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
MVB12A	93343	broad.mit.edu	37	19	17531136	17531136	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:17531136C>G	ENST00000317040.7	+	2	1160	c.105C>G	c.(103-105)gtC>gtG	p.V35V	MVB12A_ENST00000528515.1_Silent_p.V35V|MVB12A_ENST00000392702.2_Silent_p.V35V|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000529939.1_Silent_p.V35V|MVB12A_ENST00000543795.1_Silent_p.V35V					multivesicular body subunit 12A																		CCTGCACCGTCGAGGGGGCAC	0.662000													16	90					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712058	56712058	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:56712058C>G	ENST00000425394.2	-	25	3913	c.3537G>C	c.(3535-3537)tgG>tgC	p.W1179C	PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000440411.3_Missense_Mutation_p.W1175C|PAN2_ENST00000257931.5_Missense_Mutation_p.W1178C|PAN2_ENST00000548043.1_Missense_Mutation_p.W1179C	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1179					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGGCACCTTCCAGTCCATCT	0.483000													12	123					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18373961	18373961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:18373961G>T	ENST00000265963.4	+	11	1388	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.E294*|GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.E410*|GTF2H1_ENST00000526630.2_5'UTR|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.E98*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	410					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TATTAGACAAGAAATGGAAGC	0.398000								Nucleotide excision repair (NER)					20	111					4.35082e-09	4.66326e-09	1	1	0
MIA3	375056	broad.mit.edu	37	1	222825573	222825573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:222825573C>T	ENST00000344922.5	+	13	4010	c.3985C>T	c.(3985-3987)Cag>Tag	p.Q1329*	MIA3_ENST00000340535.7_Nonsense_Mutation_p.Q207*|MIA3_ENST00000344441.6_Nonsense_Mutation_p.Q1329*|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1329					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCATTAGGTTCAGATTGCACT	0.353000													20	76					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971523	34971523	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:34971523C>T	ENST00000242315.3	+	2	310	c.228C>T	c.(226-228)cgC>cgT	p.R76R	KIAA1045_ENST00000544237.1_Silent_p.R76R|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	76							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GTGCCGGCCGCGCAGCCTGGG	0.657000													16	185					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707178	6707178	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:6707178C>T	ENST00000309577.6	-	12	1937	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	CHD4_ENST00000544484.1_Missense_Mutation_p.E589K|CHD4_ENST00000357008.2_Missense_Mutation_p.E592K|CHD4_ENST00000544040.1_Missense_Mutation_p.E585K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	592	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTTTCTCTTCATCACCACCA	0.478000													20	300					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128896402	128896402	+	Silent	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:128896402T>C	ENST00000375990.3	+	16	2026	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	UGGT1_ENST00000259253.6_Silent_p.Y565Y			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	565					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGATGATTATCATGCCTTCC	0.368000													13	73					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264429	48264429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:48264429C>T	ENST00000225964.5	-	47	3596	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1160	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAATGGGGCCAGGGAGACCG	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	29					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201949	21201949	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:21201949C>T	ENST00000239347.3	-	1	255	c.216G>A	c.(214-216)caG>caA	p.Q72Q		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	72					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTGAGTCTTCTGGAACTGGT	0.498000													19	111					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153949464	153949464	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:153949464C>G	ENST00000271843.4	-	2	544	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_Intron|JTB_ENST00000356648.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	37					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.E37Q(1)|p.P8R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACAGCTTCTCTTCCTGCACG	0.532000													15	249					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62370243	62370243	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:62370243C>A	ENST00000309546.3	+	6	965	c.878C>A	c.(877-879)tCc>tAc	p.S293Y	RP4-583P15.14_ENST00000467211.1_Intron|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|RP4-583P15.14_ENST00000476221.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCCCTGCCTCCCTGCCCTGA	0.721000													10	20					4.68919e-08	4.99901e-08	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8375152	8375152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:8375152C>T	ENST00000538603.1	-	7	1219	c.661G>A	c.(661-663)Gag>Aag	p.E221K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E221K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	221							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGGAGAGGCTCGGGGCCCTGG	0.632000													8	225					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841857	70841857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:70841857C>A	ENST00000393567.2	-	86	15142	c.14992G>T	c.(14992-14994)Gag>Tag	p.E4998*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4998										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)				CCCTTGGTCTCACCCAGGTGG	0.557000													14	80					7.93312e-07	8.33816e-07	1	1	0
CD9	928	broad.mit.edu	37	12	6334630	6334630	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:6334630C>G	ENST00000382518.1	+	3	541	c.105C>G	c.(103-105)ctC>ctG	p.L35L	CD9_ENST00000009180.4_Silent_p.L35L|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_5'UTR			P21926	CD9_HUMAN	CD9 molecule	35					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GACTATGGCTCCGATTCGACT	0.493000													12	106					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299876	62299876	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:62299876G>A	ENST00000378024.4	-	5	2287	c.2013C>T	c.(2011-2013)gtC>gtT	p.V671V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	671					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCCAAGTTGACATCTGGGG	0.493000													15	170					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466686	110466686	+	Silent	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:110466686T>C	ENST00000329608.6	+	6	1834	c.1443T>C	c.(1441-1443)caT>caC	p.H481H	CSF1_ENST00000344188.5_Silent_p.H365H|CSF1_ENST00000369802.3_Silent_p.H481H|CSF1_ENST00000420111.2_Silent_p.H183H|CSF1_ENST00000369801.1_Silent_p.H365H	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	481					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACACAGGCCATGAGAGGCAGT	0.632000													8	123					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49638093	49638093	+	Splice_Site	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:49638093G>C	ENST00000334186.4	+	13	1790	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	PPFIA3_ENST00000602351.1_Splice_Site_p.E481Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	481						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCCCCCAGGAGCAGCTCTT	0.642000													3	32					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385896	79385896	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:79385896C>T	ENST00000393878.1	-	2	331		c.e2-1		REG3A_ENST00000305165.2_Splice_Site|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGTTCTTCACCTGAGGTGGAA	0.557000													5	37					0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85827499	85827499	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:85827499G>A	ENST00000409668.1	-	4	704	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TMEM150A_ENST00000334462.5_Silent_p.F79F|TMEM150A_ENST00000306353.3_Intron			Q86TG1	T150A_HUMAN	transmembrane protein 150A	79						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CAATGAGGCTGAAGAGGCAGC	0.612000													10	44					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	37					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152631083	152631083	+	Missense_Mutation	SNP	G	G	A	rs150290283		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:152631083G>A	ENST00000367255.5	-	90	17690	c.17089C>T	c.(17089-17091)Cgg>Tgg	p.R5697W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R5309W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5626W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R221W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5626W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5697W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5697					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)		TCGGGGATCCGGAGGGCACTC	0.547000										HNSCC(10;0.0054)			5	29					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134462	58134462	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:58134462A>G	ENST00000357272.4	+	36	6139	c.5974A>G	c.(5974-5976)Atc>Gtc	p.I1992V	FLNB_ENST00000295956.4_Missense_Mutation_p.I1992V|FLNB_ENST00000348383.5_Missense_Mutation_p.I1992V|FLNB_ENST00000490882.1_Missense_Mutation_p.I2023V|FLNB_ENST00000429972.2_Missense_Mutation_p.I1981V|FLNB_ENST00000493452.1_Missense_Mutation_p.I1799V|FLNB_ENST00000419752.2_Missense_Mutation_p.I1812V|FLNB_ENST00000358537.3_Missense_Mutation_p.I1968V			O75369	FLNB_HUMAN	filamin B, beta	1992	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCGTGTCTATCATGGTGGT	0.572000													8	48					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62535768	62535768	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:62535768G>C	ENST00000383710.4	-	11	2125	c.1776C>G	c.(1774-1776)ttC>ttG	p.F592L	CADPS_ENST00000283269.9_Missense_Mutation_p.F592L|CADPS_ENST00000357948.3_Missense_Mutation_p.F592L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	592	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAGCATTGAAGAAGGCTCGGC	0.522000													11	106					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557515	170557515	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:170557515A>C	ENST00000359744.3	+	4	422	c.34A>C	c.(34-36)Aca>Cca	p.T12P	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	12							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTTTGACAATACAATCATAGA	0.328000													4	34					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554479	18554479	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:18554479G>A	ENST00000251296.1	+	2	541	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	53	Ig-like 1.					extracellular region		p.R53H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACAGATGGGCGCATGCGGGAG	0.577000													9	92					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151743	27151743	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:27151743G>A	ENST00000305364.4	-	3	699	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TRIM35_ENST00000521253.1_Silent_p.L174L	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	206					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ATGGCATCCAGAATGGCCTGC	0.577000													15	54					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832549	4832549	+	Missense_Mutation	SNP	C	C	T	rs149958982	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:4832549C>T	ENST00000378191.4	+	4	1508	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T376M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	376	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCACTCGACGACGGGGGAG	0.582000													8	59					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761052	241761052	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:241761052C>T	ENST00000366554.2	-	3	1047	c.941G>A	c.(940-942)aGa>aAa	p.R314K	OPN3_ENST00000331838.5_Missense_Mutation_p.R235K|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	314					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GCTTACCTTTCTGATCATGAA	0.388000													17	53					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73669370	73669370	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:73669370G>A	ENST00000339764.1	+	2	828	c.77G>A	c.(76-78)aGa>aAa	p.R26K		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	26	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AGGTACCGCAGACTCGCCCTT	0.532000													13	63					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64135984	64135984	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:64135984A>T	ENST00000395254.3	+	2	312	c.32A>T	c.(31-33)tAt>tTt	p.Y11F	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.Y11F|ZNF365_ENST00000395255.3_Missense_Mutation_p.Y11F	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAAAGCAGATATCCCTGGCAG	0.468000													40	77					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955009	1955009	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:1955009C>G	ENST00000382888.3	+	2	658	c.140C>G	c.(139-141)tCt>tGt	p.S47C	WHSC1_ENST00000382895.3_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	694					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATTCTTGTTCTTTGCACCTC	0.448000			T	IGH@	MM								11	30					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390990	208390990	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:208390990G>A	ENST00000367033.3	-	2	1035	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	93	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGGGTAACAAGACTTGTTGTC	0.562000													48	54					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664075	39664075	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:39664075C>T	ENST00000263881.3	-	1	378	c.54G>A	c.(52-54)ctG>ctA	p.L18L	MAP4K3_ENST00000484274.1_Silent_p.L18L|MAP4K3_ENST00000341681.5_Silent_p.L18L|AC007246.3_ENST00000426083.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	18	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGCGCTGAATCAGCTCGAAGT	0.721000													9	29					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10904463	10904463	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:10904463T>C	ENST00000381661.3	+	5	399	c.290T>C	c.(289-291)tTa>tCa	p.L97S	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.L97S	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	97					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCAGTTGACTTAACATCCTTT	0.488000													6	78					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531952	42531952	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:42531952G>A	ENST00000282030.5	+	4	2943	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	883						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)		TGACCAAGCGGAGAAGAGCTC	0.572000									Schinzel-Giedion syndrome				4	55					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	75001077	75001077	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:75001077G>T	ENST00000420843.2	-	2	124	c.27C>A	c.(25-27)ttC>ttA	p.F9L	ARRB1_ENST00000393505.4_Missense_Mutation_p.F9L|ARRB1_ENST00000360025.3_Missense_Mutation_p.F9L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	9	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGGCCTTCTTGAACACTCTGT	0.587000													9	83					2.80697e-09	3.01396e-09	1	1	0
CDR1	1038	broad.mit.edu	37	X	139866480	139866480	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:139866480C>T	ENST00000370532.2	-	1	243	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	18	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAAGGTATGTCTTCCAACAAA	0.413000													49	130					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183086669	183086669	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:183086669C>T	ENST00000258341.4	+	10	1945	c.1688C>T	c.(1687-1689)gCa>gTa	p.A563V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	563	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTATTCCAGCAAAGTTCTTG	0.498000													4	81					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943920	109943920	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:109943920C>G	ENST00000218054.4	-	7	764	c.568G>C	c.(568-570)Gat>Cat	p.D190H	CHRDL1_ENST00000372045.1_Missense_Mutation_p.D184H|CHRDL1_ENST00000372042.1_Missense_Mutation_p.D191H|CHRDL1_ENST00000394797.4_Missense_Mutation_p.D190H|CHRDL1_ENST00000434224.1_Missense_Mutation_p.D111H|CHRDL1_ENST00000482160.1_Missense_Mutation_p.D111H|CHRDL1_ENST00000444321.2_Missense_Mutation_p.D190H	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	184					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATATCACCATCAGAATGTTCC	0.408000													9	40					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40865278	40865278	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:40865278C>G	ENST00000428826.2	-	11	1274	c.1153G>C	c.(1153-1155)Gaa>Caa	p.E385Q	EZH1_ENST00000435174.1_Missense_Mutation_p.E246Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E345Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E385Q|EZH1_ENST00000415827.2_Missense_Mutation_p.E376Q|EZH1_ENST00000590078.1_Missense_Mutation_p.E315Q			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	385					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGTCTCCTTCTTTAGTCTCA	0.532000													13	82					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:46174547C>G	ENST00000590918.1	+	4	276	c.177C>G	c.(175-177)ctC>ctG	p.L59L	GIPR_ENST00000263281.3_Silent_p.L59L|GIPR_ENST00000304207.8_Intron	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667000													24	135					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51621490	51621490	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:51621490C>T	ENST00000522124.1	+	17	1897	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	SNTG1_ENST00000517473.1_Silent_p.L412L|SNTG1_ENST00000276467.5_Silent_p.L412L|SNTG1_ENST00000518864.1_Silent_p.L412L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	412					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TAATGGGACTCACAATTGATT	0.358000													23	52					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224450	23224450	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:23224450G>A	ENST00000300061.2	+	11	1602	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	487					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTCACTTGGGACCAAGGCCG	0.572000													7	46					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060725	87060725	+	Missense_Mutation	SNP	C	C	A	rs140055468	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:87060725C>A	ENST00000276616.2	-	3	1198	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	375							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTCTACTATCCTTAAGTTTCT	0.443000													29	74					1.39806e-14	1.52864e-14	1	1	0
AGO4	192670	broad.mit.edu	37	1	36306987	36306987	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:36306987G>A	ENST00000373210.3	+	14	2191	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		AACATGGTTCGAGAGCTGCTG	0.522000													8	64					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172135	64172135	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:64172135C>T	ENST00000262150.2	-	12	2525	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K		NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	745					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATAGCTTTCATCCTGATCA	0.448000													5	37					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106091464	106091464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:106091464G>A	ENST00000357242.5	+	11	1942	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E584K|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E590K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	590	Rab-GAP TBC.					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						AAAAGAGGAAGAAGCTTTTTG	0.323000													6	23					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25274961	25274961	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:25274961G>A	ENST00000218548.6	+	13	2133	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	ATP12A_ENST00000381946.3_Silent_p.P594P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGAACTTTCCGACCTCCAACC	0.493000													6	69					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172586293	172586293	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:172586293G>C	ENST00000534253.2	+	15	1634	c.1466G>C	c.(1465-1467)gGa>gCa	p.G489A	DYNC1I2_ENST00000263811.4_Missense_Mutation_p.G483A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.G463A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.G481A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.G481A|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.G489A|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.G489A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.G463A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.G483A|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.G463A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.G489A			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	489					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCAGCTGTTGGAGCAGTAGAC	0.393000													18	44					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954266	95954266	+	Missense_Mutation	SNP	C	C	A	rs147967943	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:95954266C>A	ENST00000317620.9	+	22	2503	c.2370C>A	c.(2368-2370)ttC>ttA	p.F790L	PROM2_ENST00000542147.1_Missense_Mutation_p.F741L|PROM2_ENST00000403131.2_Missense_Mutation_p.F790L|PROM2_ENST00000317668.4_Missense_Mutation_p.F790L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	790						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGCACCTTCTTCCTGATCC	0.597000													6	82					0.00116845	0.00119856	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826396	13826396	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:13826396T>C	ENST00000324750.3	+	1	854	c.632T>C	c.(631-633)cTg>cCg	p.L211P		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	211					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATGTTCCTCCTGGCGCGGACT	0.602000													96	513					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95418767	95418767	+	Splice_Site	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:95418767T>C	ENST00000371447.3	+	17	2282		c.e17+2			NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime						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)				GATTATCATGTAGGTAGTTGA	0.289000													10	33					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483338	56483338	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:56483338C>G	ENST00000370765.6	-	23	5601	c.5494G>C	c.(5494-5496)Gag>Cag	p.E1832Q	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1243					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCATCCTCAAGTTTCTGA	0.403000													25	78					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116849931	116849931	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:116849931C>G	ENST00000265437.5	+	13	1559	c.1345C>G	c.(1345-1347)Ctt>Gtt	p.L449V	ST7_ENST00000393446.2_Missense_Mutation_p.L426V|ST7_ENST00000393447.4_Missense_Mutation_p.L406V|ST7_ENST00000393444.3_Missense_Mutation_p.L383V|ST7_ENST00000432298.1_Missense_Mutation_p.L403V|ST7_ENST00000422922.1_Missense_Mutation_p.L380V|ST7_ENST00000393449.1_Missense_Mutation_p.L449V|ST7_ENST00000393451.3_Missense_Mutation_p.L426V|ST7_ENST00000323984.3_Missense_Mutation_p.L449V|ST7_ENST00000393443.1_Missense_Mutation_p.L376V	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	449						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATTCTTTCATCTTGCACACTG	0.378000													6	48					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036477	1036477	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:1036477C>G	ENST00000263097.4	+	6	933	c.570C>G	c.(568-570)ctC>ctG	p.L190L	CNN2_ENST00000562958.2_Silent_p.L211L|CNN2_ENST00000348419.3_Silent_p.L151L|CNN2_ENST00000565096.2_Silent_p.L179L|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	190				RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 4; BAA20887).	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCATCTCTATGACCCCA	0.622000													8	132					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884753	64884753	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:64884753G>C	ENST00000310597.4	-	1	417	c.373C>G	c.(373-375)Cca>Gca	p.P125A	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	125							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCCGCCATGGAGGCAGCAGC	0.731000													3	15					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112035563	112035563	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:112035563T>C	ENST00000354650.3	-	5	937	c.331A>G	c.(331-333)Ata>Gta	p.I111V	FYN_ENST00000368678.4_Missense_Mutation_p.I111V|FYN_ENST00000356013.2_Missense_Mutation_p.I111V|FYN_ENST00000538466.1_Missense_Mutation_p.I111V|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Missense_Mutation_p.I111V|FYN_ENST00000368682.3_Missense_Mutation_p.I111V|FYN_ENST00000368667.2_Missense_Mutation_p.I111V	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	111	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTGTTCAATATTTGAAATTTT	0.438000													3	24					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35758054	35758054	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:35758054C>T	ENST00000602122.1	+	8	1758	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	LSR_ENST00000361790.3_Missense_Mutation_p.S444F|LSR_ENST00000427250.1_Missense_Mutation_p.S288F|LSR_ENST00000347609.4_Missense_Mutation_p.S386F|LSR_ENST00000360798.3_Missense_Mutation_p.S376F|LSR_ENST00000354900.3_Missense_Mutation_p.S425F			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	444					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACTGGCGATCTCGGCCTTCC	0.697000													21	64					0	0	1	0	0
