broad.mit.edu	37	6	76657183	76657183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:76657183C>T	ENST00000369950.3	-	14	2081	c.1892G>A	c.(1891-1893)gGg>gAg	p.G631E	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	631	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATCACACTCCCGTTTCTGAA	0.413000													3	21					0	0	0.004672	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428094	6428094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:6428094G>A	ENST00000536531.1	+	12	1638	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000011684.7_Intron|PLEKHG6_ENST00000396988.3_Intron			Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	560	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCAGCGAGGGGAAGGAGGAGC	0.557000													6	17					0	0	0.001168	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678318	66678318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:66678318G>A	ENST00000360242.5	+	7	1528	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	CCDC102B_ENST00000584156.1_Missense_Mutation_p.G471R|CCDC102B_ENST00000319445.6_Missense_Mutation_p.G471R	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	471										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACTAAAGCAGGGACTCAATCA	0.383000													4	32					0	0	0.000248	0	0
CUL4A	8451	broad.mit.edu	37	13	113909011	113909011	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:113909011A>G	ENST00000451881.1	+	17	1706	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	CUL4A_ENST00000375440.4_Missense_Mutation_p.K586R|CUL4A_ENST00000375441.3_Missense_Mutation_p.K486R|CUL4A_ENST00000326335.4_Missense_Mutation_p.K486R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	586					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TTCCAGGGGAAGAAGGAATTC	0.438000													15	100					0	0	0.004990	0	0
MYH7	4625	broad.mit.edu	37	14	23888698	23888698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:23888698C>T	ENST00000355349.3	-	28	4009	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1283					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCACCATTCTCGGTTTGCAAC	0.607000													35	86					0	0	0.004878	0	0
UNC5D	137970	broad.mit.edu	37	8	35624420	35624420	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:35624420G>A	ENST00000287272.2	+	14	2127	c.2106_splice	c.e14-1	p.E703_splice	UNC5D_ENST00000416672.1_Splice_Site_p.E777_splice|UNC5D_ENST00000404895.2_Splice_Site_p.E772_splice|UNC5D_ENST00000420357.1_Splice_Site_p.E705_splice|UNC5D_ENST00000453357.2_Splice_Site_p.E767_splice|UNC5D_ENST00000449677.1_Splice_Site_p.E348_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	772	Interaction with DCC (By similarity).				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCCCTGCAGGAAGTCCCGTT	0.562000													4	43					0	0	0.001168	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049478	36049478	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:36049478A>G	ENST00000282507.3	-	4	457	c.356T>C	c.(355-357)tTg>tCg	p.L119S	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L85S|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	119						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGCACTGCAACGCCAAGTA	0.299000													6	51					0	0	0.001984	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513009	70513009	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:70513009G>A	ENST00000503640.1	-	1	409	c.354C>T	c.(352-354)ttC>ttT	p.F118F	UGT2A1_ENST00000286604.4_Silent_p.F118F|UGT2A1_ENST00000512704.1_Silent_p.F118F|UGT2A1_ENST00000514019.1_Silent_p.F118F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	118					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACACCATGTGGAAGTCCTTGA	0.428000													11	43					0	0	0.001368	0	0
CD300LG	146894	broad.mit.edu	37	17	41926310	41926310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:41926310G>A	ENST00000588884.1	+	2	492	c.428G>A	c.(427-429)gGa>gAa	p.G143E	CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000317310.4_Intron|CD300LG_ENST00000539718.1_Intron|CD300LG_ENST00000293396.8_Intron			Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	0						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGCAGAGGGAAGAGGGAGG	0.557000													4	18					0	0	0.000248	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69424032	69424032	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:69424032C>T	ENST00000357336.3	+	15	2609	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	776										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGACTTCGTGCTAGAAG	0.348000													40	72					0	0	0.006999	0	0
GRM3	2913	broad.mit.edu	37	7	86468214	86468214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86468214G>A	ENST00000361669.2	+	4	2483	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	GRM3_ENST00000536043.1_Missense_Mutation_p.G334R|GRM3_ENST00000546348.1_Missense_Mutation_p.G54R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	462					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTGGAGATGGAATGGGGCG	0.378000													9	27					0	0	0.004482	0	0
F13A1	2162	broad.mit.edu	37	6	6225075	6225075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:6225075C>T	ENST00000264870.3	-	7	1082	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	273					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGGACACCTTCGTCATCTTTG	0.498000													12	56					0	0	0.001368	0	0
ABCA13	154664	broad.mit.edu	37	7	48411914	48411914	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:48411914C>T	ENST00000435803.1	+	33	10977	c.10953C>T	c.(10951-10953)ttC>ttT	p.F3651F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3651					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTGTTTTCCTCTTTCTCT	0.468000													30	133					0	0	0.002836	0	0
ARMC4	55130	broad.mit.edu	37	10	28149631	28149631	+	Missense_Mutation	SNP	C	C	T	rs146309511		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:28149631C>T	ENST00000305242.5	-	19	3036	c.2944G>A	c.(2944-2946)Gcg>Acg	p.A982T	ARMC4_ENST00000537576.1_Missense_Mutation_p.A674T|ARMC4_ENST00000545014.1_Missense_Mutation_p.A507T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	982							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGAGCTGTCGCCCGATGCACG	0.498000													22	70					0	0	0.002780	0	0
LRP1	4035	broad.mit.edu	37	12	57570936	57570936	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:57570936C>T	ENST00000243077.3	+	25	4570	c.4104C>T	c.(4102-4104)atC>atT	p.I1368I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1368					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGATCAGATCGAGGTGGCCA	0.612000													9	52					0	0	0.004482	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166981	180166981	+	Silent	SNP	G	G	A	rs146483228		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:180166981G>A	ENST00000307832.2	-	1	118	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACAAACAGGATGGGCTCCA	0.468000													8	22					0	0	0.004482	0	0
PER2	8864	broad.mit.edu	37	2	239162200	239162200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:239162200G>A	ENST00000254657.3	-	19	2743	c.2464C>T	c.(2464-2466)Ccg>Tcg	p.P822S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	822					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCCACCAGCGGGGGCCGGGCG	0.612000													3	15					0	0	0.000248	0	0
OTOGL	283310	broad.mit.edu	37	12	80661098	80661098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:80661098C>T	ENST00000458043.2	+	21	2435	c.2429C>T	c.(2428-2430)tCg>tTg	p.S810L	OTOGL_ENST00000547103.1_Missense_Mutation_p.S810L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCCACACCCTCGGGCTTATGG	0.333000													4	14					0	0	0.000602	0	0
FABP1	2168	broad.mit.edu	37	2	88425859	88425859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:88425859C>T	ENST00000393750.3	-	2	107	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	FABP1_ENST00000295834.3_Missense_Mutation_p.E26K|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	26					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ATGAGCTCTTCCGGCAGACCT	0.527000													29	160					0	0	0.001786	0	0
BRINP1	1620	broad.mit.edu	37	9	121976369	121976369	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:121976369G>A	ENST00000265922.3	-	6	1211	c.750C>T	c.(748-750)atC>atT	p.I250I	DBC1_ENST00000373964.2_Silent_p.I250I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		250	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CATTGCACATGATATAGCTCA	0.512000													13	54					0	0	0.001368	0	0
FGD6	55785	broad.mit.edu	37	12	95603226	95603226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:95603226C>T	ENST00000343958.4	-	2	2057	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	FGD6_ENST00000549499.1_Missense_Mutation_p.E612K|FGD6_ENST00000546711.1_Missense_Mutation_p.E612K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	612					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGCACTTTTCCACATCCATA	0.413000													27	119					0	0	0.006320	0	0
MUC21	394263	broad.mit.edu	37	6	30955083	30955083	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30955083C>T	ENST00000376296.3	+	2	1372	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	377	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCCACCAACTCTGAGTCCA	0.632000													17	119					0	0	0.006122	0	0
ENAM	10117	broad.mit.edu	37	4	71509905	71509905	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:71509905A>G	ENST00000396073.3	+	9	3043	c.2762A>G	c.(2761-2763)gAt>gGt	p.D921G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	921					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGACAAGAGATATCATCTCC	0.493000													20	45					0	0	0.001882	0	0
DNM3	26052	broad.mit.edu	37	1	172007500	172007500	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:172007500G>A	ENST00000358155.4	+	7	1067	c.891G>A	c.(889-891)agG>agA	p.R297R	DNM3_ENST00000355305.5_Silent_p.R297R|DNM3_ENST00000367733.2_Silent_p.R297R|DNM3_ENST00000520906.1_Silent_p.R297R|DNM3_ENST00000367731.1_Silent_p.R297R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	297					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAACTTCAGGAACAAACTAC	0.388000													10	65					0	0	0.006214	0	0
CD163	9332	broad.mit.edu	37	12	7639179	7639179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:7639179C>T	ENST00000359156.4	-	10	2576	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CD163_ENST00000541972.1_Missense_Mutation_p.E780K|CD163_ENST00000432237.2_Missense_Mutation_p.E792K|CD163_ENST00000396620.3_Missense_Mutation_p.E825K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGCGGGATTCTTTTCCATTG	0.512000													30	146					0	0	0.003271	0	0
MGAT2	4247	broad.mit.edu	37	14	50089057	50089057	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:50089057T>C	ENST00000305386.2	+	1	1569	c.1071T>C	c.(1069-1071)tgT>tgC	p.C357C	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	357					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGTATCTTGTCTTCCAAAAT	0.433000													15	84					0	0	0.004007	0	0
F2R	2149	broad.mit.edu	37	5	76028685	76028685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:76028685C>T	ENST00000319211.4	+	2	900	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	212					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGTCCCTCTCCTGGCGTACT	0.532000													31	144					0	0	0.002445	0	0
CCAR2	57805	broad.mit.edu	37	8	22473055	22473055	+	Silent	SNP	C	C	T	rs140743871	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:22473055C>T	ENST00000308511.4	+	12	1572	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	KIAA1967_ENST00000389279.3_Silent_p.A441A|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.A116A			Q8N163	K1967_HUMAN		441					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGTGGGAGGCCCTGTGCCAGC	0.622000													15	108					0	0	0.006122	0	0
OR52A1	23538	broad.mit.edu	37	11	5173472	5173472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5173472C>T	ENST00000380367.1	-	2	545	c.128G>A	c.(127-129)gGa>gAa	p.G43E	OR52A1_ENST00000328942.1_Missense_Mutation_p.G43E			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	43					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGAATTTCCAATCATAGC	0.468000													18	65					0	0	0.006122	0	0
CTIF	9811	broad.mit.edu	37	18	46190191	46190191	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:46190191C>T	ENST00000256413.3	+	4	616	c.321C>T	c.(319-321)tcC>tcT	p.S107S	CTIF_ENST00000382998.4_Silent_p.S107S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	107	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCTTCGATTCCTTCAGGTAAC	0.562000											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	72					0	0	0.002299	0	0
TGM4	7047	broad.mit.edu	37	3	44945383	44945383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44945383C>T	ENST00000296125.4	+	9	1047	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	327					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CAGGAATTTCCATGTGTGGAC	0.587000													25	132					0	0	0.003954	0	0
AGO4	192670	broad.mit.edu	37	1	36299718	36299718	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:36299718A>G	ENST00000373210.3	+	12	1752	c.1507A>G	c.(1507-1509)Act>Gct	p.T503A		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TCTGAAAATGACTTATGTGGG	0.453000													5	44					0	0	0.001168	0	0
LYPD2	137797	broad.mit.edu	37	8	143832508	143832508	+	Missense_Mutation	SNP	C	C	T	rs145933616	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:143832508C>T	ENST00000359228.3	-	2	221	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	47	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACATGGTTTCGTTGGTGGTG	0.652000													25	119					0	0	0.005443	0	0
SNHG12	85028	broad.mit.edu	37	1	28905116	28905116	+	RNA	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:28905116A>C	ENST00000488745.1	-	0	1301				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							ACACTGCATAATTTTTTGCAT	0.368000													7	27					0	0	0.001984	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:110835597C>T	ENST00000296632.3	-	6	739	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000													7	57					0	0	0.001984	0	0
FGD5	152273	broad.mit.edu	37	3	14861871	14861871	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:14861871G>A	ENST00000285046.5	+	1	1403	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	FGD5_ENST00000543601.1_Silent_p.V190V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	431					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCCCTATGTGATGGGAGTGG	0.647000													12	40					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179614469	179614469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179614469C>T	ENST00000360870.5	-	46	12880	c.12658G>A	c.(12658-12660)Gat>Aat	p.D4220N	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3564							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D4220N(1)		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)			GAATTAACATCCTTAATATAT	0.358000													12	40					0	0	0.001368	0	0
BMPER	168667	broad.mit.edu	37	7	34118710	34118710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:34118710G>A	ENST00000297161.2	+	13	1694	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	BMPER_ENST00000426693.1_Nonsense_Mutation_p.W440*	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	440	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCGTGCGCTGGAACGGCTCGC	0.667000													18	62					0	0	0.001882	0	0
SETBP1	26040	broad.mit.edu	37	18	42530559	42530559	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:42530559G>A	ENST00000282030.5	+	4	1550	c.1254G>A	c.(1252-1254)agG>agA	p.R418R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGAC	0.453000									Schinzel-Giedion syndrome				11	34					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	8996444	8996444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:8996444G>A	ENST00000397910.4	-	61	41331	c.41128C>T	c.(41128-41130)Cac>Tac	p.H13710Y	MUC16_ENST00000380951.5_Missense_Mutation_p.H351Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13712	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGGGTGGTGGGTGCAG	0.562000													15	52					0	0	0.004007	0	0
TAF1L	138474	broad.mit.edu	37	9	32634401	32634401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:32634401C>T	ENST00000242310.4	-	1	1266	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	393					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCACAGGTTCATGTTGTGTC	0.463000													24	103					0	0	0.002780	0	0
HHLA2	11148	broad.mit.edu	37	3	108073967	108073967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:108073967C>T	ENST00000357759.5	+	5	838	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	HHLA2_ENST00000467562.1_Missense_Mutation_p.L78F|HHLA2_ENST00000491820.1_Missense_Mutation_p.L142F|HHLA2_ENST00000489514.2_Missense_Mutation_p.L142F|HHLA2_ENST00000467761.1_Missense_Mutation_p.L142F	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	142	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGTAGTTTTTCTCACACCCGT	0.383000													12	18					0	0	0.001855	0	0
IGSF1	3547	broad.mit.edu	37	X	130419974	130419974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:130419974G>A	ENST00000370904.1	-	10	1029	c.119C>T	c.(118-120)gCc>gTc	p.A40V	IGSF1_ENST00000370903.3_Missense_Mutation_p.A49V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A49V|IGSF1_ENST00000370900.1_Missense_Mutation_p.A49V|IGSF1_ENST00000370901.4_Missense_Mutation_p.A49V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A40V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	49	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCCAAGGGGCCTGGGGGTA	0.527000													22	48					0	0	0.003330	0	0
GPR98	84059	broad.mit.edu	37	5	89990217	89990217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:89990217G>A	ENST00000405460.2	+	33	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393000													16	95					0	0	0.004007	0	0
ST7L	54879	broad.mit.edu	37	1	113153605	113153605	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:113153605G>A	ENST00000358039.4	-	3	613	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ST7L_ENST00000544629.1_Silent_p.F103F|ST7L_ENST00000490067.1_Silent_p.F86F|ST7L_ENST00000538187.1_Silent_p.F47F|ST7L_ENST00000543570.1_Silent_p.F86F|ST7L_ENST00000369666.1_Silent_p.F86F|ST7L_ENST00000369668.2_Silent_p.F103F|ST7L_ENST00000360743.4_Silent_p.F103F|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000343210.7_Silent_p.F103F	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	103					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCTTATGGAAGTACCACC	0.393000													4	25					0	0	0.000248	0	0
UBR4	23352	broad.mit.edu	37	1	19426927	19426927	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:19426927G>A	ENST00000375267.2	-	89	13167	c.13164C>T	c.(13162-13164)aaC>aaT	p.N4388N	UBR4_ENST00000375224.1_Silent_p.N95N|UBR4_ENST00000375254.3_Silent_p.N4388N|UBR4_ENST00000375217.2_Silent_p.N4381N|UBR4_ENST00000375226.2_Silent_p.N4364N|UBR4_ENST00000543981.1_Silent_p.N79N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4388					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAAATCTTGTTCTTTATAT	0.527000													26	101					0	0	0.004656	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824142	102824142	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102824142C>T	ENST00000370200.5	+	3	962	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	212	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCTTGGACATCCAGCTGCCAG	0.582000													9	23					0	0	0.006214	0	0
ATP8B4	79895	broad.mit.edu	37	15	50288950	50288950	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:50288950C>T	ENST00000284509.6	-	9	654	c.513G>A	c.(511-513)acG>acA	p.T171T	ATP8B4_ENST00000559829.1_Silent_p.T171T|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	171					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTTTAGGTTCGTTTCCCTGT	0.408000													4	18					0	0	0.000248	0	0
ALMS1	7840	broad.mit.edu	37	2	73716847	73716847	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73716847C>T	ENST00000264448.6	+	10	7869	c.7758C>T	c.(7756-7758)ttC>ttT	p.F2586F	ALMS1_ENST00000409009.1_Silent_p.F2544F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2586					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGGATGTTTCCGGACTCTAA	0.458000													17	71					0	0	0.004007	0	0
ADAM18	8749	broad.mit.edu	37	8	39468211	39468211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39468211C>T	ENST00000265707.5	+	6	553	c.508C>T	c.(508-510)Cct>Tct	p.P170S	ADAM18_ENST00000379866.1_Missense_Mutation_p.P170S|ADAM18_ENST00000520772.1_Missense_Mutation_p.P170S|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	170					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P170S(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTACAAAGTTCCTTTAAACTC	0.323000													6	33					0	0	0.003080	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187597	37187597	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:37187597C>T	ENST00000425901.2	+	0	1439					NR_033753.2																						TCAGGAGACCCCAACTTAGCC	0.507000													13	55					0	0	0.001368	0	0
MAP2K4	6416	broad.mit.edu	37	17	11984723	11984723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:11984723C>T	ENST00000415385.3	+	4	355	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MAP2K4_ENST00000353533.5_Missense_Mutation_p.S90F			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	90					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTGAAGATCTCCCCTGAACAA	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								7	26					0	0	0.003080	0	0
MYH13	8735	broad.mit.edu	37	17	10233820	10233820	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:10233820G>A	ENST00000418404.3	-	20	2482	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	MYH13_ENST00000570743.1_Silent_p.L773L|MYH13_ENST00000252172.4_Silent_p.L773L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	773	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAAGTCCCAGGAGCCCAGCTT	0.557000													3	5					0	0	0.000248	0	0
CCDC170	80129	broad.mit.edu	37	6	151939132	151939132	+	Silent	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:151939132C>A	ENST00000367290.5	+	11	2108	c.2019C>A	c.(2017-2019)acC>acA	p.T673T	CCDC170_ENST00000239374.7_Silent_p.T666T			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	666																	TGAACGTGACCAGCCTTGCTC	0.443000													7	73					0.000274275	0.000312334	0.004482	1	0
GABBR2	9568	broad.mit.edu	37	9	101125068	101125068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:101125068C>T	ENST00000259455.2	-	13	2281	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	608					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATACACAGGTCGATCAGCAGC	0.587000													8	38					0	0	0.003080	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010837	173010837	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:173010837T>A	ENST00000404377.3	-	3	270	c.270A>T	c.(268-270)aaA>aaT	p.K90N	TNFSF18_ENST00000239468.2_Missense_Mutation_p.K68N|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	90					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCATTTGCCATTTTGAGGGTA	0.343000													27	127					0	0	0.001786	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417521	150417521	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150417521C>T	ENST00000307194.5	+	3	569	c.429C>T	c.(427-429)gtC>gtT	p.V143V		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGAGGACGTCCTAAAATGGA	0.647000													18	62					0	0	0.004990	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:181745324G>A	ENST00000526775.1	+	37	5335	c.5170G>A	c.(5170-5172)Gag>Aag	p.E1724K	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1743K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1743					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000													23	107					0	0	0.002299	0	0
TRPM2	7226	broad.mit.edu	37	21	45817680	45817680	+	Silent	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:45817680A>G	ENST00000397928.1	+	13	2428	c.1983A>G	c.(1981-1983)gaA>gaG	p.E661E	TRPM2_ENST00000397932.2_Silent_p.E661E|TRPM2_ENST00000300482.5_Silent_p.E661E|TRPM2_ENST00000300481.9_Silent_p.E641E|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	661						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCTGAAGGAACTGTCCAAGG	0.637000													5	31					0	0	0.000602	0	0
EGR4	1961	broad.mit.edu	37	2	73519395	73519395	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73519395C>T	ENST00000545030.1	-	2	1034	c.960G>A	c.(958-960)ggG>ggA	p.G320G	EGR4_ENST00000436467.2_Silent_p.G217G	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	216						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCACAGTTCCCTGGGGCCC	0.672000													4	19					0	0	0.000602	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534935	24534935	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:24534935T>C	ENST00000342740.5	+	34	3655	c.3501T>C	c.(3499-3501)ggT>ggC	p.G1167G	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1167										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCCAAGGGTTGGAGCTTCG	0.622000													22	82					0	0	0.002780	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216149	140216149	+	Silent	SNP	C	C	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140216149C>G	ENST00000525929.1	+	1	2181	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.S727S|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCGTCCTCTGAGGGCG	0.612000													12	45					0	0	0.001368	0	0
COL2A1	1280	broad.mit.edu	37	12	48369372	48369372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:48369372G>A	ENST00000380518.3	-	51	3778	c.3614C>T	c.(3613-3615)cCt>cTt	p.P1205L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P1136L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1205	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGGGGTCCAGGATTTCCAGG	0.597000													4	40					0	0	0.001168	0	0
MADD	8567	broad.mit.edu	37	11	47350616	47350616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:47350616C>T	ENST00000342922.4	+	33	5039	c.4682C>T	c.(4681-4683)tCc>tTc	p.S1561F	MADD_ENST00000349238.3_Missense_Mutation_p.S1581F|MADD_ENST00000311027.5_Missense_Mutation_p.S1620F|MADD_ENST00000407859.3_Missense_Mutation_p.S1538F|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.S1518F|MADD_ENST00000402192.2_Missense_Mutation_p.S1560F|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.S1514F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1620					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.S1620F(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATCTGCTACTCCGTATTATGT	0.537000													57	128					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325624	79325624	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:79325624G>A	ENST00000428286.1	-	8	1689	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PRUNE2_ENST00000376718.3_Silent_p.F522F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	522					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGTTGGGGAAGAAGTCAT	0.507000													4	16					0	0	0.000602	0	0
ABCA12	26154	broad.mit.edu	37	2	215845306	215845306	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:215845306G>A	ENST00000272895.7	-	31	4860	c.4641C>T	c.(4639-4641)atC>atT	p.I1547I	ABCA12_ENST00000389661.4_Silent_p.I1229I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1547	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGGAAGGCGATGCGGTCAC	0.517000													12	87					0	0	0.000978	0	0
CHD9	80205	broad.mit.edu	37	16	53283919	53283919	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:53283919A>T	ENST00000566029.1	+	17	4011	c.3802A>T	c.(3802-3804)Act>Tct	p.T1268S	CHD9_ENST00000447540.1_Missense_Mutation_p.T1268S|CHD9_ENST00000564845.1_Missense_Mutation_p.T1268S|CHD9_ENST00000398510.3_Missense_Mutation_p.T1268S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1268	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATCAACTTAACTGCAGCTGA	0.353000													18	83					0	0	0.001523	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121646	38121646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:38121646C>T	ENST00000406386.3	+	7	3338	c.3083C>T	c.(3082-3084)tCg>tTg	p.S1028L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1028					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGAGCCTCTTCGCCCCCTCGC	0.657000													17	91					0	0	0.006122	0	0
NRAP	4892	broad.mit.edu	37	10	115350562	115350562	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:115350562G>A	ENST00000369358.4	-	40	4999	c.4755C>T	c.(4753-4755)ttC>ttT	p.F1585F	NRAP_ENST00000360478.3_Silent_p.F1542F|NRAP_ENST00000369360.3_Silent_p.F1550F|NRAP_ENST00000359988.3_Silent_p.F1577F			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1577						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)		CAACGTTGAGGAAATGCTTCA	0.567000													13	64					0	0	0.001855	0	0
POLD1	5424	broad.mit.edu	37	19	50905548	50905548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50905548C>T	ENST00000440232.2	+	6	729	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	POLD1_ENST00000599857.1_Missense_Mutation_p.L226F|POLD1_ENST00000595904.1_Missense_Mutation_p.L226F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	226					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCGCCGTCTCCTGGAACA	0.692000								DNA polymerases (catalytic subunits)					12	43					0	0	0.001368	0	0
ST18	9705	broad.mit.edu	37	8	53077726	53077726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53077726G>A	ENST00000276480.7	-	12	1947	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	422						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTTCACATGACCCCTTCCT	0.403000													42	177					0	0	0.002852	0	0
CFAP54	144535	broad.mit.edu	37	12	97133744	97133744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:97133744G>A	ENST00000524981.3	+	18	2329	c.2329G>A	c.(2329-2331)Gta>Ata	p.V777I				Q6ZTY8	CL063_HUMAN		751										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCTGCAATAGTATTTTCTAC	0.313000													4	30					0	0	0.000248	0	0
LILRA5	353514	broad.mit.edu	37	19	54823417	54823417	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:54823417C>T	ENST00000301219.3	-	4	245	c.124_splice	c.e4-1	p.G42_splice	LILRA5_ENST00000346508.3_Splice_Site_p.G30_splice|LILRA5_ENST00000432233.3_Splice_Site_p.G42_splice|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.G30_splice	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	42					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGAGGTTCCCTGGAAGGA	0.622000													9	54					0	0	0.008291	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015588	129015588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:129015588C>T	ENST00000274487.4	+	17	2765	c.2620C>T	c.(2620-2622)Cct>Tct	p.P874S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	874	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCAAAGGTCCTACTACAGC	0.443000													7	54					0	0	0.004482	0	0
TINAG	27283	broad.mit.edu	37	6	54254639	54254639	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:54254639G>A	ENST00000259782.4	+	11	1443	c.1347G>A	c.(1345-1347)agG>agA	p.R449R		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	449					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTATTTCAGGATTCTTCGAG	0.388000													9	82					0	0	0.008291	0	0
LILRB1	10859	broad.mit.edu	37	19	55145134	55145134	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55145134C>A	ENST00000396331.1	+	9	1664	c.1307C>A	c.(1306-1308)aCa>aAa	p.T436K	LILRB1_ENST00000396321.2_Missense_Mutation_p.T436K|LILRB1_ENST00000324602.7_Missense_Mutation_p.T436K|LILRB1_ENST00000448689.1_Missense_Mutation_p.T436K|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000427581.2_Missense_Mutation_p.T472K|LILRB1_ENST00000434867.2_Missense_Mutation_p.T436K|LILRB1_ENST00000396327.3_Missense_Mutation_p.T436K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.T436K|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.T436K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	436					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCACCTCCACATCTGGTGAG	0.622000										HNSCC(37;0.09)			6	26					0.00198382	0.00224869	0.001984	1	0
LY6G6C	80740	broad.mit.edu	37	6	31686915	31686915	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31686915G>A	ENST00000375819.2	-	3	501	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LY6G6C_ENST00000495859.1_Silent_p.F56F	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	112						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGGAGGTAAGGAAGACAAGGC	0.617000													101	431					0	0	0.003610	0	0