RPL26	6154	broad.mit.edu	37	17	8280908	8280908	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:8280908C>G	ENST00000584164.1	-	4	803	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	RPL26_ENST00000583011.1_Missense_Mutation_p.E138Q|RPL26_ENST00000293842.5_Missense_Mutation_p.E138Q|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.E138Q|RP11-849F2.7_ENST00000582471.1_Intron|RP11-849F2.5_ENST00000579904.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	138					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			skin(1)|urinary_tract(1)	2						TCAATGGTTTCTTCCTTGTAT	0.388000													6	67					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318914	7318914	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:7318914C>G	ENST00000302926.2	+	6	1195	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	NLGN2_ENST00000575301.1_Silent_p.L374L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	374					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)				GAGAATTCCTCAACTACGACA	0.607000													9	115					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	712942	712942	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:712942G>A	ENST00000382303.1	+	7	2828	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KANK1_ENST00000382293.3_Missense_Mutation_p.D568N|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.D726N	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	726					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCGTGTCAAGGACATCAACTC	0.537000													4	69					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749967	79749967	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:79749967C>G	ENST00000305428.3	+	2	1553	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	493						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTGTGCACCTCTGGTCAGGGC	0.527000													4	47					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793359	8793359	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:8793359C>G	ENST00000447110.1	-	8	866	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E248Q|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E248Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	248				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGCCGGGCCTCTGCAGCATCC	0.627000													13	77					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148637877	148637877	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:148637877C>T	ENST00000506113.1	+	23	2444	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.F654F|ABLIM3_ENST00000508983.1_Silent_p.F621F|ABLIM3_ENST00000517451.1_Silent_p.F140F|ABLIM3_ENST00000504238.1_Intron|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.F559F|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	654	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGAGTTCTACCAAGTCT	0.582000													6	62					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92462586	92462586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:92462586C>G	ENST00000265734.4	-	2	463	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CDK6_ENST00000424848.2_Missense_Mutation_p.E18Q	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	18	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.E18K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCCGATCTCCGCCACGCAT	0.716000			T	MLLT10	ALL								4	23					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084612	31084612	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:31084612G>A	ENST00000376288.2	-	2	806	c.780C>T	c.(778-780)caC>caT	p.H260H	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	260	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CACCAGAACCGTGCTGGTCCA	0.627000													5	75					0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15475904	15475904	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:15475904C>T	ENST00000396842.2	+	4	810	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	EAF1_ENST00000432764.2_Missense_Mutation_p.R28C	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCAGCCCACTCGTCCTCCACA	0.512000													18	265					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62801712	62801712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:62801712G>A	ENST00000512091.2	+	14	2911	c.2164G>A	c.(2164-2166)Gga>Aga	p.G722R	LPHN3_ENST00000506720.1_Missense_Mutation_p.G790R|LPHN3_ENST00000514157.1_Missense_Mutation_p.G722R|LPHN3_ENST00000506700.1_Missense_Mutation_p.G722R|LPHN3_ENST00000509896.1_Missense_Mutation_p.G790R|LPHN3_ENST00000511324.1_Missense_Mutation_p.G790R|LPHN3_ENST00000545650.1_Missense_Mutation_p.G722R|LPHN3_ENST00000508946.1_Missense_Mutation_p.G722R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507625.1_Missense_Mutation_p.G790R|LPHN3_ENST00000514591.1_Missense_Mutation_p.G722R|LPHN3_ENST00000514996.1_Missense_Mutation_p.G722R|LPHN3_ENST00000504896.1_Missense_Mutation_p.G722R|LPHN3_ENST00000506746.1_Missense_Mutation_p.G790R|LPHN3_ENST00000507164.1_Missense_Mutation_p.G790R|LPHN3_ENST00000508693.1_Missense_Mutation_p.G790R			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATGGGCCATGGAAGCACTAT	0.388000													3	11					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447180	22447180	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:22447180C>T	ENST00000325870.2	+	1	341	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CCGGTACCATCGGGGATGCAG	0.741000													3	10					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135616890	135616890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:135616890G>A	ENST00000356140.5	+	3	298	c.162G>A	c.(160-162)tgG>tgA	p.W54*	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.G13E|ACMSD_ENST00000283054.4_Missense_Mutation_p.G13E	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	54					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGAATTGCTGGGATCCAGAAG	0.423000													6	47					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74708318	74708318	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:74708318C>G	ENST00000261918.4	-	8	1358	c.810G>C	c.(808-810)caG>caC	p.Q270H	SEMA7A_ENST00000543145.2_Missense_Mutation_p.Q256H|SEMA7A_ENST00000542748.1_Missense_Mutation_p.Q105H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	270	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						TTTCCCCACCCTGGTCCCCCT	0.567000													12	58					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33638590	33638590	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:33638590G>C	ENST00000374316.5	+	21	3644	c.2584G>C	c.(2584-2586)Gag>Cag	p.E862Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.E862Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	862					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTCACTTTTGAGGTGGCTGG	0.597000													34	127					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31812910	31812910	+	Silent	SNP	C	C	T	rs140343618	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:31812910C>T	ENST00000375454.3	+	4	603	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.F95F	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	131						extracellular region	lipid binding										GCAGGTCCTTCGATAACAACA	0.507000													30	76					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40498281	40498281	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:40498281C>G	ENST00000378426.1	-	2	691	c.94G>C	c.(94-96)Gat>Cat	p.D32H	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000327877.5_Missense_Mutation_p.D151H|CXorf38_ENST00000378421.1_Missense_Mutation_p.D32H			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	151										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TTCTTTCGATCAACCACGAAG	0.493000													4	29					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23793772	23793772	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:23793772G>A	ENST00000546136.1	-	7	954	c.952C>T	c.(952-954)Cca>Tca	p.P318S	SOX5_ENST00000309359.1_Missense_Mutation_p.P318S|SOX5_ENST00000381381.2_Missense_Mutation_p.P318S|SOX5_ENST00000545921.1_Missense_Mutation_p.P321S|SOX5_ENST00000537393.1_Missense_Mutation_p.P296S|SOX5_ENST00000451604.2_Missense_Mutation_p.P331S|SOX5_ENST00000541536.1_Missense_Mutation_p.P318S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	331					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						CCTAAGCCTGGTGTTGCTGCG	0.453000													15	107					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176860562	176860562	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:176860562C>T	ENST00000355472.5	+	8	791	c.623C>T	c.(622-624)aCa>aTa	p.T208I	GRK6_ENST00000507633.1_Missense_Mutation_p.T208I|GRK6_ENST00000393576.3_Missense_Mutation_p.T208I|GRK6_ENST00000355958.5_Missense_Mutation_p.T208I|GRK6_ENST00000528793.1_Missense_Mutation_p.T208I	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	208	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCGGGCCACAGGTAAGATG	0.607000													6	86					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54361932	54361932	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:54361932C>G	ENST00000254442.3	+	10	1260	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S350C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	350										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGTGATTCTTCTGGAAGGTTG	0.328000													6	42					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303140	47303140	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:47303140G>C	ENST00000342922.4	+	8	1662	c.1305G>C	c.(1303-1305)atG>atC	p.M435I	MADD_ENST00000395344.3_Missense_Mutation_p.M435I|MADD_ENST00000395336.3_Missense_Mutation_p.M435I|MADD_ENST00000402192.2_Missense_Mutation_p.M435I|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.M435I|MADD_ENST00000402799.1_Missense_Mutation_p.M435I|MADD_ENST00000349238.3_Missense_Mutation_p.M435I|MADD_ENST00000311027.5_Missense_Mutation_p.M435I|MADD_ENST00000406482.1_Missense_Mutation_p.M435I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	435					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			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)		TGGCCAGCATGAGTCTCAACA	0.512000													6	65					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239739	155239739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:155239739G>T	ENST00000424344.3	+	10	1535	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Nonsense_Mutation_p.E411*			Q01113	IL9R_HUMAN	interleukin 9 receptor	411					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					TCTGCCACAGGAGGACTGGGC	0.647000													4	53					0.00307968	0.00313749	1	1	0
DHODH	1723	broad.mit.edu	37	16	72057473	72057473	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:72057473C>T	ENST00000572887.1	+	8	1245	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	DHODH_ENST00000219240.4_Silent_p.L358L			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	358					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	ACACGGCCCTCACCTTCTGGG	0.612000													4	88					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809845	7809845	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:7809845G>C	ENST00000315599.7	-	5	904	c.882C>G	c.(880-882)atC>atG	p.I294M	CD209_ENST00000394173.4_Missense_Mutation_p.I133M|CD209_ENST00000601256.1_Missense_Mutation_p.I270M|CD209_ENST00000204801.8_Missense_Mutation_p.I250M|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.I294M|CD209_ENST00000593660.1_Missense_Mutation_p.I224M|CD209_ENST00000602261.1_Missense_Mutation_p.I202M|CD209_ENST00000301357.8_Missense_Mutation_p.I158M|CD209_ENST00000593821.1_Missense_Mutation_p.I158M|CD209_ENST00000601951.1_Missense_Mutation_p.I270M|CD209_ENST00000315591.8_Missense_Mutation_p.I270M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	294	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCACTTTTGATTACGACGA	0.572000													5	78					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419228	130419228	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:130419228T>A	ENST00000370904.1	-	11	1475	c.565A>T	c.(565-567)Atc>Ttc	p.I189F	IGSF1_ENST00000370901.4_Missense_Mutation_p.I198F|IGSF1_ENST00000370910.1_Missense_Mutation_p.I189F|IGSF1_ENST00000370900.1_Missense_Mutation_p.I198F|IGSF1_ENST00000361420.3_Missense_Mutation_p.I198F|IGSF1_ENST00000370903.3_Missense_Mutation_p.I198F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	198	Ig-like C2-type 2.				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						GTGCGGCAGATGTAAACCCCT	0.542000													14	59					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497091	31497091	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:31497091C>T	ENST00000330498.3	+	4	364	c.345C>T	c.(343-345)ccC>ccT	p.P115P		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	115					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGTTTGCACCCGTGTACCTGA	0.642000													7	103					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764194	169764194	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:169764194C>T	ENST00000375363.3	+	5	765	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	225					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TTACCTGCTTCTTAGGGTGCT	0.527000													19	88					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43936860	43936860	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:43936860G>C	ENST00000343694.3	+	2	172	c.100G>C	c.(100-102)Gac>Cac	p.D34H	MATN4_ENST00000353917.5_5'UTR|MATN4_ENST00000537548.1_5'UTR|MATN4_ENST00000360607.6_5'UTR|MATN4_ENST00000372751.4_5'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.D34H|RBPJL_ENST00000372741.3_Missense_Mutation_p.D34H|MATN4_ENST00000342716.4_5'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	34					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCGAAGCCGACAGGCGGAG	0.647000													27	86					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947278	51947278	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:51947278C>T	ENST00000371117.3	-	4	468	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V65M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	65	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCATGTTCACGTTCACCAGG	0.493000													4	117					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312839	52312839	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:52312839G>A	ENST00000550683.1	+	8	1460	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	ACVRL1_ENST00000419526.2_Silent_p.K265K|ACVRL1_ENST00000388922.4_Silent_p.K439K	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	439	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGGACATGAAGAAGGTGGTGT	0.577000													4	83					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46173952	46173952	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:46173952G>A	ENST00000590918.1	+	3	231	c.132G>A	c.(130-132)agG>agA	p.R44R	GIPR_ENST00000263281.3_Silent_p.R44R|GIPR_ENST00000304207.8_Silent_p.R44R	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	44					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGTACCGCAGGGAGTGCCAGG	0.677000													3	27					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15229984	15229984	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:15229984G>T	ENST00000263383.3	-	9	1183	c.1044C>A	c.(1042-1044)gtC>gtA	p.V348V	ILVBL_ENST00000534378.1_Silent_p.V241V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	348						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCTGCTAGGACAATGACAT	0.627000													12	82					0.0167234	0.0169218	1	1	0
DNM2	1785	broad.mit.edu	37	19	10904436	10904436	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:10904436G>A	ENST00000314646.5	+	8	1197	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	DNM2_ENST00000359692.6_Missense_Mutation_p.E345K|DNM2_ENST00000355667.6_Missense_Mutation_p.E345K|DNM2_ENST00000408974.4_Missense_Mutation_p.E345K|DNM2_ENST00000585892.1_Missense_Mutation_p.E345K|DNM2_ENST00000389253.4_Missense_Mutation_p.E345K			P50570	DYN2_HUMAN	dynamin 2	345					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGAGGATCGAGGGCTCAGG	0.522000			"""F, N, Splice, Mis, O"""		ETP ALL								49	169					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026493	61026493	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:61026493G>A	ENST00000335613.5	-	20	2908	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	VWCE_ENST00000535710.1_Missense_Mutation_p.S306F	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	841	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GAGTCGAGGGGAGGCCCCAGG	0.627000													7	46					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7812252	7812252	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:7812252C>G	ENST00000593660.1	-	1	145	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	CD209_ENST00000394173.4_Splice_Site|CD209_ENST00000601256.1_Missense_Mutation_p.E16Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000394161.5_Splice_Site|CD209_ENST00000354397.6_Splice_Site|CD209_ENST00000602261.1_Splice_Site|CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.E16Q|CD209_ENST00000315591.8_Splice_Site|CD209_ENST00000315599.7_Splice_Site			Q9NNX6	CD209_HUMAN	CD209 molecule	16					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTTCCTCCTCTGAATGGATA	0.572000													37	441					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49956881	49956881	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:49956881G>A	ENST00000550165.1	-	9	974	c.708C>T	c.(706-708)caC>caT	p.H236H	MCRS1_ENST00000357123.4_Silent_p.H249H|MCRS1_ENST00000546244.1_Silent_p.H45H|MCRS1_ENST00000343810.4_Silent_p.H236H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	236					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAGGGTGTCTGTGCAGCAGGT	0.577000													2	1					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347325	89347325	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:89347325G>A	ENST00000301030.4	-	9	6085	c.5625C>T	c.(5623-5625)gtC>gtT	p.V1875V	ANKRD11_ENST00000378330.2_Silent_p.V1875V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1875	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGACGGGGTGACAGTGACAA	0.612000													9	95					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927832	22927832	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:22927832C>T	ENST00000166244.3	+	16	2841	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	923						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTTTGACCTCCGAGGGGGCA	0.687000													25	98					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43037311	43037311	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:43037311C>T	ENST00000458501.2	+	11	1120	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	HGSNAT_ENST00000379644.4_Missense_Mutation_p.P346S|HGSNAT_ENST00000521576.1_Missense_Mutation_p.P63S|HGSNAT_ENST00000297798.7_Missense_Mutation_p.P78S			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	374					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGTGCGCATTCCTGGTGTGCT	0.483000													10	248					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38308444	38308444	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr22:38308444C>T	ENST00000215957.6	+	3	408	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	94	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGACTGCCTCAGCATCATGA	0.597000													15	71					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89892446	89892446	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:89892446G>A	ENST00000534061.1	+	8	1160	c.930G>A	c.(928-930)aaG>aaA	p.K310K	NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	310	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAGTTGGAAGGGAGCCCTTA	0.358000													13	54					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057911	46057911	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:46057911C>T	ENST00000380095.1	+	1	639	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	193	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CGTGTCCCTCCTCTGCCACCC	0.677000													53	241					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547000													4	86					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100007089	100007089	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:100007089G>A	ENST00000398027.2	-	9	1077	c.830C>T	c.(829-831)tCa>tTa	p.S277L	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S157L|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S157L|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S278L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	277							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGAGAACTGAGGGGTCAAT	0.448000													4	46					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507706	145507706	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:145507706G>C	ENST00000330165.8	+	1	109	c.40G>C	c.(40-42)Gat>Cat	p.D14H	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.D14H|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGGGCGAAGATTTCGCCAT	0.562000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912924	60912924	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:60912924G>A	ENST00000252999.3	-	15	2028	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	654	Laminin EGF-like 7.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGTAGCCGGGGCGGCAGC	0.682000													16	34					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45371652	45371652	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:45371652G>C	ENST00000591214.1	-	9	1344	c.1249C>G	c.(1249-1251)Ctt>Gtt	p.L417V	SMAD2_ENST00000402690.2_Intron|SMAD2_ENST00000262160.6_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000356825.4_Intron			Q15796	SMAD2_HUMAN	SMAD family member 2	0	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GAATATGCAAGAATGCAATGA	0.338000													6	43					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641419	123641419	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:123641419C>T	ENST00000606320.1	-	24	3693	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E1011K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1133K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1011					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAACCCAGTTCTCGATTAATC	0.363000													8	39					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218185	105218185	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:105218185G>A	ENST00000329905.5	-	1	460	c.324C>T	c.(322-324)ctC>ctT	p.L108L	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	108						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CAGGCGCGATGAGGGCGCGCT	0.672000													14	53					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792886	65792886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65792886G>C	ENST00000312106.5	-	1	1102	c.965C>G	c.(964-966)aCt>aGt	p.T322S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	322					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GAGTTGGGAAGTGCTCTGGAC	0.587000													9	51					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168054931	168054931	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:168054931G>A	ENST00000367838.1	-	8	1741	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	GPR161_ENST00000539777.1_Silent_p.I398I|GPR161_ENST00000271357.5_Silent_p.I476I|GPR161_ENST00000361697.2_Silent_p.I476I|GPR161_ENST00000537209.1_Silent_p.I496I|GPR161_ENST00000367835.1_Silent_p.I476I|GPR161_ENST00000546300.1_Silent_p.I362I|GPR161_ENST00000367836.1_Silent_p.I344I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	476					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAAATAAGTTGATTTTGGCTT	0.557000													12	199					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131872353	131872353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:131872353G>C	ENST00000359827.3	-	15	3832	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.S957*			Q9HCM2	PLXA4_HUMAN	plexin A4	957	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.S957L(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTCAGATCTGAGAGAGTCAG	0.607000													82	191					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363777	4363777	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:4363777C>T	ENST00000269886.3	-	6	742	c.564G>A	c.(562-564)gaG>gaA	p.E188E	SH3GL1_ENST00000417295.2_Silent_p.E140E|SH3GL1_ENST00000598564.1_Silent_p.E124E	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	188	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCTCGAACTTCTCCAGCGCCT	0.582000			T	MLL	AL								22	117					0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2034728	2034728	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:2034728C>T	ENST00000567719.1	+	1	17	c.14C>T	c.(13-15)tCg>tTg	p.S5L	GFER_ENST00000569451.1_Intron|GFER_ENST00000248114.6_Intron			P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	0					cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						AACTCACTCTCGGTCGGCCTG	0.652000													4	60					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988561	45988561	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:45988561G>A	ENST00000458629.1	+	1	2051	c.588G>A	c.(586-588)atG>atA	p.M196I	CXCR6_ENST00000304552.4_Missense_Mutation_p.M196I|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.M196I|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.M196I|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	196					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCACCCAGATGACACTGGGGT	0.463000													11	91					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713554	23713554	+	Silent	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:23713554C>A	ENST00000256797.4	-	11	1434	c.1266G>T	c.(1264-1266)ctG>ctT	p.L422L	ERN2_ENST00000457008.2_Silent_p.L374L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	374					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGGACCCTCAGCATGGTGG	0.597000													15	156					3.27435e-08	3.49694e-08	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208391159	208391159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:208391159G>A	ENST00000367033.3	-	2	866	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	37	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTGCTGAACTGAGGCATGCCG	0.667000													61	92					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44596402	44596402	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:44596402C>T	ENST00000322927.2	-	5	885	c.785G>A	c.(784-786)cGc>cAc	p.R262H	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Missense_Mutation_p.R107H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCGCATGTGGCGCAGCAGTGT	0.617000													16	63					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22095013	22095013	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:22095013C>T	ENST00000376980.3	-	9	1284	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	332	SANT 1.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGTCCTCTTCTGTCCATTCA	0.388000													18	28					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224853	59224853	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:59224853G>C	ENST00000300127.2	+	1	443	c.420G>C	c.(418-420)gtG>gtC	p.V140V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAAAGAGGTGTGGGTGGCCT	0.512000													15	180					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347299	89347299	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:89347299G>C	ENST00000301030.4	-	9	6111	c.5651C>G	c.(5650-5652)tCa>tGa	p.S1884*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S1884*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1884	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGTAAACTTGAGAAGACGCC	0.627000													10	97					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208471	55208471	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:55208471G>A	ENST00000201031.2	+	4	892	c.649G>A	c.(649-651)Gta>Ata	p.V217I	TFAP2C_ENST00000544508.1_Missense_Mutation_p.V48I	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	217					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GGTGGGGGCCGTAATGAACCC	0.537000													4	91					0	0	1	0	0