KITLG	4254	broad.mit.edu	37	12	88900815	88900815	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:88900815A>G	ENST00000347404.5	-	6	1192	c.620T>C	c.(619-621)tTa>tCa	p.L207S	KITLG_ENST00000357116.4_Missense_Mutation_p.L18S|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.L235S	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	235					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTTCCAGTATAAGGCTCCAAA	0.388000									Testicular Cancer, Familial Clustering of				17	61					0	0	0.008871	0	0
WDR96	80217	broad.mit.edu	37	10	105942240	105942240	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:105942240G>A	ENST00000357060.3	-	17	2288	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	WDR96_ENST00000428666.1_Silent_p.L726L|WDR96_ENST00000278064.2_Silent_p.L656L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	725										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATAGTCCAGAATTTCACTG	0.348000													6	44					0	0	0.001168	0	0
GPR179	440435	broad.mit.edu	37	17	36483959	36483959	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:36483959C>T	ENST00000342292.4	-	11	5513	c.5493G>A	c.(5491-5493)ttG>ttA	p.L1831L	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1831						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTTTTGGTCCAATCCCTTCC	0.517000													19	107					0	0	0.001882	0	0
PAK7	57144	broad.mit.edu	37	20	9561352	9561352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:9561352C>T	ENST00000378429.3	-	5	976	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PAK7_ENST00000378423.1_Missense_Mutation_p.E144K|PAK7_ENST00000353224.5_Missense_Mutation_p.E144K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTACTTTTCGGTCGTGTAG	0.512000													47	187					0	0	0.003214	0	0
TRBC2	28638	broad.mit.edu	37	7	142499093	142499093	+	RNA	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142499093G>A	ENST00000466254.1	+	0	369																											CGTCAGCGCCGAGGCCTGGGG	0.597000													13	155					0	0	0.001368	0	0
CCDC147	159686	broad.mit.edu	37	10	106163540	106163540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:106163540G>A	ENST00000369704.3	+	14	2227	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	698										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACACGCTGCCGAGCCCTGGAG	0.488000													4	13					0	0	0.000602	0	0
RARRES3	5920	broad.mit.edu	37	11	63313664	63313664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:63313664G>A	ENST00000255688.3	+	4	479	c.431G>A	c.(430-432)gGa>gAa	p.G144E	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.G144E	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	144					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACGGCGCTTGGAATCCTGGTT	0.512000													82	186					0	0	0.003610	0	0
ALS2	57679	broad.mit.edu	37	2	202619388	202619388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:202619388G>A	ENST00000264276.6	-	6	1850	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	493					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAAGAGCCTGGGGGAAACTGA	0.483000													10	49					0	0	0.008291	0	0
OR52N4	390072	broad.mit.edu	37	11	5776340	5776340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5776340C>T	ENST00000317254.3	+	1	418	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCCTGGATCGCTATGTGGC	0.493000													22	116					0	0	0.002780	0	0
C11orf42	160298	broad.mit.edu	37	11	6231301	6231301	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6231301G>A	ENST00000316375.2	+	2	344	c.294G>A	c.(292-294)cgG>cgA	p.R98R		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	98										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCACTCGGGAATACTCAC	0.607000													12	51					0	0	0.000978	0	0
GKN1	56287	broad.mit.edu	37	2	69204770	69204770	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:69204770A>G	ENST00000377938.2	+	3	173	c.108_splice	c.e3-1	p.N37_splice		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	37					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AAACTTCAGAATATCAACGTC	0.373000													6	38					0	0	0.001168	0	0
CDC34	997	broad.mit.edu	37	19	535879	535879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:535879G>A	ENST00000215574.4	+	2	438	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	74					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCCACCAGCCTTTCGGTT	0.647000													68	229					0	0	0.003610	0	0
SYCE1	93426	broad.mit.edu	37	10	135369188	135369188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:135369188C>T	ENST00000368517.3	-	11	773	c.635G>A	c.(634-636)aGg>aAg	p.R212K	SYCE1_ENST00000432597.2_Missense_Mutation_p.R212K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.R248K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	248					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTCAGCCTTCCTGTGCTCTTC	0.637000													14	53					0	0	0.004007	0	0
PDE1C	5137	broad.mit.edu	37	7	31918645	31918645	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:31918645A>G	ENST00000396184.3	-	5	593	c.389T>C	c.(388-390)aTc>aCc	p.I130T	PDE1C_ENST00000396191.1_Missense_Mutation_p.I130T|PDE1C_ENST00000396182.2_Missense_Mutation_p.I130T|PDE1C_ENST00000396193.1_Missense_Mutation_p.I190T|PDE1C_ENST00000321453.7_Missense_Mutation_p.I130T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	130					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCGTGAACGATGCTCTTGAA	0.527000													24	104					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179596537	179596537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179596537C>T	ENST00000589042.1	-	58	17289	c.17065G>A	c.(17065-17067)Gat>Aat	p.D5689N	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5372N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4445N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5372	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGATGATCCTGAATGAAA	0.502000													17	110					0	0	0.007413	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244488	1244488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:1244488G>A	ENST00000296821.4	+	9	1313	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	SLC6A18_ENST00000324642.3_Splice_Site_p.R499_splice			Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	499					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATGAAACGGTGAGCTGCC	0.597000													10	68					0	0	0.008291	0	0
KCNU1	157855	broad.mit.edu	37	8	36793081	36793081	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:36793081T>C	ENST00000399881.3	+	27	3130	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1031						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTTCAGATCTTGTGTTTT	0.428000													24	100					0	0	0.003330	0	0
ZNF99	7652	broad.mit.edu	37	19	22939060	22939060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:22939060G>A	ENST00000397104.3	-	8	3060	c.3061C>T	c.(3061-3063)Cat>Tat	p.H1021Y						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAAAGATGGTTAAAAGCT	0.368000													8	44					0	0	0.006214	0	0
ADAP2	55803	broad.mit.edu	37	17	29283298	29283298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:29283298G>T	ENST00000330889.3	+	10	1257	c.922G>T	c.(922-924)Gag>Tag	p.E308*	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Nonsense_Mutation_p.E314*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	308	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGGGAACAAGGAGCAGGGATA	0.582000													10	36					1.08611e-07	1.2472e-07	0.000978	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801341	185801341	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:185801341G>A	ENST00000302277.6	+	4	1812	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	406						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATACTGAAGAGGTTAACATAA	0.388000													18	96					0	0	0.004990	0	0
MUC17	140453	broad.mit.edu	37	7	100683757	100683757	+	Silent	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100683757T>G	ENST00000306151.4	+	3	9124	c.9060T>G	c.(9058-9060)acT>acG	p.T3020T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3020	59 X approximate tandem repeats.|Ser-rich.					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)					CTGTGACCACTTCTACTGAAG	0.493000													64	227					0	0	0.003610	0	0
KIF18B	146909	broad.mit.edu	37	17	43009545	43009545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:43009545C>T	ENST00000587309.1	-	10	1327	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	KIF18B_ENST00000590129.1_Missense_Mutation_p.G444E|KIF18B_ENST00000593135.1_Missense_Mutation_p.G423E|KIF18B_ENST00000438933.2_Missense_Mutation_p.G435E|KIF18B_ENST00000339151.4_Missense_Mutation_p.G435E	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCTCTAGGCCCTGCAGGGAG	0.637000													11	41					0	0	0.000978	0	0
C10orf2	56652	broad.mit.edu	37	10	102750629	102750629	+	Silent	SNP	C	C	T	rs146690237	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102750629C>T	ENST00000370228.1	+	4	1781	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Silent_p.I532I	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	532	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCGTAGGATCGCAGCTCAAG	0.468000													26	126					0	0	0.001786	0	0
ATP1A3	478	broad.mit.edu	37	19	42489163	42489163	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42489163G>A	ENST00000545399.1	-	8	1092	c.939C>T	c.(937-939)tcC>tcT	p.S313S	ATP1A3_ENST00000602133.1_Silent_p.S270S|ATP1A3_ENST00000543770.1_Silent_p.S311S|ATP1A3_ENST00000302102.5_Silent_p.S300S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	300					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGAGAATGAGGGAGAGGATGA	0.572000													5	26					0	0	0.000602	0	0
CASC1	55259	broad.mit.edu	37	12	25267700	25267700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:25267700C>T	ENST00000354189.5	-	13	1710	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.D436N|CASC1_ENST00000395990.2_Missense_Mutation_p.D455N|CASC1_ENST00000320267.9_Missense_Mutation_p.D495N|CASC1_ENST00000395987.3_Missense_Mutation_p.D501N|CASC1_ENST00000537577.1_Missense_Mutation_p.D383N	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	495										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATATGAGCATCTTGAATCAAG	0.383000													10	50					0	0	0.006214	0	0
NETO2	81831	broad.mit.edu	37	16	47117523	47117523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:47117523G>A	ENST00000562435.1	-	9	1571	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	NETO2_ENST00000303155.5_Missense_Mutation_p.P389L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	396						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCATAATGAGGAGGATCAAA	0.423000										HNSCC(25;0.065)			16	62					0	0	0.004990	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536284	31536284	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:31536284C>T	ENST00000215885.3	-	1	309	c.57G>A	c.(55-57)ggG>ggA	p.G19G		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	19					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CAGGGGAGCCCCCCAGGGCCA	0.657000													9	62					0	0	0.006214	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629547	1629547	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:1629547G>A	ENST00000399685.1	-	1	146	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	23						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CGGAGCCACAGCCCCCACAGC	0.657000													29	117					0	0	0.008361	0	0
CXCR2	3579	broad.mit.edu	37	2	219000400	219000400	+	Silent	SNP	C	C	T	rs34747313		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:219000400C>T	ENST00000318507.2	+	3	1303	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	292					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCAATCACATCGACCGGGCTC	0.597000													26	74					0	0	0.004656	0	0
OR1S2	219958	broad.mit.edu	37	11	57971493	57971493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:57971493C>T	ENST00000302592.6	-	1	160	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCCCGTTCCCAACCACAGT	0.458000													36	61					0	0	0.003755	0	0
HYDIN	54768	broad.mit.edu	37	16	71212863	71212863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:71212863C>T	ENST00000393567.2	-	4	499	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HYDIN_ENST00000321489.5_Missense_Mutation_p.E117K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E117K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E117K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E117K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E134K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E134K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E144K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGGAACTTCATAGACTTCA	0.393000													25	105					0	0	0.004656	0	0
COL6A3	1293	broad.mit.edu	37	2	238244917	238244917	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:238244917C>T	ENST00000295550.4	-	40	9278	c.8826G>A	c.(8824-8826)gcG>gcA	p.A2942A	COL6A3_ENST00000472056.1_Silent_p.A2335A|COL6A3_ENST00000346358.4_Silent_p.A2742A|COL6A3_ENST00000409809.1_Silent_p.A2736A|COL6A3_ENST00000353578.4_Silent_p.A2736A|COL6A3_ENST00000347401.3_Silent_p.A2741A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2942	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2942A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACAGGCTTCGCTGCCGTTG	0.632000													20	80					0	0	0.002299	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:18688140C>T	ENST00000406451.3	+	11	1442	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	HDAC9_ENST00000432645.2_Missense_Mutation_p.S431L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S431L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S390L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S429L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S354L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S403L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S387L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S434L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S418L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000													14	54					0	0	0.003163	0	0
CFI	3426	broad.mit.edu	37	4	110667389	110667389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:110667389C>T	ENST00000394634.2	-	11	1625	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	CFI_ENST00000394635.3_Missense_Mutation_p.G481E|CFI_ENST00000512148.1_Missense_Mutation_p.G466E	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	473	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTTTCTCGTCCCCAGCCAGA	0.418000													7	32					0	0	0.001984	0	0
TNN	63923	broad.mit.edu	37	1	175116171	175116171	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:175116171G>A	ENST00000239462.4	+	19	3977	c.3864G>A	c.(3862-3864)aaG>aaA	p.K1288K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1288					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGGCAGAAAGAAGCGGACGC	0.587000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	29					0	0	0.000248	0	0
ZNF165	7718	broad.mit.edu	37	6	28056379	28056379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28056379G>A	ENST00000377325.1	+	4	1145	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	197					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCAAAGCTGGAAATTTTTGA	0.333000													11	72					0	0	0.000978	0	0
NUP210	23225	broad.mit.edu	37	3	13368919	13368919	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:13368919G>A	ENST00000254508.5	-	32	4387	c.4305C>T	c.(4303-4305)atC>atT	p.I1435I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1435					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCCTTCCCGATCTGCACAA	0.592000													6	10					0	0	0.001168	0	0
ZNF239	8187	broad.mit.edu	37	10	44053482	44053482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:44053482G>A	ENST00000306006.6	-	2	698	c.46C>T	c.(46-48)Cga>Tga	p.R16*	ZNF239_ENST00000374446.2_Nonsense_Mutation_p.R16*|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Nonsense_Mutation_p.R16*|ZNF239_ENST00000426961.1_Nonsense_Mutation_p.R16*	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTCCCCTCGATGATTCACA	0.463000													7	38					0	0	0.001984	0	0
SCAND3	114821	broad.mit.edu	37	6	28554392	28554392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28554392C>T	ENST00000452236.2	-	1	720	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	35					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GATTCCTGATCCCAAGTGTGG	0.517000													15	53					0	0	0.002450	0	0