C19orf10	56005	broad.mit.edu	37	19	4659970	4659970	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:4659970C>G	ENST00000262947.3	-	5	450	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	C19orf10_ENST00000599630.1_Missense_Mutation_p.E139Q	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	139						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		TCAAATTCCTCAGTTTTCAGA	0.493000													7	124					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279412	50279412	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr22:50279412C>G	ENST00000216268.5	+	2	2579	c.2102C>G	c.(2101-2103)tCc>tGc	p.S701C		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCCTACTTCTCCAGGACAGCT	0.463000													23	120					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692330	12692330	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:12692330G>T	ENST00000311437.6	-	5	681	c.559C>A	c.(559-561)Cac>Aac	p.H187N		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCATATTCGTGACACTCATTT	0.443000													7	83					8.12818e-05	8.45388e-05	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46400546	46400546	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:46400546G>A	ENST00000454345.1	+	29	3113	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	DGKZ_ENST00000395574.3_Silent_p.Q774Q|DGKZ_ENST00000421244.2_Silent_p.Q808Q|DGKZ_ENST00000318201.8_Silent_p.Q785Q|DGKZ_ENST00000532868.2_Silent_p.Q812Q|DGKZ_ENST00000527911.1_Silent_p.Q808Q|DGKZ_ENST00000543978.1_Silent_p.Q160Q|DGKZ_ENST00000456247.2_Silent_p.Q807Q|DGKZ_ENST00000343674.6_Silent_p.Q824Q|DGKZ_ENST00000528615.1_Silent_p.Q586Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	996					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTCAGCTCCAGGAGCTGCACC	0.677000													4	17					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122404086	122404086	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:122404086G>C	ENST00000474629.2	+	2	508	c.242G>C	c.(241-243)gGa>gCa	p.G81A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGGAAAAGGAACATTCAAG	0.398000													13	48					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65293630	65293630	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65293630C>T	ENST00000524944.1	+	4	444	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SCYL1_ENST00000533862.1_Silent_p.L137L|SCYL1_ENST00000420247.2_Silent_p.L137L|SCYL1_ENST00000279270.6_Silent_p.L137L|SCYL1_ENST00000525364.1_Silent_p.L137L|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Silent_p.L137L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	137	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ACTGCAGCCTCATCCACAACA	0.617000													5	45					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396630	136396630	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:136396630C>G	ENST00000264160.4	+	14	1527	c.1157C>G	c.(1156-1158)tCa>tGa	p.S386*	R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.S386*|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.S342*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.S330*|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.S342*	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	386							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGTGGAATCTCAGTCCTGACA	0.458000													35	112					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43625890	43625890	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:43625890G>A	ENST00000372806.3	+	7	869	c.774G>A	c.(772-774)gtG>gtA	p.V258V	STK4_ENST00000372801.1_Silent_p.V258V|STK4_ENST00000499879.2_Silent_p.V203V|STK4_ENST00000396731.4_Silent_p.V258V	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	258	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CAGATTTTGTGAAACAGTGTC	0.453000													4	110					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214972961	214972961	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:214972961C>T	ENST00000331683.5	+	14	1664	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	SPAG16_ENST00000374309.3_Silent_p.I429I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	523					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCATTCTATCAATGATGCCA	0.323000													4	37					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483851	15483851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:15483851C>T	ENST00000269701.2	-	5	732	c.672G>A	c.(670-672)tgG>tgA	p.W224*		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	224					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCAGCTCGTTCCAGGGCGTGG	0.711000													5	19					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89211726	89211726	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:89211726C>T	ENST00000317447.4	+	9	1795	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.S208L|ACSF3_ENST00000406948.3_Missense_Mutation_p.S473L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	473					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GGCCGGACCTCAGTGGACATC	0.602000													20	44					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146795377	146795377	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:146795377C>G	ENST00000343218.5	-	4	912	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	DPYSL3_ENST00000398514.3_Missense_Mutation_p.E125Q|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	125					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCCACTCTCTCCATTTC	0.532000													23	166					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37336566	37336566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:37336566C>T	ENST00000361924.2	+	6	1053	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q249*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	227					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCTCCAAACTCAGGTAAAAGA	0.363000													5	49					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304481	47304481	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:47304481C>T	ENST00000342922.4	+	10	2180	c.1823C>T	c.(1822-1824)cCa>cTa	p.P608L	MADD_ENST00000395344.3_Missense_Mutation_p.P608L|MADD_ENST00000395336.3_Missense_Mutation_p.P608L|MADD_ENST00000402192.2_Missense_Mutation_p.P608L|MADD_ENST00000407859.3_Missense_Mutation_p.P608L|MADD_ENST00000402799.1_Missense_Mutation_p.P608L|MADD_ENST00000349238.3_Missense_Mutation_p.P608L|MADD_ENST00000311027.5_Missense_Mutation_p.P608L|MADD_ENST00000406482.1_Missense_Mutation_p.P608L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	608					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			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)		CTGAGTGTACCACCAGAGCGG	0.522000													5	88					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990452	42990452	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:42990452G>A	ENST00000378661.2	-	1	949	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	290					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCCCTCTGCGGGCCTGCCTGC	0.602000													9	26					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74899185	74899185	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:74899185C>G	ENST00000372979.4	-	11	1509	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	ECD_ENST00000430082.2_Missense_Mutation_p.E468Q|ECD_ENST00000454759.2_Missense_Mutation_p.E392Q	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	435					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GACTCGGATTCTTTTTTGCCA	0.443000													5	78					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													5	53					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19258993	19258993	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:19258993C>G	ENST00000527884.1	-	4	551	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	E2F8_ENST00000250024.4_Missense_Mutation_p.E107Q|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	107					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGATTTCTCAAATTCATCT	0.353000													4	22					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068162	190068162	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:190068162C>T	ENST00000367462.3	-	8	1518	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	BRINP3_ENST00000534846.1_Silent_p.P327P	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	429																	CCTGGTCATTCGGACACGTGC	0.597000													24	36					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	70993114	70993114	+	Splice_Site	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:70993114G>T	ENST00000396396.1	+	2	490		c.e2-1		PGM5_ENST00000604870.2_Splice_Site|PGM5_ENST00000396392.1_Splice_Site	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5						cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GGATGGTTTAGATTGGACGAC	0.428000													9	65					1.08611e-07	1.1558e-07	1	1	0
KRT81	3887	broad.mit.edu	37	12	52680903	52680903	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:52680903C>T	ENST00000327741.5	-	7	1298	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	410	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCGCCCTCCAGCAGGCGCC	0.632000													8	147					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								16	44					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058009	27058009	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:27058009C>G	ENST00000324856.7	+	3	2088	c.1717C>G	c.(1717-1719)Ctc>Gtc	p.L573V	ARID1A_ENST00000374152.2_Missense_Mutation_p.L190V|ARID1A_ENST00000457599.2_Missense_Mutation_p.L573V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	573					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCTCGACGCTCTCCCAGCA	0.627000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								48	341					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44190896	44190896	+	Silent	SNP	C	C	T	rs138550222		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:44190896C>T	ENST00000291539.6	+	18	1734	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	PDE9A_ENST00000335512.4_Silent_p.D498D|PDE9A_ENST00000398229.3_Silent_p.D424D|PDE9A_ENST00000380328.2_Silent_p.D505D|PDE9A_ENST00000349112.3_Silent_p.D430D|PDE9A_ENST00000398232.3_Silent_p.D491D|PDE9A_ENST00000398236.3_Silent_p.D472D|PDE9A_ENST00000398234.3_Silent_p.D457D|PDE9A_ENST00000328862.6_Silent_p.D532D|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Silent_p.D517D|PDE9A_ENST00000398227.3_Silent_p.D398D|PDE9A_ENST00000398224.3_Silent_p.D431D|PDE9A_ENST00000539837.1_Silent_p.D430D|PDE9A_ENST00000335440.6_Silent_p.D456D	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	558					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GGATAGATGACGCCATGAAAG	0.582000													7	55					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718765	42718765	+	Missense_Mutation	SNP	C	C	T	rs34853905	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:42718765C>T	ENST00000230882.4	+	10	1346	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GHR_ENST00000537449.1_Missense_Mutation_p.R199C|GHR_ENST00000357703.3_Missense_Mutation_p.R364C|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	386					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CGACTCTGGACGTACCAGCTG	0.473000													8	135					0	0	1	0	0
RHEB	6009	broad.mit.edu	37	7	151174424	151174424	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:151174424G>C	ENST00000262187.5	-	4	682	c.270C>G	c.(268-270)atC>atG	p.I90M	RHEB_ENST00000496004.1_De_novo_Start_InFrame|RHEB_ENST00000472642.1_De_novo_Start_InFrame	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	90					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		CTTACCTTTTGATTGATGTAA	0.338000													5	93					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31995167	31995167	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:31995167G>A	ENST00000435363.2	+	21	2831	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q	C4B_ENST00000425700.2_Missense_Mutation_p.R916Q	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	916					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GTGGTGGCTCGAGGGTCCTTC	0.627000													12	46					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298033	197298033	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:197298033C>T	ENST00000260983.3	-	2	297	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCATGTTCTCTGGCATGGAG	0.602000													11	72					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678852	38678852	+	Silent	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:38678852T>C	ENST00000267377.2	+	3	875	c.258T>C	c.(256-258)taT>taC	p.Y86Y		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	86					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCCTGCGCTATGCCAAGATGA	0.552000													34	125					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	47					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755873	21755873	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:21755873A>G	ENST00000382254.1	-	14	2798	c.1712T>C	c.(1711-1713)aTa>aCa	p.I571T	CDH12_ENST00000504376.2_Missense_Mutation_p.I571T|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.I531T|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	571	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCTGTCTTCTATTACAACAGG	0.458000										HNSCC(59;0.17)			8	55					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5384695	5384695	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:5384695C>T	ENST00000158771.4	-	4	303	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	DERL2_ENST00000570848.1_Missense_Mutation_p.R83Q|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	83					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						TTCTAGCATTCGACAGTAACG	0.348000													7	54					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831611	72831611	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:72831611G>C	ENST00000268489.5	-	9	5642	c.4970C>G	c.(4969-4971)aCc>aGc	p.T1657S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T743S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1657					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGCCACTGGTGCTCACAGG	0.562000													8	111					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167273485	167273485	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:167273485C>G	ENST00000409855.1	-	20	3272	c.3146G>C	c.(3145-3147)aGa>aCa	p.R1049T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1049					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GATCAAAGCTCTCACAACCAC	0.328000													3	11					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:155247568C>G	ENST00000368358.3	+	1	195	c.187C>G	c.(187-189)Cgg>Ggg	p.R63G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622000													8	17					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661438	39661438	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:39661438A>C	ENST00000246635.3	-	1	411	c.365T>G	c.(364-366)gTg>gGg	p.V122G	KRT13_ENST00000587544.1_Missense_Mutation_p.V122G|KRT13_ENST00000336861.3_Missense_Mutation_p.V122G	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	122	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAGGGCGCGCACCTTCTCCAG	0.597000													12	169					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590388	156590388	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:156590388C>G	ENST00000302938.4	-	2	983	c.888G>C	c.(886-888)atG>atC	p.M296I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	296	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTATGCTCATAGCACCTG	0.532000													26	113					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78205311	78205311	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:78205311C>G	ENST00000261531.7	-	4	486	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.E142Q	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	142					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCAGTTACCTCTTTAATAGCT	0.363000													44	237					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41							calcium ion binding	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607000													14	79					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041433	107041433	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:107041433G>A	ENST00000409886.3	-	20	3077	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S997L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	997					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCAGCACCTGAAAATCCCTT	0.378000													6	239					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941026	27941026	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:27941026G>T	ENST00000374005.3	-	11	1452	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	FGR_ENST00000545953.1_Silent_p.I322I|FGR_ENST00000374004.1_Silent_p.I388I|FGR_ENST00000399173.1_Silent_p.I388I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	388	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCAACCAGGATGTTGGCTG	0.592000													4	41					0.00024832	0.000256927	1	1	0
USP21	27005	broad.mit.edu	37	1	161134643	161134643	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:161134643C>T	ENST00000368002.3	+	12	1780	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	USP21_ENST00000289865.8_Missense_Mutation_p.A468V|USP21_ENST00000368001.1_Missense_Mutation_p.A468V|USP21_ENST00000493054.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	468					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGATTTTCTGCCTCCCGAGGC	0.522000													7	144					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56880102	56880102	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:56880102C>T	ENST00000370746.3	+	4	739	c.470C>T	c.(469-471)tCa>tTa	p.S157L	BEND6_ENST00000545789.1_Missense_Mutation_p.S59L|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	157										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACTCCAGTTCACCAGTTTCC	0.413000													15	78					0	0	1	0	0
ARF4	378	broad.mit.edu	37	3	57561323	57561323	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:57561323G>T	ENST00000303436.6	-	5	675	c.408C>A	c.(406-408)atC>atA	p.I136I	ARF4_ENST00000489843.1_Silent_p.I27I|ARF4_ENST00000496292.1_Silent_p.I109I	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	136					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TCATTTCACTGATGGCCATAG	0.383000													7	51					0.27861	0.279078	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65793037	65793037	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65793037G>A	ENST00000312106.5	-	1	951	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	272	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ctggggtggtgatcaccttgg	0.567000													4	10					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95906274	95906274	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:95906274C>T	ENST00000334258.5	-	11	2064	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	SYNE3_ENST00000554873.1_Missense_Mutation_p.E441K|SYNE3_ENST00000557275.1_Missense_Mutation_p.E684K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCTTGGGACTCGGCATCCCCC	0.627000													8	95					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570331	136570331	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:136570331C>T	ENST00000264162.2	-	7	1913	c.1903G>A	c.(1903-1905)Gtc>Atc	p.V635I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	635	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCACAAAGACGGGGTGTGCA	0.577000													4	81					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10090763	10090763	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:10090763G>C	ENST00000380861.4	+	12	2126	c.1735G>C	c.(1735-1737)Gaa>Caa	p.E579Q	WWC3_ENST00000454666.1_Missense_Mutation_p.E579Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	579										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGGGGTGTTTGAACCTCTAAC	0.493000													17	204					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38260660	38260660	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:38260660G>T	ENST00000039007.4	+	5	671	c.519G>T	c.(517-519)ctG>ctT	p.L173L	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	173					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TCCAGATCCTGGCTGATTACC	0.383000													4	39					2.56e-06	2.67657e-06	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19997162	19997162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:19997162G>A	ENST00000391403.2	-	1	716	c.613C>T	c.(613-615)Caa>Taa	p.Q205*		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	205						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCACTCACTTGTTCTTTCCAT	0.353000													12	72					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980429	75980429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:75980429C>T	ENST00000308508.5	-	3	3069	c.2977G>A	c.(2977-2979)Gag>Aag	p.E993K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	993	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCACTGCTCTCGCCCTGGCGG	0.592000													12	128					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388246	50388246	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:50388246G>C	ENST00000434422.1	-	12	1392	c.1091C>G	c.(1090-1092)tCc>tGc	p.S364C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.S364C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.S364C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S364C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.S364C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S364C			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	364	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CACAACAATGGAGGGGATCAT	0.393000													5	77					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023689	28023689	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:28023689G>A	ENST00000375790.5	-	5	966	c.534C>T	c.(532-534)aaC>aaT	p.N178N	MKX_ENST00000419761.1_Silent_p.N178N			Q8IYA7	MKX_HUMAN	mohawk homeobox	178					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGCCCCCTTCGTTCATGTGGG	0.478000													7	74					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445521	49445521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:49445521C>A	ENST00000301067.7	-	10	1944	c.1945G>T	c.(1945-1947)Gag>Tag	p.E649*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGCGATACCTCAGGTGGGGGG	0.642000													8	84					9.70103e-10	1.0454e-09	1	1	0
SAMD13	148418	broad.mit.edu	37	1	84815348	84815348	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:84815348G>C	ENST00000370673.3	+	4	434	c.242G>C	c.(241-243)aGa>aCa	p.R81T	SAMD13_ENST00000370667.3_Missense_Mutation_p.R57T|SAMD13_ENST00000370668.3_Missense_Mutation_p.R67T|SAMD13_ENST00000394834.3_Missense_Mutation_p.R67T|SAMD13_ENST00000370669.1_Missense_Mutation_p.R67T|RP11-376N17.4_ENST00000505585.1_RNA|SAMD13_ENST00000370670.2_Missense_Mutation_p.R67T|SAMD13_ENST00000370671.3_Missense_Mutation_p.R87T	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	87	SAM.									lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TTGATGACAAGAAATGATGTG	0.373000													11	108					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56151374	56151374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:56151374C>A	ENST00000452681.2	-	6	597	c.448G>T	c.(448-450)Gag>Tag	p.E150*	PHKG1_ENST00000537360.1_Nonsense_Mutation_p.E64*|PHKG1_ENST00000297373.2_Nonsense_Mutation_p.E118*	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	118	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGACCTTCTCAGTGAGGTAG	0.577000													3	4					0.00024832	0.000256927	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121438570	121438570	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:121438570C>G	ENST00000393667.3	-	7	804	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E227Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	227					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTTGTGTTTCAAAGCGGGCA	0.453000													9	82					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132404198	132404198	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:132404198G>T	ENST00000450050.2	-	1	227	c.26C>A	c.(25-27)tCc>tAc	p.S9Y	ASB6_ENST00000277458.4_Silent_p.I27I|ASB6_ENST00000277459.4_Silent_p.I27I			Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	0					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CGGGGTCCTGGATCCCCAGGG	0.687000													4	42					0.00909568	0.0092349	1	1	0
MOG	4340	broad.mit.edu	37	6	29638643	29638643	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:29638643C>T	ENST00000376894.4	+	7	993	c.875C>T	c.(874-876)cCt>cTt	p.P292L	MOG_ENST00000376891.4_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000431798.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	0					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGAAGACTCCTCCTGGGAGG	0.552000													3	10					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111506249	111506249	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:111506249G>C	ENST00000369763.4	-	1	452	c.62C>G	c.(61-63)tCg>tGg	p.S21W	LRIF1_ENST00000485275.2_5'UTR|RP11-96K19.5_ENST00000609118.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTACCAACGCGAGGCGTTGCC	0.547000											OREG0013667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44559666	44559666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:44559666C>T	ENST00000541738.1	-	8	1404	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	PREPL_ENST00000409957.1_Missense_Mutation_p.E340K|PREPL_ENST00000378520.3_Intron|PREPL_ENST00000409936.1_Missense_Mutation_p.E429K|PREPL_ENST00000378511.3_Missense_Mutation_p.E367K|PREPL_ENST00000409411.1_Missense_Mutation_p.E340K|PREPL_ENST00000260648.6_Missense_Mutation_p.E429K|PREPL_ENST00000409272.1_Missense_Mutation_p.E429K|PREPL_ENST00000410081.1_Missense_Mutation_p.E429K	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	429					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCAGTTTCCTCAAACAGTTTG	0.428000													12	54					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46765597	46765597	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:46765597C>T	ENST00000529230.1	-	44	6121	c.6075G>A	c.(6073-6075)gaG>gaA	p.E2025E	CKAP5_ENST00000354558.3_Silent_p.E1965E|CKAP5_ENST00000312055.5_Silent_p.E1965E|CKAP5_ENST00000415402.1_Silent_p.E2032E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2025					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTTTATTCTCTCCAGTCTTT	0.473000													10	66					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809260	31809260	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:31809260G>C	ENST00000446923.2	+	7	1340	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ZEB1_ENST00000320985.10_Missense_Mutation_p.E333Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.E266Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.E334Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.E313Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	333					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAAAAGATAGAGAATAAACC	0.438000													11	57					0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120641	72120641	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:72120641C>G	ENST00000268483.3	-	4	666	c.345G>C	c.(343-345)ttG>ttC	p.L115F	TXNL4B_ENST00000423037.1_Missense_Mutation_p.L115F|RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Missense_Mutation_p.L115F	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	115					mitosis|mRNA processing|RNA splicing	spliceosomal complex		p.L115F(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TTACTTCAATCAAATCTATGA	0.383000													14	44					0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19443286	19443286	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr22:19443286G>C	ENST00000263202.10	-	10	813	c.684C>G	c.(682-684)ttC>ttG	p.F228L	UFD1L_ENST00000360834.4_Missense_Mutation_p.F217L|UFD1L_ENST00000399523.1_Missense_Mutation_p.F228L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CAGATCCAGAGAAAGCCTAGA	0.502000													44	235					0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137019624	137019624	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:137019624C>A	ENST00000358625.3	+	10	839	c.668C>A	c.(667-669)tCc>tAc	p.S223Y	WDR5_ENST00000425041.1_Missense_Mutation_p.S223Y	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	223					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GTGAAGTTCTCCCCGAACGGC	0.622000													30	343					1.61788e-16	1.77225e-16	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62284982	62284982	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:62284982T>G	ENST00000378024.4	-	5	17181	c.16907A>C	c.(16906-16908)cAg>cCg	p.Q5636P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5636	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCAGGAGCCTGGAGTCCAAT	0.488000													41	135					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365657	46365657	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:46365657G>A	ENST00000359930.4	-	3	1056	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	SULF2_ENST00000361612.4_Missense_Mutation_p.R69C|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.R69C|SULF2_ENST00000484875.1_Missense_Mutation_p.R69C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	69					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCATGATGCGCCGGGTCTTG	0.637000													37	68					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212613	60212613	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:60212613C>G	ENST00000267484.5	-	2	1163	c.828G>C	c.(826-828)caG>caC	p.Q276H		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	276					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGTGGTGATCTGAGGAGCCC	0.448000													20	86					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008309	73008309	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:73008309G>C	ENST00000313375.3	-	17	2492	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	MLXIPL_ENST00000429400.2_Silent_p.V796V|MLXIPL_ENST00000395189.1_Silent_p.V722V|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000414749.2_Silent_p.V813V|MLXIPL_ENST00000354613.1_Silent_p.V794V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	815					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGAGTTCAGGACAGCTGGGT	0.602000													4	52					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507691	145507691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:145507691G>A	ENST00000330165.8	+	1	94	c.25G>A	c.(25-27)Gag>Aag	p.E9K	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.E9K|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATCTTCACGAGGCTGGGGG	0.587000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	220022268	220022268	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:220022268G>A	ENST00000356853.5	-	3	449	c.316C>T	c.(316-318)Cta>Tta	p.L106L	NHEJ1_ENST00000409720.1_Silent_p.L106L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	106					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CGCACCCGTAGAATCAGTGCA	0.507000								Non-homologous end-joining					6	44					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4359188	4359188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:4359188C>T	ENST00000599840.1	+	12	1390	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	MPND_ENST00000359935.4_Missense_Mutation_p.S402F|MPND_ENST00000262966.8_Missense_Mutation_p.S422F			Q8N594	MPND_HUMAN	MPN domain containing	422							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAAGGGTTCCCCTGACCTC	0.617000													12	70					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184858	118184858	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:118184858C>G	ENST00000427715.2	+	11	1335	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	SLC30A8_ENST00000521243.1_Missense_Mutation_p.Q301E|SLC30A8_ENST00000456015.2_Missense_Mutation_p.Q350E|SLC30A8_ENST00000519688.1_Missense_Mutation_p.Q301E	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	350					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACTCACCATTCAGATGGAATC	0.502000													54	143					0	0	1	0	0
ACOT13	55856	broad.mit.edu	37	6	24667474	24667474	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:24667474G>A	ENST00000230048.4	+	0	176				ACOT13_ENST00000537591.1_De_novo_Start_InFrame	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13						protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						AAGCCCAAAGGCTGGAAAACC	0.522000											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090467	9090467	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:9090467C>T	ENST00000397910.4	-	1	1551	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	450	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						GCAGTCATTTCGGACTCTTCT	0.488000													9	179					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155237823	155237823	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:155237823C>G	ENST00000368361.4	-	6	964	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	CLK2_ENST00000361168.5_Missense_Mutation_p.E216Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.E217Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E215Q			P49760	CLK2_HUMAN	CDC-like kinase 2	217	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGTCTTTCTCATTGATTTTC	0.488000								Other conserved DNA damage response genes					25	80					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405188	70405188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:70405188C>T	ENST00000373644.4	+	4	2911	c.2702C>T	c.(2701-2703)tCa>tTa	p.S901L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	901					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTCAACTCTCAGAAGCCCCA	0.453000													17	201					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:25978935C>G	ENST00000435504.4	-	10	1281	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.E70Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E302Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E70Q(1)|p.E330Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448000													22	90					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74655086	74655086	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:74655086A>T	ENST00000287936.4	+	17	2405	c.2249A>T	c.(2248-2250)aAc>aTc	p.N750I	HMGCR_ENST00000511206.1_Missense_Mutation_p.N750I|HMGCR_ENST00000343975.5_Missense_Mutation_p.N697I	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	750	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GGAGGCTACAACGCCCATGCA	0.473000													10	36					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12545138	12545138	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:12545138T>A	ENST00000444864.1	+	5	1073	c.686T>A	c.(685-687)aTc>aAc	p.I229N	TSEN2_ENST00000284995.6_Missense_Mutation_p.I229N|TSEN2_ENST00000402228.3_Missense_Mutation_p.I229N|TSEN2_ENST00000314571.7_Missense_Mutation_p.I229N|TSEN2_ENST00000454502.2_Intron|TSEN2_ENST00000415684.1_Missense_Mutation_p.I229N|TSEN2_ENST00000383797.5_Missense_Mutation_p.I229N	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	229					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GATGCTCTCATCCTCCAGCGT	0.582000													10	45					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34129870	34129870	+	Missense_Mutation	SNP	G	G	T	rs139367378	by1000genomes	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:34129870G>T	ENST00000257829.3	+	2	304	c.98G>T	c.(97-99)gGa>gTa	p.G33V	NAT10_ENST00000527971.1_Missense_Mutation_p.G33V|NAT10_ENST00000531159.2_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	33						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGGGATCGAGGAAAAGATCAG	0.428000													22	53					1.28384e-07	1.36379e-07	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14799103	14799103	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:14799103C>T	ENST00000358984.4	+	21	2213	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	729										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTTTTAGAGTCTCCTGATAAT	0.284000													6	65					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19420619	19420619	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:19420619C>T	ENST00000375267.2	-	95	13764	c.13761G>A	c.(13759-13761)ctG>ctA	p.L4587L	UBR4_ENST00000375254.3_Silent_p.L4587L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Silent_p.L251L|UBR4_ENST00000375217.2_Silent_p.L4580L|UBR4_ENST00000375226.2_Silent_p.L4563L|UBR4_ENST00000375224.1_Silent_p.L294L|UBR4_ENST00000429347.2_Silent_p.L110L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4587					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)		TGTCACCTGTCAGGAGGAGGT	0.537000													4	21					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618202	37618202	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:37618202G>A	ENST00000337995.3	+	5	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	ZNF420_ENST00000304239.7_Silent_p.Q103Q|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAAAATCAGAAGGAATATT	0.378000													4	69					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4111258	4111258	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:4111258G>A	ENST00000341657.4	-	6	737	c.702C>T	c.(700-702)gtC>gtT	p.V234V	ANKFY1_ENST00000570535.1_Silent_p.V276V|ANKFY1_ENST00000574367.1_Silent_p.V234V|ANKFY1_ENST00000433651.1_Silent_p.V234V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	234						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GATACAGGAAGACCACGTCTT	0.428000													11	102					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136918567	136918567	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:136918567C>T	ENST00000303407.7	-	2	218	c.33G>A	c.(31-33)ggG>ggA	p.G11G	BRD3_ENST00000371834.2_Silent_p.G11G|BRD3_ENST00000357885.2_Silent_p.G11G	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	11						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TCGCCGGGATCCCCGCGGGGG	0.677000			T	C15orf55	lethal midline carcinoma of young people								9	40					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392923	1392923	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:1392923A>T	ENST00000324385.5	+	14	1434	c.1276A>T	c.(1276-1278)Agc>Tgc	p.S426C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.S355C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S408C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S368C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S363C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S408C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S391C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	426					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCAACTCCAGCAGCTGGCG	0.677000													7	61					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826338	102826338	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:102826338C>T	ENST00000260302.3	-	1	125	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MMP13_ENST00000340273.4_Missense_Mutation_p.E33K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	33					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.E33K(1)		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)		AGGTCTTCCTCAGACAAATCA	0.498000													29	69					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670235	95670235	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:95670235G>A	ENST00000298912.4	-	9	1564	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	484						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTCAGAGGAGGATTCTGGAAT	0.468000													3	32					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40857231	40857231	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:40857231T>C	ENST00000255224.3	-	1	384	c.16A>G	c.(16-18)Acc>Gcc	p.T6A	SYT4_ENST00000590752.1_Missense_Mutation_p.T6A|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	6						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCCGGCTGGTGGTGATCGGA	0.483000													13	50					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049666	58049666	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:58049666C>G	ENST00000376233.3	+	4	1475	c.1294C>G	c.(1294-1296)Ctt>Gtt	p.L432V	ZNF549_ENST00000240719.3_Missense_Mutation_p.L419V|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAAAAAGACTTCTTGAGCA	0.428000													4	68					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18961517	18961517	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:18961517G>A	ENST00000262803.5	+	5	922	c.650G>A	c.(649-651)aGc>aAc	p.S217N	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.S217N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	217	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCAGCCAGAGCAGCCTCAAG	0.682000													6	27					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12780892	12780892	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:12780892G>C	ENST00000418543.3	+	4	554	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	WDR83_ENST00000242796.4_Missense_Mutation_p.E69Q|WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000600694.1_Intron	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	69					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CCACGGCTACGAGGTGCTGGA	0.652000													6	113					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003648	14003648	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:14003648C>G	ENST00000454313.1	-	5	402	c.344G>C	c.(343-345)aGa>aCa	p.R115T	C19orf57_ENST00000591586.1_Missense_Mutation_p.R115T|C19orf57_ENST00000346736.2_Missense_Mutation_p.R115T|C19orf57_ENST00000586783.1_Missense_Mutation_p.R115T			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	115					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTCTTCTTTTCTTGTCACTGT	0.498000													8	52					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917568	186917568	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:186917568G>A	ENST00000312295.4	+	2	532	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	168					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGCTACGGCGAGCGTGGCGG	0.692000													10	58					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775081	77775081	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:77775081G>A	ENST00000281030.2	+	1	175	c.154G>A	c.(154-156)Gag>Aag	p.E52K	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	52					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GGCCCAGGCTGAGGCCCCTGA	0.647000													12	153					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30847245	30847245	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:30847245C>G	ENST00000383096.3	-	13	1375	c.1193G>C	c.(1192-1194)aGa>aCa	p.R398T	CCDC178_ENST00000403303.1_Missense_Mutation_p.R398T|CCDC178_ENST00000402325.1_Missense_Mutation_p.R398T|CCDC178_ENST00000300227.8_Missense_Mutation_p.R398T|CCDC178_ENST00000406524.2_Missense_Mutation_p.R398T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.R398T|CCDC178_ENST00000579947.1_Missense_Mutation_p.R398T					coiled-coil domain containing 178																		GTCATAAACTCTTCTCAAATC	0.303000													10	56					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22275493	22275493	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:22275493G>C	ENST00000382353.5	+	3	1076	c.546G>C	c.(544-546)caG>caC	p.Q182H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	182					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AACGGCACCAGAAATTCACAC	0.423000													18	70					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575509	19575509	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:19575509C>T	ENST00000328405.2	+	16	3508	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1081						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCATCAGCTTCTACAAAACCT	0.453000													7	38					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434355	62434355	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:62434355G>C	ENST00000532971.1	+	3	812	c.555G>C	c.(553-555)ttG>ttC	p.L185F	C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000532208.1_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	185						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CAGAATGCTTGAGGGTTCTAA	0.547000													3	63					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397448	56397448	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:56397448C>A	ENST00000394109.3	+	3	999	c.275C>A	c.(274-276)tCc>tAc	p.S92Y	SUOX_ENST00000394115.2_Missense_Mutation_p.S92Y|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.S92Y|SUOX_ENST00000266971.3_Missense_Mutation_p.S92Y|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.S92Y			P51687	SUOX_HUMAN	sulfite oxidase	92	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAAGTGAGTTCCCACACCAGC	0.488000													4	83					0.150653	0.15116	1	1	0
SI	6476	broad.mit.edu	37	3	164727117	164727117	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:164727117C>G	ENST00000264382.3	-	35	4191	c.4129G>C	c.(4129-4131)Gaa>Caa	p.E1377Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1377	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCACAATTTCTCTGGCCCAC	0.383000										HNSCC(35;0.089)			8	51					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71136783	71136783	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:71136783G>A	ENST00000448642.2	+	13	1463	c.1074G>A	c.(1072-1074)cgG>cgA	p.R358R	HK1_ENST00000359426.6_Silent_p.R323R|HK1_ENST00000360289.2_Silent_p.R311R|HK1_ENST00000404387.2_Silent_p.R327R|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.R322R			P19367	HXK1_HUMAN	hexokinase 1	323	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TTGAAGGGCGGATCACCCCGG	0.532000													14	132					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654834	19654834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:19654834C>G	ENST00000586018.1	+	8	1600	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	CILP2_ENST00000291495.5_Missense_Mutation_p.L494V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	494						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAGGATTCTGCTGGGCCA	0.672000													11	59					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241676987	241676987	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:241676987G>C	ENST00000366560.3	-	3	332	c.294C>G	c.(292-294)atC>atG	p.I98M	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	98					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTCGCTTCAAGATGCCAAAAG	0.363000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				24	69					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383191	41383191	+	Silent	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:41383191C>A	ENST00000301146.4	-	7	1606	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.V304V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	355						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTCGTGGATCACTGCCTCCA	0.537000													8	119					2.80697e-09	3.01396e-09	1	1	0
CEPT1	10390	broad.mit.edu	37	1	111690493	111690493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:111690493G>T	ENST00000545121.1	+	2	365	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E53*	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	53						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GCGGCTAGAAGAACACAGATA	0.458000													33	85					6.50621e-10	7.02389e-10	1	1	0
CCDC69	26112	broad.mit.edu	37	5	150578617	150578617	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:150578617C>G	ENST00000355417.2	-	4	434	c.260G>C	c.(259-261)cGa>cCa	p.R87P	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	87										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCTGTCTCGAAGCTCTAG	0.567000													14	137					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170634240	170634240	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:170634240G>T	ENST00000513761.1	+	12	2719	c.2160G>T	c.(2158-2160)agG>agT	p.R720S	CLCN3_ENST00000347613.4_Missense_Mutation_p.R720S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R703S|CLCN3_ENST00000360642.3_Missense_Mutation_p.R693S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	720	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAAGTGCCAGGAAAAAACAAG	0.403000													6	24					0.00198382	0.00202798	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160914961	160914961	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:160914961G>A	ENST00000368029.3	-	8	1004	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	316					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCGCCTCCGTTATCTCCCG	0.542000													4	63					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700285	17700285	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:17700285C>G	ENST00000353383.1	+	3	4492	c.4023C>G	c.(4021-4023)ctC>ctG	p.L1341L	RAI1_ENST00000261641.6_Silent_p.L1341L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1341						cytoplasm|nucleus	zinc ion binding	p.L1341L(1)		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)		CGCCCAGCCTCAAGAAGTTCG	0.632000													23	113					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439361	99439361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:99439361C>T	ENST00000397899.2	-	7	1706	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_207362.2	NP_997245.2			KIAA1211-like																		CTCTCGGGCTCAGGCGCCGGC	0.741000													4	29					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39914664	39914664	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:39914664G>A	ENST00000342274.4	-	12	4958	c.4596C>T	c.(4594-4596)atC>atT	p.I1532I	BCOR_ENST00000378463.1_Silent_p.I409I|BCOR_ENST00000378444.4_Silent_p.I1566I|BCOR_ENST00000378455.4_Silent_p.I1514I|BCOR_ENST00000397354.3_Silent_p.I1532I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1566					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCATTTTCATGATGGTTCTAC	0.403000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	21					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234556	155234556	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:155234556C>G	ENST00000368361.4	-	9	1258	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	CLK2_ENST00000361168.5_Missense_Mutation_p.E314Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.E315Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E313Q			P49760	CLK2_HUMAN	CDC-like kinase 2	315	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACACTGCGCTCATCTCGCTTC	0.512000								Other conserved DNA damage response genes					13	29					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112607445	112607445	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:112607445C>T	ENST00000550722.1	-	70	12027	c.11632G>A	c.(11632-11634)Gaa>Aaa	p.E3878K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E3852K|HECTD4_ENST00000430131.2_Missense_Mutation_p.E3602K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TAGGAGTTTTCAGAAGCTCTG	0.607000													8	65					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749191	62749191	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:62749191G>A	ENST00000280377.5	+	8	908	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	USP15_ENST00000353364.3_Missense_Mutation_p.E255K|USP15_ENST00000393654.3_Missense_Mutation_p.E259K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	284					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAGAAACAATGAACAGCCAGG	0.363000													8	35					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251408	35251408	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:35251408C>T	ENST00000329285.8	-	4	671	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAGGATTCCTCAGAGAAGGCC	0.423000													5	67					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788831	5788831	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:5788831C>T	ENST00000328090.5	+	15	4072	c.3447C>T	c.(3445-3447)gtC>gtT	p.V1149V		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1149																	CCCTTCCAGTCTCTCTACCAT	0.453000													34	162					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57710202	57710202	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:57710202C>G	ENST00000333493.4	+	3	458	c.297C>G	c.(295-297)ctC>ctG	p.L99L	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	99					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						TCCAGAACCTCAGCACCAACA	0.522000													5	95					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995818	143995818	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:143995818C>G	ENST00000323110.2	-	5	818	c.816G>C	c.(814-816)caG>caC	p.Q272H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	272					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGTAGATTTTCTGGATACAGT	0.572000									Familial Hyperaldosteronism type I				5	35					0	0	1	0	0
C1orf21	81563	broad.mit.edu	37	1	184476748	184476748	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:184476748G>C	ENST00000235307.6	+	3	556	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	41										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		ACCAGTGGAAGAGGTCAAATA	0.348000													22	26					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71581315	71581315	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:71581315C>A	ENST00000276590.4	-	1	77	c.41G>T	c.(40-42)cGa>cTa	p.R14L	LACTB2_ENST00000522447.1_Missense_Mutation_p.R14L	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	14							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACGCACGACTCGATTGGACAG	0.647000											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0.150653	0.15116	1	1	0
JUP	3728	broad.mit.edu	37	17	39928064	39928064	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:39928064C>T	ENST00000393931.3	-	2	161	c.43G>A	c.(43-45)Gag>Aag	p.E15K	JUP_ENST00000540235.1_Missense_Mutation_p.E15K|JUP_ENST00000310706.5_Missense_Mutation_p.E15K|JUP_ENST00000393930.1_Missense_Mutation_p.E15K	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	15					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCTGCCACTCAGTCACCTTG	0.597000													9	29					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2451387	2451387	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:2451387C>G	ENST00000378466.3	-	6	718	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PANK4_ENST00000435556.3_Missense_Mutation_p.D197H	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	236					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGAGCTCGTCAAACTTCTGC	0.687000													3	3					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61113094	61113094	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:61113094C>T	ENST00000247182.6	-	2	1034	c.762G>A	c.(760-762)tcG>tcA	p.S254S	SIX1_ENST00000554986.1_Silent_p.S81S	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	254					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GACTGGGCTGCGAGGCTGTTA	0.612000													16	55					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68954630	68954630	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:68954630C>T	ENST00000456315.2	-	4	673	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	DEPDC1_ENST00000370966.5_Missense_Mutation_p.E187K	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	187					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAAACTTCTTCAACATCTTCC	0.289000													4	52					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623662	28623662	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:28623662C>T	ENST00000380982.4	-	8	976	c.895G>A	c.(895-897)Gag>Aag	p.E299K	FLT3_ENST00000537084.1_Missense_Mutation_p.E299K|FLT3_ENST00000241453.7_Missense_Mutation_p.E299K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	299	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTACTCATCTCAAAGTAGTTG	0.353000			"""Mis, O"""		"""AML, ALL"""								27	81					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733280	56733280	+	Silent	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:56733280T>C	ENST00000587340.1	-	7	1850	c.1155A>G	c.(1153-1155)caA>caG	p.Q385Q	ZSCAN5A_ENST00000254165.3_Silent_p.Q268Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q385Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q384Q|ZSCAN5A_ENST00000587492.1_Silent_p.Q239Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	385					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAGATTACATTGAAAGAGTC	0.517000													3	32					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278286	114278286	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:114278286G>C	ENST00000357077.4	+	38	8565	c.8512G>C	c.(8512-8514)Gat>Cat	p.D2838H	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2805H|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2805					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCACAAGCAGATTGCCCCAG	0.408000													10	104					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862088	122862088	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:122862088G>C	ENST00000358808.2	-	3	659	c.505C>G	c.(505-507)Cag>Gag	p.Q169E	CLIP1_ENST00000361654.4_Missense_Mutation_p.Q169E|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q169E|CLIP1_ENST00000540338.1_Missense_Mutation_p.Q169E|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q169E	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	169	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GATGGTTTCTGAGGGATGTTT	0.557000													6	158					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98311803	98311803	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:98311803C>T	ENST00000264193.2	-	1	764	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	182						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTCCTTCCTCTCCCACCGGT	0.562000													4	18					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11597896	11597896	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:11597896C>G	ENST00000293771.5	-	5	1385	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCTGCGCTCTCAGGCACCGTT	0.602000													36	123					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117332	96117332	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:96117332C>T	ENST00000278520.5	-	3	1008	c.580G>A	c.(580-582)Gag>Aag	p.E194K	CCDC82_ENST00000542662.1_Missense_Mutation_p.E194K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E194K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	194							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCATCACTCTCATCACTGTCA	0.403000													6	133					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923012	35923012	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:35923012G>C	ENST00000490799.1	-	17	2502	c.2149C>G	c.(2149-2151)Cta>Gta	p.L717V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.L717V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.L612V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	717	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGGCAGTAGAGACGCATCT	0.507000													15	69					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13216373	13216373	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:13216373C>T	ENST00000592062.1	-	16	2201	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	TRMT1_ENST00000221504.8_Missense_Mutation_p.R515Q|TRMT1_ENST00000357720.4_Missense_Mutation_p.R544Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.R544Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	544							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TCCTCGCTGTCGGGAGCTGGG	0.682000													26	130					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67428779	67428779	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:67428779G>A	ENST00000348579.2	-	11	1589	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A	ZDHHC1_ENST00000566075.1_5'UTR	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	416						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTGGAGCGGCGGCTGGGGGCC	0.711000													5	15					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73735301	73735301	+	Silent	SNP	C	C	T	rs141113206		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:73735301C>T	ENST00000427855.1	+	26	3639	c.3537C>T	c.(3535-3537)gtC>gtT	p.V1179V	PAPLN_ENST00000340738.5_Silent_p.V1152V|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Silent_p.V1163V|PAPLN_ENST00000554301.1_Silent_p.V1179V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1179	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCACCGTGTCCACCAGTCCC	0.627000													17	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614579	179614579	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:179614579G>A	ENST00000360870.5	-	46	12770	c.12548C>T	c.(12547-12549)tCt>tTt	p.S4183F	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3527							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)			GGGCTCACCAGATATTAAACA	0.378000													5	50					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209056	140209056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:140209056C>A	ENST00000529310.1	+	1	1494	c.1380C>A	c.(1378-1380)taC>taA	p.Y460*	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Nonsense_Mutation_p.Y460*|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGAGTACACAGTGTTCG	0.662000													26	121					1.33986e-20	1.4704e-20	1	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65347661	65347661	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65347661C>T	ENST00000309295.4	+	5	687	c.422C>T	c.(421-423)tCa>tTa	p.S141L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	141										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AAGCCAAAGTCAGTGAAGGTG	0.677000													13	49					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916422	173916422	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:173916422G>A	ENST00000264111.6	+	31	3147	c.2960G>A	c.(2959-2961)cGg>cAg	p.R987Q	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R920Q|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R768Q|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R988Q|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R835Q|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R844Q|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R817Q|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R835Q			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	988	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGTTATGTACGGCAATTAAAT	0.408000													4	51					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35635874	35635874	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:35635874T>C	ENST00000373664.3	-	20	2877	c.2811A>G	c.(2809-2811)atA>atG	p.I937M	RBL1_ENST00000344359.3_Missense_Mutation_p.I937M	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	937	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCCTACATATATTGTATTGT	0.343000													5	47					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981525	64981525	+	RNA	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:64981525C>G	ENST00000525437.1	+	0	215							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ACTGAGGCCTCCACCAACGAC	0.706000													5	10					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57786743	57786743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:57786743C>G	ENST00000379661.3	+	10	1150	c.758C>G	c.(757-759)tCa>tGa	p.S253*		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	253	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)				TGCCAGGACTCACTGCGTGTC	0.642000													5	14					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318616	50318616	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:50318616C>T	ENST00000404971.1	-	20	5022	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	NRXN1_ENST00000401669.2_Missense_Mutation_p.G1188E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1180E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1180E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1188E|NRXN1_ENST00000342183.5_Missense_Mutation_p.G153E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1188E|NRXN1_ENST00000401710.1_Missense_Mutation_p.G206E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1188	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1229V(1)|p.G153V(1)|p.G1228V(1)|p.G1188V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAACTTAACTCCAATTTTTCC	0.363000													6	69					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492595	62492595	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:62492595C>G	ENST00000539111.2	-	1	559	c.492G>C	c.(490-492)aaG>aaC	p.K164N		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	164					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTAGCTGTTCCTTACTCAGCT	0.453000													17	104					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288068	7288068	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:7288068T>A	ENST00000537408.1	+	3	1103	c.565T>A	c.(565-567)Tac>Aac	p.Y189N	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Y177N			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	177	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCCCCCCAGTACAGCCAGAT	0.572000													26	143					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35705821	35705821	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:35705821C>G	ENST00000314888.9	-	42	5892	c.5539G>C	c.(5539-5541)Gaa>Caa	p.E1847Q	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.E1781Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1847	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAGGAACCTTCTGGTTCACCC	0.557000													24	74					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489209	108489209	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:108489209T>G	ENST00000408999.3	+	20	4826	c.4749T>G	c.(4747-4749)agT>agG	p.S1583R	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1583R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1583					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTAACAACAGTGAAACTAGTT	0.368000													53	292					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11547453	11547453	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:11547453C>T	ENST00000389362.4	-	2	111	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Missense_Mutation_p.E26K	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATTCTTCCTGGCTGACA	0.428000													10	271					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87183161	87183161	+	Silent	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:87183161C>A	ENST00000265724.3	-	10	1332	c.915G>T	c.(913-915)ctG>ctT	p.L305L	ABCB1_ENST00000543898.1_Silent_p.L241L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	305	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGCATAGATCAGCAGGAAAG	0.388000													28	95					1.68575e-08	1.80358e-08	1	1	0