SYT3	84258	broad.mit.edu	37	19	51140553	51140553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51140553C>T	ENST00000338916.4	-	1	749	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	SYT3_ENST00000600079.1_Missense_Mutation_p.R39Q|SYT3_ENST00000593901.1_Missense_Mutation_p.R39Q|SYT3_ENST00000544769.1_Missense_Mutation_p.R39Q	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	39						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTCGGATTCGGTCATTGAA	0.632000													24	107					0	0	0.004656	0	0
RYR1	6261	broad.mit.edu	37	19	38985093	38985093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:38985093C>T	ENST00000355481.4	+	39	6507	c.6376C>T	c.(6376-6378)Cgg>Tgg	p.R2126W	RYR1_ENST00000360985.3_Missense_Mutation_p.R2126W|RYR1_ENST00000359596.3_Missense_Mutation_p.R2126W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2126	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCCTGCACCGGCAGTACGA	0.672000													12	60					0	0	0.000978	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544202	171544202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:171544202C>T	ENST00000367742.3	+	25	7132	c.6890C>T	c.(6889-6891)tCg>tTg	p.S2297L	PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2230L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2297L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2295L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2295							protein C-terminus binding										AATTACAATTCGTTCTCAAGT	0.443000													5	24					0	0	0.000602	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882258	6882258	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:6882258C>T	ENST00000419673.2	+	10	1153	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ARHGAP28_ENST00000383472.4_Silent_p.F471F|ARHGAP28_ENST00000418986.1_Silent_p.F312F|ARHGAP28_ENST00000400091.2_Silent_p.F471F|ARHGAP28_ENST00000314319.3_Silent_p.F312F|ARHGAP28_ENST00000262227.3_Silent_p.F419F|ARHGAP28_ENST00000531294.1_Silent_p.F307F|ARHGAP28_ENST00000532996.1_Silent_p.F294F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	294					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCTCTCTCTTCCCTGTGGAAT	0.388000													10	40					0	0	0.000978	0	0
EDC4	23644	broad.mit.edu	37	16	67914531	67914531	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:67914531C>T	ENST00000358933.5	+	18	2408	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	723					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCAAGCCTCCCCTAGCCGCA	0.617000													37	161					0	0	0.006230	0	0
CR1	1378	broad.mit.edu	37	1	207753681	207753681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:207753681C>T	ENST00000367049.4	+	30	5033	c.5033C>T	c.(5032-5034)cCt>cTt	p.P1678L	CR1_ENST00000367052.1_Missense_Mutation_p.P1228L|CR1_ENST00000400960.2_Missense_Mutation_p.P1228L|CR1_ENST00000367051.1_Missense_Mutation_p.P1228L|CR1_ENST00000367053.1_Missense_Mutation_p.P1228L|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1228	Sushi 26.				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						AGCTGTGAGCCTGGCTATGAC	0.582000													29	107					0	0	0.008361	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726650	25726650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:25726650G>A	ENST00000297012.3	-	1	140	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	36					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCCCTTACGAAGCAGACGA	0.552000													5	48					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10451105	10451105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:10451105C>T	ENST00000245503.5	-	3	517	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E45K|MYH2_ENST00000397183.2_Missense_Mutation_p.E45K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	45	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	p.E45K(1)		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						ACAAAGGATTCTTTGGGCTCC	0.532000													19	84					0	0	0.001882	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560492	161560492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:161560492G>A	ENST00000320285.4	-	8	1216	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S173F	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	335					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGCGTCAGGGAAGACCCGCT	0.627000													10	112					0	0	0.000978	0	0
CNGA2	1260	broad.mit.edu	37	X	150909266	150909266	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:150909266G>A	ENST00000329903.4	+	4	408	c.374_splice	c.e4-1	p.K125_splice		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	125					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTCAGGAAGAAATTTG	0.507000													27	46					0	0	0.005443	0	0
CHMP7	91782	broad.mit.edu	37	8	23117739	23117739	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:23117739C>A	ENST00000397677.1	+	10	1851	c.1203C>A	c.(1201-1203)aaC>aaA	p.N401K	CHMP7_ENST00000313219.7_Missense_Mutation_p.N401K|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	401					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCCTGACAACCCCCGCAATA	0.458000													18	75					0.000566183	0.000644151	0.004990	1	0
MMP17	4326	broad.mit.edu	37	12	132323164	132323164	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:132323164C>T	ENST00000360564.1	+	3	402	c.300C>T	c.(298-300)gcC>gcT	p.A100A	MMP17_ENST00000535291.1_Silent_p.A16A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	100					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAGACGAGGCCACCCTGGCCC	0.662000													5	20					0	0	0.001168	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855737	12855737	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12855737C>T	ENST00000332296.7	+	4	1120	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PRAMEF1_ENST00000400814.3_Silent_p.P94P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	339										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)		GTCTTGAACCCCTCGGAGCTC	0.532000													35	187					0	0	0.008740	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702230	60702230	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:60702230C>T	ENST00000005286.4	+	9	1986	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TMEM132A_ENST00000453848.2_Silent_p.S610S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	610	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGTCACCTCCATTGAGGTAA	0.662000													9	54					0	0	0.001368	0	0
BPIFC	254240	broad.mit.edu	37	22	32853335	32853335	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:32853335G>A	ENST00000397452.1	-	2	149	c.39C>T	c.(37-39)ttC>ttT	p.F13F	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.F13F|BPIFC_ENST00000397450.1_Silent_p.F13F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	13						extracellular region	lipopolysaccharide binding|phospholipid binding										TCCACAGGAGGAAACATCCCC	0.408000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	46					0	0	0.002450	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433848	69433848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69433848C>T	ENST00000317746.2	-	1	397	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	119					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E119K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAGAATATTCCCAACACAAT	0.294000													18	53					0	0	0.008871	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536283	31536283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:31536283C>T	ENST00000215885.3	-	1	310	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	20					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCAGGGGAGCCCCCCAGGGCC	0.657000													10	61					0	0	0.006214	0	0
RAB31	11031	broad.mit.edu	37	18	9859235	9859235	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:9859235C>T	ENST00000578921.1	+	7	742	c.501C>T	c.(499-501)atC>atT	p.I167I	RAB31_ENST00000577284.1_3'UTR	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	166					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GCCGCCAGATCCCACCCTTGG	0.537000													4	24					0	0	0.000248	0	0
TENM1	10178	broad.mit.edu	37	X	123805563	123805563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:123805563C>T	ENST00000422452.2	-	6	1201	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	TENM1_ENST00000371130.3_Missense_Mutation_p.G380R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAAACTTTTCCTCCAATTGGA	0.403000													34	37					0	0	0.004289	0	0
PPARG	5468	broad.mit.edu	37	3	12421299	12421299	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:12421299T>G	ENST00000397026.2	+	4	496	c.113T>G	c.(112-114)tTt>tGt	p.F38C	PPARG_ENST00000397000.1_Missense_Mutation_p.F32C|PPARG_ENST00000397010.2_Missense_Mutation_p.F32C|PPARG_ENST00000397012.2_Missense_Mutation_p.F32C|PPARG_ENST00000397015.2_Missense_Mutation_p.F32C|PPARG_ENST00000309576.6_Missense_Mutation_p.F32C|PPARG_ENST00000287820.6_Missense_Mutation_p.F60C|PPARG_ENST00000539812.1_Missense_Mutation_p.F30C			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	60					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TCCCACTCCTTTGATATCAAG	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						111	472					0	0	0.003610	0	0
GART	2618	broad.mit.edu	37	21	34903147	34903147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:34903147G>A	ENST00000381831.3	-	7	904	c.641C>T	c.(640-642)cCa>cTa	p.P214L	GART_ENST00000381839.3_Missense_Mutation_p.P214L|GART_ENST00000381815.4_Missense_Mutation_p.P214L|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Missense_Mutation_p.P214L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	214	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTCCTGTGCTGGGGGCATGGG	0.463000													6	36					0	0	0.003080	0	0
SALL1	6299	broad.mit.edu	37	16	51171346	51171346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:51171346G>A	ENST00000440970.1	-	3	3792	c.3361C>T	c.(3361-3363)Cag>Tag	p.Q1121*	SALL1_ENST00000541611.1_Nonsense_Mutation_p.Q41*|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q1218*	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1218					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAATCCTTCTGGAACATTTCT	0.567000													11	25					0	0	0.008291	0	0
MEP1B	4225	broad.mit.edu	37	18	29793248	29793248	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:29793248G>A	ENST00000269202.6	+	11	1352	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	MEP1B_ENST00000581447.1_Silent_p.R435R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	435	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCATATAAGGAATTTCACAC	0.433000													7	30					0	0	0.003080	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766131	19766131	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:19766131T>A	ENST00000357324.6	-	11	1554	c.1528A>T	c.(1528-1530)Aag>Tag	p.K510*	ATP13A1_ENST00000291503.5_Nonsense_Mutation_p.K392*|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	510					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACAGAGCTTGGCCAGGGCG	0.632000													7	36					0	0	0.003080	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553189	140553189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140553189G>A	ENST00000231137.3	+	1	947	c.773G>A	c.(772-774)gGt>gAt	p.G258D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		258	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCCGTTGGTTCCATGGTT	0.498000													9	59					0	0	0.006214	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447100	10447100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:10447100G>A	ENST00000326756.3	-	3	1291	c.853C>T	c.(853-855)Caa>Taa	p.Q285*		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACATCTTTTTGGTATTCCTTT	0.353000													26	128					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9010677	9010677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9010677C>T	ENST00000397910.4	-	38	39187	c.38984G>A	c.(38983-38985)gGg>gAg	p.G12995E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12997					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGGAGTCCCTGAGGTCCC	0.522000													8	38					0	0	0.004482	0	0
OTOF	9381	broad.mit.edu	37	2	26680944	26680944	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:26680944G>A	ENST00000403946.3	-	46	6064	c.5958C>T	c.(5956-5958)ctC>ctT	p.L1986L	OTOF_ENST00000272371.2_3'UTR|OTOF_ENST00000402415.3_3'UTR|OTOF_ENST00000339598.3_Silent_p.L1219L|OTOF_ENST00000338581.6_3'UTR			Q9HC10	OTOF_HUMAN	otoferlin	1986					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGCCAGGGAGGCTGTAGA	0.597000													16	80					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179584176	179584176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179584176G>A	ENST00000589042.1	-	83	24165	c.23941C>T	c.(23941-23943)Cgg>Tgg	p.R7981W	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7664W|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R6737W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7664	Ig-like 62.						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)			GGCACAATCCGATCTATGTGG	0.478000													10	65					0	0	0.008291	0	0
ZNF221	7638	broad.mit.edu	37	19	44471067	44471067	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:44471067C>T	ENST00000251269.5	+	6	1741	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V	ZNF221_ENST00000592350.1_Silent_p.V471V|ZNF221_ENST00000587682.1_Silent_p.V471V	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ACCAGAGGGTCCACACGGGTG	0.473000													7	39					0	0	0.003080	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492039	72492039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:72492039C>T	ENST00000373208.1	+	7	1141	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P378S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	378	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGTCACCCCCTGAGGAG	0.592000													7	26					0	0	0.003080	0	0
ITGA7	3679	broad.mit.edu	37	12	56090778	56090778	+	Missense_Mutation	SNP	G	G	A	rs146411608	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:56090778G>A	ENST00000257880.7	-	13	1993	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	ITGA7_ENST00000257879.6_Missense_Mutation_p.R548C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R552C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R552C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R542C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R455C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R548C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R592C			Q13683	ITA7_HUMAN	integrin, alpha 7	592					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCAGGTTACGGCTCAGGAAC	0.617000													8	40					0	0	0.003080	0	0
RGPD4	285190	broad.mit.edu	37	2	108487685	108487685	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:108487685G>A	ENST00000408999.3	+	20	3302	c.3225G>A	c.(3223-3225)agG>agA	p.R1075R	RGPD4_ENST00000354986.4_Silent_p.R1075R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1075	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGAGGTAAGGCAGTGGAAAG	0.383000													66	369					0	0	0.003610	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204876	5204876	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:5204876G>A	ENST00000334314.3	-	2	277	c.201C>T	c.(199-201)gcC>gcT	p.A67A						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCTCCCAAATGGCCTGTCCAA	0.478000													19	113					0	0	0.001523	0	0
ARID2	196528	broad.mit.edu	37	12	46230613	46230613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:46230613C>T	ENST00000334344.6	+	8	1034	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q139*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	288					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCGGGTACTTCAGATTGCAGT	0.418000			"""N, S, F"""		hepatocellular carcinoma								14	60					0	0	0.002450	0	0
SRRM2	23524	broad.mit.edu	37	16	2814690	2814690	+	Silent	SNP	C	C	T	rs78949014	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2814690C>T	ENST00000301740.8	+	11	4710	c.4161C>T	c.(4159-4161)tcC>tcT	p.S1387S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1387	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGAGTTATCCCCAGATGCAG	0.448000													50	228					0	0	0.003610	0	0