ITCH	83737	broad.mit.edu	37	20	33059275	33059275	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:33059275G>C	ENST00000374864.4	+	16	1737	c.1524G>C	c.(1522-1524)aaG>aaC	p.K508N	ITCH_ENST00000262650.6_Missense_Mutation_p.K549N|ITCH_ENST00000535650.1_Missense_Mutation_p.K398N|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	549	WW 4.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACATAAAGATTACAGTGA	0.388000													4	37					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115788	145115788	+	RNA	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:145115788G>T	ENST00000453618.1	+	0	874							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATACCGCCAGGATGCGAAGTA	0.403000													15	126					0.0285812	0.0288714	1	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612104	44612104	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:44612104G>A	ENST00000273320.3	+	6	1931	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G501E|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		AATGAGTGTGGAGAGGCATTC	0.453000													13	170					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286183	1286183	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:1286183G>C	ENST00000381867.1	+	7	1744	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	SNPH_ENST00000381873.3_Missense_Mutation_p.D324H			O15079	SNPH_HUMAN	syntaphilin	324					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTACCAGCCTGACCTTGACAC	0.607000													7	112					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45152330	45152330	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:45152330G>A	ENST00000327574.4	+	2	422	c.72G>A	c.(70-72)gtG>gtA	p.V24V	PDXK_ENST00000398081.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	205					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TGGGGTGTGTGAAACGGAGAT	0.507000													12	113					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153172076	153172076	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:153172076G>A	ENST00000358927.2	+	4	1219	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.R337Q			P30518	V2R_HUMAN	arginine vasopressin receptor 2	337					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCAGAGCTGCGAAGCTTGCTC	0.627000													29	90					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639064	6639064	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:6639064C>G	ENST00000315579.5	+	29	4576	c.3777C>G	c.(3775-3777)atC>atG	p.I1259M	NCAPD2_ENST00000545962.1_Missense_Mutation_p.I1214M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1259					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATGAGTCCATCTTCAGTGCTT	0.527000													61	59					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300753	62300753	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:62300753G>A	ENST00000378024.4	-	5	1410	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	379					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCCTCAAGTGATGGCCCAGT	0.592000													7	68					0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140187878	140187878	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:140187878C>G	ENST00000398955.1	-	4	777	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	200						integral to membrane											TCAGAGGTTTCGTTCTTTGTT	0.448000													15	151					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294447	124294447	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:124294447G>C	ENST00000356130.3	-	1	342	c.321C>G	c.(319-321)gtC>gtG	p.V107V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTCAGAATTGACAAAGAAAC	0.443000													6	94					0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190039779	190039779	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:190039779G>C	ENST00000295522.3	-	1	485	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	73					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)		TCACTGCTCAGATTCAGCAAG	0.597000													14	83					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6663061	6663061	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:6663061G>C	ENST00000274192.5	+	4	929	c.695G>C	c.(694-696)aGa>aCa	p.R232T	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.R185T	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	232					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TTATCTGGTAGAGCAAAAGAG	0.378000													3	68					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44521543	44521543	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:44521543C>T	ENST00000398137.1	-	3	216		c.e3-1		U2AF1_ENST00000380276.2_Splice_Site|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000291552.4_Intron	NM_001025204.1	NP_001020375.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TCAAGATGGTCTGCGGGGAAA	0.388000			Mis		"""CLL, MDS"""								7	337					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422407	53422407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:53422407C>T	ENST00000377942.3	-	1	368	c.165G>A	c.(163-165)atG>atA	p.M55I	PCDH8_ENST00000338862.4_Missense_Mutation_p.M55I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	55	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGATACTTTCATATGCAGGT	0.627000													13	153					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671602	84671602	+	Splice_Site	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:84671602C>G	ENST00000284136.6	-	8	905		c.e8-1			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						CTACATCATTCTGACATGAAA	0.373000													16	117					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975150	37975150	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:37975150A>G	ENST00000330173.1	+	5	1155	c.626A>G	c.(625-627)aAg>aGg	p.K209R	ZNF570_ENST00000586475.1_Missense_Mutation_p.K265R|ZNF570_ENST00000388801.3_Missense_Mutation_p.K6R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAAGCCCAAGAGTGTCTGT	0.353000													32	296					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28137086	28137086	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:28137086C>T	ENST00000304658.5	-	13	2190	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	XPO6_ENST00000565698.1_Missense_Mutation_p.V550M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	564					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGGCGGCCCACGGCCTGCAGC	0.592000													5	186					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14746392	14746392	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:14746392C>T	ENST00000380881.4	-	36	7031	c.6216G>A	c.(6214-6216)caG>caA	p.Q2072Q	FREM1_ENST00000422223.2_Silent_p.Q2071Q|FREM1_ENST00000380880.3_Silent_p.Q2071Q|FREM1_ENST00000380894.1_Silent_p.Q607Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2071	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGTGCCTTTCTGCTCTGTGA	0.473000													8	79					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57492859	57492859	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:57492859C>T	ENST00000300134.3	-	17	2219	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	STAT6_ENST00000543873.2_Missense_Mutation_p.E632K|STAT6_ENST00000454075.3_Missense_Mutation_p.E632K|STAT6_ENST00000537215.2_Missense_Mutation_p.E522K|STAT6_ENST00000556155.1_Missense_Mutation_p.E632K|STAT6_ENST00000538913.2_Missense_Mutation_p.E522K	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	632	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCATCTGTTCAGCTGTTGTG	0.537000													13	110					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306648	2306648	+	Silent	SNP	G	G	A	rs143269293		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:2306648G>A	ENST00000290974.2	-	8	1758	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.L443L|ZFYVE28_ENST00000515312.1_Silent_p.L403L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	473					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.L473L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGTGCCCGCGAGGCTGGCCC	0.682000													9	82					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559043	129559043	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:129559043C>A	ENST00000422113.2	-	9	3003	c.2677G>T	c.(2677-2679)Gac>Tac	p.D893Y	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D431Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	893						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGGGAGGTCCACCTGGGCT	0.527000													17	69					1.5739e-10	1.70529e-10	1	1	0
ERC2	26059	broad.mit.edu	37	3	56026125	56026125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:56026125C>A	ENST00000288221.6	-	11	2470	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	739						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)		TCATTCTTCTCATTCTCCACC	0.488000													17	129					3.51602e-12	3.8304e-12	1	1	0
ATP1B2	482	broad.mit.edu	37	17	7557411	7557411	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:7557411C>T	ENST00000250111.4	+	4	795	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	130					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TGATGTCTGCCGCCCTGGACG	0.547000													19	209					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101270861	101270861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:101270861C>T	ENST00000519449.1	-	11	2756	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D814N	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	814	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTTAGTGCATCGCCAAAATAT	0.338000													10	99					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65293753	65293753	+	Silent	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65293753C>A	ENST00000524944.1	+	4	567	c.534C>A	c.(532-534)atC>atA	p.I178I	SCYL1_ENST00000533862.1_Silent_p.I178I|SCYL1_ENST00000420247.2_Silent_p.I178I|SCYL1_ENST00000279270.6_Silent_p.I178I|SCYL1_ENST00000525364.1_Silent_p.I178I|SCYL1_ENST00000527009.1_Silent_p.I35I|SCYL1_ENST00000270176.5_Silent_p.I178I			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	178	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAAGGGGATCCCCGAGCTTG	0.662000													8	43					0.000157383	0.000163405	1	1	0
RELN	5649	broad.mit.edu	37	7	103183311	103183311	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:103183311C>G	ENST00000424685.2	-	43	6697	c.6538G>C	c.(6538-6540)Gat>Cat	p.D2180H	RELN_ENST00000428762.1_Missense_Mutation_p.D2180H|RELN_ENST00000343529.5_Missense_Mutation_p.D2180H			P78509	RELN_HUMAN	reelin	2180					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGAATCTATCAGATTCTAGC	0.353000													6	67					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114280776	114280776	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:114280776G>C	ENST00000369604.1	-	5	770	c.287C>G	c.(286-288)tCt>tGt	p.S96C	PHTF1_ENST00000369598.1_Missense_Mutation_p.S96C|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000369600.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.S96C|PHTF1_ENST00000357783.2_Missense_Mutation_p.S96C|PHTF1_ENST00000393357.2_Missense_Mutation_p.S96C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTCTTAAAGAGGTAACCTG	0.368000													12	36					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026126	64026126	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:64026126G>C	ENST00000540288.1	+	11	1297	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	PLCB3_ENST00000279230.6_Missense_Mutation_p.E398D|PLCB3_ENST00000325234.5_Missense_Mutation_p.E331D	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	398	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCATTGCCGAGACTGCCTTCA	0.622000													30	110					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173604	86173604	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:86173604C>G	ENST00000431532.2	-	2	395	c.247G>C	c.(247-249)Gat>Cat	p.D83H	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.D122H	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	122	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AAACTACTATCCGTCTCCTGC	0.507000													5	62					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31566423	31566423	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:31566423C>G	ENST00000389082.5	-	13	2892	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	DENND5B_ENST00000306833.6_Missense_Mutation_p.K911N|DENND5B_ENST00000536562.1_Missense_Mutation_p.K911N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	876	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAAGAGCTTCTTTTCTAGAG	0.413000													12	67					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41850134	41850134	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:41850134C>G	ENST00000196371.5	-	5	722	c.562G>C	c.(562-564)Gag>Cag	p.E188Q		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	188					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTTCTTACCTCTCTTGGCTTA	0.443000													8	76					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2315857	2315857	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:2315857G>A	ENST00000381458.5	+	11	1801	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	580					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAAGGTCCCAGATGAGTCTGA	0.557000													13	91					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580502	120580502	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:120580502C>G	ENST00000300648.6	-	44	5650	c.5638G>C	c.(5638-5640)Gag>Cag	p.E1880Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1880					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCGCCGCTCTACCCCCAGG	0.612000													15	60					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63586438	63586438	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:63586438G>A	ENST00000294244.4	+	5	1197	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	300										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGAAGTGGCAGAAGGAGGCCT	0.667000													9	57					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088158	52088158	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:52088158G>C	ENST00000495880.1	-	2	933	c.750C>G	c.(748-750)ccC>ccG	p.P250P	DUSP7_ENST00000296483.6_Silent_p.P199P			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	250					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor 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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTAGAGGTAGGGCAGGATCT	0.617000													11	118					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67776925	67776925	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:67776925G>C	ENST00000255674.6	-	28	3998	c.3712C>G	c.(3712-3714)Caa>Gaa	p.Q1238E	RTTN_ENST00000437017.1_Missense_Mutation_p.Q1238E|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1238							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)				AGCTGCGTTTGAAAAACGTAA	0.478000													10	42					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128804655	128804655	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:128804655G>A	ENST00000270861.5	+	4	558	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PLK4_ENST00000513090.1_Missense_Mutation_p.G63E|PLK4_ENST00000514379.1_Missense_Mutation_p.G54E|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000507249.1_Missense_Mutation_p.G95E|PLK4_ENST00000515069.1_Missense_Mutation_p.G95E	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	95	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCCATAATGGAGAAATGAAC	0.303000													4	39					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970002	74970002	+	Missense_Mutation	SNP	C	C	T	rs75200417		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:74970002C>T	ENST00000261978.4	-	33	5194	c.4808G>A	c.(4807-4809)cGc>cAc	p.R1603H	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1559H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1603	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGGTGGTGCGGTGCCCACG	0.622000													3	45					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892789	85892789	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:85892789G>A	ENST00000393822.3	-	6	657	c.558C>T	c.(556-558)gaC>gaT	p.D186D	SFTPB_ENST00000409383.1_Silent_p.D186D|SFTPB_ENST00000519937.2_Silent_p.D174D|SFTPB_ENST00000342375.3_Silent_p.D174D			P07988	PSPB_HUMAN	surfactant protein B	174					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGACGAGCTTGTCCAGCAGAG	0.667000													7	103					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107872810	107872810	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:107872810G>A	ENST00000379028.3	-	7	857	c.387C>T	c.(385-387)cgC>cgT	p.R129R	NRCAM_ENST00000379024.4_Silent_p.R129R|NRCAM_ENST00000425651.2_Silent_p.R129R|NRCAM_ENST00000413765.2_Silent_p.R129R|NRCAM_ENST00000379022.4_Silent_p.R129R|NRCAM_ENST00000351718.4_Silent_p.R123R			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	129	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGCAGCTCCGCGTTCGTTCC	0.458000													53	86					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169628239	169628239	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:169628239G>C	ENST00000366787.3	-	16	2646	c.2397C>G	c.(2395-2397)tgC>tgG	p.C799W	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	799					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTCCACGGAGCAGGCGTCAC	0.527000													3	42					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31813000	31813000	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:31813000G>A	ENST00000375454.3	+	4	693	c.483G>A	c.(481-483)gtG>gtA	p.V161V	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.V125V	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	161						extracellular region	lipid binding										GGGATCTGGTGATAGGCAAAT	0.552000													38	141					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609832	100609832	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:100609832C>G	ENST00000319509.7	+	9	2472	c.2472C>G	c.(2470-2472)ttC>ttG	p.F824L	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGAAATGGTTCGAGACCTGGG	0.662000													13	165					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559384	20559384	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:20559384C>T	ENST00000329697.6	-	8	1266	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	ACSM2B_ENST00000567001.1_Splice_Site_p.T366T|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.T366T|ACSM2B_ENST00000565322.1_Splice_Site_p.T287T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	366					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAACAGGTACCGTTTCTGTCT	0.488000													83	200					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338200	19338200	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:19338200G>A	ENST00000252575.6	+	8	1870	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	NCAN_ENST00000538881.1_Missense_Mutation_p.E42K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGAAAGCCGAGGGCCCCAG	0.672000													7	94					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862452	94862452	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:94862452C>T	ENST00000278505.4	+	2	1330	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	404						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TGCTCAAGGTCGTGGCCAAAG	0.547000													9	111					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545594	151545594	+	Missense_Mutation	SNP	C	C	G	rs145358516	by1000genomes	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:151545594C>G	ENST00000232892.7	+	5	960	c.834C>G	c.(832-834)ttC>ttG	p.F278L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						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)			GTCATCTCTTCAAATTTGTTA	0.373000													8	89					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155333	71155333	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:71155333G>T	ENST00000283228.2	-	4	997	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	PTPRR_ENST00000342084.4_Missense_Mutation_p.S70Y	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	182					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AACTTCCTCAGAGGGCAGAGC	0.368000													6	225					0.00116845	0.00119856	1	1	0
FBN3	84467	broad.mit.edu	37	19	8159441	8159441	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:8159441C>G	ENST00000600128.1	-	47	6208	c.5794G>C	c.(5794-5796)Gag>Cag	p.E1932Q	FBN3_ENST00000270509.2_Missense_Mutation_p.E1932Q|FBN3_ENST00000601739.1_Missense_Mutation_p.E1932Q			Q75N90	FBN3_HUMAN	fibrillin 3	1932	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGAGGCACTCATTGGTGTCT	0.587000													5	57					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508990	71508990	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:71508990G>A	ENST00000396073.3	+	9	2128	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	616					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)			CCATACCTTAGAGGCAATACA	0.438000													15	167					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103870789	103870789	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:103870789C>T	ENST00000302251.5	-	2	752	c.301G>A	c.(301-303)Gat>Aat	p.D101N	PDGFD_ENST00000393158.2_Missense_Mutation_p.D107N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	107	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTACAGATATCATTTTCTGCT	0.383000													4	81					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17152248	17152248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:17152248C>G	ENST00000539941.2	-	10	1277	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	COPS3_ENST00000439936.2_Missense_Mutation_p.D299H|COPS3_ENST00000268717.5_Missense_Mutation_p.D377H	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	377	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACCTCCTGATCAATGTTATGA	0.333000													7	45					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89171301	89171301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:89171301G>A	ENST00000554922.1	-	13	2202	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	EML5_ENST00000352093.5_Nonsense_Mutation_p.Q652*|EML5_ENST00000380664.5_Nonsense_Mutation_p.Q652*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	652						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTTAAGCTGAGGTAGATCT	0.328000													10	42					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70713227	70713227	+	Splice_Site	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:70713227C>G	ENST00000338779.6	-	7	732		c.e7-1			NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like						filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCAAGTAGCTCTACAGGAAGG	0.572000													7	54					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12573100	12573100	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:12573100C>G	ENST00000284995.6	+	11	1667	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000402228.3_Missense_Mutation_p.S427C|TSEN2_ENST00000314571.7_Missense_Mutation_p.S401C|TSEN2_ENST00000454502.2_Missense_Mutation_p.S368C|TSEN2_ENST00000475595.1_3'UTR|TSEN2_ENST00000415684.1_Missense_Mutation_p.S401C|TSEN2_ENST00000383797.5_Missense_Mutation_p.S410C	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	427					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTAAACCCTCTACTATGACT	0.368000													4	37					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083833	56083833	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:56083833G>A	ENST00000582730.2	-	2	373	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	SRSF1_ENST00000584773.1_Silent_p.L84L|SRSF1_ENST00000258962.4_Silent_p.L84L|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	84	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCCGCAGACGGTACCCA	0.642000													12	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298599	10298599	+	Missense_Mutation	SNP	C	C	G	rs139344968	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:10298599C>G	ENST00000403437.2	-	34	4907	c.4813G>C	c.(4813-4815)Gat>Cat	p.D1605H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1605					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCTCTGCATCCAGCGTGCTC	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	91					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371297	371297	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:371297G>T	ENST00000342640.4	-	6	703	c.661C>A	c.(661-663)Cgg>Agg	p.R221R	THEG_ENST00000346878.2_Silent_p.R197R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	221					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		AGGGAGGACCGAGGAATGGGC	0.607000													11	222					4.36969e-10	4.72592e-10	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	94					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412973	49412973	+	Missense_Mutation	SNP	C	C	G	rs11552761		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:49412973C>G	ENST00000418115.1	-	2	434	c.50G>C	c.(49-51)gGa>gCa	p.G17A	RHOA_ENST00000454011.2_Missense_Mutation_p.G17A|RHOA_ENST00000422781.1_Missense_Mutation_p.G17A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	17					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.G17V(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GCATGTCTTTCCACAGGCTCC	0.473000													9	74					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149944696	149944696	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:149944696G>C	ENST00000370377.3	-	9	723	c.606C>G	c.(604-606)gtC>gtG	p.V202V	CD99L2_ENST00000355149.3_Silent_p.V130V|CD99L2_ENST00000437787.2_Silent_p.V129V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.V153V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	202					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGCTGGAGACGGCACCGA	0.602000													21	18					0	0	1	0	0