GPR39	2863	broad.mit.edu	37	2	133402923	133402923	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:133402923A>G	ENST00000329321.3	+	2	1575	c.1106A>G	c.(1105-1107)aAc>aGc	p.N369S	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	369						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCACGCCAACCACGAGAAG	0.667000													18	61					0	0	0.004990	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298082	120298082	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120298082G>A	ENST00000369406.3	-	6	1204	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	HMGCS2_ENST00000544913.2_Silent_p.S343S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	385					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACCCGTACAGGGATGAGGTGT	0.562000													86	445					0	0	0.003610	0	0
DACH1	1602	broad.mit.edu	37	13	72255957	72255957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:72255957G>A	ENST00000305425.4	-	2	1362	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	DACH1_ENST00000313174.7_Missense_Mutation_p.L314F|DACH1_ENST00000359684.2_Missense_Mutation_p.L314F|DACH1_ENST00000354591.4_Missense_Mutation_p.L314F	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	312	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAGACATGAGACCAGGGACA	0.428000													16	61					0	0	0.007413	0	0
RNF4	6047	broad.mit.edu	37	4	2514858	2514858	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:2514858G>A	ENST00000511600.1	+	7	1938	c.423_splice	c.e7+1	p.E141_splice	RNF4_ENST00000541204.1_Splice_Site_p.E141_splice|RNF4_ENST00000314289.8_Splice_Site_p.E141_splice|RNF4_ENST00000511859.1_Splice_Site_p.R88_splice|RNF4_ENST00000506706.1_Splice_Site_p.E141_splice			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				GATACTCAGAGGTAAGTAAAC	0.468000													47	168					0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124646598	124646598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:124646598G>A	ENST00000311075.3	-	2	330	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	98	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTAGGTATAGGAATTGTGGAG	0.428000													53	188					0	0	0.003610	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936832	4936832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:4936832C>T	ENST00000512825.2	-	3	2363	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	SLC52A1_ENST00000424747.1_Missense_Mutation_p.V318M|SLC52A1_ENST00000254853.5_Missense_Mutation_p.V318M			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	318						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGCCCAGCACCACAGCCAGG	0.622000													6	46					0	0	0.001984	0	0
HSH2D	84941	broad.mit.edu	37	19	16268269	16268269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:16268269G>A	ENST00000593154.2	+	8	1255	c.724G>A	c.(724-726)Gat>Aat	p.D242N	HSH2D_ENST00000588246.1_Missense_Mutation_p.D242N|HSH2D_ENST00000397372.4_Silent_p.V151V|HSH2D_ENST00000253680.6_Silent_p.V241V	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	305						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GATCCACGGTGATCTCAGGCC	0.597000													17	51					0	0	0.007413	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065339	13065339	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:13065339C>T	ENST00000316939.1	-	2	375	c.350_splice	c.e2-1	p.E118_splice		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	118					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						ATGTGCTGCTCCCTGCAGGGG	0.617000													9	29					0	0	0.004482	0	0
KMT2B	9757	broad.mit.edu	37	19	36227864	36227864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:36227864G>A	ENST00000420124.1	+	32	7349	c.7349G>A	c.(7348-7350)cGa>cAa	p.R2450Q	WBP7_ENST00000222270.7_Missense_Mutation_p.R2450Q|KMT2B_ENST00000607650.1_RNA																							GGGCATGCCCGACTCAGACAT	0.607000													6	16					0	0	0.001984	0	0
NRXN3	9369	broad.mit.edu	37	14	79270138	79270138	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:79270138G>A	ENST00000554719.1	+	6	1592	c.1101G>A	c.(1099-1101)ggG>ggA	p.G367G	NRXN3_ENST00000335750.5_Silent_p.G367G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	145					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCTGGATGGGGGGCGTGTCA	0.532000													4	37					0	0	0.000602	0	0
PTPRD	5789	broad.mit.edu	37	9	8518269	8518269	+	Silent	SNP	C	C	T	rs137892356		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:8518269C>T	ENST00000381196.4	-	18	1665	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	PTPRD_ENST00000486161.1_Silent_p.A374A|PTPRD_ENST00000356435.5_Silent_p.A374A|PTPRD_ENST00000358503.5_Silent_p.A361A|PTPRD_ENST00000355233.5_Silent_p.A374A|PTPRD_ENST00000397606.3_Silent_p.A364A|PTPRD_ENST00000397617.3_Silent_p.A364A|PTPRD_ENST00000397611.3_Silent_p.A371A|PTPRD_ENST00000540109.1_Silent_p.A374A|PTPRD_ENST00000360074.4_Silent_p.A361A|PTPRD_ENST00000537002.1_Silent_p.A371A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	374	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCGTGTGGTCGCCACCCCAT	0.483000										TSP Lung(15;0.13)			18	106					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9065879	9065879	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9065879G>A	ENST00000397910.4	-	3	21770	c.21567C>T	c.(21565-21567)ccC>ccT	p.P7189P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7191	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGAGCTGGGAATCTCCA	0.502000													30	113					0	0	0.007291	0	0
F2RL1	2150	broad.mit.edu	37	5	76129513	76129513	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:76129513T>A	ENST00000296677.4	+	2	1287	c.1081T>A	c.(1081-1083)Tgc>Agc	p.C361S		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	361					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGCTCTCCTTTGCCGAAGTGT	0.458000													90	419					0	0	0.003610	0	0
PLXNA1	5361	broad.mit.edu	37	3	126749212	126749212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:126749212C>T	ENST00000251772.4	+	28	5188	c.5119C>T	c.(5119-5121)Cag>Tag	p.Q1707*	PLXNA1_ENST00000393409.2_Nonsense_Mutation_p.Q1730*			Q9UIW2	PLXA1_HUMAN	plexin A1	1730					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGACAAGCACCAGATCCACGA	0.622000													15	89					0	0	0.002450	0	0
PAFAH2	5051	broad.mit.edu	37	1	26317280	26317280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:26317280G>A	ENST00000374282.3	-	2	207	c.28C>T	c.(28-30)Cca>Tca	p.P10S	PAFAH2_ENST00000374284.1_Missense_Mutation_p.P10S|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	10					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGGTGGAAAGCCCACA	0.557000													6	34					0	0	0.001168	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131475	35131475	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:35131475C>T	ENST00000436258.1	-	0	1894																											TCTGCATCTTCGTAAAGTGGA	0.433000													16	67					0	0	0.004990	0	0
SAMD9	54809	broad.mit.edu	37	7	92731372	92731372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:92731372G>A	ENST00000379958.2	-	3	4308	c.4039C>T	c.(4039-4041)Ctc>Ttc	p.L1347F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1347						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCCAAGAGCCCAGAAAAC	0.368000													19	108					0	0	0.006122	0	0
TENM3	55714	broad.mit.edu	37	4	183664448	183664448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183664448G>A	ENST00000511685.1	+	19	3628	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1169S					teneurin transmembrane protein 3																		TCAAGCTGATGGTAACAAGTT	0.537000													5	31					0	0	0.000602	0	0
GUCA1B	2979	broad.mit.edu	37	6	42152572	42152572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:42152572C>T	ENST00000230361.3	-	4	679	c.584G>A	c.(583-585)cGg>cAg	p.R195Q		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	195					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GGCACTTTTCCGTCTCTGCTG	0.582000													12	78					0	0	0.001368	0	0
ABCA13	154664	broad.mit.edu	37	7	48550793	48550793	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:48550793C>T	ENST00000435803.1	+	51	13662	c.13638C>T	c.(13636-13638)ttC>ttT	p.F4546F	ABCA13_ENST00000544596.1_Silent_p.F276F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4546					transport	integral to membrane	ATP binding|ATPase activity	p.F4546L(1)|p.F4491L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCACTTTTCGGGTATGTGA	0.483000													9	45					0	0	0.004482	0	0
MYBPC1	4604	broad.mit.edu	37	12	102041880	102041880	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:102041880G>C	ENST00000549145.1	+	13	1212	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	MYBPC1_ENST00000547405.1_Missense_Mutation_p.R332T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R344T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R358T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R346T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R358T|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R383T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R339T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R345T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R358T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R383T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R358T|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R358T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R358T|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R259T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	358	Ig-like C2-type 3.			N -> Q (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTGGGGAGAGAGTGGAATTA	0.363000													12	52					0	0	0.002450	0	0
BACH2	60468	broad.mit.edu	37	6	90718397	90718397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:90718397G>A	ENST00000257749.4	-	6	874	c.167C>T	c.(166-168)gCc>gTc	p.A56V	BACH2_ENST00000537989.1_Missense_Mutation_p.A56V|BACH2_ENST00000343122.3_Missense_Mutation_p.A56V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	56	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGCATGCGGCCAGCACAGC	0.512000													12	78					0	0	0.001368	0	0
SCN9A	6335	broad.mit.edu	37	2	167056225	167056225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:167056225G>A	ENST00000303354.6	-	27	5267	c.4927C>T	c.(4927-4929)Cct>Tct	p.P1643S	SCN9A_ENST00000375387.4_Missense_Mutation_p.P1643S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1631S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1642S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1642						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACAACGCAGGAAGGGACATC	0.488000													13	95					0	0	0.001855	0	0
FAM135A	57579	broad.mit.edu	37	6	71269565	71269565	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:71269565G>C	ENST00000418814.2	+	22	5103	c.4489G>C	c.(4489-4491)Gat>Cat	p.D1497H	FAM135A_ENST00000505769.1_Missense_Mutation_p.D1077H|FAM135A_ENST00000370479.3_Missense_Mutation_p.D1284H|FAM135A_ENST00000361499.3_Missense_Mutation_p.D1301H|FAM135A_ENST00000457062.2_Missense_Mutation_p.D1284H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1497										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGCTGTTCTTGATTCGGAAAT	0.378000													8	26					0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609707	96609707	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96609707C>T	ENST00000371321.3	+	8	1265	c.1183C>T	c.(1183-1185)Cta>Tta	p.L395L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	395					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACTTCTGTGCTACATGACAA	0.398000													19	86					0	0	0.007413	0	0
MYOF	26509	broad.mit.edu	37	10	95107489	95107489	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:95107489G>A	ENST00000371501.4	-	37	4256	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	MYOF_ENST00000358334.5_Silent_p.I1365I|MYOF_ENST00000359263.4_Silent_p.I1378I|MYOF_ENST00000371502.4_Silent_p.I1378I			Q9NZM1	MYOF_HUMAN	myoferlin	1378					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCTGTGGTCGATGACCTTGA	0.572000													15	37					0	0	0.003163	0	0
GRID2	2895	broad.mit.edu	37	4	94377028	94377028	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:94377028G>A	ENST00000282020.4	+	11	2019	c.1761G>A	c.(1759-1761)ttG>ttA	p.L587L	GRID2_ENST00000510992.1_Silent_p.L492L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	587					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTACCTCTTGAACTGGCTTA	0.453000													26	85					0	0	0.006320	0	0
LPPR1	54886	broad.mit.edu	37	9	104079760	104079760	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:104079760G>A	ENST00000374874.3	+	7	1366	c.927G>A	c.(925-927)ctG>ctA	p.L309L	LPPR1_ENST00000395056.2_Silent_p.L309L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		309						integral to membrane	catalytic activity										AAAGCCCTCTGGAAACCTTAA	0.458000													29	126					0	0	0.008361	0	0
INPPL1	3636	broad.mit.edu	37	11	71946430	71946430	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71946430A>T	ENST00000298229.2	+	23	2798	c.2594A>T	c.(2593-2595)aAt>aTt	p.N865I	INPPL1_ENST00000541756.1_Missense_Mutation_p.N623I|INPPL1_ENST00000538751.1_Missense_Mutation_p.N623I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	865					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGACAGGCAATATCAGAGGC	0.617000													35	217					0	0	0.006230	0	0
PCED1B	91523	broad.mit.edu	37	12	47629132	47629132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:47629132C>T	ENST00000546455.1	+	4	1017	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R96C					PC-esterase domain containing 1B																		CTTCCTCACCCGCGTGTACTC	0.597000													20	128					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179612023	179612023	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179612023A>G	ENST00000360870.5	-	46	15326	c.15104T>C	c.(15103-15105)gTt>gCt	p.V5035A	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1139							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)			TCTTTCAGCAACTTCCCCTAA	0.438000													9	43					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179490104C>T	ENST00000589042.1	-	241	44668	c.44444G>A	c.(44443-44445)gGa>gAa	p.G14815E	TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13174E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13174	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353000													26	133					0	0	0.007291	0	0
MGAM	8972	broad.mit.edu	37	7	141758047	141758047	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141758047C>T	ENST00000475668.2	+	31	3792	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	MGAM_ENST00000549489.2_Silent_p.F1246F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1246	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTGGGGTTCCAGCTGTGTC	0.473000													59	271					0	0	0.003610	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240021	5240021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:5240021G>A	ENST00000274181.7	+	16	2644	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	836	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCAACCAACGAGACACTGAT	0.493000													20	90					0	0	0.002299	0	0
USP32	84669	broad.mit.edu	37	17	58284461	58284461	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:58284461G>A	ENST00000300896.4	-	25	3152	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	USP32_ENST00000592339.1_Silent_p.L656L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	986					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CACTCACTGAGAGTCGTACTT	0.408000													6	17					0	0	0.004482	0	0
LY6K	54742	broad.mit.edu	37	8	143784711	143784711	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:143784711G>T	ENST00000292430.6	+	3	837	c.420G>T	c.(418-420)atG>atT	p.M140I	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.M198I			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	140	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGAGCATGGGTGAGAGCT	0.547000													14	76					2.31682e-05	2.6481e-05	0.003163	1	0
TRIM46	80128	broad.mit.edu	37	1	155156563	155156563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:155156563C>T	ENST00000368382.1	+	10	2245	c.2108C>T	c.(2107-2109)cCt>cTt	p.P703L	TRIM46_ENST00000334634.4_Missense_Mutation_p.P726L|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.P600L|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	726	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGTGTGCCCTGCCTTTTGC	0.617000													4	35					0	0	0.000248	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256508	32256508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:32256508C>T	ENST00000360482.2	-	16	3476	c.3347G>A	c.(3346-3348)gGc>gAc	p.G1116D	SPOCD1_ENST00000257100.3_Missense_Mutation_p.G596D|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G1103D|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1116					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGCGCAAGCCTGGCTCTGG	0.652000													4	10					0	0	0.000248	0	0
RIBC2	26150	broad.mit.edu	37	22	45813720	45813720	+	Silent	SNP	T	T	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:45813720T>C	ENST00000342894.3	+	3	645	c.231T>C	c.(229-231)gaT>gaC	p.D77D	RIBC2_ENST00000538017.1_Silent_p.D145D			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	77										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGGAGAGGATTTAAACTTCC	0.448000													5	30					0	0	0.001168	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372117	81372117	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:81372117G>A	ENST00000398636.3	+	4	360	c.222G>A	c.(220-222)ggG>ggA	p.G74G	SFTPA1_ENST00000372308.3_Silent_p.G74G|SFTPA1_ENST00000428376.2_Silent_p.G74G|SFTPA1_ENST00000372313.5_Silent_p.G15G|SFTPA1_ENST00000419470.2_Silent_p.G89G	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	74	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GAAATGATGGGCTGCCTGGAG	0.607000													46	171					0	0	0.003610	0	0
SCG5	6447	broad.mit.edu	37	15	32935926	32935926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:32935926C>T	ENST00000300175.4	+	2	243	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	SCG5_ENST00000494364.1_Missense_Mutation_p.H45Y|SCG5_ENST00000497208.1_Missense_Mutation_p.H45Y|SCG5_ENST00000413748.2_Missense_Mutation_p.H45Y	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	45					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAGGCTGCTTCATGGTGTTAT	0.547000													12	78					0	0	0.000978	0	0
MACF1	23499	broad.mit.edu	37	1	39824860	39824860	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:39824860C>T	ENST00000564288.1	+	47	12945	c.12168C>T	c.(12166-12168)ctC>ctT	p.L4056L	MACF1_ENST00000361689.2_Silent_p.L1994L|MACF1_ENST00000372915.3_Silent_p.L4061L|MACF1_ENST00000289893.4_Silent_p.L2496L|MACF1_ENST00000539005.1_Silent_p.L1994L|MACF1_ENST00000545844.1_Silent_p.L1994L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Silent_p.L4093L|MACF1_ENST00000317713.7_Silent_p.L1994L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4061					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			TGGAAAAACTCCAAAAAGTAG	0.408000													11	35					0	0	0.001368	0	0
CSMD1	64478	broad.mit.edu	37	8	3046514	3046514	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3046514G>A	ENST00000602557.1	-	36	5976	c.5421C>T	c.(5419-5421)ttC>ttT	p.F1807F	CSMD1_ENST00000539096.1_Silent_p.F1806F|CSMD1_ENST00000400186.3_Silent_p.F1807F|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.F1807F|CSMD1_ENST00000537824.1_Silent_p.F1806F|CSMD1_ENST00000520002.1_Silent_p.F1807F|CSMD1_ENST00000542608.1_Silent_p.F1806F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1807	CUB 11.					integral to membrane		p.F1535F(1)|p.F1806F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGTTGAGTGAAATTGCCAC	0.458000													6	19					0	0	0.003080	0	0
A2ML1	144568	broad.mit.edu	37	12	9004870	9004870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:9004870C>T	ENST00000299698.7	+	20	2708	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	A2ML1_ENST00000539547.1_Missense_Mutation_p.S352F	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	687						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCAGACCTCCAGTTGTCTC	0.493000													39	154					0	0	0.006230	0	0
RNF17	56163	broad.mit.edu	37	13	25370412	25370412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:25370412C>T	ENST00000255324.5	+	11	1430	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	RNF17_ENST00000255325.5_Missense_Mutation_p.P461S|RNF17_ENST00000381921.1_Missense_Mutation_p.P460S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	460					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACACCTTGATCCTTCAGACAT	0.328000													16	62					0	0	0.003163	0	0
FBXO24	26261	broad.mit.edu	37	7	100187601	100187601	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100187601T>G	ENST00000241071.6	+	2	363	c.39_splice	c.e2-1	p.V14_splice	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Splice_Site_p.V14_splice|FBXO24_ENST00000360609.2_Splice_Site_p.V14_splice|FBXO24_ENST00000468962.1_Splice_Site_p.V2_splice|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Splice_Site_p.V52_splice	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	14						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGGGTAGGTGAAGAGAAGC	0.557000													17	89					0	0	0.002780	0	0
ADA	100	broad.mit.edu	37	20	43251572	43251572	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:43251572C>T	ENST00000372874.4	-	8	813		c.e8-1		PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Splice_Site|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase						adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTCCACAGCCTGTAGAGAAG	0.582000									Adenosine Deaminase Deficiency				30	100					0	0	0.007291	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183957	48183957	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:48183957C>T	ENST00000396720.3	+	6	1724	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	510							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GACAGCTCATCGCGAACCCCA	0.726000													19	57					0	0	0.007413	0	0
OR14K1	343170	broad.mit.edu	37	1	247902762	247902762	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:247902762C>T	ENST00000283225.2	+	1	846	c.846C>T	c.(844-846)acC>acT	p.T282T	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CACCTCCAACCTTGAACCCTG	0.433000													9	29					0	0	0.006214	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635657	141635657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141635657C>T	ENST00000546910.1	-	5	498	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CLEC5A_ENST00000551012.2_Missense_Mutation_p.G78E|CLEC5A_ENST00000438351.1_Missense_Mutation_p.G78E|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	101	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGATCCTTTTCCTTTGCAAAA	0.443000													14	74					0	0	0.001855	0	0
ITGA3	3675	broad.mit.edu	37	17	48141897	48141897	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:48141897C>A	ENST00000544892.1	+	0	384				ITGA3_ENST00000320031.8_Missense_Mutation_p.P114T|ITGA3_ENST00000007722.7_Missense_Mutation_p.P114T			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACAGATGACCCTGGCCATCA	0.587000													7	30					5.4927e-09	6.31328e-09	0.004482	1	0
OAZ3	51686	broad.mit.edu	37	1	151740538	151740538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:151740538G>A	ENST00000321531.5	+	4	340	c.173G>A	c.(172-174)gGg>gAg	p.G58E	OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000479764.1_Intron|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.G58E|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.G71E			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	55					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TTCCAGGCTGGGAACTTGACG	0.547000													10	57					0	0	0.006214	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092868	151092868	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151092868G>A	ENST00000370340.3	+	3	999	c.732G>A	c.(730-732)agG>agA	p.R244R	MAGEA4_ENST00000370337.4_Silent_p.R244R|MAGEA4_ENST00000393920.1_Silent_p.R244R|MAGEA4_ENST00000393921.1_Silent_p.R244R|MAGEA4_ENST00000370335.1_Silent_p.R244R|MAGEA4_ENST00000276344.2_Silent_p.R244R|MAGEA4_ENST00000360243.2_Silent_p.R244R			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	244	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCCCAGGAAACTGCTCA	0.592000													22	43					0	0	0.002299	0	0
KRT35	3886	broad.mit.edu	37	17	39635247	39635247	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39635247C>T	ENST00000246639.2	-	4	754	c.621_splice	c.e4-1	p.E208_splice	KRT35_ENST00000393989.1_Splice_Site_p.E238_splice			Q92764	KRT35_HUMAN	keratin 35	238	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GAGTTCACTTCCTATAGCACA	0.557000													7	38					0	0	0.001984	0	0
GLDN	342035	broad.mit.edu	37	15	51696536	51696536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:51696536G>A	ENST00000335449.6	+	10	1297	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	GLDN_ENST00000396399.2_Missense_Mutation_p.R290Q	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	414	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATTTTGATCGAAAATACCTT	0.373000													16	101					0	0	0.004990	0	0
CUTC	51076	broad.mit.edu	37	10	101514321	101514321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:101514321C>T	ENST00000370476.5	+	8	766	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	213					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	p.L213I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ACAAAGGATCCTTGAGGGTTC	0.353000													56	200					0	0	0.003610	0	0
TRIO	7204	broad.mit.edu	37	5	14304662	14304662	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:14304662C>T	ENST00000344204.4	+	8	1485	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	TRIO_ENST00000537187.1_Silent_p.H487H|TRIO_ENST00000509967.2_Silent_p.H438H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	487					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCATCACCACCAGGGAATAT	0.443000													14	74					0	0	0.002450	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518016	138518016	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:138518016G>A	ENST00000371763.1	-	4	409	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	52					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGACAGGAGCGAGCCAGTCTG	0.532000													12	42					0	0	0.001855	0	0
BLK	640	broad.mit.edu	37	8	11407735	11407735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:11407735G>A	ENST00000259089.4	+	6	1028	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	BLK_ENST00000529894.1_Missense_Mutation_p.G75S	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	146	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAACAAGGCCGGCTCCTTTCT	0.557000													23	76					0	0	0.006320	0	0
HDAC8	55869	broad.mit.edu	37	X	71549926	71549926	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:71549926C>T	ENST00000373573.3	-	11	1453	c.1111_splice	c.e11-1	p.G371_splice	HDAC8_ENST00000373589.4_Splice_Site_p.G280_splice|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Splice_Site_p.G176_splice	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	371					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTCAGATTCCCTGCAAACAG	0.393000													10	21					0	0	0.000978	0	0
ARAP2	116984	broad.mit.edu	37	4	36083903	36083903	+	Missense_Mutation	SNP	C	C	T	rs144848991		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:36083903C>T	ENST00000303965.4	-	30	5003	c.4514G>A	c.(4513-4515)gGa>gAa	p.G1505E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1505	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCGGTCAATCCCCAGCTGCA	0.308000													7	15					0	0	0.003080	0	0
ATP10B	23120	broad.mit.edu	37	5	160025933	160025933	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:160025933G>A	ENST00000327245.5	-	22	4254	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1136					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGCTGGAGAAACCACAGA	0.498000													14	60					0	0	0.001855	0	0
ZNF131	7690	broad.mit.edu	37	5	43161823	43161823	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:43161823T>G	ENST00000509634.1	+	5	1198	c.742T>G	c.(742-744)Tca>Gca	p.S248A	ZNF131_ENST00000509156.1_Missense_Mutation_p.S282A|ZNF131_ENST00000505606.2_Missense_Mutation_p.S248A|ZNF131_ENST00000306938.4_Missense_Mutation_p.S248A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.S282A			P52739	ZN131_HUMAN	zinc finger protein 131	282						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCACATGAAATCACACTCCAC	0.383000													7	25					0	0	0.003080	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600733	147600733	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:147600733C>T	ENST00000361727.3	+	14	2691	c.2175C>T	c.(2173-2175)atC>atT	p.I725I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	725	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCTGGAATCCAGAAATGTG	0.532000										HNSCC(39;0.1)			5	22					0	0	0.000602	0	0
ZNF786	136051	broad.mit.edu	37	7	148767963	148767963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:148767963G>A	ENST00000316286.9	-	3	1915	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	ZNF786_ENST00000451334.3_Missense_Mutation_p.A597V|ZNF786_ENST00000491431.1_Missense_Mutation_p.A634V			Q8N393	ZN786_HUMAN	zinc finger protein 786	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCATGTCGGCCTTCACGCG	0.612000													13	52					0	0	0.001368	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428491	170428491	+	Missense_Mutation	SNP	G	G	A	rs150394417		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170428491G>A	ENST00000453153.2	-	2	395	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.R17C	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	17					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCTCTTAGACGAAGCATATTT	0.363000													4	41					0	0	0.000248	0	0
MROH2B	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:41019062G>A	ENST00000399564.4	-	25	2950	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389W	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGCAGCCTCCGAATATTCTCC	0.463000													8	30					0	0	0.003080	0	0
PTPRF	5792	broad.mit.edu	37	1	44087635	44087635	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:44087635C>T	ENST00000359947.4	+	34	6025	c.5685C>T	c.(5683-5685)gcC>gcT	p.A1895A	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.A1886A|PTPRF_ENST00000372414.3_Silent_p.A1895A|PTPRF_ENST00000422171.2_Silent_p.A1254A|PTPRF_ENST00000438120.1_Silent_p.A1886A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1895	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGTGCGGCCCTGGAGTACC	0.652000													16	59					0	0	0.003163	0	0
POU2F2	5452	broad.mit.edu	37	19	42599534	42599534	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42599534G>A	ENST00000389341.5	-	11	1053	c.987C>T	c.(985-987)ttC>ttT	p.F329F	POU2F2_ENST00000560558.1_Silent_p.F290F|POU2F2_ENST00000533720.1_Silent_p.F329F|POU2F2_ENST00000529952.1_Silent_p.F345F|POU2F2_ENST00000560398.1_Silent_p.F351F|POU2F2_ENST00000529067.1_Silent_p.F329F|POU2F2_ENST00000342301.4_Silent_p.F345F|POU2F2_ENST00000526816.2_Silent_p.F345F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	345					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCCGGTTGCAGAACCAGACGC	0.622000													10	45					0	0	0.000978	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:168104646G>A	ENST00000409195.1	+	9	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2248L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2026L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2073					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTTCACTTGAAAAGCCAGG	0.368000													5	27					0	0	0.001168	0	0
NDEL1	81565	broad.mit.edu	37	17	8347657	8347657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:8347657C>T	ENST00000334527.7	+	2	265	c.68C>T	c.(67-69)tCc>tTc	p.S23F	NDEL1_ENST00000402554.3_Missense_Mutation_p.S23F|NDEL1_ENST00000299734.7_Missense_Mutation_p.S23F|NDEL1_ENST00000380025.4_Missense_Mutation_p.S23F|NDEL1_ENST00000585098.1_Missense_Mutation_p.S23F|NDEL1_ENST00000583066.1_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	23					chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						AAGGAACTTTCCTTGAAGTAT	0.353000													10	32					0	0	0.006214	0	0