CEND1	51286	broad.mit.edu	37	11	788510	788510	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:788510C>G	ENST00000330106.4	-	2	242	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	23						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTTGGCCTCGGTGGTGACC	0.692000													37	194					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94953487	94953487	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:94953487C>G	ENST00000370214.4	+	13	1129	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	ABCD3_ENST00000536817.1_Missense_Mutation_p.Q296E|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.Q393E|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	369	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCGAATGTCTCAAGCTCTGGG	0.318000													11	69					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10101464	10101464	+	Missense_Mutation	SNP	C	C	G	rs150933141		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:10101464C>G	ENST00000324907.9	+	4	704	c.568C>G	c.(568-570)Ctc>Gtc	p.L190V	GRHL1_ENST00000324883.5_Missense_Mutation_p.I26M|GRHL1_ENST00000405379.2_Missense_Mutation_p.L190V	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	190					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.L190V(1)|p.I26M(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGATCGGAATCTCAATACTGA	0.542000													25	114					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101594223	101594223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:101594223C>T	ENST00000335681.5	+	15	1729	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	NPAS2_ENST00000542504.1_Nonsense_Mutation_p.Q547*	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	482					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCCTGCCTCAGACCGTTCT	0.632000													8	103					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135291576	135291576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:135291576C>G	ENST00000285968.6	+	21	3009	c.2983C>G	c.(2983-2985)Ctg>Gtg	p.L995V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	995					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L995V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTACCTCTCTGGAATGCAA	0.378000													12	76					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48946536	48946536	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:48946536C>T	ENST00000263269.3	+	13	3441	c.3353C>T	c.(3352-3354)tCg>tTg	p.S1118L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1118						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCGGAGGACTCGGAGAGCCTG	0.786000													12	24					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72691063	72691063	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:72691063C>G	ENST00000341689.3	+	2	205	c.151C>G	c.(151-153)Cag>Gag	p.Q51E	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	51						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GCTTATGGATCAGGCACACAT	0.522000													13	55					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549235	47549235	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:47549235G>C	ENST00000357838.4	+	28	2669	c.2587G>C	c.(2587-2589)Gac>Cac	p.D863H	COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.D863H	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCTCACGCAGGACCCGGCCGC	0.672000													35	213					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003643	14003643	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:14003643C>T	ENST00000454313.1	-	5	407	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	C19orf57_ENST00000591586.1_Missense_Mutation_p.E117K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E117K|C19orf57_ENST00000586783.1_Missense_Mutation_p.E117K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	117					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TTCATCTCTTCTTTTCTTGTC	0.502000													5	52					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657474	113657474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:113657474G>A	ENST00000361127.5	+	15	2704	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AAGGAAAAATGAAGACTATAG	0.383000													4	52					0	0	1	0	0
CD3G	917	broad.mit.edu	37	11	118220500	118220500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:118220500C>A	ENST00000532917.1	+	3	190	c.122C>A	c.(121-123)tCg>tAg	p.S41*	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_5'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	41	Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	p.S41L(1)		breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GAAGATGGTTCGGTACTTCTG	0.393000													4	60					2.56e-06	2.67657e-06	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155350	22155350	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:22155350C>T	ENST00000397126.4	-	4	2634	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGCTTTTCTCCAGCATGAAT	0.368000													15	63					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172198	38172198	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:38172198C>T	ENST00000317025.8	-	12	2726	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D737N|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D737N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	737					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AACTTGCTATCAGGAAGTGAT	0.433000			T	NUP98	AML								13	28					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298491	10298491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:10298491C>T	ENST00000403437.2	-	34	5015	c.4921G>A	c.(4921-4923)Gag>Aag	p.E1641K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1641					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTAAACTCTCTGCAGCTAAG	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	164					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20837244	20837244	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:20837244C>T	ENST00000256925.7	+	10	1815	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.F278F|CABLES1_ENST00000420687.2_Silent_p.F340F|RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	605					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTTGAATTCCCGGTGTTAG	0.488000													7	62					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091356	106091356	+	RNA	SNP	A	A	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:106091356A>T	ENST00000390543.2	-	0	537																											ACCACACGGTACGTGCTGTTG	0.592000													56	371					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:42832122C>T	ENST00000609841.1	-	0	1781					NR_024380.1																						CAGTAAAAGGCTTTGCCACAT	0.348000													4	13					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151542617	151542617	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:151542617C>A	ENST00000232892.7	+	4	724	c.598C>A	c.(598-600)Caa>Aaa	p.Q200K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.Q200K	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						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)			AGCAGTGACTCAACAGGTATG	0.328000													4	39					0.00116845	0.00119856	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778080	41778080	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:41778080G>T	ENST00000392006.3	+	3	685	c.512G>T	c.(511-513)cGa>cTa	p.R171L	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R71L|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R128L|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R71L|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R171L|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R71L|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R82L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	171					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.R171Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCAGAGTCGAAAGAGGCCT	0.532000													84	265					1.32003e-40	1.45131e-40	1	1	0
POLA1	5422	broad.mit.edu	37	X	24859798	24859798	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:24859798C>G	ENST00000379068.3	+	33	3809	c.3766C>G	c.(3766-3768)Cat>Gat	p.H1256D	POLA1_ENST00000379059.3_Missense_Mutation_p.H1250D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1250					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TAGAGTTCATCATTATCATAA	0.373000													11	12					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958855	78958855	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:78958855C>T	ENST00000370756.3	+	2	664	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	PTGFR_ENST00000370758.1_Missense_Mutation_p.H143Y|PTGFR_ENST00000370757.3_Missense_Mutation_p.H143Y	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	143					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.H143N(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCAATATTTCATTCTACGAA	0.413000													9	66					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828691	74828691	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:74828691C>G	ENST00000412021.2	-	6	709	c.376G>C	c.(376-378)Gat>Cat	p.D126H	P4HA1_ENST00000440381.1_Missense_Mutation_p.D126H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D126H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D126H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D126H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D126H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	126						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCTGATCTTCATCATTA	0.373000													13	96					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79117670	79117670	+	Splice_Site	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:79117670G>C	ENST00000554719.1	+	3	593		c.e3+1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						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)		CCTTAAAGAGGTAAAGTTCAC	0.438000													10	47					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145648799	145648799	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:145648799G>T	ENST00000265271.5	+	16	2647	c.2481G>T	c.(2479-2481)agG>agT	p.R827S	RBM27_ENST00000506502.1_Missense_Mutation_p.R772S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	827					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATATGAGGAAAAAAAGAC	0.303000													4	57					0.150653	0.15116	1	1	0
KRT81	3887	broad.mit.edu	37	12	52681092	52681092	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:52681092C>T	ENST00000327741.5	-	7	1109	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	347	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACCGCGGCCTCCAGCTTGG	0.607000													6	78					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40880510	40880510	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:40880510G>A	ENST00000409587.1	+	10	1399	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	PLD3_ENST00000356508.5_Silent_p.E334E|PLD3_ENST00000409735.4_Silent_p.E334E|PLD3_ENST00000409281.1_Silent_p.E334E|PLD3_ENST00000409419.1_Silent_p.E334E			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	334					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCACTCTGGAGTTCTCCCACC	0.582000													26	175					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762898	140762898	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:140762898G>T	ENST00000518325.1	+	1	432	c.432G>T	c.(430-432)gaG>gaT	p.E144D	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATAATGGAGAATACAGCTC	0.433000													9	64					0.00621372	0.00631957	1	1	0
MAP7	9053	broad.mit.edu	37	6	136693721	136693721	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:136693721G>C	ENST00000354570.3	-	8	1204	c.794C>G	c.(793-795)tCt>tGt	p.S265C	MAP7_ENST00000454590.1_Missense_Mutation_p.S287C|MAP7_ENST00000544465.1_Missense_Mutation_p.S250C|MAP7_ENST00000438100.2_Missense_Mutation_p.S250C|MAP7_ENST00000432797.2_Missense_Mutation_p.S119C	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	265					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CGAATTTCTAGAGTGTGCAGC	0.498000													10	72					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92559658	92559658	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:92559658C>T	ENST00000545170.1	-	5	393	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ATXN3_ENST00000340660.6_Missense_Mutation_p.E54K|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.E94K|ATXN3_ENST00000532032.1_Missense_Mutation_p.E109K|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_Missense_Mutation_p.E94K|ATXN3_ENST00000393287.5_Missense_Mutation_p.E109K	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	109	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AATGATCTTTCATTTCTAAAA	0.239000													5	9					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911552	88911552	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:88911552C>T	ENST00000263321.5	+	1	933	c.431C>T	c.(430-432)aCc>aTc	p.T144I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	144					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GCAAAGCATACCATCAGCTCA	0.423000													31	124					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27592392	27592392	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:27592392C>G	ENST00000493344.2	-	2	475	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	EIF2B4_ENST00000445933.2_Missense_Mutation_p.E34Q|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E34Q|EIF2B4_ENST00000451130.2_Missense_Mutation_p.E55Q			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	34					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTTTCTTCTTTGGTCATT	0.473000													26	140					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2613111	2613111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:2613111G>T	ENST00000402050.2	+	6	638	c.454G>T	c.(454-456)Gag>Tag	p.E152*	IQCE_ENST00000438376.2_Nonsense_Mutation_p.E136*|IQCE_ENST00000325979.7_Nonsense_Mutation_p.E87*|IQCE_ENST00000404984.1_Nonsense_Mutation_p.E101*	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	152										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CGAGATTATTGAGTTAAAGAA	0.373000													12	34					2.27111e-07	2.40399e-07	1	1	0
ST5	6764	broad.mit.edu	37	11	8724227	8724227	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:8724227T>C	ENST00000534127.1	-	17	2997	c.2612A>G	c.(2611-2613)cAc>cGc	p.H871R	ST5_ENST00000357665.1_Missense_Mutation_p.H871R|ST5_ENST00000530991.1_Missense_Mutation_p.H343R|ST5_ENST00000534278.1_Missense_Mutation_p.H62R|ST5_ENST00000313726.6_Missense_Mutation_p.H871R|ST5_ENST00000526099.1_Missense_Mutation_p.H384R|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.H451R|ST5_ENST00000526757.1_Missense_Mutation_p.H451R	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	871	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAAGTCCACGTGCTCCAGCCT	0.612000													10	89					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62209732	62209732	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:62209732G>C	ENST00000261517.5	-	60	7936	c.7863C>G	c.(7861-7863)gtC>gtG	p.V2621V	VPS13C_ENST00000249837.3_Silent_p.V2578V|VPS13C_ENST00000395898.3_Silent_p.V2578V|VPS13C_ENST00000395896.4_Silent_p.V2621V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2621					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						ACATGCATCTGACTTCCCTGC	0.418000													12	57					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230092	103230092	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:103230092C>T	ENST00000424685.2	-	28	4255	c.4096G>A	c.(4096-4098)Gaa>Aaa	p.E1366K	RELN_ENST00000428762.1_Missense_Mutation_p.E1366K|RELN_ENST00000343529.5_Missense_Mutation_p.E1366K			P78509	RELN_HUMAN	reelin	1366					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCATTCTTCAAAGTCCCCT	0.458000													25	145					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86669288	86669288	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:86669288G>A	ENST00000409556.1	+	3	483	c.118G>A	c.(118-120)Gag>Aag	p.E40K	KDM3A_ENST00000542128.1_Missense_Mutation_p.E40K|KDM3A_ENST00000409064.1_Missense_Mutation_p.E40K|KDM3A_ENST00000312912.5_Missense_Mutation_p.E40K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	40					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCGCGTCGCCGAGTGGCCCTG	0.642000													13	92					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470857	31470857	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:31470857G>A	ENST00000457010.2	+	1	713	c.12G>A	c.(10-12)gcG>gcA	p.A4A	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Silent_p.A99A|ARMC5_ENST00000268314.4_Silent_p.A4A|ARMC5_ENST00000563544.1_Silent_p.A4A|ARMC5_ENST00000538189.1_Silent_p.A36A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	4							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCGGCTGCGAAGCCAACCC	0.687000													7	10					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149285641	149285641	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:149285641G>C	ENST00000367463.4	+	5	726	c.623G>C	c.(622-624)aGa>aCa	p.R208T	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	208					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGACTGGAGAGGGGAACAA	0.532000													4	42					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015519	19015519	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:19015519C>T	ENST00000406451.4	+	25	3254	c.3104C>T	c.(3103-3105)tCt>tTt	p.S1035F	HDAC9_ENST00000441542.2_Missense_Mutation_p.S1038F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S994F	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						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)	GAGACCGTTTCTGCCCTGGCC	0.532000													13	40					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185599491	185599491	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:185599491C>G	ENST00000314970.6	+	8	1383	c.950C>G	c.(949-951)tCa>tGa	p.S317*	PRIMPOL_ENST00000512834.1_Nonsense_Mutation_p.S317*|PRIMPOL_ENST00000503752.1_Nonsense_Mutation_p.S317*|PRIMPOL_ENST00000515774.1_Nonsense_Mutation_p.S188*	NM_152683.2	NP_689896			primase and polymerase (DNA-directed)	317																	CCTATACAGTCAAAAGATGTT	0.318000													3	16					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073372	74073372	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:74073372C>T	ENST00000370367.3	+	3	496	c.443C>T	c.(442-444)tCg>tTg	p.S148L		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		ACGCAGCGTTCGGTGGAGGTC	0.677000													9	52					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33059311	33059311	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:33059311C>G	ENST00000374864.4	+	16	1773	c.1560C>G	c.(1558-1560)tcC>tcG	p.S520S	ITCH_ENST00000262650.6_Silent_p.S561S|ITCH_ENST00000535650.1_Silent_p.S410S|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	561					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAGGATTCCTTTCAACAGG	0.408000													6	31					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37362656	37362656	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:37362656C>T	ENST00000233057.4	-	10	1078	c.756G>A	c.(754-756)atG>atA	p.M252I	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.M252I|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.M252I	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	252					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTGTTTCTTTCATGTCAGGAA	0.333000													25	153					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577964	9577964	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:9577964G>A	ENST00000301480.4	-	10	1872	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGCACTTAGTGAAAGCTTTAC	0.418000													25	95					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166188012	166188012	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:166188012C>G	ENST00000375437.2	+	14	2612	c.2322C>G	c.(2320-2322)ctC>ctG	p.L774L	SCN2A_ENST00000283256.6_Silent_p.L774L|SCN2A_ENST00000375427.2_Silent_p.L774L|SCN2A_ENST00000357398.3_Silent_p.L774L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	774					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L774L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAATACACTCTTCATGGCTA	0.453000													9	63					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48682410	48682410	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:48682410G>C	ENST00000334136.5	+	27	3560	c.3382G>C	c.(3382-3384)Gac>Cac	p.D1128H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D1142H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D1128H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1128					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGCAGGCCTAGACGTGACCCA	0.552000													6	37					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223161789	223161789	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:223161789G>A	ENST00000350526.4	-	2	365	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	PAX3_ENST00000392069.2_Missense_Mutation_p.R77C|PAX3_ENST00000409828.3_Missense_Mutation_p.R77C|PAX3_ENST00000258387.5_Missense_Mutation_p.R77C|PAX3_ENST00000409551.3_Missense_Mutation_p.R77C|PAX3_ENST00000344493.4_Missense_Mutation_p.R77C|PAX3_ENST00000336840.6_Missense_Mutation_p.R77C|PAX3_ENST00000392070.2_Missense_Mutation_p.R77C	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	77	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGACACGCGCAGCTGGCGC	0.642000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						4	39					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38287958	38287958	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:38287958C>G	ENST00000373036.4	-	9	1742	c.1602G>C	c.(1600-1602)caG>caC	p.Q534H		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	534						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGGGCAGAGTCTGGACCATGG	0.567000													6	61					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62476476	62476476	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:62476476C>G	ENST00000539111.2	-	7	1289	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	408					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATCCCATTTTCTAGTAACTCA	0.308000													5	28					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40186315	40186315	+	Splice_Site	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:40186315G>C	ENST00000360214.3	+	5	763	c.303G>C	c.(301-303)aaG>aaC	p.K101N	ETS2_ENST00000360938.3_Splice_Site_p.K101N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	101	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GCATTCCAAAGAGTAAGTACT	0.468000													7	60					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373161	59373161	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:59373161C>T	ENST00000348370.4	+	8	2408	c.1975C>T	c.(1975-1977)Cat>Tat	p.H659Y	RNF111_ENST00000559209.1_Missense_Mutation_p.H659Y|RNF111_ENST00000561186.1_Missense_Mutation_p.H659Y|RNF111_ENST00000557998.1_Missense_Mutation_p.H659Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H659Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	659	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCCACTTCATCATCAAGCTTC	0.433000													16	124					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71718419	71718419	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:71718419G>C	ENST00000393695.3	-	21	5610	c.5279C>G	c.(5278-5280)tCc>tGc	p.S1760C	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1746C|NUMA1_ENST00000351960.6_Missense_Mutation_p.S624C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1760					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGGCGCTGGGAGATAGGTGA	0.617000			T	RARA	APL								3	30					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553673	140553673	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:140553673C>T	ENST00000231137.3	+	1	1431	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		419	Cadherin 4.				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)			AGTACAACATCACCATCACCG	0.522000													18	117					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10561326	10561326	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:10561326C>G	ENST00000380702.2	+	6	602	c.602C>G	c.(601-603)tCa>tGa	p.S201*	PDE4A_ENST00000293683.5_Nonsense_Mutation_p.S197*|PDE4A_ENST00000592685.1_Nonsense_Mutation_p.S201*|PDE4A_ENST00000352831.6_Nonsense_Mutation_p.S223*|PDE4A_ENST00000440014.2_Nonsense_Mutation_p.S162*			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	223					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCCACGCTGTCAGGTAGCTAA	0.672000													3	19					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101146432	101146432	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:101146432G>C	ENST00000428847.2	-	4	2151	c.1835C>G	c.(1834-1836)tCt>tGt	p.S612C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	612					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAACAGAAGAGCTTGCTAG	0.363000													52	62					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310772	171310772	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:171310772G>C	ENST00000367749.3	+	10	1801	c.1471G>C	c.(1471-1473)Gac>Cac	p.D491H		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	491					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GACCCAGTGGGACAGAACATT	0.488000													19	42					0	0	1	0	0
CD9	928	broad.mit.edu	37	12	6344685	6344685	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:6344685C>G	ENST00000382518.1	+	7	927	c.491C>G	c.(490-492)tCa>tGa	p.S164*	CD9_ENST00000009180.4_Nonsense_Mutation_p.S164*|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Nonsense_Mutation_p.S95*			P21926	CD9_HUMAN	CD9 molecule	164					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CAGTTTATCTCAGACATCTGC	0.517000													30	27					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639175	7639175	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:7639175G>T	ENST00000359156.4	-	10	2580	c.2378C>A	c.(2377-2379)tCc>tAc	p.S793Y	CD163_ENST00000432237.2_Missense_Mutation_p.S793Y|CD163_ENST00000396620.3_Missense_Mutation_p.S826Y|CD163_ENST00000541972.1_Missense_Mutation_p.S781Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	793	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						CCAAATGCGGGATTCTTTTCC	0.512000													17	287					8.00594e-06	8.35585e-06	1	1	0
TGM1	7051	broad.mit.edu	37	14	24729203	24729203	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:24729203C>G	ENST00000206765.6	-	5	942	c.819G>C	c.(817-819)ggG>ggC	p.G273G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	273					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTAAATTCTCCCAGACTCAT	0.542000													10	58					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506624	7506624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:7506624C>G	ENST00000359920.6	+	2	881	c.628C>G	c.(628-630)Cca>Gca	p.P210A	CTD-2207O23.3_ENST00000593531.1_Silent_p.L167L|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P52A	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	210					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTTACATCTCCAAACACCGA	0.493000													34	141					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2409944	2409944	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:2409944G>A	ENST00000449969.1	+	2	234	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	PLCH2_ENST00000288766.5_Missense_Mutation_p.G7R|PLCH2_ENST00000378486.3_Missense_Mutation_p.G52R|PLCH2_ENST00000378488.3_Missense_Mutation_p.G52R|PLCH2_ENST00000419816.2_Missense_Mutation_p.G52R			O75038	PLCH2_HUMAN	phospholipase C, eta 2	52	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CATGCAAGAGGGGATGCAGAT	0.657000													9	51					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71146172	71146172	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:71146172G>C	ENST00000448642.2	+	18	2427	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	HK1_ENST00000359426.6_Missense_Mutation_p.E645Q|HK1_ENST00000360289.2_Missense_Mutation_p.E633Q|HK1_ENST00000404387.2_Missense_Mutation_p.E649Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.E644Q			P19367	HXK1_HUMAN	hexokinase 1	645	Catalytic.		T -> S (in HK deficiency; HK Utrecht).		glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AAAAAGGAGAGAGGTAACTAT	0.413000													3	36					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835905	32835905	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:32835905C>G	ENST00000380250.3	+	52	8065	c.7569C>G	c.(7567-7569)tcC>tcG	p.S2523S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAATCATCCGAGGAGGAGG	0.502000													17	66					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143937	160143937	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:160143937G>A	ENST00000368081.4	+	14	2499	c.2028G>A	c.(2026-2028)ctG>ctA	p.L676L	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	676					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gtgcagaactgaaggacatac	0.498000													7	83					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891177	150891177	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:150891177C>T	ENST00000370350.3	+	5	583	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	166						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGATCATCGCCGTGCTGG	0.652000													20	56					0	0	1	0	0