F5	2153	broad.mit.edu	37	1	169510174	169510174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:169510174G>A	ENST00000367796.3	-	13	4370	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F	F5_ENST00000367797.3_Missense_Mutation_p.S1385F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1385	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGGTCTGGGGAAAGGTTTGT	0.527000													33	131					0	0	0.002445	0	0
MECOM	2122	broad.mit.edu	37	3	169099049	169099049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:169099049C>T	ENST00000494292.1	-	2	398	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	101							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACCTACTTCGATCTTCCTT	0.448000													16	86					0	0	0.004007	0	0
KCNN3	3782	broad.mit.edu	37	1	154685954	154685954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:154685954C>T	ENST00000271915.3	-	7	2200	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	KCNN3_ENST00000361147.4_Missense_Mutation_p.V324M|KCNN3_ENST00000358505.2_Missense_Mutation_p.V316M	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	634	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GAAAGGTCCACCAGAGTGTTG	0.547000													11	54					0	0	0.001368	0	0
AADAC	13	broad.mit.edu	37	3	151545928	151545928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:151545928C>T	ENST00000232892.6	+	5	1294	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	390					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACTTATAAATCAGTATATTGA	0.323000													5	48					0	0	0.000602	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	G	A	rs146757937		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140552966G>A	ENST00000231137.3	+	1	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000													10	39					0	0	0.006214	0	0
MYO3A	53904	broad.mit.edu	37	10	26491913	26491913	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:26491913T>A	ENST00000265944.5	+	34	4773	c.4607T>A	c.(4606-4608)tTg>tAg	p.L1536*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1536					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						TTATTAGATTTGGAAGATTTC	0.343000													4	23					0	0	0.000248	0	0
EPO	2056	broad.mit.edu	37	7	100320727	100320727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100320727G>A	ENST00000252723.2	+	5	734	c.553G>A	c.(553-555)Ggg>Agg	p.G185R		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	185					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCTGTACACAGGGGAGGCCTG	0.587000													13	94					0	0	0.001368	0	0
KIF20B	9585	broad.mit.edu	37	10	91474907	91474907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:91474907C>T	ENST00000416354.1	+	8	980	c.908C>T	c.(907-909)tCc>tTc	p.S303F	KIF20B_ENST00000371728.3_Missense_Mutation_p.S303F|KIF20B_ENST00000260753.4_Missense_Mutation_p.S303F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S303F			Q96Q89	KI20B_HUMAN	kinesin family member 20B	303	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTGCGCCTTTCCCAAGACGTA	0.328000													7	33					0	0	0.003080	0	0
TMEM174	134288	broad.mit.edu	37	5	72469697	72469697	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:72469697G>A	ENST00000296776.5	+	1	675		c.e1+1		TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174							integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAATCACAGGTATGGCGTGT	0.488000													15	74					0	0	0.004990	0	0
NWD1	284434	broad.mit.edu	37	19	16902353	16902353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:16902353G>A	ENST00000524140.2	+	14	3551	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	NWD1_ENST00000379808.3_Missense_Mutation_p.E1045K|NWD1_ENST00000339803.6_Missense_Mutation_p.E910K|NWD1_ENST00000552788.1_Missense_Mutation_p.E1045K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1045K|NWD1_ENST00000523826.1_Missense_Mutation_p.E839K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1045							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGCATCAAAGAAGAAACACC	0.507000													11	67					0	0	0.008291	0	0
HTR1E	3354	broad.mit.edu	37	6	87725844	87725844	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:87725844G>A	ENST00000305344.4	+	2	1495	c.792G>A	c.(790-792)agG>agA	p.R264R	HTR1E_ENST00000369584.1_Silent_p.R264R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	264					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCTCCATCAGGATCCCCCCCT	0.502000													12	112					0	0	0.001368	0	0
LTN1	26046	broad.mit.edu	37	21	30357190	30357190	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:30357190G>A	ENST00000361371.4	-	4	549	c.399C>T	c.(397-399)atC>atT	p.I133I	LTN1_ENST00000389194.2_Silent_p.I179I|LTN1_ENST00000389195.2_Silent_p.I179I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	133				I -> T (in Ref. 5; BAA91976).			ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTACTTTAAGGATAAGTTTTT	0.373000													9	32					0	0	0.006214	0	0
FUT9	10690	broad.mit.edu	37	6	96651190	96651190	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:96651190C>T	ENST00000302103.5	+	3	485	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	53					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGAAAAACTTCTTTTCCACCA	0.418000													11	53					0	0	0.000978	0	0
TRPC6	7225	broad.mit.edu	37	11	101347072	101347072	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:101347072C>T	ENST00000344327.3	-	6	2128	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Silent_p.T452T|TRPC6_ENST00000360497.4_Silent_p.T513T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	568					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.T568T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGTTACTTTCGTCAAGTCCT	0.363000													7	24					0	0	0.003080	0	0
XRN1	54464	broad.mit.edu	37	3	142137708	142137708	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:142137708G>A	ENST00000264951.4	-	11	1306	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	XRN1_ENST00000463916.1_Silent_p.L397L|XRN1_ENST00000544157.1_Silent_p.L187L|XRN1_ENST00000392981.2_Silent_p.L397L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	397					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTCCAACACAGAGAATTTTCC	0.338000													7	48					0	0	0.008291	0	0
FSTL5	56884	broad.mit.edu	37	4	162459348	162459348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:162459348G>A	ENST00000306100.5	-	10	1718	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F	FSTL5_ENST00000536695.1_Missense_Mutation_p.L427F|FSTL5_ENST00000379164.4_Missense_Mutation_p.L427F|FSTL5_ENST00000427802.2_Missense_Mutation_p.L427F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	428						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCACAAAAAGAGAAGAGATG	0.408000													28	113					0	0	0.002096	0	0
CD55	1604	broad.mit.edu	37	1	207499049	207499049	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:207499049C>T	ENST00000367064.3	+	4	819	c.561C>T	c.(559-561)tcC>tcT	p.S187S	CD55_ENST00000391921.4_Silent_p.S123S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_Silent_p.S187S|CD55_ENST00000391920.4_Silent_p.S187S|CD55_ENST00000367065.5_Silent_p.S187S|CD55_ENST00000367063.2_Silent_p.S187S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.S187S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	187	Sushi 3.			S -> T (in Ref. 9; AAB48622).	complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CAACCATCTCCTTCTCATGTA	0.373000													10	41					0	0	0.000978	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535171	190535171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:190535171C>T	ENST00000260952.4	+	6	2064	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	ASNSD1_ENST00000607062.1_Missense_Mutation_p.P70S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTTAGATTTCCTTTCCTGGA	0.299000													7	44					0	0	0.004482	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966983	39966983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:39966983G>A	ENST00000402142.3	+	1	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	CACNA1I_ENST00000336649.4_Splice_Site|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V76M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V76M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V76M|CACNA1I_ENST00000400164.3_Splice_Site	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	76					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATCAAGATGGTGTGCAACCC	0.632000													20	74					0	0	0.001882	0	0
MAK16	84549	broad.mit.edu	37	8	33342733	33342733	+	Silent	SNP	G	G	A	rs147879677		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:33342733G>A	ENST00000360128.6	+	1	466	c.9G>A	c.(7-9)tcG>tcA	p.S3S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	3						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCATGCAGTCGGATGATGTGA	0.597000													24	79					0	0	0.007291	0	0
CCDC42	146849	broad.mit.edu	37	17	8647889	8647889	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:8647889C>T	ENST00000293845.3	-	1	265	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CCDC42_ENST00000539522.2_Silent_p.E13E	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	13										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GCCGGAAGTACTCGGCCAGGT	0.607000													8	50					0	0	0.004482	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600151	141600151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:141600151G>A	ENST00000442267.2	-	5	870	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	266						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAGGGATCGATCTTGTTCA	0.423000													34	149					0	0	0.002836	0	0
SELPLG	6404	broad.mit.edu	37	12	109017969	109017969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:109017969C>T	ENST00000388962.3	-	2	274	c.115G>A	c.(115-117)Gac>Aac	p.D39N	SELPLG_ENST00000550948.1_Missense_Mutation_p.D39N|SELPLG_ENST00000228463.6_Missense_Mutation_p.D55N	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	39				Missing (in Ref. 3; BAC05283).	blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTCTCCGGTCCCGGGCAAGC	0.572000													13	53					0	0	0.003163	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205977	21205977	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:21205977A>C	ENST00000602326.1	-	18	2894	c.2311T>G	c.(2311-2313)Ttg>Gtg	p.L771V	EIF4G3_ENST00000537738.1_Missense_Mutation_p.L255V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L765V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.L369V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L765V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L485V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L771V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	765	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTGGTGTCAATTTATTTAAG	0.383000													42	171					0	0	0.008740	0	0
DSG3	1830	broad.mit.edu	37	18	29046576	29046576	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:29046576A>G	ENST00000257189.4	+	11	1578	c.1495A>G	c.(1495-1497)Aaa>Gaa	p.K499E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	499	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTCCTCGAAAAAGATGCAGT	0.423000													25	98					0	0	0.004656	0	0
PMPCA	23203	broad.mit.edu	37	9	139306961	139306961	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:139306961G>A	ENST00000371717.3	+	3	303	c.294G>A	c.(292-294)tcG>tcA	p.S98S	PMPCA_ENST00000399219.3_5'UTR|PMPCA_ENST00000371720.1_Silent_p.S98S	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	98					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		ATTCAGGATCGAGATATGAAG	0.299000													5	32					0	0	0.000602	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865133	42865133	+	Silent	SNP	A	A	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:42865133A>G	ENST00000431473.3	+	2	351	c.222A>G	c.(220-222)gtA>gtG	p.V74V		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	74					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTGTACGGGTACCCACACCCT	0.552000													6	21					0	0	0.001168	0	0
SSX9	280660	broad.mit.edu	37	X	48159203	48159203	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:48159203C>T	ENST00000376909.1	-	6	393		c.e6-1		SSX9_ENST00000407081.2_Splice_Site																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TGGGCATGATCTTTATAATGT	0.443000													49	98					0	0	0.003610	0	0
HHATL	57467	broad.mit.edu	37	3	42735179	42735179	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:42735179T>G	ENST00000441594.1	-	10	1439	c.1178A>C	c.(1177-1179)aAc>aCc	p.N393T	HHATL_ENST00000310417.5_Missense_Mutation_p.N393T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	393					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAAAGCAGTTAAGGAATGA	0.562000													9	23					0	0	0.008291	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:38760228G>A	ENST00000449082.2	-	20	3596	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1199					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCATCTCGAACACAAAGA	0.498000													20	45					0	0	0.008871	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719379	140719379	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140719379C>T	ENST00000394576.2	+	1	841	c.841C>T	c.(841-843)Cta>Tta	p.L281L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATATTTTCTAGAGAAAAG	0.468000													28	128					0	0	0.006320	0	0
PAK7	57144	broad.mit.edu	37	20	9520198	9520198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:9520198C>T	ENST00000378429.3	-	11	2617	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	PAK7_ENST00000378423.1_Missense_Mutation_p.A691T|PAK7_ENST00000353224.5_Missense_Mutation_p.A691T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	691	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGTTCCTGGGCTGTTGCTCTC	0.507000													29	156					0	0	0.006320	0	0
DHX16	8449	broad.mit.edu	37	6	30632959	30632959	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30632959G>A	ENST00000376442.3	-	6	1209	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	338					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CAAACTTCAGGGACGCTGCCC	0.642000													4	28					0	0	0.000602	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162559	33162559	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:33162559C>T	ENST00000510327.1	-	0	346																											TGAGCTGGTTCGTACCAAGAC	0.517000													8	26					0	0	0.004482	0	0
ANO7	50636	broad.mit.edu	37	2	242139598	242139598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:242139598C>T	ENST00000274979.8	+	6	777	c.674C>T	c.(673-675)cCc>cTc	p.P225L	ANO7_ENST00000402430.3_Missense_Mutation_p.P224L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	225						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACGTACCCCCCGAGTACTAC	0.622000													10	23					0	0	0.000978	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:31709534G>A	ENST00000382835.2	-	1	478	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament		p.F151F(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493000													38	151					0	0	0.006999	0	0
CLDN4	1364	broad.mit.edu	37	7	73245833	73245833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:73245833G>A	ENST00000435050.1	+	2	2982	c.302G>A	c.(301-303)gGg>gAg	p.G101E	CLDN4_ENST00000340958.2_Missense_Mutation_p.G101E|CLDN4_ENST00000431918.1_Missense_Mutation_p.G101E			O14493	CLD4_HUMAN	claudin 4	101					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TCCGTGGTGGGGGGCAAGTGT	0.642000													14	48					0	0	0.001855	0	0
SLC39A10	57181	broad.mit.edu	37	2	196571356	196571356	+	Silent	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:196571356C>T	ENST00000409086.3	+	4	1508	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SLC39A10_ENST00000359634.5_Silent_p.I411I|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	411					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTTGTGGTATCATTTCTATCA	0.333000													8	60					0	0	0.004482	0	0
SRRM2	23524	broad.mit.edu	37	16	2812052	2812052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2812052C>T	ENST00000301740.8	+	11	2072	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	508	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATTCTCGATCCCGATCTCCC	0.632000													6	53					0	0	0.004482	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099699	142099699	+	RNA	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142099699C>T	ENST00000390359.3	-	0	141																											ACATCCTGTCCTCTCTTTGCG	0.468000													9	50					0	0	0.006214	0	0