AMH	268	broad.mit.edu	37	19	2251759	2251759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:2251759C>T	ENST00000221496.4	+	5	1508	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*		NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone						cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGGCCTCAGTCCGACCG	0.706000									Persistant Mullerian Duct Syndrome (type I and II)				7	51					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404654	61404654	+	RNA	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:61404654G>A	ENST00000496593.1	+	0	1258					NR_002775.2																						GACAAAGTGGGAGCCAGTGAA	0.537000													5	41					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95484998	95484998	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:95484998C>T	ENST00000356884.6	-	3	613	c.546G>A	c.(544-546)tcG>tcA	p.S182S	BICD2_ENST00000375512.3_Silent_p.S182S	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	182					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCCAGTTCCGAGTAGTCCT	0.572000													10	40					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57710154	57710154	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:57710154G>C	ENST00000333493.4	+	3	410	c.249G>C	c.(247-249)ttG>ttC	p.L83F	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	83					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						AGGAAGGTTTGACGCAGAAGG	0.532000													6	55					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747549	44747549	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:44747549G>C	ENST00000222673.5	+	23	3065	c.3023G>C	c.(3022-3024)cGc>cCc	p.R1008P	OGDH_ENST00000447398.1_Missense_Mutation_p.R1019P|OGDH_ENST00000543843.1_Missense_Mutation_p.R959P|OGDH_ENST00000444676.1_Missense_Mutation_p.R1023P|OGDH_ENST00000449767.1_Missense_Mutation_p.R1004P|OGDH_ENST00000439616.2_Missense_Mutation_p.R858P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	1008					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GAGCTGCAGCGCCTCCTGGAC	0.642000													14	85					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99498304	99498304	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:99498304G>C	ENST00000393677.4	+	2	274	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E24Q|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E24Q|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E24Q|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E24Q|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E24Q|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E24Q	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	24					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GGCTCCCCTGGAGTCTCCACC	0.537000													5	104					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862931	58862931	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:58862931C>T	ENST00000263100.3	-	5	797	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	246	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCTTTCTCCCCGCGCCGTAGC	0.627000													10	48					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699300	17699300	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:17699300C>G	ENST00000353383.1	+	3	3507	c.3038C>G	c.(3037-3039)tCc>tGc	p.S1013C	RAI1_ENST00000261641.6_Missense_Mutation_p.S1013C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1013						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)		GCCGAGGACTCCCCATGCAGG	0.687000													5	14					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299520	65299520	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:65299520C>A	ENST00000377990.2	+	3	1493	c.1290C>A	c.(1288-1290)caC>caA	p.H430Q	CEP68_ENST00000260569.4_Missense_Mutation_p.H430Q|CEP68_ENST00000546106.1_Missense_Mutation_p.H430Q|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_Missense_Mutation_p.H42Q	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	430					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TAGGCAAGCACCTTGATATGG	0.647000													14	61					4.93089e-13	5.38161e-13	1	1	0
PRRX1	5396	broad.mit.edu	37	1	170695452	170695452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:170695452G>C	ENST00000239461.6	+	3	822	c.509G>C	c.(508-510)gGa>gCa	p.G170A	PRRX1_ENST00000367760.3_Missense_Mutation_p.G170A|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.G170A	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCTACTCAGGAGACGTGACT	0.547000													22	65					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739812	152739812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:152739812G>A	ENST00000360283.6	-	2	375	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CACNB4_ENST00000427385.1_Nonsense_Mutation_p.R56*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.R74*|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.R74*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.R27*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.R40*			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	74					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTCTCCTGTCGAATTGCTTCC	0.493000													20	102					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9987997	9987997	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:9987997G>A	ENST00000412055.1	-	4	2989	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	954						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TCCCCCTGCCGAGCGGCGGTA	0.662000													9	38					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245083	46245083	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:46245083G>A	ENST00000334344.6	+	15	3349	c.3177G>A	c.(3175-3177)ctG>ctA	p.L1059L	ARID2_ENST00000444670.1_Silent_p.L669L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.L910L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1059	Gln-rich.				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)		AGTCGAGTCTGATTAAACAGC	0.493000			"""N, S, F"""		hepatocellular carcinoma								31	102					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7895918	7895918	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:7895918G>T	ENST00000264668.2	+	12	1740	c.1710G>T	c.(1708-1710)gtG>gtT	p.V570V	MTRR_ENST00000440940.2_Silent_p.V543V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	570					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCATAATGGTGGGTCCAGGAA	0.408000													10	152					0.010729	0.0108748	1	1	0
CEP135	9662	broad.mit.edu	37	4	56883854	56883854	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:56883854C>T	ENST00000257287.4	+	22	2967	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	948					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CAGATCTCATCAATGGCAAAA	0.333000													4	24					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692380	12692380	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:12692380G>A	ENST00000311437.6	-	5	631	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCTATTAAGGGAGACCTGATG	0.433000													7	101					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919111	21919111	+	Missense_Mutation	SNP	C	C	T	rs149127157		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:21919111C>T	ENST00000240662.2	-	3	1166	c.821G>A	c.(820-822)cGc>cAc	p.R274H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	274						voltage-gated potassium channel complex		p.R274H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CAGGGGACTGCGCTTGTCAAT	0.473000													16	62					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980397	136980397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:136980397G>A	ENST00000359015.4	-	9	1846	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	496					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGATGCTTGAATGACTCTC	0.383000													5	50					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44685407	44685407	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:44685407C>A	ENST00000396058.1	+	5	2952	c.2785C>A	c.(2785-2787)Cct>Act	p.P929T	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.P929T|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	929					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGGGGAAAAACCTTATGAGTG	0.393000													16	79					1.02788e-11	1.11775e-11	1	1	0
DNER	92737	broad.mit.edu	37	2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512000													10	109					1.58986e-06	1.6681e-06	1	1	0
NUP205	23165	broad.mit.edu	37	7	135291638	135291638	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:135291638C>G	ENST00000285968.6	+	21	3071	c.3045C>G	c.(3043-3045)gtC>gtG	p.V1015V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1015					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAAACCTGTCAGTACTACAA	0.408000													8	96					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61522433	61522433	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:61522433G>A	ENST00000266070.4	-	15	3745	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	DIDO1_ENST00000395340.1_Silent_p.F1140F|DIDO1_ENST00000395343.1_Silent_p.F1140F|DIDO1_ENST00000395335.2_Silent_p.F1140F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1140					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CACGGCTGCTGAAATAGGAGT	0.557000													5	92					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47824993	47824993	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:47824993C>T	ENST00000378460.2	-	22	2818	c.2772G>A	c.(2770-2772)caG>caA	p.Q924Q	NUP160_ENST00000528071.1_Silent_p.Q810Q|NUP160_ENST00000530326.1_Silent_p.Q810Q	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	924					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGTTTACCTTCTGTCCTTCTC	0.388000													8	64					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41265302	41265302	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:41265302G>A	ENST00000284440.4	+	7	664	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UCHL1_ENST00000503431.1_Missense_Mutation_p.E174K|UCHL1_ENST00000512788.1_Missense_Mutation_p.E174K|UCHL1_ENST00000508768.1_Missense_Mutation_p.E158K	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	174					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CCACCTCTATGAACTTGGTAT	0.348000													3	22					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122351063	122351063	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:122351063G>C	ENST00000483793.1	+	7	1024	c.984G>C	c.(982-984)gaG>gaC	p.E328D	PARP15_ENST00000310366.4_Missense_Mutation_p.E289D|PARP15_ENST00000493645.1_Missense_Mutation_p.E220D|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Missense_Mutation_p.E523D			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	501	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACGCAATAGAGAAGGTAATAC	0.358000													7	29					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99021497	99021497	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:99021497G>A	ENST00000292478.4	-	7	2071	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I656I|PTCD1_ENST00000555673.1_Silent_p.I656I	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAAGATGCTGATGAGATAGG	0.552000													41	78					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821987	42821987	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:42821987G>C	ENST00000598766.1	+	12	1099	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	TMEM145_ENST00000301204.3_Missense_Mutation_p.E343Q			Q8NBT3	TM145_HUMAN	transmembrane protein 145	343						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACACTTTCCTGAGAAGCAGCC	0.597000													34	99					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18407713	18407713	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:18407713C>G	ENST00000357236.4	-	11	1269	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000358866.6_Missense_Mutation_p.E318Q|DZANK1_ENST00000262547.5_Missense_Mutation_p.E318Q|DZANK1_ENST00000329494.5_Missense_Mutation_p.E320Q			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	145						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAACCTACCTCTTGTGATGAA	0.473000													5	39					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75053056	75053056	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:75053056C>G	ENST00000310715.3	-	17	2065	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	TTC18_ENST00000394865.1_Missense_Mutation_p.E649Q|TTC18_ENST00000355577.3_Missense_Mutation_p.E118Q|TTC18_ENST00000401621.2_Missense_Mutation_p.E649Q|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	649							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCAAAGTTCTCATTGACTTCT	0.363000													8	32					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129680855	129680855	+	Silent	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:129680855G>C	ENST00000358303.4	-	3	429	c.345C>G	c.(343-345)ctC>ctG	p.L115L	ZC3HC1_ENST00000481503.1_Silent_p.L115L|ZC3HC1_ENST00000311873.5_Silent_p.L94L|ZC3HC1_ENST00000360708.5_Silent_p.L115L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	115					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)					TAGAGCACTTGAGCATATCAC	0.423000													21	216					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078551	157078551	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:157078551C>G	ENST00000265007.6	-	1	877	c.536G>C	c.(535-537)cGa>cCa	p.R179P	SOX30_ENST00000311371.5_Missense_Mutation_p.R179P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	179					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTCCCCTCGGAAGTAGCC	0.657000													24	98					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	70999325	70999325	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:70999325G>A	ENST00000396396.1	+	3	665	c.436G>A	c.(436-438)Gat>Aat	p.D146N	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.D146N	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	146					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCCTGCACCCGATGTTGTCTC	0.418000													15	92					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242251	98242251	+	Splice_Site	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:98242251C>G	ENST00000430669.2	-	7	1454	c.869G>C	c.(868-870)aGc>aCc	p.S290T	PTCH1_ENST00000331920.6_Splice_Site_p.S356T|PTCH1_ENST00000429896.2_Splice_Site_p.S205T|PTCH1_ENST00000437951.1_Splice_Site_p.S290T|PTCH1_ENST00000421141.1_Splice_Site_p.S205T|PTCH1_ENST00000418258.1_Splice_Site_p.S205T|PTCH1_ENST00000375274.2_Splice_Site_p.S355T			Q13635	PTC1_HUMAN	patched 1	356					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGGCTTACCTGACGAGTTT	0.468000													17	70					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71068457	71068457	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:71068457G>C	ENST00000452400.2	-	11	2324	c.2143C>G	c.(2143-2145)Ctg>Gtg	p.L715V	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	715	CASP8AP2-binding (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCCTGGCTCAGGTCTTTGCCT	0.498000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								16	93					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136587185	136587185	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:136587185C>T	ENST00000264162.2	-	3	792	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	261	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGCTTCTGCCGCAGACTTGC	0.403000													6	94					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775065	77775065	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:77775065G>T	ENST00000281030.2	+	1	159	c.138G>T	c.(136-138)ggG>ggT	p.G46G	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	46					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GTGGGCCTGGGGGCCAGGCCC	0.632000													13	156					0.00244969	0.00249995	1	1	0
GJB3	2707	broad.mit.edu	37	1	35250484	35250484	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:35250484G>A	ENST00000373366.2	+	2	736	c.121G>A	c.(121-123)Gag>Aag	p.E41K	GJB3_ENST00000373362.3_Missense_Mutation_p.E41K|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	41					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGTGGCTGCAGAGCGCGTGTG	0.592000													5	51					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69699371	69699371	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:69699371C>G	ENST00000395198.3	-	22	2816	c.2569G>C	c.(2569-2571)Gag>Cag	p.E857Q	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.E849Q|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000277817.6_Missense_Mutation_p.E747Q	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	857	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AATGTTTCCTCTATGTCATCT	0.308000													12	45					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7247375	7247375	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:7247375G>C	ENST00000379938.2	+	12	5229	c.4692G>C	c.(4690-4692)aaG>aaC	p.K1564N	RREB1_ENST00000349384.6_Missense_Mutation_p.K1509N|RREB1_ENST00000379933.3_Missense_Mutation_p.K1509N|RREB1_ENST00000334984.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1509					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGCAGACAAGAGGAAGAAGG	0.602000													7	53					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70713608	70713608	+	Splice_Site	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:70713608C>G	ENST00000338779.6	-	6	657		c.e6-1			NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like						filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGTTTGTACTCTGCAGAAGGG	0.647000													3	16					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44770351	44770351	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:44770351G>T	ENST00000334152.1	+	4	368	c.368G>T	c.(367-369)gGa>gTa	p.G123V	ZNF233_ENST00000589522.1_Splice_Site_p.E6*|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_Splice_Site_p.E6*|ZNF233_ENST00000391958.2_Splice_Site_p.E6*			A6NK53	ZN233_HUMAN	zinc finger protein 233	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GATGTTGTAGGAGATGGTGAC	0.507000													32	144					4.4194e-11	4.79706e-11	1	1	0
CDH19	28513	broad.mit.edu	37	18	64172297	64172297	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr18:64172297C>T	ENST00000262150.2	-	12	2363	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	691					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D691N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGGCACTGTCGGGGCCAACT	0.493000													11	140					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65293603	65293603	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:65293603C>G	ENST00000524944.1	+	4	417	c.384C>G	c.(382-384)ctC>ctG	p.L128L	SCYL1_ENST00000533862.1_Silent_p.L128L|SCYL1_ENST00000420247.2_Silent_p.L128L|SCYL1_ENST00000279270.6_Silent_p.L128L|SCYL1_ENST00000525364.1_Silent_p.L128L|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Silent_p.L128L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	128	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGAAAGCCCTCAGCTTCCTGG	0.627000													6	46					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55638157	55638157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:55638157C>T	ENST00000294383.6	-	4	594	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	USP24_ENST00000407756.1_Missense_Mutation_p.E87K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	199					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCATGAATTTCAGTACCCCAC	0.368000													9	38					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364582	142364582	+	RNA	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:142364582G>C	ENST00000390397.2	+	0	253																											TGATGTCAAAGATATAAACAA	0.473000													4	57					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105179399	105179399	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:105179399G>A	ENST00000369797.3	+	16	2305	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	737	S1 motif 8.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTTTGTGAAGAGCATCAAGG	0.502000													17	70					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133928005	133928005	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:133928005G>A	ENST00000361069.4	+	10	1891	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	586	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTGTCCCTGAGGCACTCTA	0.642000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	33					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3642839	3642839	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:3642839C>G	ENST00000294008.3	-	11	2828	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	730	BTB.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACCCCGTCCTCTACAGCGGAG	0.572000								Direct reversal of damage					5	45					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4463804	4463804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:4463804C>T	ENST00000301395.3	-	1	72	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	GGT6_ENST00000574154.1_Missense_Mutation_p.E5K|GGT6_ENST00000381550.3_Missense_Mutation_p.E5K	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	5					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACGGGCTCTTCTGCCCGCTCC	0.652000													6	57					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885268	176885268	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:176885268C>T	ENST00000292385.5	-	13	2182	c.1573G>A	c.(1573-1575)Gca>Aca	p.A525T	DBN1_ENST00000309007.5_Missense_Mutation_p.A523T|DBN1_ENST00000393563.4_Missense_Mutation_p.A255T|DBN1_ENST00000512501.1_Missense_Mutation_p.A255T|DBN1_ENST00000393565.1_Missense_Mutation_p.A569T	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	523					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTCGCCTGCTGGCAGCAGT	0.667000													11	53					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76794606	76794606	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:76794606C>T	ENST00000542802.3	-	20	3711	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	USP36_ENST00000449938.2_Missense_Mutation_p.E695K|USP36_ENST00000312010.6_Missense_Mutation_p.E1090K			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTCCTCTTCTCTCTCTTAAAT	0.493000													6	106					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41316180	41316180	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:41316180C>T	ENST00000551295.2	+	5	467	c.350C>T	c.(349-351)tCt>tTt	p.S117F	CNTN1_ENST00000347616.1_Missense_Mutation_p.S117F|CNTN1_ENST00000348761.2_Missense_Mutation_p.S106F|CNTN1_ENST00000360099.3_Missense_Mutation_p.S117F|CNTN1_ENST00000547702.1_Missense_Mutation_p.S117F|CNTN1_ENST00000547849.1_Missense_Mutation_p.S117F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	117	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTTTAGCATCTAATAACTAC	0.403000													6	56					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819589	42819589	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:42819589G>C	ENST00000598766.1	+	8	715	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	TMEM145_ENST00000301204.3_Missense_Mutation_p.E215Q			Q8NBT3	TM145_HUMAN	transmembrane protein 145	215						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGCAggagtagagggtgaggt	0.542000													25	58					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863052	10863052	+	RNA	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:10863052G>A	ENST00000559480.1	+	0	348																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ATTACTGTGTGAGAGACACAA	0.502000													24	463					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121400628	121400628	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:121400628G>T	ENST00000393667.3	-	15	8889	c.8779C>A	c.(8779-8781)Cag>Aag	p.Q2927K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2922K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2922					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATACTCCTGAAGTTGAGCC	0.423000													9	73					0.000274275	0.000283291	1	1	0
AAAS	8086	broad.mit.edu	37	12	53702253	53702253	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:53702253C>G	ENST00000209873.4	-	12	1312	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	AAAS_ENST00000394384.3_Missense_Mutation_p.E350Q|AAAS_ENST00000550286.1_Missense_Mutation_p.E259Q	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	383					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ATTGTTGTCTCAGACAGATCT	0.517000													36	164					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473425	231473425	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:231473425C>T	ENST00000366645.1	-	1	173	c.55G>A	c.(55-57)Gag>Aag	p.E19K	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Missense_Mutation_p.E23K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	23					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCGCGCCTCAAAACCCCCT	0.667000													23	74					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875399	30875399	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:30875399G>T	ENST00000454381.3	-	11	1042	c.996C>A	c.(994-996)caC>caA	p.H332Q	GADL1_ENST00000282538.5_Missense_Mutation_p.H332Q			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	332					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAGCATCTTGTGTGGGTTCC	0.468000													10	42					7.48243e-07	7.87832e-07	1	1	0
MRPL37	51253	broad.mit.edu	37	1	54666259	54666259	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:54666259G>A	ENST00000605337.1	+	1	391	c.343G>A	c.(343-345)Gag>Aag	p.E115K	MRPL37_ENST00000336230.6_Silent_p.S84S|MRPL37_ENST00000360840.5_Missense_Mutation_p.E115K|MRPL37_ENST00000487096.1_Intron			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	115					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CCGCCTTCTCGAGGGTGAGGC	0.602000													12	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594395	179594395	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:179594395C>T	ENST00000589042.1	-	63	18809	c.18585G>A	c.(18583-18585)gtG>gtA	p.V6195V	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V4951V|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.V5878V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5878	Ig-like 43.						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)			ACGAACCTTTCACTTTGAGTT	0.453000													11	118					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150837088	150837088	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:150837088C>G	ENST00000397238.2	+	13	1689	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	527	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTGAGGTACTCAGTTCCAGCC	0.652000													3	23					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208224674	208224674	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:208224674C>T	ENST00000367033.3	-	16	3845	c.3088G>A	c.(3088-3090)Gat>Aat	p.D1030N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1030	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGTTGCTATCCACATGGGCT	0.572000													6	80					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41582333	41582333	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:41582333G>A	ENST00000402685.2	+	1	84	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	26							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCAGGTGCTTGAAGAGCCCCT	0.677000													4	8					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7214921	7214921	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:7214921G>A	ENST00000336458.8	+	5	828	c.427G>A	c.(427-429)Gag>Aag	p.E143K	GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000576930.1_Missense_Mutation_p.E143K|EIF5A_ENST00000416016.2_Missense_Mutation_p.E143K|EIF5A_ENST00000419711.2_Missense_Mutation_p.E143K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E175K|EIF5A_ENST00000573542.1_Missense_Mutation_p.E143K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E173K|EIF5A_ENST00000571955.1_Missense_Mutation_p.E143K	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	143					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TGCCATGACAGAGGAGGCAGC	0.507000													9	65					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2846008	2846008	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrY:2846008G>T	ENST00000155093.3	+	7	1430	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	ZFY_ENST00000383052.1_Missense_Mutation_p.R370L|ZFY_ENST00000431102.1_Missense_Mutation_p.R179L|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000478783.1_3'UTR|ZFY_ENST00000449237.1_Missense_Mutation_p.R293L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						ATTGAAAACCGGAATGGCACT	0.373000													9	128					1.12685e-05	1.17405e-05	1	1	0