PSMD9	5715	broad.mit.edu	37	12	122337655	122337655	+	Silent	SNP	C	C	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:122337655C>A	ENST00000544724.1	+	1	2479	c.90C>A	c.(88-90)gcC>gcA	p.A30A	PSMD9_ENST00000340175.5_Silent_p.A119A|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000541212.1_Silent_p.A119A|PSMD9_ENST00000261817.2_Silent_p.A119A			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	119					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 insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACAAAGAGGCCATGAGCCGCA	0.642000													12	47					9.31168e-06	1.0653e-05	0.001855	1	0
TRHDE	29953	broad.mit.edu	37	12	73046155	73046155	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:73046155A>C	ENST00000261180.4	+	16	2690	c.2594A>C	c.(2593-2595)gAt>gCt	p.D865A		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	865					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						TCACTACTGGATGAGGATGTC	0.383000													8	60					0	0	0.003080	0	0
SOAT1	6646	broad.mit.edu	37	1	179304712	179304712	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:179304712G>A	ENST00000367619.3	+	4	392	c.249G>A	c.(247-249)aaG>aaA	p.K83K	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.K18K|SOAT1_ENST00000540564.1_Silent_p.K25K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	83					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGAAAAGTCAGCATCAT	0.358000													9	56					0	0	0.004482	0	0
CCDC65	85478	broad.mit.edu	37	12	49312592	49312592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:49312592G>A	ENST00000266984.5	+	6	1159	c.932G>A	c.(931-933)aGa>aAa	p.R311K	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.R311K			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	311										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAGGCCCAAAGAACTCAGGCC	0.468000													6	40					0	0	0.001984	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792183	11792183	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:11792183T>A	ENST00000356957.3	-	8	1095		c.e8-2		TXNDC11_ENST00000283033.5_Splice_Site			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11						cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGGAAGACCTGTGAAGGACA	0.547000													11	32					0	0	0.008291	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203659	140203659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140203659G>A	ENST00000529859.1	+	1	2299	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D767N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D767N	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAAACAGACCTCATGGC	0.542000													8	33					0	0	0.003080	0	0
MYO5B	4645	broad.mit.edu	37	18	47563340	47563340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:47563340G>A	ENST00000285039.7	-	4	634	c.335C>T	c.(334-336)cCt>cTt	p.P112L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	112	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGTTCATAAGGATTAATGGC	0.463000													9	21					0	0	0.006214	0	0
DOCK2	1794	broad.mit.edu	37	5	169122807	169122807	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:169122807G>A	ENST00000256935.8	+	10	924	c.843_splice	c.e10-1	p.D282_splice		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	282					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCCCCCAGGATCTTGGAAA	0.393000													12	70					0	0	0.001855	0	0
RFX6	222546	broad.mit.edu	37	6	117240361	117240361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:117240361G>A	ENST00000332958.2	+	11	1100	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	362					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATCCTTGGAAAACTTGCC	0.358000													10	36					0	0	0.006214	0	0
C3orf20	84077	broad.mit.edu	37	3	14725854	14725854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:14725854G>A	ENST00000253697.3	+	4	1042	c.590G>A	c.(589-591)gGg>gAg	p.G197E	C3orf20_ENST00000412910.1_Missense_Mutation_p.G75E|C3orf20_ENST00000435614.1_Missense_Mutation_p.G75E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	197						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCACAGCCGGGAGAAGTGGC	0.547000													18	53					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57766789	57766789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57766789G>A	ENST00000371030.2	+	1	715	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	239						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGATGCACGAAGGCGCCTC	0.701000													14	60					0	0	0.004007	0	0
C11orf48	79081	broad.mit.edu	37	11	62435109	62435109	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62435109T>A	ENST00000431002.2	-	2	2235	c.502A>T	c.(502-504)Aca>Tca	p.T168S	METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000532208.1_Missense_Mutation_p.T142S|C11orf48_ENST00000354588.3_Missense_Mutation_p.T142S			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	168										endometrium(1)|lung(5)|urinary_tract(1)	7						AGACATGCTGTGTCCTCAAGA	0.522000													109	233					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9082421	9082421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9082421C>T	ENST00000397910.4	-	1	9597	c.9394G>A	c.(9394-9396)Gaa>Aaa	p.E3132K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3133	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTGGGTTCTGTGGGAGAA	0.483000													33	113					0	0	0.002836	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222575	152222575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:152222575C>T	ENST00000243347.3	+	3	313	c.238C>T	c.(238-240)Cat>Tat	p.H80Y		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	80	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGCAGGATTTCATGTCTGTGC	0.423000													21	97					0	0	0.002780	0	0
AFF2	2334	broad.mit.edu	37	X	148037328	148037328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:148037328G>A	ENST00000370460.2	+	11	2232	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	AFF2_ENST00000370457.5_Missense_Mutation_p.E552K|AFF2_ENST00000286437.5_Missense_Mutation_p.E226K|AFF2_ENST00000342251.3_Missense_Mutation_p.E552K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	585					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACCCAAAGAAAGGCCTCT	0.483000													45	60					0	0	0.002222	0	0
ERC2	26059	broad.mit.edu	37	3	55922419	55922419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:55922419C>T	ENST00000288221.6	-	14	2817	c.2562G>A	c.(2560-2562)atG>atA	p.M854I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	854						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTACTCACTTCATCTCCAGGA	0.532000													23	108					0	0	0.002780	0	0
THSD7B	80731	broad.mit.edu	37	2	137872758	137872758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:137872758C>T	ENST00000409968.1	+	5	1442	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P391S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P422S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCAGGATCCCCACTGGCA	0.542000													8	32					0	0	0.004482	0	0
RNF216	54476	broad.mit.edu	37	7	5680976	5680976	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:5680976T>A	ENST00000425013.2	-	15	2244	c.2020A>T	c.(2020-2022)Aaa>Taa	p.K674*	RNF216_ENST00000389902.3_Nonsense_Mutation_p.K731*|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	674					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGTGGCATTTTCTAATGCGG	0.458000													7	40					0	0	0.003080	0	0
SHANK2	22941	broad.mit.edu	37	11	70333293	70333293	+	Silent	SNP	G	G	A	rs115697891	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:70333293G>A	ENST00000338508.4	-	32	3107	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I	SHANK2_ENST00000423696.2_Silent_p.I656I|SHANK2_ENST00000449833.2_Silent_p.I440I|SHANK2_ENST00000409161.1_Silent_p.I439I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	656					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTCCTTCACGATGATGGTCG	0.677000													56	97					0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635068	70635068	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:70635068G>A	ENST00000381269.2	-	2	825	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC8A3_ENST00000528359.1_Silent_p.F24F|SLC8A3_ENST00000356921.2_Silent_p.F24F|SLC8A3_ENST00000357887.3_Silent_p.F24F|SLC8A3_ENST00000534137.1_Silent_p.F24F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	24					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GACCATTCAGGAAGAGCACAA	0.552000													7	21					0	0	0.001984	0	0
GREB1	9687	broad.mit.edu	37	2	11752710	11752710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:11752710G>A	ENST00000381486.2	+	19	3396	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	GREB1_ENST00000396123.1_Missense_Mutation_p.M30I|GREB1_ENST00000234142.5_Missense_Mutation_p.M1032I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1032						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGTGGGATGGACCCGCATG	0.592000													16	54					0	0	0.006122	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805262	146805262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:146805262G>A	ENST00000361727.3	+	5	1090	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	192					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACTTTGATGGCCATGTTGT	0.348000										HNSCC(39;0.1)			9	40					0	0	0.008291	0	0
CARD14	79092	broad.mit.edu	37	17	78165120	78165120	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:78165120A>C	ENST00000573882.1	+	10	1625		c.e10-1		CARD14_ENST00000392434.2_Splice_Site|CARD14_ENST00000570421.1_Splice_Site|CARD14_ENST00000344227.2_Splice_Site|CARD14_ENST00000573754.1_Splice_Site			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTGGCCCACAGGCGTACTCC	0.632000													5	47					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9058282	9058282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9058282C>T	ENST00000397910.4	-	3	29367	c.29164G>A	c.(29164-29166)Gaa>Aaa	p.E9722K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9724	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTGTTTCCACAAAGCGA	0.488000													4	23					0	0	0.000248	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691111	129691111	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:129691111G>A	ENST00000358303.4	-	1	180	c.96C>T	c.(94-96)atC>atT	p.I32I	ZC3HC1_ENST00000481503.1_Silent_p.I32I|ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Silent_p.I32I	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	32					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCAGCTGCCGGATTTTCTGGG	0.592000													13	68					0	0	0.001855	0	0
RORB	6096	broad.mit.edu	37	9	77257548	77257548	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77257548T>G	ENST00000376896.2	+	4	1066	c.454T>G	c.(454-456)Tct>Gct	p.S152A	RORB_ENST00000396204.2_Missense_Mutation_p.S163A	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	163	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCTGCCCAAGTCTGAGGGTTA	0.517000													10	45					0	0	0.006214	0	0
OR51S1	119692	broad.mit.edu	37	11	4869932	4869932	+	Silent	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4869932G>A	ENST00000322101.2	-	1	582	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAGCAGGAATGGCAGGG	0.552000													47	103					0	0	0.003610	0	0
POSTN	10631	broad.mit.edu	37	13	38153461	38153461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:38153461G>A	ENST00000379747.4	-	13	1813	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y	POSTN_ENST00000541481.1_Missense_Mutation_p.H566Y|POSTN_ENST00000379743.4_Missense_Mutation_p.H566Y|POSTN_ENST00000379742.4_Missense_Mutation_p.H566Y|POSTN_ENST00000379749.4_Missense_Mutation_p.H566Y|POSTN_ENST00000541179.1_Missense_Mutation_p.H566Y	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	566	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGTGTCAGGTGATAAAGAATG	0.318000													7	59					0	0	0.006214	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:89448604_89448605insGG	ENST00000399794.2	-	3	1620_1621	c.905_906insCC	c.(904-906)ctcfs	p.L302fs	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.						nucleotide binding|RNA binding										CACCATAAGATGGCGGGGGCCC	0.475													7	210	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				12	52	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													3	5	---	---	---	---					
PRL	5617	broad.mit.edu	37	6	22287724	22287734	+	Frame_Shift_Del	DEL	ATAATAAGCAG	ATAATAAGCAG	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:22287724_22287734delATAATAAGCAG	ENST00000306482.1	-	5	1099_1109	c.581_591delCTGCTTATTAT	c.(580-591)tfs	p.SAYY194fs	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	194					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGAGCAGGTTATAATAAGCAGAAAGGCGAGA	0.460													7	59	---	---	---	---					
SAPCD1-AS1	104413891	broad.mit.edu	37	6	31733214	31733215	+	RNA	INS	-	-	A	rs141140500	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31733214_31733215insA	ENST00000419679.1	-	0	50																											aactacatctcaaaaaaaaaac	0.485													2	4	---	---	---	---					
NSUN5P1	155400	broad.mit.edu	37	7	75045497	75045497	+	RNA	DEL	G	G	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:75045497delG	ENST00000393633.2	+	0	4280																				large_intestine(1)|lung(1)	2						GGGTCGTGGAGGGGGGGGATG	0.657													3	4	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													3	6	---	---	---	---					
TPSG1	25823	broad.mit.edu	37	16	1272296	1272304	+	In_Frame_Del	DEL	ACGGAGACT	ACGGAGACT	-	rs146081704	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:1272296_1272304delACGGAGACT	ENST00000234798.4	-	5	553_561	c.549_557delAGTCTCCGT	c.(547-558)aag>aa	p.KVSV183del		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	183	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				TGTGTCCACCACGGAGACTTTCACCTCCC	0.699													15	109	---	---	---	---					
EPB41L3	23136	broad.mit.edu	37	18	5395607	5395607	+	Splice_Site	DEL	C	C	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:5395607delC	ENST00000341928.2	-	20	3413		c.e20+1		EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACTCCACTTACTTTGGTGATG	0.542													46	160	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													4	3	---	---	---	---					
MFSD12	126321	broad.mit.edu	37	19	3542858	3542859	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3542858_3542859insG	ENST00000398558.4	-	10	1536_1537	c.1537_1538insC	c.(1537-1539)ggcfs	p.G513fs	MFSD12_ENST00000389395.3_Intron|C19orf71_ENST00000329493.5_Intron	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTCCAGGCCAGGGGGGCTTCC	0.629													9	46	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10112552	10112552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:10112552delG	ENST00000264828.3	-	7	940	c.855delC	c.(853-855)tcfs	p.S285fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	285	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGATGTCAGTGGAGGTCTGGA	0.607											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	59	---	---	---	---					
ZNF473	25888	broad.mit.edu	37	19	50549329	50549330	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50549329_50549330insT	ENST00000595661.1	+	6	2124_2125	c.1629_1630insT	c.(1627-1632)ggttttfs	p.GF543fs	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Frame_Shift_Ins_p.GF543fs|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Frame_Shift_Ins_p.GF531fs|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Frame_Shift_Ins_p.GF543fs			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	543	Interaction with SLBP/pre-mRNA complex.				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)		AAAAACAAGGATTTTTTGTGAG	0.446													9	61	---	---	---	---					
S100G	795	broad.mit.edu	37	X	16669137	16669148	+	In_Frame_Del	DEL	CTAAAAAGTCTC	CTAAAAAGTCTC	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:16669137_16669148delCTAAAAAGTCTC	ENST00000380200.3	+	2	62_73	c.8_19delCTAAAAAGTCTC	c.(7-21)act>a	p.TKKSP3del	CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron|CTPS2_ENST00000380241.3_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	3							calcium ion binding|vitamin D binding	p.K5M(1)		large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AGAATGAGTACTAAAAAGTCTCCTGAGGAACT	0.382													10	39	---	---	---	---