TLL1	7092	broad.mit.edu	37	4	166976381	166976381	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr4:166976381G>A	ENST00000061240.2	+	13	2325	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	TLL1_ENST00000507499.1_Missense_Mutation_p.G583R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	560	CUB 2.				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)		TGTTTCTGACGGAACTGTGAA	0.358000													5	45					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59466419	59466419	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:59466419C>T	ENST00000288235.4	-	20	2469	c.2070G>A	c.(2068-2070)atG>atA	p.M690I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	690					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCTCTCTCTCATCTCTTCTA	0.423000													8	66					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347745	89347745	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:89347745G>A	ENST00000301030.4	-	9	5665	c.5205C>T	c.(5203-5205)ctC>ctT	p.L1735L	ANKRD11_ENST00000378330.2_Silent_p.L1735L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1735						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGTCGAACACGAGGTCCGCGT	0.672000													10	169					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1651966	1651966	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:1651966C>T	ENST00000252804.4	-	17	3636	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCCGGATCTCAGGGTTTTTA	0.527000													36	213					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134025781	134025781	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr9:134025781C>T	ENST00000359428.5	+	15	2255	c.2111C>T	c.(2110-2112)gCt>gTt	p.A704V	RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.A694V|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A705V|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	704	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTGTAATGGCTGGAATTGGG	0.448000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								17	32					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960774	143960774	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:143960774G>A	ENST00000377675.3	-	2	368	c.362C>T	c.(361-363)tCa>tTa	p.S121L	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGTGCCTCTGAGTCCTGCCC	0.602000									Familial Hyperaldosteronism type I				11	61					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121562696	121562696	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:121562696G>A	ENST00000275159.6	-	19	2159	c.2160C>T	c.(2158-2160)gtC>gtT	p.V720V	TBC1D32_ENST00000398212.2_Silent_p.V720V					TBC1 domain family, member 32																		TATGCCTGCTGACCTAACAGC	0.383000													4	32					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31081581	31081581	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:31081581G>A	ENST00000206595.6	+	13	1823	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	G2E3_ENST00000438909.2_Missense_Mutation_p.E511K|G2E3_ENST00000553504.1_Missense_Mutation_p.E587K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	557	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CACACCCTTTGAAAGGTAAGT	0.299000													9	49					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141118	22141118	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:22141118G>A	ENST00000344642.2	+	2	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	105						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756000													18	21					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11147610	11147610	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:11147610C>G	ENST00000544779.1	-	9	989	c.984G>C	c.(982-984)ctG>ctC	p.L328L	EXOSC10_ENST00000304457.7_Silent_p.L328L|EXOSC10_ENST00000376936.4_Silent_p.L328L			Q01780	EXOSX_HUMAN	exosome component 10	328					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAATTTGCATCAGGCAGGTCA	0.473000													32	198					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10943784	10943784	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:10943784C>G	ENST00000214869.2	-	4	669	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	TMED1_ENST00000588289.1_Missense_Mutation_p.E46Q|TMED1_ENST00000591695.1_Missense_Mutation_p.W129C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	191					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TTGACCCGCTCCAAGTTGCCC	0.632000													10	68					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57786699	57786699	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:57786699C>G	ENST00000379661.3	+	10	1106	c.714C>G	c.(712-714)ctC>ctG	p.L238L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	238	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)				GGAGCGTCCTCTTCAACCCAG	0.667000													4	17					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990431	39990431	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:39990431G>A	ENST00000332312.3	-	4	1970	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	593						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTTGCTCACTGAGTTCAGATT	0.582000													4	83					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279108	50279108	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr22:50279108C>G	ENST00000216268.5	+	2	2275	c.1798C>G	c.(1798-1800)Ctt>Gtt	p.L600V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TACCAGCTGTCTTCTGAGACA	0.582000													15	65					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63961765	63961765	+	Silent	SNP	G	G	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:63961765G>T	ENST00000358794.5	+	3	1018	c.465G>T	c.(463-465)ctG>ctT	p.L155L	STIP1_ENST00000543847.1_Silent_p.L108L|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Silent_p.L108L|STIP1_ENST00000538945.1_Silent_p.L84L	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	108	STI1 1.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						ACCCTCAACTGAAAGAGGGTT	0.428000													6	67					0.00198382	0.00202798	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2818246	2818246	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:2818246G>A	ENST00000301740.8	+	11	8266	c.7717G>A	c.(7717-7719)Gag>Aag	p.E2573K	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2573	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						TGTGCAACCTGAGGTGGCACT	0.552000													8	37					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808541	77808541	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:77808541G>A	ENST00000269397.4	-	5	1077	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	300	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTGGCGCTCGTCGGCTGCCC	0.652000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	121					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659834	227659834	+	Silent	SNP	A	A	G	rs71889337		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:227659834A>G	ENST00000305123.5	-	1	4641	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTGATGAGGGGGTGGGG	0.582000													4	38					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87615859	87615859	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:87615859G>A	ENST00000327946.7	-	7	1125	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	347						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GTTGAGGCTCGCCATGCTATG	0.532000										Multiple Myeloma(13;0.14)			22	79					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47259022	47259022	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:47259022C>T	ENST00000396220.1	-	28	3629	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000371941.3_Missense_Mutation_p.E1203K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1203					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGGGCAGCTCATCTCCTGGC	0.562000													6	40					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27126077	27126077	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:27126077G>A	ENST00000335625.5	+	4	1059	c.171G>A	c.(169-171)ttG>ttA	p.L57L	GABRA5_ENST00000355395.5_Silent_p.L57L|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.L57L|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	57					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGGCTCTTGGATGGCTACG	0.493000													3	31					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155296408	155296408	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:155296408C>G	ENST00000368352.5	+	8	2050	c.1899C>G	c.(1897-1899)ttC>ttG	p.F633L	RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.F223L|RUSC1_ENST00000292254.4_Missense_Mutation_p.F164L|RUSC1_ENST00000368349.4_Missense_Mutation_p.F164L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	633	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGATTTTTCTCCCTGGCCC	0.607000													28	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594406	179594406	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:179594406C>T	ENST00000589042.1	-	63	18798	c.18574G>A	c.(18574-18576)Gaa>Aaa	p.E6192K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4948K|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5875K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5875	Ig-like 43.						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)			ACTTTGAGTTCAATGCTGCAG	0.468000													10	127					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881329	22881329	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:22881329C>T	ENST00000400546.1	+	16	2484	c.2235C>T	c.(2233-2235)ggC>ggT	p.G745G	NCAM2_ENST00000284894.7_Silent_p.G603G	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	745					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.G745G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAAAAGTGGCTCCAGTGGCA	0.443000													6	91					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543910	46543910	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr13:46543910C>G	ENST00000242848.4	-	14	3117	c.2769G>C	c.(2767-2769)caG>caC	p.Q923H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.Q923H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	923							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGATTTCTGTCTGTTCTCTCT	0.438000													10	157					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22678570	22678570	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr12:22678570G>A	ENST00000333957.4	-	5	674	c.419C>T	c.(418-420)tCa>tTa	p.S140L	C2CD5_ENST00000545552.1_Missense_Mutation_p.S140L|C2CD5_ENST00000396028.2_Missense_Mutation_p.S140L|C2CD5_ENST00000536386.1_Missense_Mutation_p.S140L|C2CD5_ENST00000542676.1_Missense_Mutation_p.S140L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000446597.1_Missense_Mutation_p.S140L|C2CD5_ENST00000540703.1_5'UTR	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TCCACATGATGACTGCCTAAA	0.294000													72	145					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160187420	160187420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:160187420C>A	ENST00000368073.3	-	14	2190	c.1756G>T	c.(1756-1758)Gag>Tag	p.E586*	DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E740*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E586*|DCAF8_ENST00000608310.1_Nonsense_Mutation_p.E740*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E586*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	586						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGGCCCTCCTCCTCGTCCGAT	0.627000													6	78					5.9392e-07	6.26449e-07	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27097665	27097665	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:27097665C>G	ENST00000324856.7	+	12	3625	c.3254C>G	c.(3253-3255)tCa>tGa	p.S1085*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S702*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1085*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1085	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGGCACATCAAGCAGTGCT	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	30					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101245	80101245	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:80101245G>A	ENST00000466387.1	+	10	1353	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R210Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R244Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R210Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	210					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	p.R210Q(2)|p.R210L(2)		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						GCAGCCGCCCGAGGGGCTCTG	0.512000													5	52					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	480551	480551	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr20:480551C>G	ENST00000217244.3	-	5	616	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.E81Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.E81Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	81	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATCTTTATTTCACGCTTAATT	0.353000													9	125					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623364	623364	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:623364C>T	ENST00000262109.7	-	4	1065	c.988G>A	c.(988-990)Gat>Aat	p.D330N	ERICH1_ENST00000522706.1_Missense_Mutation_p.D236N	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	330										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GTAATTGTATCATCTTCCTCG	0.483000													8	122					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644737	6644737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:6644737G>A	ENST00000299441.3	-	21	8581	c.8170C>T	c.(8170-8172)Ctc>Ttc	p.L2724F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2724	Cadherin 26.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTCACGAGAGTGCCTGGA	0.597000													4	16					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298910	65298910	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr2:65298910C>T	ENST00000377990.2	+	3	883	c.680C>T	c.(679-681)tCc>tTc	p.S227F	CEP68_ENST00000260569.4_Missense_Mutation_p.S227F|CEP68_ENST00000546106.1_Missense_Mutation_p.S227F|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	227					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTCCTCCTCCCTGGAGCCG	0.642000													12	94					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21900165	21900165	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:21900165C>G	ENST00000374840.3	+	9	1120	c.870C>G	c.(868-870)ttC>ttG	p.F290L	ALPL_ENST00000540617.1_Missense_Mutation_p.F235L|ALPL_ENST00000425315.2_Missense_Mutation_p.F290L|ALPL_ENST00000539907.1_Missense_Mutation_p.F213L|ALPL_ENST00000374830.1_Intron|ALPL_ENST00000374832.1_Missense_Mutation_p.F290L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	290					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CAGGTCTCTTCGAGCCAGGGG	0.607000													4	36					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78187152	78187152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr14:78187152C>A	ENST00000261531.7	-	12	1212	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Nonsense_Mutation_p.E222*|SNW1_ENST00000555761.1_Nonsense_Mutation_p.E384*|SLIRP_ENST00000557623.1_3'UTR	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	384					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCGATTTTCATTTCTCTGA	0.373000													14	78					4.3838e-07	4.63209e-07	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53645450	53645450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:53645450C>G	ENST00000452676.2	-	5	1060	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E212Q|ZNF347_ENST00000334197.7_Missense_Mutation_p.E211Q	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGACTTCTCAACCTGATTA	0.338000													10	44					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654824	19654824	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:19654824C>T	ENST00000586018.1	+	8	1590	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CILP2_ENST00000291495.5_Silent_p.F490F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	490						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCTACGCTTCGCCAGGATTC	0.667000													4	59					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46173942	46173942	+	Missense_Mutation	SNP	G	G	A	rs146012706		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:46173942G>A	ENST00000590918.1	+	3	221	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	GIPR_ENST00000263281.3_Missense_Mutation_p.R41Q|GIPR_ENST00000304207.8_Missense_Mutation_p.R41Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	41					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CGCTGGGAACGGTACCGCAGG	0.682000													3	32					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280339	100280339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:100280339C>T	ENST00000275732.5	-	20	3683	c.2474G>A	c.(2473-2475)tGg>tAg	p.W825*		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	825										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGCCCGCCCCACAGTGGCCC	0.682000													3	33					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907374	164907374	+	Silent	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:164907374C>G	ENST00000475390.1	-	2	1688	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	SLITRK3_ENST00000241274.3_Silent_p.L415L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	415						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GATTGCTACTCAGATACAGTT	0.393000										HNSCC(40;0.11)			10	85					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411121	43411121	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:43411121G>A	ENST00000187910.2	-	5	1258	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	PSG6_ENST00000292125.2_Missense_Mutation_p.S398L|PSG6_ENST00000402603.4_Missense_Mutation_p.S305L	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)				GCCAGTGGCTGAGTTACGAAC	0.443000													66	347					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35190667	35190667	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr21:35190667G>A	ENST00000381318.3	+	23	3112	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	ITSN1_ENST00000399353.1_Missense_Mutation_p.V900I|ITSN1_ENST00000399349.1_Missense_Mutation_p.V937I|ITSN1_ENST00000399352.1_Missense_Mutation_p.V937I|ITSN1_ENST00000399326.3_Missense_Mutation_p.V937I|ITSN1_ENST00000381285.4_Missense_Mutation_p.V942I|ITSN1_ENST00000399355.2_Missense_Mutation_p.V942I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.V937I|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.V937I|ITSN1_ENST00000381291.4_Missense_Mutation_p.V942I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	942	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGTCATCACCGTCCTGGAACA	0.453000													14	177					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818127	43818127	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:43818127G>C	ENST00000382031.1	+	5	5201	c.5170G>C	c.(5170-5172)Gaa>Caa	p.E1724Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.E1486Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1486Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1486						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)	CAGGGTCCTAGAACAGAAGGA	0.448000													11	84					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375531	16375531	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:16375531G>A	ENST00000375667.3	+	1	248	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CLCNKB_ENST00000375679.4_Intron	NM_001165945.2	NP_001159417.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGGTCAGGGAGGAGGTG	0.687000													17	39					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15228765	15228765	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:15228765G>C	ENST00000263383.3	-	10	1252	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	ILVBL_ENST00000534378.1_Missense_Mutation_p.I264M	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	371						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GATTGACGATGATGATCTTGC	0.562000													12	96					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153131242	153131242	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chrX:153131242C>G	ENST00000370060.1	-	20	2653	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	L1CAM_ENST00000370055.1_Missense_Mutation_p.E817Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E817Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E824Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E824Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E822Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E822Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	822	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGATTTCAATGCCTTCC	0.602000													29	98					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149285584	149285584	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:149285584G>C	ENST00000367463.4	+	5	669	c.566G>C	c.(565-567)aGa>aCa	p.R189T	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	189					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AACATCATTAGAGACCCCGTC	0.488000													3	31					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590409	8590409	+	Silent	SNP	G	G	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr3:8590409G>A	ENST00000157600.3	+	4	775	c.543G>A	c.(541-543)ctG>ctA	p.L181L	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.L181L|LMCD1_ENST00000397386.3_Silent_p.L69L|LMCD1_ENST00000454244.1_Silent_p.L108L	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	181	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGTTGAAACTGATGGAAGAAT	0.597000													16	220					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213977	58213977	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:58213977C>T	ENST00000512439.2	-	3	536	c.340G>A	c.(340-342)Gag>Aag	p.E114K	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.E114K			Q13106	ZN154_HUMAN	zinc finger protein 154	114						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTGATTGCTCCCCAGTGTGA	0.502000													11	100					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:20683155C>T	ENST00000404938.2	+	7	1230	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000													11	72					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18652666	18652666	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:18652666C>G	ENST00000608443.1	-	2	314	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	FKBP8_ENST00000222308.4_Missense_Mutation_p.E39Q|FKBP8_ENST00000596558.2_Missense_Mutation_p.E39Q|FKBP8_ENST00000453489.2_Missense_Mutation_p.E68Q|FKBP8_ENST00000597960.3_Missense_Mutation_p.E39Q|FKBP8_ENST00000610101.1_Missense_Mutation_p.E39Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		Glu-rich.				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						tcctcctcctcttcctcctcA	0.657000													4	21					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47307057	47307057	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:47307057G>C	ENST00000342922.4	+	14	2824	c.2467G>C	c.(2467-2469)Gag>Cag	p.E823Q	MADD_ENST00000395344.3_Missense_Mutation_p.E780Q|MADD_ENST00000395336.3_Missense_Mutation_p.E823Q|MADD_ENST00000402192.2_Missense_Mutation_p.E823Q|MADD_ENST00000407859.3_Missense_Mutation_p.E780Q|MADD_ENST00000402799.1_Missense_Mutation_p.E780Q|MADD_ENST00000349238.3_Missense_Mutation_p.E823Q|MADD_ENST00000311027.5_Missense_Mutation_p.E823Q|MADD_ENST00000406482.1_Missense_Mutation_p.E780Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	823					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			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)		CTCAGATGCAGAGTCAGACTC	0.577000													19	227					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61904236	61904236	+	Silent	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr17:61904236C>T	ENST00000427159.2	-	2	672	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	9					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTCGTCGGCTCTTGCCAACTT	0.562000													16	62					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68896793	68896793	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr1:68896793C>G	ENST00000262340.5	-	13	1458	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	469					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATGGGTTCTGATGGGTAT	0.388000													4	32					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135726115	135726115	+	Splice_Site	SNP	C	C	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:135726115C>A	ENST00000367800.4	-	20	3178	c.2962G>T	c.(2962-2964)Gag>Tag	p.E988*	AHI1_ENST00000327035.6_Splice_Site_p.E988*|AHI1_ENST00000457866.2_Splice_Site_p.E988*|AHI1_ENST00000417892.2_Splice_Site_p.E342*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	988						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGTATCACCTCCTAAAAGAAA	0.318000													4	24					0.000602214	0.000620936	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754735	140754735	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:140754735C>T	ENST00000517434.1	+	1	1085	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCACCTCCAGGAACAGTA	0.443000													12	111					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35758056	35758056	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr19:35758056C>T	ENST00000602122.1	+	8	1760	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	LSR_ENST00000361790.3_Missense_Mutation_p.R445W|LSR_ENST00000427250.1_Missense_Mutation_p.R289W|LSR_ENST00000347609.4_Missense_Mutation_p.R387W|LSR_ENST00000360798.3_Missense_Mutation_p.R377W|LSR_ENST00000354900.3_Missense_Mutation_p.R426W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	445					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGCGATCTCGGCCTTCCCG	0.697000													20	63					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586895	121586895	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr10:121586895C>G	ENST00000361976.2	+	20	3168	c.3002C>G	c.(3001-3003)tCa>tGa	p.S1001*	INPP5F_ENST00000369080.3_Nonsense_Mutation_p.S391*	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1001							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAAACCCAATCAGAATCAACA	0.448000													7	136					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37049264	37049264	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:37049264C>T	ENST00000282516.8	+	40	7314	c.6815C>T	c.(6814-6816)tCa>tTa	p.S2272L	NIPBL_ENST00000448238.2_Missense_Mutation_p.S2272L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2272					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATGTTTCCTCAGGGATGAGT	0.403000													16	124					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721710	137721710	+	Splice_Site	DEL	G	G	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:137721710delG	ENST00000314358.5	+	7	980		c.e7-1			NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTGTTTTGTAGGGGGGTACGT	0.423													8	216	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													4	4	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29595438	29595438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:29595438delG	ENST00000377012.4	-	1	391	c.131delC	c.(130-132)ccgfs	p.P44fs	GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000377034.4_Intron|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Del_p.P44fs	NM_021903.2	NP_068703.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	161	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAGGGGTGCGGGGGGACCCG	0.726													2	4	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													7	7	---	---	---	---					
TRBV27	28560	broad.mit.edu	37	7	142423221	142423221	+	RNA	DEL	C	C	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr7:142423221delC	ENST00000390399.3	+	0	49																											CTGCCATGGGCCCCCAGCTCC	0.532													14	27	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101730036	101730037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:101730036_101730037insC	ENST00000318607.5	-	3	1595_1596	c.467_468insG	c.(466-468)gaafs	p.E156fs	PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	156	RRM 2.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTCATTTTTTCAATAGCTCT	0.337													7	83	---	---	---	---					
DGAT1	8694	broad.mit.edu	37	8	145541061	145541062	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr8:145541061_145541062delGT	ENST00000332324.4	-	13	1301_1302	c.1028_1029delAC	c.(1027-1029)cacfs	p.H343fs		NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	343					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCAGGCAGGAGTGGAAGAGCCA	0.604													16	192	---	---	---	---					
TENM4	26011	broad.mit.edu	37	11	78433899	78433902	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr11:78433899_78433902delCTCC	ENST00000278550.7	-	24	4073_4076	c.3611_3614delGGAG	c.(3610-3615)gggagcfs	p.GS1204fs		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCCATGATGCTCCCAATGACAGG	0.593													11	77	---	---	---	---					
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	RNA	INS	-	-	T			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr15:78215586_78215587insT	ENST00000567226.1	-	0	225																											AAAATGAGAAATTTAAAAAAAA	0.441													2	4	---	---	---	---					
FLYWCH1	84256	broad.mit.edu	37	16	2980494	2980494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:2980494delA	ENST00000399667.2	+	4	772	c.409delA	c.(409-411)aagfs	p.K137fs	FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.K136fs|FLYWCH1_ENST00000253928.9_Frame_Shift_Del_p.K137fs			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	137						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CAAGCAGGAGAAGGCAGTGGG	0.667													2	4	---	---	---	---					
SF3B3	23450	broad.mit.edu	37	16	70605099	70605100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:70605099_70605100insA	ENST00000302516.5	+	25	3721_3722	c.3510_3511insA	c.(3511-3513)aagfs	p.K1171fs		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1171					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACTTCCCTGTGAAGGTAGGTTG	0.550													12	91	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	7	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053806	90053806	+	RNA	DEL	G	G	-			TCGA-FD-A62P-01A-32D-A30E-08	TCGA-FD-A62P-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ccafa6-f3f8-433f-ba0b-fe93871d8a3e	1fa4973a-4b9b-4eb4-a900-5f0bdefbfbc8	g.chr16:90053806delG	ENST00000437774.1	+	0	731					NR_003226.1																						aggtggaggaggtggaggagg	0.642													3	4	---	---	---	---